1. Gene
  2. NFKB2 - nuclear factor kappa B subunit 2 Gene

NFKB2 - nuclear factor kappa B subunit 2 Gene

中文名称:核因子 kappa B 亚基 2

种属: Homo sapiens

同用名: p52; p100; H2TF1; LYT10; CVID10; LYT-10; NF-kB2; p49/p100

基因 ID: 4791 | 基因类型: protein coding

关于 NFKB2

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,394,110-102,402,529 (from NCBI)

This gene has 20 transcripts (splice variants), 125 orthologues, 4 paralogues and is associated with 58 phenotypes. Ubiquitous expression in appendix (RPKM 21.5), bone marrow (RPKM 20.6) and 25 other tissues.

功能概要

该基因编码转录因子复合核因子-kappa-B (NFkB) 的一个亚基。 NFkB 复合物在多种细胞类型中表达,并作为参与炎症和免疫功能的基因的中心激活剂发挥作用。由该基因编码的蛋白质可以作为转录激活因子或抑制因子发挥作用,具体取决于其二聚化伙伴。 p100 全长蛋白被共翻译加工成 p52 活性形式。已在 B 细胞淋巴瘤中观察到该基因座的染色体重排和易位,其中一些可能导致融合蛋白的形成。该基因在 18 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 12 月]

This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

NFKB2 基因产物(6)

mRNA Protein Name
NM_001077494.3 NP_001070962.1 nuclear factor NF-kappa-B p100 subunit isoform a
NM_001322935.1 NP_001309864.1 nuclear factor NF-kappa-B p100 subunit isoform c
NM_001322934.2 NP_001309863.1 nuclear factor NF-kappa-B p100 subunit isoform a
NM_002502.6 NP_002493.3 nuclear factor NF-kappa-B p100 subunit isoform b
NM_001261403.3 NP_001248332.1 nuclear factor NF-kappa-B p100 subunit isoform b
NM_001288724.1 NP_001275653.1 nuclear factor NF-kappa-B p100 subunit isoform b
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 DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
12835724 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12835724 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8441377 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
37816088 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12835724 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
8360178 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Bcl3/NF-kappaB2 complex IDA
IDA: 通过直接分析推断
9407099 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15677444 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15677444 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

NFKB2 蛋白结构

RHD_DNA_bind

RHD_DNA_bind: Rel homology DNA-binding domain (40 - 220)

Ank

Ank: Ankyrin repeat (487 - 509)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (522 - 586)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (605 - 698)

Death

Death: Death domain (779 - 848)

  • 0
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  • 900 a.a.
蛋白主名 其他名称

nuclear factor NF-kappa-B p100 subunit

DNA-binding factor KBF2

NFKB, p52/p100 subunit

lymphocyte translocation chromosome 10 protein

nuclear factor Kappa-B, subunit 2

nuclear factor NF-kappa-B p52 subunit

nuclear factor of Kappa light chain gene enhancer in B cells 2

nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)

oncogene Lyt-10

transcription factor NFKB2

NFKB2 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 NFKB2 Q00653 NFKB1 Homo sapiens P19838
Y2H
21988832
Intra NFKB2 Q00653 NFKB1 Homo sapiens P19838
Anti Tag CoIP
35271311
Intra NFKB2 Q00653 REL Homo sapiens Q04864
TAP
14743216
Intra NFKB2 Q00653 REL Homo sapiens Q04864
Anti Tag CoIP
35271311
Intra NFKB2 Q00653 NFKBIA Homo sapiens P25963
Anti Tag CoIP
35271311
Intra NFKB2 Q00653 NFKBIA Homo sapiens P25963
TAP
14743216
Intra NFKB2 Q00653 NFKBIB Homo sapiens Q15653
TAP
14743216
Intra NFKB2 Q00653 MAP3K8 Homo sapiens P41279
TAP
14743216
Intra NFKB2 Q00653 RELB Homo sapiens Q01201
Anti Tag CoIP
35271311
Intra NFKB2 Q00653 RELB Homo sapiens Q01201
TAP
14743216
Intra NFKB2 Q00653 SUMO1 Homo sapiens P63165
Anti Bait CoIP
18617892
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
Immunodeficiency, Common Variable, 10

CVID10

Deficit In Anterior Pituitary Function And Variable Immunodeficiency

David

Immunodeficiency, Common Variable, With Central Adrenal Insufficiency

Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome

David Syndrome

Common Variable Immunodeficiency With Central Adrenal Insufficiency

Immunodeficiency, Variable, Common, Type 10

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

B-Cell Non-Hodgkin Lymphoma

B-Cell Nhl

B-Cell Non-Hodgkins Lymphoma

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

Myeloma, Multiple

Multiple Myeloma

Kahler Disease

Myelomatosis

Plasma Cell Myeloma

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler'S Disease

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Acth Deficiency, Isolated

Adrenocorticotropic Hormone Deficiency

IAD

Congenital Isolated Acth Deficiency

Isolated Acth Deficiency

Isolated Adrenocorticotropic Hormone Deficiency

Adrenocorticotropic Hormone Deficiency

Adrenocorticotropic Hormone [Acth] Deficiency

Secondary Adrenocortical Insufficiency

Immunodeficiency, Common Variable, 1

CVID1

Antibody Deficiency Due To Icos Defect

Icos Deficiency

Immunodeficiency, Variable, Common, Type 1

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

Osteopetrosis

Albers-Schonberg Disease

Marble Bone Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Transient Hypogammaglobulinemia Of Infancy

Immunoglobulin Maturational Delay

Thi - [Transient Hypogammaglobulinaemia Of Infancy]

Asbestos-Related Lung Carcinoma
Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Acquired Hypogammaglobulinemia

Common Variable Immune Deficiency

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

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
Rattus norvegicus NFKB2 RGD RGD:1307189
Felis catus NFKB2 VGNC VGNC:68482
Mus musculus NFKB2 MGD MGI:1099800
Bos taurus NFKB2 VGNC VGNC:32044
Canis familiaris NFKB2 VGNC VGNC:43781
Others NFKB2 NCBI