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    THSD7A thrombospondin type 1 domain containing 7A [ Homo sapiens (human) ]

    Gene ID: 221981, updated on 10-Dec-2024

    Summary

    Official Symbol
    THSD7Aprovided by HGNC
    Official Full Name
    thrombospondin type 1 domain containing 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:22207
    See related
    Ensembl:ENSG00000005108 MIM:612249; AllianceGenome:HGNC:22207
    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
    Summary
    The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
    Expression
    Broad expression in kidney (RPKM 4.1), placenta (RPKM 2.1) and 17 other tissues See more
    Orthologs
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    Genomic context

    See THSD7A in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (11370365..11832198, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (11501328..11963096, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (11409992..11871824, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene nucleophosmin 1 pseudogene 11 Neighboring gene uncharacterized LOC124901590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:11432079-11432579 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:11449574-11449781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:11537706-11538206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:11538207-11538707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17976 Neighboring gene uncharacterized LOC105375151 Neighboring gene Sharpr-MPRA regulatory region 6026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:11871421-11871961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:11871962-11872501 Neighboring gene THRAP3 pseudogene 3 Neighboring gene uncharacterized LOC124901589 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:12105584-12106783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25662 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:12250602-12251120 and GRCh37_chr7:12251121-12251637 Neighboring gene MPRA-validated peak6387 silencer Neighboring gene transmembrane protein 106B

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (15 hits/1252 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • KIAA0960

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization  
    involved_in angiogenesis  
    involved_in cell differentiation  
    Component Evidence Code Pubs
    located_in cell projection  
    located_in extracellular region  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    thrombospondin type-1 domain-containing protein 7A
    Names
    thrombospondin, type I, domain containing 7A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027670.2 RefSeqGene

      Range
      5000..466833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015204.3 → NP_056019.1  thrombospondin type-1 domain-containing protein 7A precursor

      See identical proteins and their annotated locations for NP_056019.1

      Status: REVIEWED

      Source sequence(s)
      AA297188, AB023177, AC004160, AC004614, AK001884, AK092252, BC030083, BF111945
      Consensus CDS
      CCDS47543.1
      UniProtKB/Swiss-Prot
      Q9UPZ6
      Related
      ENSP00000406482.2, ENST00000423059.9
      Conserved Domains (2) summary
      smart00209
      Location:197 → 247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364 → 412
      TSP_1; Thrombospondin type 1 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      11370365..11832198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715662.2 → XP_006715725.1  thrombospondin type-1 domain-containing protein 7A isoform X4

      Conserved Domains (2) summary
      smart00209
      Location:197 → 247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364 → 412
      TSP_1; Thrombospondin type 1 domain
    2. XM_006715660.2 → XP_006715723.1  thrombospondin type-1 domain-containing protein 7A isoform X3

      Conserved Domains (2) summary
      smart00209
      Location:197 → 247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364 → 412
      TSP_1; Thrombospondin type 1 domain
    3. XM_006715659.2 → XP_006715722.1  thrombospondin type-1 domain-containing protein 7A isoform X1

      Conserved Domains (2) summary
      smart00209
      Location:197 → 247
      TSP1; Thrombospondin type 1 repeats
      cl15278
      Location:364 → 412
      TSP_1; Thrombospondin type 1 domain
    4. XM_047420039.1 → XP_047275995.1  thrombospondin type-1 domain-containing protein 7A isoform X2

    5. XM_047420040.1 → XP_047275996.1  thrombospondin type-1 domain-containing protein 7A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      11501328..11963096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357563.1 → XP_054213538.1  thrombospondin type-1 domain-containing protein 7A isoform X4

    2. XM_054357562.1 → XP_054213537.1  thrombospondin type-1 domain-containing protein 7A isoform X3

    3. XM_054357559.1 → XP_054213534.1  thrombospondin type-1 domain-containing protein 7A isoform X1

    4. XM_054357561.1 → XP_054213536.1  thrombospondin type-1 domain-containing protein 7A isoform X2

    5. XM_054357560.1 → XP_054213535.1  thrombospondin type-1 domain-containing protein 7A isoform X2

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