1. Gene
  2. IKBKG - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Gene

IKBKG - inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Gene

中文名称:核因子 kappa B 激酶调节亚基 γ 抑制因子

种属: Homo sapiens

同用名: IP; IP1; IP2; FIP3; IKKG; IPD2; NEMO; FIP-3; Fip3p; IMD33; SAIDX; AMCBX1; EDAID1; IKKAP1; ZC2HC9; IKK-gamma

基因 ID: 8517 | 基因类型: protein coding

关于 IKBKG

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,541,238-154,565,046 (from NCBI)

This gene has 22 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 10 phenotypes. Ubiquitous expression in spleen (RPKM 11.5), appendix (RPKM 8.9) and 25 other tissues.

功能概要

该基因编码 kappaB 激酶 (IKK) 复合物抑制剂的调节亚基,激活 NF-kappaB,从而激活参与炎症、免疫、细胞存活和其他途径的基因。该基因的突变会导致色素失禁、少汗性外胚层发育不良和其他几种类型的免疫缺陷。与该基因座高度相似的假基因位于 X 染色体的相邻区域。[RefSeq 提供,2016 年 3 月]

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

IKBKG 基因产物(10)

mRNA Protein Name
NM_001099856.6 NP_001093326.2 NF-kappa-B essential modulator isoform b
NM_001099857.5 NP_001093327.1 NF-kappa-B essential modulator isoform a
NM_001145255.4 NP_001138727.1 NF-kappa-B essential modulator isoform c
NM_001321396.3 NP_001308325.1 NF-kappa-B essential modulator isoform a
NM_001321397.3 NP_001308326.1 NF-kappa-B essential modulator isoform d
NM_001377312.1 NP_001364241.1 NF-kappa-B essential modulator isoform a
NM_001377313.1 NP_001364242.1 NF-kappa-B essential modulator isoform d
NM_001377314.1 NP_001364243.1 NF-kappa-B essential modulator isoform e
NM_001377315.1 NP_001364244.1 NF-kappa-B essential modulator isoform f
NM_003639.4 NP_003630.1 NF-kappa-B essential modulator isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
18287044 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18462684 GOA
enables linear polyubiquitin binding IDA
IDA: 通过直接分析推断
23453807 GOA
enables polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
27777308 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9751060 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
15341735 GOA
enables protein heterodimerization activity IDA
IDA: 通过直接分析推断
23091055 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23091055 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
27777308 GOA
enables transferrin receptor binding IPI
IPI: 通过物理相互作用推断
23016877 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
23453807 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of IkappaB kinase complex IDA
IDA: 通过直接分析推断
23776175 GOA
part of IkappaB kinase complex IPI
IPI: 通过物理相互作用推断
20434986 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11113112 GOA
is active in cytosol IDA
IDA: 通过直接分析推断
11113112 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
24561039 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14651848 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
11113112 GOA
located in spindle pole IDA
IDA: 通过直接分析推断
24561039 GOA
part of ubiquitin ligase complex IPI
IPI: 通过物理相互作用推断
17314283 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

IKBKG 蛋白结构

NEMO

NEMO: NF-kappa-B essential modulator NEMO (45 - 110)

  • 0
  • 100
  • 200
  • 300
  • 368 a.a.
蛋白主名 其他名称

NF-kappa-B essential modulator

14.7K (adenovirus E3 protein) interacting protein 3

IKBKG 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra IKBKG Q9Y6K9 GIT2 Homo sapiens Q14161
Y2H Array
21988832
Intra IKBKG Q9Y6K9 GIT2 Homo sapiens Q14161
Anti Tag CoIP
21988832
Intra IKBKG Q9Y6K9 GIT2 Homo sapiens Q14161
Pull Down
21988832
Intra IKBKG Q9Y6K9 MALT1 Homo sapiens Q9UDY8
Anti Bait CoIP
27070702
Intra IKBKG Q9Y6K9 RBCK1 Homo sapiens Q9BYM8
Protein Array
20098747
Intra IKBKG Q9Y6K9 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
23032186
Intra IKBKG Q9Y6K9 RBCK1 Homo sapiens Q9BYM8
Anti Bait CoIP
21811235
Intra IKBKG Q9Y6K9 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21709223
Intra IKBKG Q9Y6K9 RBCK1 Homo sapiens Q9BYM8
Anti Tag CoIP
21455180
Intra IKBKG Q9Y6K9 AMOT Homo sapiens Q4VCS5
ViroTrap
30561431
Cross IKBKG Q9Y6K9 orf9b_sars2 SARS-CoV-2 P0DTD2
Anti Tag CoIP
33567255
Cross IKBKG Q9Y6K9 orf9b_sars2 SARS-CoV-2 P0DTD2
IF
33567255
Intra IKBKG Q9Y6K9 ARL6IP4 Homo sapiens Q66PJ3
Protein Array
20098747
Intra IKBKG Q9Y6K9 CDC37 Homo sapiens Q16543
Anti Tag CoIP
33961781
Intra IKBKG Q9Y6K9 CDC37 Homo sapiens Q16543
Anti Tag CoIP
26496610
Intra IKBKG Q9Y6K9 CDC37 Homo sapiens Q16543
Anti Bait CoIP
24618592
Intra IKBKG Q9Y6K9 HSP90AA1 Homo sapiens P07900
Anti Tag CoIP
33961781
Intra IKBKG Q9Y6K9 KRT8 Homo sapiens P05787
Y2H
21988832
Intra IKBKG Q9Y6K9 KRT18 Homo sapiens P05783
Y2H Array
21988832
Intra IKBKG Q9Y6K9 KRT18 Homo sapiens P05783
Y2H
21988832
Intra IKBKG Q9Y6K9 NFKBIA Homo sapiens P25963
Protein Kinase Assay
16126728
Intra IKBKG Q9Y6K9 NFKBIA Homo sapiens P25963
TAP
14743216
Intra IKBKG Q9Y6K9 NFKBIA Homo sapiens P25963
Protein Kinase Assay
21217772
Intra IKBKG Q9Y6K9 UBC Homo sapiens P0CG48
Pull Down
19373254
Intra IKBKG Q9Y6K9 UBC Homo sapiens P0CG48
Anti Tag CoIP
16874300
Intra IKBKG Q9Y6K9 UBC Homo sapiens P0CG48
Anti Bait CoIP
17363905
Intra IKBKG Q9Y6K9 UBC Homo sapiens P0CG48
Anti Tag CoIP
17363905
Intra IKBKG Q9Y6K9 COPS3 Homo sapiens Q9UNS2
Y2H
11418127
Intra IKBKG Q9Y6K9 COPS3 Homo sapiens Q9UNS2
Anti Bait CoIP
11418127
Intra IKBKG Q9Y6K9 HSP90AB1 Homo sapiens P08238
Anti Bait CoIP
24618592
Intra IKBKG Q9Y6K9 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
33961781
Intra IKBKG Q9Y6K9 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
26496610
Intra IKBKG Q9Y6K9 NFKBIB Homo sapiens Q15653
TAP
14743216
Intra IKBKG Q9Y6K9 TANK Homo sapiens Q92844
ViroTrap
30561431
Intra IKBKG Q9Y6K9 TANK Homo sapiens Q92844
Anti Tag CoIP
33961781
Intra IKBKG Q9Y6K9 TBK1 Homo sapiens Q9UHD2
ViroTrap
30561431
Intra IKBKG Q9Y6K9 TBK1 Homo sapiens Q9UHD2
Protein Array
20098747
Intra IKBKG Q9Y6K9 TBK1 Homo sapiens Q9UHD2
Anti Tag CoIP
33961781
Intra IKBKG Q9Y6K9 TNIP1 Homo sapiens Q15025
Pull Down
20010814
Intra IKBKG Q9Y6K9 TNIP1 Homo sapiens Q15025
Y2H Array
21988832
Intra IKBKG Q9Y6K9 TNIP1 Homo sapiens Q15025
ViroTrap
30561431
Intra IKBKG Q9Y6K9 MAP3K14 Homo sapiens Q99558
TAP
14743216
Intra IKBKG Q9Y6K9 RIPK1 Homo sapiens Q13546
Anti Bait CoIP
21458669
Intra IKBKG Q9Y6K9 RIPK1 Homo sapiens Q13546
Anti Bait CoIP
23104095
Intra IKBKG Q9Y6K9 RIPK1 Homo sapiens Q13546
Anti Bait CoIP
14653779
Intra IKBKG Q9Y6K9 RIPK1 Homo sapiens Q13546
CoIP
10880512
Intra IKBKG Q9Y6K9 RIPK1 Homo sapiens Q13546
ViroTrap
30561431
Intra IKBKG Q9Y6K9 TNIP2 Homo sapiens Q8NFZ5
Anti Bait CoIP
14653779
Intra IKBKG Q9Y6K9 TNIP2 Homo sapiens Q8NFZ5
Confocal
14653779
Intra IKBKG Q9Y6K9 TNF Homo sapiens P01375
Anti Tag CoIP
23104095
Intra IKBKG Q9Y6K9 TNF Homo sapiens P01375
ViroTrap
30561431
Intra IKBKG Q9Y6K9 CDK2 Homo sapiens P24941
Anti Tag CoIP
20098747
Intra IKBKG Q9Y6K9 CDK2 Homo sapiens P24941
Y2H
20098747
Intra IKBKG Q9Y6K9 CDK2 Homo sapiens P24941
Protein Array
20098747
Intra IKBKG Q9Y6K9 SHARPIN Homo sapiens Q9H0F6
Anti Tag CoIP
21709223
Intra IKBKG Q9Y6K9 SHARPIN Homo sapiens Q9H0F6
Anti Tag CoIP
21455180
Intra IKBKG Q9Y6K9 SHARPIN Homo sapiens Q9H0F6
Anti Bait CoIP
23032186
Intra IKBKG Q9Y6K9 FLT3 Homo sapiens P36888
Protein Array
20098747
Intra IKBKG Q9Y6K9 CALB1 Homo sapiens P05937
Anti Tag CoIP
20098747
Intra IKBKG Q9Y6K9 MYC Homo sapiens P01106
IF
20970423
Intra IKBKG Q9Y6K9 MYC Homo sapiens P01106
Anti Tag CoIP
20970423
Intra IKBKG Q9Y6K9 ATM Homo sapiens Q13315
Pull Down
18583959
Intra IKBKG Q9Y6K9 ATM Homo sapiens Q13315
Anti Tag CoIP
18583959
Intra IKBKG Q9Y6K9 SYT1 Homo sapiens P21579
Y2H
20098747
Intra IKBKG Q9Y6K9 SYT1 Homo sapiens P21579
Anti Tag CoIP
20098747
Intra IKBKG Q9Y6K9 TNFAIP3 Homo sapiens P21580
Anti Tag CoIP
21988832
Intra IKBKG Q9Y6K9 TNFAIP3 Homo sapiens P21580
Anti Bait CoIP
23032186
Intra IKBKG Q9Y6K9 TNFAIP3 Homo sapiens P21580
ViroTrap
30561431
Intra IKBKG Q9Y6K9 TNFAIP3 Homo sapiens P21580
CoIP
11389905
Cross IKBKG Q9Y6K9 ipaH9.8 Shigella flexneri Q8VSC3
Y2H
20010814
Cross IKBKG Q9Y6K9 ipaH9.8 Shigella flexneri Q8VSC3
Pull Down
20010814
Cross IKBKG Q9Y6K9 ipaH9.8 Shigella flexneri Q8VSC3
Anti Tag CoIP
20010814
Intra IKBKG Q9Y6K9 SRC Homo sapiens P12931
Anti Bait CoIP
15749833
Intra IKBKG Q9Y6K9 RUSC1 Homo sapiens Q9BVN2-2
Anti Tag CoIP
19365808
Intra IKBKG Q9Y6K9 SNW1 Homo sapiens Q13573
Y2H Array
20211142
Intra IKBKG Q9Y6K9 PPP2CA Homo sapiens P67775
Anti Bait CoIP
16126728
Intra IKBKG Q9Y6K9 PPP2CA Homo sapiens P67775
CoIP
16129692
Intra IKBKG Q9Y6K9 PPP2CA Homo sapiens P67775
GMS
16126728
Intra IKBKG Q9Y6K9 SENP2 Homo sapiens Q9HC62
Y2H
20098747
Intra IKBKG Q9Y6K9 ADAP2 Homo sapiens Q9NPF8
Protein Array
20098747
Intra IKBKG Q9Y6K9 ZC3H12A Homo sapiens Q5D1E8
Anti Bait CoIP
24270572
Intra IKBKG Q9Y6K9 ZC3H12A Homo sapiens Q5D1E8
Anti Tag CoIP
24270572
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
24618592
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Tag CoIP
26496610
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
20434986
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Tag CoIP
16126728
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
18266467
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
TAP
14743216
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
16319058
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
19666608
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
20368414
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
17363973
Intra IKBKG Q9Y6K9 CHUK Homo sapiens O15111
Anti Bait CoIP
15749833
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
Anti Bait CoIP
18266467
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
Anti Bait CoIP
16938294
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
Anti Tag CoIP
16126728
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
TAP
14743216
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
Anti Bait CoIP
16319058
Intra IKBKG Q9Y6K9 IKBKB Homo sapiens O14920
Anti Bait CoIP
15749833
Intra IKBKG Q9Y6K9 RNF31 Homo sapiens Q96EP0
Anti Tag CoIP
21455180
Intra IKBKG Q9Y6K9 RNF31 Homo sapiens Q96EP0
Anti Bait CoIP
23032186
Intra IKBKG Q9Y6K9 RNF31 Homo sapiens Q96EP0
Anti Bait CoIP
21811235
Intra IKBKG Q9Y6K9 RNF31 Homo sapiens Q96EP0
ViroTrap
30561431
Intra IKBKG Q9Y6K9 BCL10 Homo sapiens O95999
Anti Bait CoIP
17363905
Intra IKBKG Q9Y6K9 BCL10 Homo sapiens O95999
Pull Down
18287044
Intra IKBKG Q9Y6K9 ATR Homo sapiens Q13535
Anti Bait CoIP
18583959
Intra IKBKG Q9Y6K9 ATR Homo sapiens Q13535
Anti Tag CoIP
18583959
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Incontinentia Pigmenti

Bloch-Sulzberger Syndrome

IP

Incontinentia Pigmenti, Familial Male-Lethal Type

Incontinentia Pigmenti Syndrome

Bloch-Siemens Syndrome

Ip2

Incontinentia Pigmenti, Type Ii, Formerly

Ip2, Formerly

Incontinentia Pigmenti Type 2

Bloch-Siemens-Sulzberger Syndrome

Familial Incontinentia Pigmenti Male-Lethal Type

Familial Incontinentia Pigmenti Type Ii

Incontinentia Pigmenti, Type Ii

Bloch Sulzberger Syndrome

Incontinentia Pigmenti Achromians

Incontinentia Pigmenti Of Bloch-Sulzberger

Nevus Pigmentosus Systematicus

Immunodeficiency 33

IMD33

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Ikbkg Deficiency

X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Nemo Deficiency

X-Linked Msmd Due To Ikbkg Deficiency

X-Linked Msmd Due To Nemo Deficiency

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Invasive Pneumococcal Disease, Recurrent Isolated, 2, Formerly

Ipd2, Formerly

Nf-Kappa B Essential Modulator Deficiency

Familial X-Linked 1 Atypical Mycobacteriosis

Nemo Deficiency Syndrome

Amcbx1

Familial, X-Linked, Atypical Mycobacteriosis 1

Ipd2

Recurrent Isolated Invasive Pneumococcal Disease 2

X-Linked Disseminated Atypical Mycobacterial Infection Type 1

X-Linked Immunodeficiency 33, Mycobacteriosis

X-Linked Susceptibility To Mycobacterial Disease Type 1

Invasive Pneumococcal Disease, Recurrent Isolated, Type 2

Atypical Mycobacteriosis, Familial, X-Linked 1

Ectodermal Dysplasia And Immunodeficiency 1

Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency

Hypohidrotic Ectodermal Dysplasia With Immune Deficiency

Hed-Id

Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome

EDAID1

Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema

Oledaid

Anhidrotic Ectodermal Dysplasia With Immune Deficiency

Eda-Id

Ectodermal Dysplasia, Anhidrotic, With Immune Deficiency

Hedid

Hyper-Igm Immunodeficiency, X-Linked, With Hypohidrotic Ectodermal Dysplasia

Xhmed

Hyper-Igm Immunodeficiency With Hypohidrotic Ectodermal Dysplasia

Ol-Eda-Id

Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis And Lymphedema

Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency X-Linked

Ectodermal Dysplasia Anhidrotic With Immune Deficiency

Ectodermal Dysplasia Hypohidrotic With Immunodeficiency

Hyper-Igm Immunodeficiency X-Linked With Ectodermal Dysplasia Hypohidrotic

Nemo Deficiency

Xhm-Ed

Dysplasia, Ectodermal, And Immunodeficiency, Type 1

Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic

Autoinflammatory Disease, Systemic, X-Linked

SAIDX

Immunodeficiency Without Anhidrotic Ectodermal Dysplasia

Immunodeficiency, Isolated

Immunodeficiency, Pure

Hypohidrotic Ectodermal Dysplasia With Immunodeficiency

Anhidrotic Ectodermal Dysplasia With Immunodeficiency

Eda-Id

Hed-Id

Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency

Molluscum Contagiosum

Water Warts

Molluscum Verrucosum

Hepatitis A

Viral Hepatitis A

Viral Hepatitis, Type A

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia

Hed

Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic

Eda

Christ-Siemens-Touraine Syndrome

ECTD10B

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia, Anhidrotic

Cst Syndrome

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

Dysplasia, Ectodermal, Hypohidrotic

Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Ectodermal Dysplasia 3, Anhidrotic

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Cd40 Ligand Deficiency

X-Linked Hyper Igm Syndrome

Hyperimmunoglobulin M Syndrome

Higm1

Hyper-Igm Syndrome Type 1

X-Linked Hyper-Igm Syndrome

Xhigm

Higmx-1

X-Linked Hyper-Igm Immunodeficiency

Hyper-Igm Syndrome 1

Immunodeficiency With Hyper-Igm, Type 1

Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

Hyper-Igm Syndrome Due To Cd40l Deficiency

Hyper-Igm Immunodeficiency Syndrome

Hyper-Igm Immunodeficiency Syndrome, Type 1

Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Hereditary Lymphedema I

Lymphedema

Hereditary Lymphedema Type I

Congenital Primary Lymphedema

Lmph1

Milroy Disease

Nonne-Milroy Lymphedema

Pcl

Lymphedema Hereditary Type 1

Tuberculous Salpingitis
Immunodeficiency 31b

IMD31B

Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Autosomal Recessive Stat1 Deficiency

Predisposition To Severe Viral Infection Due To Stat1 Deficiency

Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency

Stat1 Deficiency, Autosomal Recessive

Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections

Stat1 Deficiency

Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections

Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency

Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Subdural Empyema

Empyema, Subdural

Subdural Abscess

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Christ-Siemens-Touraine Syndrome

XHED

Ectodermal Dysplasia 1

Xlhed

Ed1

Cst Syndrome

Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked

Ectd1

Ectodermal Dysplasia, Anhidrotic, X-Linked

Eda

Eda1

Hed1

Ectodermal Dysplasia 1, Anhidrotic

X-Linked Anhidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia

Hypohidrotic X-Linked Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, 1

Hypohidrotic Ectodermal Dysplasia, X-Linked

Anhidrotic Ectodermal Dysplasia X-Linked

Hypohidrotic Ectodermal Dysplasia X-Linked

Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked

Ectodermal Dysplasia Anhidrotic

Dowling-Degos Disease 1

Reticular Pigment Anomaly Of Flexures

DDD1

Ddd

Hyperpigmentation

Dowling-Degos Disease

Salivary Gland Adenoid Cystic Carcinoma

Cylindroma

Anodontia

Complete Absence Of Teeth

Developmental Absence Of Tooth

Total Anodontia Of Permanent And Deciduous Teeth

Absence Of Permanent Teeth

Anodontia Of Permanent Dentition

Agomphiasis

Agomphosis

Anodontism

Complete Developmental Absence Of Teeth

Congenital Absence Of Teeth

Congenital Complete Absence Of Teeth

Congenital Edentia

Absence Of Teeth

Absent Teeth

Congenital Partial Absence Of Teeth

Partial Absence Of Teeth

Partial Anodontia

Keratoacanthoma

Ka - [Keratoacanthoma]

Well-Differentiated Squamous Cell Carcinoma

Hypomelanosis Of Ito

Incontinentia Pigmenti Achromians

Nevus Of Ito

Ipa

Ito Hypomelanosis

Ito

Pigmentation Disorders

HMI

Incontinentia Pigmenti, Type I, Formerly

Ip1, Formerly

Bloch-Siemans Syndrome

Incontinentia Pigmenti Achromians Syndrome

Ito'S Nevus

Incontinentia Pigmenti Type 1

Nevi Of Ito

Nevus Fuscocaeruleus Acromiodeltoideus

Bloch Sulzberger Syndrome

Skin Pigmentation Disorder

Autoinflammation, Panniculitis, And Dermatosis Syndrome

Otulipenia

Otulin-Related Autoinflammatory Syndrome

AIPDS

Oras

Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome

Autoinflammation, Panniculitis And Dermatosis Syndrome

Otulin Deficiency

Immunodeficiency With Hyper-Igm, Type 1

Immunodeficiency, X-Linked, With Hyper-Igm

Hyper Igm Syndrome

HIGM1

Xhim

Hyper-Igm Syndrome

Higm

Hyper-Igm Syndrome 1

Immunodeficiency 3

Imd3

Immunodeficiency With Hyper-Igm

Immunodeficiency With Hyper Igm Type 1

Ihis

X-Linked Hyper Igm Syndrome

Hyper-Igm Immunodeficiency, X-Linked

Hyper Igm Immunodeficiency, X-Linked

Hyper Igm Syndrome 1

X-Linked Immunodeficiency With Hyper-Igm 1

Immunodeficiency, With Hyper Igm

Immunodeficiency, With Hyper Igm, Type 1

Hyper-Igm Immunodeficiency Syndrome, Type 1

Hyperimmunoglobulin M Syndrome

Glycogen Storage Disease Iv

Gsd Iv

Glycogen Branching Enzyme Deficiency

Andersen Disease

Amylopectinosis

Glycogen Storage Disease Type Iv

GSD4

Brancher Deficiency

Glycogen Storage Disease, Type Iv

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gbe1 Deficiency

Glycogenosis Iv

Cirrhosis, Familial, With Deposition Of Abnormal Glycogen

Glycogen Storage Disease Type 4

Glycogenosis 4

Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features

Andersen'S Disease

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Brancher Deficiency Glycogenosis

Branching-Transferase Deficiency Glycogenosis

Deficiency Of 1,4-Alpha-Glucan Branching Enzyme

Andersen-Tawil Syndrome

Gsd 4

Andersen Cardiodysrhythmic Periodic Paralysis

Lqt7

Long Qt Syndrome 7

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Andersen Glycogenosis

Branching Enzyme Deficiency

Glycogenosis, Type Iv

Gsd Type Iv

Type Iv Glycogenosis

Gbe Deficiency, Childhood Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Gsd Type 4, Childhood Neuromuscular Form

Gsdiv, Childhood Neuromuscular Form

Glycogen Storage Disease Type 4, Childhood Neuromuscular Form

Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form

Glycogenosis Type 4, Childhood Neuromuscular Form

Glycogenosis Type Iv, Childhood Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gbe Deficiency, Adult Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Gsd Type 4, Adult Neuromuscular Form

Gsdiv, Adult Neuromuscular Form

Glycogen Storage Disease Type 4, Adult Neuromuscular Form

Glycogen Storage Disease Type Iv, Adult Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form

Glycogenosis Type 4, Adult Neuromuscular Form

Glycogenosis Type Iv, Adult Neuromuscular Form

Gbe Deficiency, Congenital Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Gsd Type 4, Congenital Neuromuscular Form

Gsdiv, Congenital Neuromuscular Form

Glycogen Storage Disease Type 4, Congenital Neuromuscular Form

Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form

Glycogenosis Type 4, Congenital Neuromuscular Form

Glycogenosis Type Iv, Congenital Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Gsd Type 4, Childhood Combined Hepatic And Myopathic Form

Gsdiv, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form

Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form

Gbe Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Gsd Type 4, Fatal Perinatal Neuromuscular Form

Gsdiv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form

Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form

Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gbe Deficiency, Non Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Gsd Type 4, Non Progressive Hepatic Form

Gsdiv, Non Progressive Hepatic Form

Glycogen Storage Disease Type 4, Non Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form

Glycogenosis Type 4, Non Progressive Hepatic Form

Glycogenosis Type Iv, Non Progressive Hepatic Form

Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gbe Deficiency, Progressive Hepatic Form

Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Gsd Type 4, Progressive Hepatic Form

Gsdiv, Progressive Hepatic Form

Glycogen Storage Disease Type 4, Progressive Hepatic Form

Glycogen Storage Disease Type Iv, Progressive Hepatic Form

Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form

Glycogenosis Type 4, Progressive Hepatic Form

Glycogenosis Type Iv, Progressive Hepatic Form

Glycogen Storage Disease 4

Gsd-Iv

Storage Disease, Glycogen, Type Iv

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

Fetal Encasement Syndrome

Cocoon Syndrome

COCOS

Fetal Diseases

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Olmsted Syndrome, X-Linked

OLMSX

Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked

Ppkmx

X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

X-Linked Olmsted Syndrome

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Adult T-Cell Leukemia/Lymphoma

Adult T-Cell Leukemia

Atll

Adult T-Cell Leukaemia

Adult T-Cell Leukaemia/Lymphoma

Adult T-Cell Lymphoma

T Cell Leukemia Lymphoma Adult

Leukemia-Lymphoma, Adult T-Cell

Leukemia, T-Cell

Adult T-Cell Lymphoma/Leukemia

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Toxicodendron Dermatitis

Dermatitis, Toxicodendron

Contact Dermatitis Due To Genus Toxicodendron

Rhus Dermatitis

Dermatitis Toxicodendron

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Nail Disease

Nail Diseases

Abnormality Of The Nail

Nail Anomaly

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Immunodeficiency 27b

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

IMD27B

Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

Ifngr1 Deficiency, Autosomal Dominant

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27b, Mycobacteriosis, Ad

Autosomal Dominant Ifngr1 Deficiency

Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant

Lymphoma, Mucosa-Associated Lymphoid Type

Malt Lymphoma

Gastric Lymphoma, Primary

Lymphoma, Malt, Somatic

Mucosa-Associated Lymphoid Tissue Lymphoma

Extranodal Marginal Zone B-Cell Lymphoma

MALTOMA

Marginal Zone B-Cell Lymphoma

Mucosa-Associated Lymphatic Tissue Lymphoma

Primary Gastric Lymphoma

Gastric Lymphoma

Familial Primary Gastric Lymphoma

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus IKBKG VGNC VGNC:67752
Mus musculus IKBKG MGD MGI:1338074
Canis familiaris IKBKG VGNC VGNC:41922
Macaca mulatta IKBKG VGNC VGNC:73704
Bos taurus IKBKG VGNC VGNC:30102
Rattus norvegicus IKBKG RGD RGD:735223
Others IKBKG NCBI