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

    Gene ID: 221981, updated on 11-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See THSD7A in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (11370365..11832198, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (11501328..11963096, complement)
    105.20220307 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

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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. Case Report: THSD7A-Positive Membranous Nephropathy Caused by Tislelizumab in a Lung Cancer Patient. Chen M, et al. Front Immunol, 2021. PMID 34040602, Free PMC Article
    2. Clinical characteristics of thrombospondin type-1 domain-containing 7A-associated membranous nephropathy. Suzuki T, et al. Ren Fail, 2020 Nov. PMID 32935600, Free PMC Article
    3. Expression of THSD7A in neoplasm tissues and its relationship with proteinuria. Xian L, et al. BMC Nephrol, 2019 Aug 23. PMID 31443644, Free PMC Article
    4. Structure and function insights garnered from in silico modeling of the thrombospondin type-1 domain-containing 7A antigen. Stoddard SV, et al. Proteins, 2019 Feb. PMID 30520531, Free PMC Article
    5. Human anti-thrombospondin type 1 domain-containing 7A antibodies induce membranous nephropathy through activation of lectin complement pathway. Wang Z, et al. Biosci Rep, 2018 Jun 29. PMID 29769410, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
      Title: [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
    2. Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury.
      Title: Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury.
    3. Clinical characteristics of thrombospondin type-1 domain-containing 7A-associated membranous nephropathy.
      Title: Clinical characteristics of thrombospondin type-1 domain-containing 7A-associated membranous nephropathy.
    4. Case Report: THSD7A-Positive Membranous Nephropathy Caused by Tislelizumab in a Lung Cancer Patient.
      Title: Case Report: THSD7A-Positive Membranous Nephropathy Caused by Tislelizumab in a Lung Cancer Patient.
    5. Autoantigens PLA2R and THSD7A in membranous nephropathy share a common epitope motif in the N-terminal domain.
      Title: Autoantigens PLA2R and THSD7A in membranous nephropathy share a common epitope motif in the N-terminal domain.
    6. Renal expression of PLA2R, THSD7A, and IgG4 in patients with membranous nephropathy and correlation with clinical findings.
      Title: Renal expression of PLA2R, THSD7A, and IgG4 in patients with membranous nephropathy and correlation with clinical findings.
    7. Expression of THSD7A in neoplasm tissues and its relationship with proteinuria.
      Title: Expression of THSD7A in neoplasm tissues and its relationship with proteinuria.
    8. Results show a homology model of the extracellular portion of the thrombospondin type-1 domain containing 7A (THSD7A) antigen.
      Title: Structure and function insights garnered from in silico modeling of the thrombospondin type-1 domain-containing 7A antigen.
    9. Human anti-THSD7A protein antibodies induce membranous nephropathy through activation of lectin complement pathway.
      Title: Human anti-thrombospondin type 1 domain-containing 7A antibodies induce membranous nephropathy through activation of lectin complement pathway.
    10. SCML4 and THSD7A are identified as novel susceptibility genes for coronary artery disease.
      Title: Genome-Wide Association and Functional Studies Identify SCML4 and THSD7A as Novel Susceptibility Genes for Coronary Artery Disease.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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 association study of Tourette's syndrome.
    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

    Clone Names

    • KIAA0960

    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 actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    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_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_2023_10

    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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPZ6.4 GenPept UniProtKB/Swiss-Prot:Q9UPZ6

    Gene LinkOut

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