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    VSTM4 V-set and transmembrane domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 196740, updated on 27-Nov-2024

    Summary

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    Official Symbol
    VSTM4provided by HGNC
    Official Full Name
    V-set and transmembrane domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:26470
    See related
    Ensembl:ENSG00000165633 AllianceGenome:HGNC:26470
    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
    C10orf72
    Summary
    Predicted to act upstream of or within several processes, including endothelial cell proliferation; retina blood vessel maintenance; and vasculature development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 18.4), ovary (RPKM 14.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VSTM4 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49014236..49115522, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (49863442..49964410, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50222281..50323567, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene WDFY family member 4 Neighboring gene leucine rich repeat containing 18 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:50156438-50157637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50160179-50160678 Neighboring gene uncharacterized LOC105378298 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50219965-50220220 Neighboring gene microRNA 4294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3345 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50264962-50265148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50316573-50317551 Neighboring gene uncharacterized LOC124902545 Neighboring gene FAM170B antisense RNA 1 Neighboring gene family with sequence similarity 170 member B

    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 genome-wide association study of serum uric acid in African Americans. Charles BA, et al. BMC Med Genomics, 2011 Feb 4. PMID 21294900, Free PMC Article
    2. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349
    3. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Anttila V, et al. Nat Genet, 2013 Aug. PMID 23793025, Free PMC Article
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    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

    Clone Names

    • FLJ31737, MGC44086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina blood vessel maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina vasculature development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    V-set and transmembrane domain-containing protein 4

    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_001031746.5 → NP_001026916.2  V-set and transmembrane domain-containing protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001026916.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC060234, AK056299, AK297931, AW058485, BC041414, HY112498
      Consensus CDS
      CCDS31198.1
      UniProtKB/Swiss-Prot
      B4DNI6, Q8IW00, Q96MX7
      Related
      ENSP00000331062.3, ENST00000332853.9

    2. NM_144984.4 → NP_659421.1  V-set and transmembrane domain-containing protein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_659421.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK056299, HY112498
      Consensus CDS
      CCDS7228.1
      UniProtKB/Swiss-Prot
      Q8IW00
      Related
      ENSP00000298454.3, ENST00000298454.3

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      49014236..49115522 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424711.1 → XP_047280667.1  V-set and transmembrane domain-containing protein 4 isoform X2

    2. XM_017015827.3 → XP_016871316.1  V-set and transmembrane domain-containing protein 4 isoform X1

    RNA

    1. XR_001747052.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      49863442..49964410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364993.1 → XP_054220968.1  V-set and transmembrane domain-containing protein 4 isoform X2

    2. XM_054364992.1 → XP_054220967.1  V-set and transmembrane domain-containing protein 4 isoform X1

    RNA

    1. XR_008488174.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW00.3 GenPept UniProtKB/Swiss-Prot:Q8IW00

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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