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

KLHL2 - kelch like family member 2 Gene

Homo sapiens

Also known as MAV; MAYVEN; ABP-KELCH

Gene ID: 11275 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

kelch-like protein 2

actin-binding protein Mayven

Recombinant KLHL2 Proteins

Cat. No. Product Name Accession Purity
HY-P76470 KLHL2 Protein, Human (His) O95198-1 (M1-P306) ≥95%

Related Diseases

Diseases Alias
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]

Diseases Alias
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

Orthologs Information

Species Symbol Source 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