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

    Gene ID: 11275, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001161521.1NP_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:490534
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:60577
      BTB; Broad-Complex, Tramtrack and Bric a brac
    2. NM_001161522.1NP_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:22485
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:398442
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:65194
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
    3. NM_001331023.2NP_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:320364
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:1407
      BTB; Broad-Complex, Tramtrack and Bric a brac
    4. NM_001331024.2NP_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:32476
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:389433
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:56185
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
    5. NM_007246.4NP_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:56573
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:486530
      Kelch; KELCH repeat [structural motif]
      cd18338
      Location:35155
      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:153282
      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_047449560.1XP_047305516.1  kelch-like protein 2 isoform X1

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

      Conserved Domains (4) summary
      PHA03098
      Location:18535
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:448492
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:115244
      BACK_KLHL2_Mayven; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 2 (KLHL2)
      cl38908
      Location:1117
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    3. XM_011531572.3XP_011529874.1  kelch-like protein 2 isoform X3

      Conserved Domains (7) summary
      smart00612
      Location:537583
      Kelch; Kelch domain
      PHA03098
      Location:89613
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:526570
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:90189
      BTB; BTB/POZ domain
      pfam01344
      Location:429474
      Kelch_1; Kelch motif
      pfam07707
      Location:198300
      BACK; BTB And C-terminal Kelch
      pfam13900
      Location:5790
      GVQW; Putative domain of unknown function
    4. XM_047449561.1XP_047305517.1  kelch-like protein 2 isoform X2

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

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

    7. XM_011531576.4XP_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:32476
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:389433
      Kelch; KELCH repeat [structural motif]
      cd18512
      Location:56185
      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_054348838.1XP_054204813.1  kelch-like protein 2 isoform X1

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

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

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

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

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

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

      UniProtKB/TrEMBL
      E9PEX9