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

    Gene ID: 23078, updated on 3-Nov-2024

    Summary

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    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 hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), fat (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VWA8 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41566835..41961109, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40785956..41180365, complement)
    RS_2024_09 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

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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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    Related articles in PubMed

    1. A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2. Imanaka T, et al. J Biochem, 2020 May 1. PMID 32027355
    2. A genome-wide association study of bipolar disorder and comorbid migraine. Oedegaard KJ, et al. Genes Brain Behav, 2010 Oct. PMID 20528957, Free PMC Article
    3. Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. Kong L, et al. J Med Genet, 2023 Oct. PMID 37012052
    4. Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish. Umair M, et al. Front Cell Dev Biol, 2021. PMID 34660594, Free PMC Article
    5. Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8). Luo M, et al. Biochem Biophys Res Commun, 2017 Jun 3. PMID 28414126, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
      Title: Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
    2. A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.
      Title: A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.
    3. Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)
      Title: A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide scan for common alleles affecting risk for autism.
    5. 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.
    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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 HTP PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001009814.2 → NP_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:105 → 261
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:442 → 585
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_015058.2 → NP_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:1713 → 1902
      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:105 → 261
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:442 → 585
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A3KMH1.2 GenPept UniProtKB/Swiss-Prot:A3KMH1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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