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    VWA8 von Willebrand factor A domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 23078, updated on 7-Apr-2024

    Summary

    Official Symbol
    VWA8provided by HGNC
    Official Full Name
    von Willebrand factor A domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:29071
    See related
    Ensembl:ENSG00000102763 MIM:617509; AllianceGenome:HGNC:29071
    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
    RP97; P7BP2; KIAA0564
    Summary
    Predicted to enable ATP binding activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), fat (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    13q14.11
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41566835..41961109, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40785956..41180365, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (42140971..42535245, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:42031872-42032549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7631 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:42038640-42038854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7632 Neighboring gene uncharacterized LOC105370174 Neighboring gene regulator of cell cycle Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32874 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:42114123-42114643 Neighboring gene uncharacterized LOC105370175 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:42127997-42128188 Neighboring gene Sharpr-MPRA regulatory region 5362 Neighboring gene microRNA 5006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:42188550-42189542 Neighboring gene FOXA motif-containing MPRA enhancer 169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5292 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:42376466-42377665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7633 Neighboring gene RNA, 7SL, cytoplasmic 515, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7635 Neighboring gene RNA, U6 small nuclear 74, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:42518810-42519310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:42519311-42519811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:42533478-42533978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:42533979-42534479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5293 Neighboring gene lysyl-tRNA synthetase 1 pseudogene 1 Neighboring gene uncharacterized LOC105370176 Neighboring gene VWA8 antisense RNA 1 (head to head) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:42575448-42575948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:42575949-42576449 Neighboring gene ribosomal protein S28 pseudogene 8

    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

    Phenotypes

    Associated conditions

    Description Tests
    Retinitis pigmentosa 97
    MedGen: C5830579 OMIM: 620422 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21779, KIAA0564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in peroxisome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    von Willebrand factor A domain-containing protein 8
    Names
    PEX7-binding protein 2
    Pex7p-binding protein 2

    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_001009814.2NP_001009814.1  von Willebrand factor A domain-containing protein 8 isoform b precursor

      See identical proteins and their annotated locations for NP_001009814.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AL442203, BC053674
      Consensus CDS
      CCDS31963.1
      UniProtKB/TrEMBL
      B3KT81
      Related
      ENSP00000281496.6, ENST00000281496.6
      Conserved Domains (2) summary
      pfam07728
      Location:105261
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:442585
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_015058.2NP_055873.1  von Willebrand factor A domain-containing protein 8 isoform a precursor

      See identical proteins and their annotated locations for NP_055873.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL160252, AL161417, AL163544, AL354833, AL442203
      Consensus CDS
      CCDS41881.1
      UniProtKB/Swiss-Prot
      A3KMH1, O60310, Q5JTP6, Q5VW08, Q7Z6I9, Q86YC9, Q8N3E4
      Related
      ENSP00000368612.3, ENST00000379310.8
      Conserved Domains (3) summary
      cd01455
      Location:17131902
      vWA_F11C1-5a_type; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam07728
      Location:105261
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:442585
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      41566835..41961109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      40785956..41180365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)