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KLHL2 kelch like family member 2 [ Homo sapiens (human) ]

Gene ID: 11275, updated on 2-Nov-2024

Summary

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Official Symbol
KLHL2provided by HGNC
Official Full Name
kelch like family member 2provided by HGNC
Primary source
HGNC:HGNC:6353
See related
Ensembl:ENSG00000109466 MIM:605774; AllianceGenome:HGNC:6353
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAV; MAYVEN; ABP-KELCH
Summary
Enables actin binding activity; identical protein binding activity; and ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in protein ubiquitination. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 27.3), esophagus (RPKM 8.4) and 24 other tissues See more
Orthologs
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Genomic context

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See KLHL2 in Genome Data Viewer
Location:
4q32.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (165207561..165323156)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (168553548..168669151)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (166128713..166244308)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:165990521-165991020 Neighboring gene tripartite motif containing 75 Neighboring gene transmembrane protein 192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15782 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:166033986-166034184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:166128334-166128834 Neighboring gene NANOG hESC enhancer GRCh37_chr4:166135415-166135959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22117 Neighboring gene RNA, U4 small nuclear 87, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:166201239-166201740 Neighboring gene U2 spliceosomal RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22118 Neighboring gene glycerol kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22119 Neighboring gene Sharpr-MPRA regulatory region 3657 Neighboring gene uncharacterized LOC105377519 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:166272600-166273799 Neighboring gene methylsterol monooxygenase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Co-expression of KLHL2 and Cullin3 decreases the abundance of WNK1, WNK3 and WNK4 within HEK293T cells.
    Title: KLHL2 interacts with and ubiquitinates WNK kinases.
  2. Results suggest a novel E3 ubiquitin ligase function of KLHL2, with NPCD as a substrate.
    Title: Interaction of an intracellular pentraxin with a BTB-Kelch protein is associated with ubiquitylation, aggregation and neuronal apoptosis.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. overexpression of Mayven may promote tumor growth through c-Jun and cyclin D1
    Title: Mayven induces c-Jun expression and cyclin D1 activation in breast cancer cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin-like ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Cul3-RING ubiquitin ligase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kelch-like protein 2
Names
actin-binding protein Mayven
kelch-like 2, Mayven

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161521.1 → NP_001154993.1  kelch-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001154993.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AI814691, AK294103, BC036468, DA250099
    Consensus CDS
    CCDS54815.1
    UniProtKB/Swiss-Prot
    O95198
    Related
    ENSP00000424198.1, ENST00000514860.5
    Conserved Domains (2) summary
    sd00038
    Location:490 → 534
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:60 → 577
    BTB; Broad-Complex, Tramtrack and Bric a brac

  2. NM_001161522.1 → NP_001154994.1  kelch-like protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001154994.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AI814691, BC036468, BX647776, DA250099
    Consensus CDS
    CCDS54816.1
    UniProtKB/Swiss-Prot
    O95198
    Related
    ENSP00000437526.1, ENST00000538127.5
    Conserved Domains (3) summary
    PHA03098
    Location:22 → 485
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:398 → 442
    Kelch; KELCH repeat [structural motif]
    cd18512
    Location:65 → 194
    BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)

  3. NM_001331023.2 → NP_001317952.1  kelch-like protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and lacks two consecutive exons in the 5' coding region compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC055120, AI814691, AL541403, BC022503, BC036468
    Consensus CDS
    CCDS82975.1
    UniProtKB/TrEMBL
    B4DFZ5
    Related
    ENSP00000424108.1, ENST00000506761.1
    Conserved Domains (2) summary
    sd00038
    Location:320 → 364
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:1 → 407
    BTB; Broad-Complex, Tramtrack and Bric a brac

  4. NM_001331024.2 → NP_001317953.1  kelch-like protein 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and lacks an exon in the 5' coding region compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (5) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC055120, AI814691, AL541403, BC022503, BC036468, BP276971
    Consensus CDS
    CCDS82974.1
    UniProtKB/TrEMBL
    E9PEX9
    Conserved Domains (3) summary
    PHA03098
    Location:32 → 476
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:389 → 433
    Kelch; KELCH repeat [structural motif]
    cd18512
    Location:56 → 185
    BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)

  5. NM_007246.4 → NP_009177.3  kelch-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_009177.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC055120, AI814691, AL541403, BC022503, BC036468
    Consensus CDS
    CCDS34094.1
    UniProtKB/Swiss-Prot
    A6NCM7, B2RD18, B4DFH7, F5H6M3, O95198, Q8N484, Q8TBH5
    Related
    ENSP00000226725.6, ENST00000226725.11
    Conserved Domains (4) summary
    PHA03098
    Location:56 → 573
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:486 → 530
    Kelch; KELCH repeat [structural motif]
    cd18338
    Location:35 → 155
    BTB_POZ_KLHL2_Mayven; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 2 (KLHL2)
    cd18512
    Location:153 → 282
    BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    165207561..165323156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449560.1 → XP_047305516.1  kelch-like protein 2 isoform X1

  2. XM_017007674.2 → XP_016863163.1  kelch-like protein 2 isoform X4

    Conserved Domains (4) summary
    PHA03098
    Location:18 → 535
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:448 → 492
    Kelch; KELCH repeat [structural motif]
    cd18512
    Location:115 → 244
    BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
    cl38908
    Location:1 → 117
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

  3. XM_011531572.3 → XP_011529874.1  kelch-like protein 2 isoform X3

    Conserved Domains (7) summary
    smart00612
    Location:537 → 583
    Kelch; Kelch domain
    PHA03098
    Location:89 → 613
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:526 → 570
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:90 → 189
    BTB; BTB/POZ domain
    pfam01344
    Location:429 → 474
    Kelch_1; Kelch motif
    pfam07707
    Location:198 → 300
    BACK; BTB And C-terminal Kelch
    pfam13900
    Location:57 → 90
    GVQW; Putative domain of unknown function

  4. XM_047449561.1 → XP_047305517.1  kelch-like protein 2 isoform X2

  5. XM_017007675.3 → XP_016863164.2  kelch-like protein 2 isoform X5

  6. XM_047449562.1 → XP_047305518.1  kelch-like protein 2 isoform X7

  7. XM_011531576.4 → XP_011529878.1  kelch-like protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011529878.1

    UniProtKB/TrEMBL
    E9PEX9
    Related
    ENSP00000408974.2, ENST00000421009.6
    Conserved Domains (3) summary
    PHA03098
    Location:32 → 476
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:389 → 433
    Kelch; KELCH repeat [structural motif]
    cd18512
    Location:56 → 185
    BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    168553548..168669151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348838.1 → XP_054204813.1  kelch-like protein 2 isoform X1

  2. XM_054348841.1 → XP_054204816.1  kelch-like protein 2 isoform X4

  3. XM_054348840.1 → XP_054204815.1  kelch-like protein 2 isoform X3

  4. XM_054348839.1 → XP_054204814.1  kelch-like protein 2 isoform X2

  5. XM_054348842.1 → XP_054204817.1  kelch-like protein 2 isoform X5

  6. XM_054348844.1 → XP_054204819.1  kelch-like protein 2 isoform X7

  7. XM_054348843.1 → XP_054204818.1  kelch-like protein 2 isoform X6

    UniProtKB/TrEMBL
    E9PEX9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95198.2 GenPept UniProtKB/Swiss-Prot:O95198

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