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

Gene ID: 221981, updated on 2-Nov-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Thrombospondin type I domain containing 7A (THSD7A) mediates endothelial cell migration and tube formation. Wang CH, et al. J Cell Physiol, 2010 Mar. PMID 20020485
  3. THSD7A expression in human cancer. Stahl PR, et al. Genes Chromosomes Cancer, 2017 Apr. PMID 28035718
  4. 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
  5. Soluble THSD7A is an N-glycoprotein that promotes endothelial cell migration and tube formation in angiogenesis. Kuo MW, et al. PLoS One, 2011. PMID 22194972, Free PMC Article

See all (45) 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)

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_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

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

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