1. Gene
  2. KLHL2 - kelch like family member 2 Gene

KLHL2 - kelch like family member 2 Gene

中文名称:kelch 样家族成员 2

种属: Homo sapiens

同用名: MAV; MAYVEN; ABP-KELCH

基因 ID: 11275 | 基因类型: protein coding

关于 KLHL2

Cytogenetic location: 4q32.3 Genomic coordinates (GRCh38): 4:165,207,561-165,323,156 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues and 54 paralogues. Ubiquitous expression in brain (RPKM 27.3), esophagus (RPKM 8.4) and 24 other tissues.

功能概要

启用肌动蛋白结合活性和相同的蛋白质结合活性。预测参与蛋白质泛素化。位于肌动蛋白细胞骨架中。 [由基因组资源联盟提供,2022 年 4 月]

Enables actin binding activity and identical protein binding activity. Predicted to be involved in protein ubiquitination. Located in actin Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

KLHL2 基因产物(5)

mRNA Protein Name
NM_001161521.1 NP_001154993.1 kelch-like protein 2 isoform 2
NM_001161522.1 NP_001154994.1 kelch-like protein 2 isoform 3
NM_001331023.2 NP_001317952.1 kelch-like protein 2 isoform 4
NM_001331024.2 NP_001317953.1 kelch-like protein 2 isoform 5
NM_007246.4 NP_009177.3 kelch-like protein 2 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin binding IDA
IDA: 通过直接分析推断
10397770 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
23838290 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin cytoskeleton IDA
IDA: 通过直接分析推断
10397770 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

KLHL2 蛋白结构

BTB

BTB: BTB/POZ domain (46 - 152)

BACK

BACK: BTB And C-terminal Kelch (158 - 260)

Kelch_1

Kelch_1: Kelch motif (309 - 340)

Kelch_1

Kelch_1: Kelch motif (342 - 387)

Kelch_1

Kelch_1: Kelch motif (389 - 434)

Kelch_1

Kelch_1: Kelch motif (436 - 483)

Kelch_1

Kelch_1: Kelch motif (485 - 530)

Kelch_1

Kelch_1: Kelch motif (533 - 576)

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  • 500
  • 593 a.a.
蛋白主名 其他名称

kelch-like protein 2

actin-binding protein Mayven

KLHL2 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
种属内
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
种属内
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
种属内
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
种属内
KLHL2 O95198 BCAM Homo sapiens P50895 25416956
种属内
KLHL2 O95198 BCAM Homo sapiens P50895 25416956
种属内
KLHL2 O95198 UBE2C Homo sapiens Q5TZN3 25416956
种属内
KLHL2 O95198 CCDC43 Homo sapiens Q86WV7 25416956
种属内
KLHL2 O95198 CCDC43 Homo sapiens Q86WV7 25416956
种属内
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 32296183
种属内
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 25416956
种属内
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 31515488
种属内
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 25416956
种属内
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 25416956
种属内
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 32296183
种属内
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 25416956
种属内
KLHL2 O95198 MFAP1 Homo sapiens P55081 32296183
种属内
KLHL2 O95198 PADI6 Homo sapiens Q6TGC4 32296183
种属内
KLHL2 O95198 CIMIP1 Homo sapiens Q9H1P6 32296183
种属内
KLHL2 O95198 PIBF1 Homo sapiens Q4G0R1 32296183
种属内
KLHL2 O95198 TXNDC12 Homo sapiens O95881 25416956
种属内
KLHL2 O95198 TXNDC12 Homo sapiens O95881 25416956
种属内
KLHL2 O95198 CDC37 Homo sapiens Q16543 32296183
种属内
KLHL2 O95198 BYSL Homo sapiens Q13895 32296183
种属内
KLHL2 O95198 CWC22 Homo sapiens Q9HCG8 32296183
种属内
KLHL2 O95198 NAP1L2 Homo sapiens Q9ULW6 32296183
种属内
KLHL2 O95198 CUL3 Homo sapiens Q13618 30190310
种属内
KLHL2 O95198 CUL3 Homo sapiens Q13618 25416956
种属内
KLHL2 O95198 POLR3C Homo sapiens Q9BUI4 32296183
种属内
KLHL2 O95198 SDCBP Homo sapiens O00560 25416956
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 16189514
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 33961781
种属内
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 30190310
种属内
KLHL2 O95198 NTAQ1 Homo sapiens Q96HA8 32296183
种属内
KLHL2 O95198 ELOA Homo sapiens Q14241 32296183
种属内
KLHL2 O95198 CLK2 Homo sapiens P49760 32296183
种属内
KLHL2 O95198 CLK2 Homo sapiens P49760 25416956
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 33961781
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 30190310
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 30190310
种属内
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
种属内
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 33961781
种属内
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
种属内
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
种属内
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
种属内
KLHL2 O95198 TRIM50 Homo sapiens Q86XT4 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KLHL2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76470 KLHL2 Protein, Human (His) O95198-1 (M1-P306) ≥95%

关联疾病

疾病名称 别名
Variola Minor

Alastrim

Cottonpox

Milkpox

Whitepox

Mixed Malaria

Malaria By More Than One Parasite

Malaria Fever By More Than One Parasite

Monkeypox

Monkeypox Virus Infections

Plasmodium Ovale Malaria

Ovale Malaria

Malariaby Plasmodium Ovale

Nemaline Myopathy 6

NEM6

Nemaline Myopathy 6, Autosomal Dominant

Myopathy, Nemaline, Type 6

Crisponi/Cold-Induced Sweating Syndrome 1

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

CISS1

Sohar-Crisponi Syndrome

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death

Plasmodium Vivax Malaria

Malaria, Vivax

Malaria By Plasmodium Vivax

Vivax Malaria

Malaria Vivax

Nemaline Myopathy 8

NEM8

Nemaline Myopathy 8, Autosomal Recessive

Myopathy, Nemaline, Type 8

Milker'S Nodule

Poxviridae Infections

Milker Nodule

Milkers' Node

Paravaccinia

Pseudocowpox

Milker'S Nodes

Variola Major

Smallpox

Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive

Congenital Myopathy With Excess Of Thin Filaments

NEM3

Myopathy, Actin, Congenital, With Cores

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Actin-Accumulation Myopathy

Actin Myopathy

Actin Accumulation Myopathy

Actin Filament Aggregate Myopathy

Nemaline Myopathy, Type 3

MPCETM

Acta1-Related Nemaline Myopathy

Actin Myopathy Congenital With Cores

Nemaline Myopathy 3 With Intranuclear Rods

Myopathy, Nemaline, Type 3

Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42

Intraorbital Meningioma
Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Arts Syndrome

ARTS

Mrxsarts

Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision

Mrxs18

Lethal Ataxia With Deafness And Optic Atrophy

Fatal X-Linked Ataxia With Deafness And Loss Of Vision

Mental Retardation, X-Linked, Syndromic, Arts Type

Mental Retardation, X-Linked, Syndromic 18

Syndromic X-Linked Mental Retardation 18

Syndromic X-Linked Mental Retardation Arts Type

Lethal Ataxia-Deafness-Optic Atrophy

X-Linked Fatal Ataxia With Deafness And Loss Of Vision

Ataxia-Deafness-Optic Atrophy, Lethal

Lethal Ataxia With Hearing Loss And Optic Atrophy

Art

Contagious Pustular Dermatitis

Ecthyma, Contagious

Orf

Ecthyma Contagiosum

Scabby Mouth

Sheep Pox

Thistle Disease

Contagious Pustular Dermatosis

Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced

Parasitic Protozoa Infectious Disease

Protozoan Infections

Mastigophora Infectious Disease

Sarcomastigophora Infectious Disease

Cowpox

Yaba

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British

Fbd

Presenile Dementia With Spastic Ataxia

Familial British Dementia

Abri Amyloidosis

Cerebral Amyloid Angiopathy, British Type

Itm2b-Related Cerebral Amyloid Angiopathy 1

Familial Dementia, British Type

Cerebral Amyloid Angiopathy, Itm2b-Related 1

CAA-ITM2B1

Cerebral Amyloid Angiopathy British Type

Dementia, Familial, British

Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]

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
Mus musculus KLHL2 MGD MGI:1924363
Macaca mulatta KLHL2 VGNC VGNC:74185
Canis familiaris KLHL2 VGNC VGNC:42454
Bos taurus KLHL2 VGNC VGNC:30648
Felis catus KLHL2 VGNC VGNC:67958
Rattus norvegicus KLHL2 RGD RGD:1306388
Others KLHL2 NCBI