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VWA3B von Willebrand factor A domain containing 3B [ Homo sapiens (human) ]

Gene ID: 200403, updated on 3-Apr-2024

Summary

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Official Symbol
VWA3Bprovided by HGNC
Official Full Name
von Willebrand factor A domain containing 3Bprovided by HGNC
Primary source
HGNC:HGNC:28385
See related
Ensembl:ENSG00000168658 MIM:614884; AllianceGenome:HGNC:28385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCAR22
Summary
This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]
Expression
Restricted expression toward testis (RPKM 15.5) See more
Orthologs
mouse all
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Genomic context

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Location:
2q11.2
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (98087167..98330616)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (98545383..98788821)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (98703630..98929762)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16252 Neighboring gene MIR2 retrotransposon enhancer-blocking element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11798 Neighboring gene uncharacterized LOC105373501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98663772-98664272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98664273-98664773 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:98670618-98671817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98703358-98703858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98703859-98704359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98733463-98733964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98733965-98734464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11799 Neighboring gene Sharpr-MPRA regulatory region 9320 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:98746447-98747273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98748232-98748818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98748819-98749404 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:98750133-98751332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98779443-98779989 Neighboring gene NANOG hESC enhancer GRCh37_chr2:98808643-98809198 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:98810042-98810239 Neighboring gene ATP synthase F1 subunit beta pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98896664-98897164 Neighboring gene NANOG hESC enhancer GRCh37_chr2:98933593-98934329 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:98950857-98951787 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98963419-98963930 Neighboring gene Sharpr-MPRA regulatory region 13649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98993983-98994750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98998693-98999270 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:98999847-99000424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99000425-99001000 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99004561-99004748 Neighboring gene cyclic nucleotide gated channel subunit alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16257 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:99051832-99053031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99079757-99080272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99082317-99082881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16265 Neighboring gene inositol polyphosphate-4-phosphatase type I A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99136086-99136586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99136587-99137087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99170837-99171337 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99176784-99176955 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99190711-99190893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:99200423-99200924 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99209219-99209372

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 homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. Kawarai T, et al. J Neurol Neurosurg Psychiatry, 2016 Jun. PMID 26157035
  2. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Leparc GG, et al. Nucleic Acids Res, 2007. PMID 17452356, Free PMC Article
  3. Hereditary Ataxia Overview. Adam MP, et al. , 1993. PMID 20301317
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (9) 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

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 22
MedGen: C4310781 OMIM: 616948 GeneReviews: Not available
Compare labs

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

  • FLJ32686, MGC26733

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
von Willebrand factor A domain-containing protein 3B
Names
VWA domain-containing protein 3B

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.

Genomic

  1. NG_054753.1 RefSeqGene

    Range
    5036..231168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001345864.2 → NP_001332793.1  von Willebrand factor A domain-containing protein 3B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC092675, AC112788, AK295743, AL834385
    UniProtKB/TrEMBL
    B7Z3D8

  2. NM_144992.5 → NP_659429.4  von Willebrand factor A domain-containing protein 3B isoform 1

    See identical proteins and their annotated locations for NP_659429.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC018691, AC092675, AL834385, BC095480, DB090320
    Consensus CDS
    CCDS42718.1
    UniProtKB/Swiss-Prot
    B9EK71, Q502W6, Q86T73, Q8N2D0, Q8N770, Q8NA79, Q8ND63, Q8ND65, Q8WW02
    Related
    ENSP00000417955.1, ENST00000477737.6
    Conserved Domains (3) summary
    cd00198
    Location:508 → 659
    vWFA; 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 ...
    pfam15057
    Location:1037 → 1161
    DUF4537; Domain of unknown function (DUF4537)
    cl00057
    Location:142 → 293
    vWFA; 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 ...

RNA

  1. NR_144296.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two alternate exons and lacks another alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018691, AC092675, AC112788, AL832761
    Related
    ENST00000432242.5

  2. NR_144297.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon, contains another alternate exon, and differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018691, BC026091, BI463112
    Related
    ENST00000416277.5

  3. NR_144298.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate exons and differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC018691, AK057248, BI463112
    Related
    ENST00000448638.5

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    98087167..98330616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510772.2 → XP_011509074.1  von Willebrand factor A domain-containing protein 3B isoform X4

    Conserved Domains (3) summary
    cd00198
    Location:508 → 659
    vWFA; 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 ...
    cl00057
    Location:142 → 293
    vWFA; 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 ...
    cl02573
    Location:1037 → 1115
    TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...

  2. XM_011510770.2 → XP_011509072.1  von Willebrand factor A domain-containing protein 3B isoform X2

    Conserved Domains (3) summary
    cd00198
    Location:508 → 659
    vWFA; 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 ...
    pfam15057
    Location:1020 → 1144
    DUF4537; Domain of unknown function (DUF4537)
    cl00057
    Location:142 → 293
    vWFA; 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 ...

  3. XM_005263897.3 → XP_005263954.1  von Willebrand factor A domain-containing protein 3B isoform X1

    UniProtKB/Swiss-Prot
    Q502W6
    Conserved Domains (3) summary
    cd00198
    Location:508 → 659
    vWFA; 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 ...
    pfam15057
    Location:1037 → 1161
    DUF4537; Domain of unknown function (DUF4537)
    cl00057
    Location:142 → 293
    vWFA; 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 ...

  4. XM_011510771.3 → XP_011509073.1  von Willebrand factor A domain-containing protein 3B isoform X3

    Conserved Domains (3) summary
    cd00198
    Location:466 → 617
    vWFA; 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 ...
    pfam15057
    Location:995 → 1119
    DUF4537; Domain of unknown function (DUF4537)
    cl00057
    Location:142 → 293
    vWFA; 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 ...

  5. XM_017003564.2 → XP_016859053.1  von Willebrand factor A domain-containing protein 3B isoform X7

  6. XM_011510774.1 → XP_011509076.1  von Willebrand factor A domain-containing protein 3B isoform X8

    Conserved Domains (2) summary
    cd00198
    Location:508 → 659
    vWFA; 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 ...
    cl00057
    Location:142 → 293
    vWFA; 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 ...

  7. XM_047443648.1 → XP_047299604.1  von Willebrand factor A domain-containing protein 3B isoform X12

    Related
    ENSP00000388158.1, ENST00000433678.5

  8. XM_011510775.3 → XP_011509077.1  von Willebrand factor A domain-containing protein 3B isoform X11

    Conserved Domains (2) summary
    cd00198
    Location:508 → 612
    vWFA; 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 ...
    cl00057
    Location:142 → 293
    vWFA; 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 ...

  9. XM_047443640.1 → XP_047299596.1  von Willebrand factor A domain-containing protein 3B isoform X5

  10. XM_047443641.1 → XP_047299597.1  von Willebrand factor A domain-containing protein 3B isoform X6

  11. XM_017003561.2 → XP_016859050.1  von Willebrand factor A domain-containing protein 3B isoform X6

    UniProtKB/TrEMBL
    B7Z3D8
    Conserved Domains (2) summary
    cd00198
    Location:165 → 316
    vWFA; 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 ...
    pfam15057
    Location:694 → 818
    DUF4537; Domain of unknown function (DUF4537)

  12. XM_017003562.2 → XP_016859051.1  von Willebrand factor A domain-containing protein 3B isoform X6

    UniProtKB/TrEMBL
    B7Z3D8
    Conserved Domains (2) summary
    cd00198
    Location:165 → 316
    vWFA; 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 ...
    pfam15057
    Location:694 → 818
    DUF4537; Domain of unknown function (DUF4537)

  13. XM_006712359.4 → XP_006712422.1  von Willebrand factor A domain-containing protein 3B isoform X9

    UniProtKB/TrEMBL
    H0YEM4
    Conserved Domains (2) summary
    cd00198
    Location:27 → 178
    vWFA; 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 ...
    pfam15057
    Location:556 → 680
    DUF4537; Domain of unknown function (DUF4537)

  14. XM_047443645.1 → XP_047299601.1  von Willebrand factor A domain-containing protein 3B isoform X10

    Related
    ENSP00000436153.1, ENST00000473149.5

RNA

  1. XR_922885.4 RNA Sequence

  2. XR_922884.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    98545383..98788821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340936.1 → XP_054196911.1  von Willebrand factor A domain-containing protein 3B isoform X4

  2. XM_054340934.1 → XP_054196909.1  von Willebrand factor A domain-containing protein 3B isoform X2

  3. XM_054340933.1 → XP_054196908.1  von Willebrand factor A domain-containing protein 3B isoform X1

  4. XM_054340935.1 → XP_054196910.1  von Willebrand factor A domain-containing protein 3B isoform X3

  5. XM_054340941.1 → XP_054196916.1  von Willebrand factor A domain-containing protein 3B isoform X7

  6. XM_054340942.1 → XP_054196917.1  von Willebrand factor A domain-containing protein 3B isoform X8

  7. XM_054340946.1 → XP_054196921.1  von Willebrand factor A domain-containing protein 3B isoform X12

  8. XM_054340945.1 → XP_054196920.1  von Willebrand factor A domain-containing protein 3B isoform X11

  9. XM_054340937.1 → XP_054196912.1  von Willebrand factor A domain-containing protein 3B isoform X5

  10. XM_054340939.1 → XP_054196914.1  von Willebrand factor A domain-containing protein 3B isoform X6

  11. XM_054340938.1 → XP_054196913.1  von Willebrand factor A domain-containing protein 3B isoform X6

  12. XM_054340940.1 → XP_054196915.1  von Willebrand factor A domain-containing protein 3B isoform X6

  13. XM_054340943.1 → XP_054196918.1  von Willebrand factor A domain-containing protein 3B isoform X9

  14. XM_054340944.1 → XP_054196919.1  von Willebrand factor A domain-containing protein 3B isoform X10

RNA

  1. XR_008486303.1 RNA Sequence

  2. XR_008486302.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q502W6.3 GenPept UniProtKB/Swiss-Prot:Q502W6

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