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

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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  • 593 a.a.
蛋白主名 其他名称

kelch-like protein 2

actin-binding protein Mayven

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