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VWA5B2 von Willebrand factor A domain containing 5B2 [ Homo sapiens (human) ]

Gene ID: 90113, updated on 13-Mar-2020

Summary

Official Symbol
VWA5B2provided by HGNC
Official Full Name
von Willebrand factor A domain containing 5B2provided by HGNC
Primary source
HGNC:HGNC:25144
See related
Ensembl:ENSG00000145198
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
Expression
Biased expression in adrenal (RPKM 30.4), brain (RPKM 2.3) and 1 other tissue See more
Orthologs

Genomic context

See VWA5B2 in Genome Data Viewer
Location:
3q27.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (184229593..184242329)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183948317..183960117)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 2 subunit mu 1 Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene microRNA 1224 Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
von Willebrand factor A domain-containing protein 5B2

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_001320373.1NP_001307302.1  von Willebrand factor A domain-containing protein 5B2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC061705, AK293885, BC001200, BC136609
    Consensus CDS
    CCDS82881.1
    UniProtKB/Swiss-Prot
    Q8N398
    UniProtKB/TrEMBL
    B4DF13, E9PF42, Q9BVH8
    Related
    ENSP00000273794.5, ENST00000273794.5
    Conserved Domains (1) summary
    pfam13768
    Location:134282
    VWA_3; von Willebrand factor type A domain
  2. NM_138345.3NP_612354.1  von Willebrand factor A domain-containing protein 5B2 isoform 1

    See identical proteins and their annotated locations for NP_612354.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the lomger transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC061705, BC001200, BC136609
    Consensus CDS
    CCDS54686.1
    UniProtKB/Swiss-Prot
    Q8N398
    UniProtKB/TrEMBL
    Q9BVH8
    Related
    ENSP00000398688.2, ENST00000426955.6
    Conserved Domains (3) summary
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:353501
    VWA_3; von Willebrand factor type A domain
    cl26464
    Location:5651108
    Atrophin-1; Atrophin-1 family

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    184229593..184242329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513291.2XP_011511593.1  von Willebrand factor A domain-containing protein 5B2 isoform X2

    Conserved Domains (3) summary
    TIGR03788
    Location:25560
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:357505
    VWA_3; von Willebrand factor type A domain
  2. XM_011513292.2XP_011511594.1  von Willebrand factor A domain-containing protein 5B2 isoform X3

    Conserved Domains (3) summary
    TIGR03788
    Location:25556
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:353501
    VWA_3; von Willebrand factor type A domain
  3. XM_011513289.2XP_011511591.1  von Willebrand factor A domain-containing protein 5B2 isoform X1

    See identical proteins and their annotated locations for XP_011511591.1

    Conserved Domains (3) summary
    TIGR03788
    Location:25560
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:357505
    VWA_3; von Willebrand factor type A domain
  4. XM_011513288.2XP_011511590.1  von Willebrand factor A domain-containing protein 5B2 isoform X1

    See identical proteins and their annotated locations for XP_011511590.1

    Conserved Domains (3) summary
    TIGR03788
    Location:25560
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:357505
    VWA_3; von Willebrand factor type A domain
  5. XM_011513290.2XP_011511592.1  von Willebrand factor A domain-containing protein 5B2 isoform X1

    See identical proteins and their annotated locations for XP_011511592.1

    Conserved Domains (3) summary
    TIGR03788
    Location:25560
    marine_srt_targ; marine proteobacterial sortase target protein
    pfam13757
    Location:279
    VIT_2; Vault protein inter-alpha-trypsin domain
    pfam13768
    Location:357505
    VWA_3; von Willebrand factor type A domain
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