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

    Gene ID: 23078, updated on 12-Jan-2019

    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
    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
    P7BP2; KIAA0564
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), fat (RPKM 4.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See VWA8 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (41566825..41961746, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (42140961..42535221, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370174 Neighboring gene regulator of cell cycle Neighboring gene uncharacterized LOC105370175 Neighboring gene microRNA 5006 Neighboring gene FOXA motif-containing MPRA enhancer 169 Neighboring gene RNA, 7SL, cytoplasmic 515, pseudogene Neighboring gene RNA, U6 small nuclear 74, pseudogene Neighboring gene uncharacterized LOC105370176 Neighboring gene lysyl-tRNA synthetase pseudogene 1 Neighboring gene VWA8 antisense RNA 1 (head to head) Neighboring gene ribosomal protein S28 pseudogene 8 Neighboring gene mitogen-activated protein kinase 6 pseudogene 3 Neighboring gene diacylglycerol kinase eta

    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

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21779, KIAA0564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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

    NCBI Reference Sequences (RefSeq)

    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_001009814.1NP_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)
      BC053674
      Consensus CDS
      CCDS31963.1
      UniProtKB/Swiss-Prot
      A3KMH1
      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_015058.1NP_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)
      AA648780, AB011136, BC053674
      Consensus CDS
      CCDS41881.1
      UniProtKB/Swiss-Prot
      A3KMH1
      Related
      ENSP00000368612.3, ENST00000379310.7
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      41566825..41961746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020469.2XP_016875958.1  von Willebrand factor A domain-containing protein 8 isoform X1

    2. XM_006719791.4XP_006719854.1  von Willebrand factor A domain-containing protein 8 isoform X2

      Conserved Domains (3) summary
      cd01455
      Location:13581547
      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:421568
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:87230
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_017020473.1XP_016875962.1  von Willebrand factor A domain-containing protein 8 isoform X7

    4. XM_017020472.1XP_016875961.1  von Willebrand factor A domain-containing protein 8 isoform X6

    5. XM_017020470.2XP_016875959.1  von Willebrand factor A domain-containing protein 8 isoform X3

    6. XM_011535007.3XP_011533309.1  von Willebrand factor A domain-containing protein 8 isoform X4

      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
    7. XM_017020471.2XP_016875960.1  von Willebrand factor A domain-containing protein 8 isoform X5

    8. XM_017020474.2XP_016875963.1  von Willebrand factor A domain-containing protein 8 isoform X8

      UniProtKB/Swiss-Prot
      A3KMH1
      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

    RNA

    1. XR_001749518.2 RNA Sequence

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