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

    Gene ID: 11275, updated on 27-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
    mouse all
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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
    • 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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    Related articles in PubMed

    1. Role of Mayven, a kelch-related protein in oligodendrocyte process formation. Williams SK, et al. J Neurosci Res, 2005 Sep 1. PMID 16035103
    2. Mayven induces c-Jun expression and cyclin D1 activation in breast cancer cells. Bu X, et al. Oncogene, 2005 Mar 31. PMID 15735724
    3. Ubiquitin ligase KLHL2 promotes the degradation and ubiquitination of ARHGEF7 protein to suppress renal cell carcinoma progression. Zhang E, et al. Am J Cancer Res, 2020. PMID 33163274, Free PMC Article
    4. hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure. Mai A, et al. Exp Cell Res, 2004 Oct 15. PMID 15383316
    5. Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation. Schumacher FR, et al. Biochem J, 2014 Jun 1. PMID 24641320, Free PMC Article

    See all (39) citations in PubMed

    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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