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

Gene ID: 90113, updated on 5-Mar-2024

Summary

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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 AllianceGenome:HGNC:25144
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
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Genomic context

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See VWA5B2 in Genome Data Viewer
Location:
3q27.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184229585..184242329)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187038539..187051613)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183947373..183960117)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14957 Neighboring gene Sharpr-MPRA regulatory region 464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183900972-183901486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183902780-183903494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20904 Neighboring gene adaptor related protein complex 2 subunit mu 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:183908066-183909265 Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14958 Neighboring gene Sharpr-MPRA regulatory region 15257 Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183965331-183966074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183966075-183966818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20906 Neighboring gene microRNA 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20907 Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183976879-183977065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977445-183977995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977996-183978547 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2

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
  • 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 mega-analysis of genome-wide association studies for major depressive disorder. Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, et al. Mol Psychiatry, 2013 Apr. PMID 22472876, Free PMC Article
  2. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
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

General protein information

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

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_001320373.3 → NP_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
    Consensus CDS
    CCDS82881.1
    UniProtKB/TrEMBL
    B4DF13, E9PF42
    Conserved Domains (2) summary
    PHA03247
    Location:346 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:135 → 282
    VWA_3; von Willebrand factor type A domain

  2. NM_001390839.1 → NP_001377768.1  von Willebrand factor A domain-containing protein 5B2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (3) summary
    PHA03247
    Location:569 → 1112
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:358 → 505
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  3. NM_001390840.1 → NP_001377769.1  von Willebrand factor A domain-containing protein 5B2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (2) summary
    PHA03247
    Location:346 → 889
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:135 → 282
    VWA_3; von Willebrand factor type A domain

  4. NM_001390841.1 → NP_001377770.1  von Willebrand factor A domain-containing protein 5B2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (3) summary
    PHA03247
    Location:569 → 1113
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:358 → 505
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  5. NM_001390842.1 → NP_001377771.1  von Willebrand factor A domain-containing protein 5B2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (3) summary
    PHA03247
    Location:569 → 1113
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:358 → 505
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  6. NM_001390843.1 → NP_001377772.1  von Willebrand factor A domain-containing protein 5B2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (3) summary
    PHA03247
    Location:565 → 1109
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:354 → 501
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  7. NM_001390844.1 → NP_001377773.1  von Willebrand factor A domain-containing protein 5B2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC061705
    UniProtKB/TrEMBL
    B4DF13
    Conserved Domains (3) summary
    PHA03247
    Location:565 → 1109
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:354 → 501
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  8. NM_001390846.1 → NP_001377775.1  von Willebrand factor A domain-containing protein 5B2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC061705
    Consensus CDS
    CCDS54686.1
    UniProtKB/Swiss-Prot
    B9EGN7, Q8N398
    UniProtKB/TrEMBL
    B4DF13
    Related
    ENSP00000509115.1, ENST00000691901.1
    Conserved Domains (3) summary
    PHA03247
    Location:565 → 1108
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:354 → 501
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

  9. NM_001390847.1 → NP_001377776.1  von Willebrand factor A domain-containing protein 5B2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC061705
    Consensus CDS
    CCDS82881.1
    UniProtKB/TrEMBL
    B4DF13, E9PF42
    Related
    ENSP00000273794.5, ENST00000273794.5
    Conserved Domains (2) summary
    PHA03247
    Location:346 → 890
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:135 → 282
    VWA_3; von Willebrand factor type A domain

  10. NM_138345.3 → NP_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
    B9EGN7, Q8N398
    UniProtKB/TrEMBL
    B4DF13
    Related
    ENSP00000398688.2, ENST00000426955.6
    Conserved Domains (3) summary
    PHA03247
    Location:565 → 1108
    PHA03247; large tegument protein UL36; Provisional
    pfam13768
    Location:354 → 501
    VWA_3; von Willebrand factor type A domain
    pfam13757
    Location:2 → 79
    VIT_2; Vault protein inter-alpha-trypsin domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    184229585..184242329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187038539..187051613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N398.3 GenPept UniProtKB/Swiss-Prot:Q8N398

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