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

Gene ID: 23078, updated on 5-Apr-2020

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:
45
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (41566835..41961109, 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 lysyl-tRNA synthetase 1 pseudogene 1 Neighboring gene uncharacterized LOC105370176 Neighboring gene VWA8 antisense RNA 1 (head to head) 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

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_015058.2NP_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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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