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

    Gene ID: 90113, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184229585..184242329)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187038539..187051613)
    RS_2024_09 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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    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)

    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

      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_2024_08

    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

    Gene LinkOut

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

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