KLHL2 - kelch like family member 2 Gene

Also Known as MAV; MAYVEN; ABP-KELCH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11275

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
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
10397770 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: Inferred from direct assay
23838290 GOA
Cellular Component GO Annotation Evidence References Source
located in actin cytoskeleton IDA
IDA: Inferred from direct assay
10397770 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 593 a.a.
Protein Preferred Names Protein Names

kelch-like protein 2

  • actin-binding protein Mayven

KLHL2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
Intra
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
Intra
KLHL2 O95198 UBE2I Homo sapiens Q7KZS0 32296183
Intra
KLHL2 O95198 BCAM Homo sapiens P50895 25416956
Intra
KLHL2 O95198 BCAM Homo sapiens P50895 25416956
Intra
KLHL2 O95198 UBE2C Homo sapiens Q5TZN3 25416956
Intra
KLHL2 O95198 CCDC43 Homo sapiens Q86WV7 25416956
Intra
KLHL2 O95198 CCDC43 Homo sapiens Q86WV7 25416956
Intra
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 32296183
Intra
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 25416956
Intra
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 31515488
Intra
KLHL2 O95198 ZNF114 Homo sapiens Q8NC26 25416956
Intra
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 25416956
Intra
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 32296183
Intra
KLHL2 O95198 TMA16 Homo sapiens Q96EY4 25416956
Intra
KLHL2 O95198 MFAP1 Homo sapiens P55081 32296183
Intra
KLHL2 O95198 PADI6 Homo sapiens Q6TGC4 32296183
Intra
KLHL2 O95198 CIMIP1 Homo sapiens Q9H1P6 32296183
Intra
KLHL2 O95198 PIBF1 Homo sapiens Q4G0R1 32296183
Intra
KLHL2 O95198 TXNDC12 Homo sapiens O95881 25416956
Intra
KLHL2 O95198 TXNDC12 Homo sapiens O95881 25416956
Intra
KLHL2 O95198 CDC37 Homo sapiens Q16543 32296183
Intra
KLHL2 O95198 BYSL Homo sapiens Q13895 32296183
Intra
KLHL2 O95198 CWC22 Homo sapiens Q9HCG8 32296183
Intra
KLHL2 O95198 NAP1L2 Homo sapiens Q9ULW6 32296183
Intra
KLHL2 O95198 CUL3 Homo sapiens Q13618 30190310
Intra
KLHL2 O95198 CUL3 Homo sapiens Q13618 25416956
Intra
KLHL2 O95198 POLR3C Homo sapiens Q9BUI4 32296183
Intra
KLHL2 O95198 SDCBP Homo sapiens O00560 25416956
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 16189514
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 32296183
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 33961781
Intra
KLHL2 O95198 KLHL12 Homo sapiens Q53G59 30190310
Intra
KLHL2 O95198 NTAQ1 Homo sapiens Q96HA8 32296183
Intra
KLHL2 O95198 ELOA Homo sapiens Q14241 32296183
Intra
KLHL2 O95198 CLK2 Homo sapiens P49760 32296183
Intra
KLHL2 O95198 CLK2 Homo sapiens P49760 25416956
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 33961781
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 30190310
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 30190310
Intra
KLHL2 O95198 KEAP1 Homo sapiens Q14145 32296183
Intra
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 33961781
Intra
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
Intra
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
Intra
KLHL2 O95198 KLHL3 Homo sapiens Q9UH77 32296183
Intra
KLHL2 O95198 TRIM50 Homo sapiens Q86XT4 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KLHL2 Proteins

Cat. No. Product Name Accession Purity
HY-P76470 KLHL2 Protein, Human (His) O95198-1 (M1-P306) ≥ 90%, as determined by reducing SDS-PAGE.

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