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Aliases for THSD7A Gene

Aliases for THSD7A Gene

  • Thrombospondin Type 1 Domain Containing 7A 2 3 5
  • KIAA0960 4

External Ids for THSD7A Gene

Previous GeneCards Identifiers for THSD7A Gene

  • GC07M011268

Summaries for THSD7A Gene

Entrez Gene Summary for THSD7A Gene

  • 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]

GeneCards Summary for THSD7A Gene

THSD7A (Thrombospondin Type 1 Domain Containing 7A) is a Protein Coding gene. Diseases associated with THSD7A include Saethre-Chotzen Syndrome and Osteoporosis. Among its related pathways are Infectious disease and Diseases associated with O-glycosylation of proteins. An important paralog of this gene is THSD7B.

UniProtKB/Swiss-Prot for THSD7A Gene

  • The soluble form promotes endothelial cell migration and filopodia formationduring angiogenesis via a FAK-dependent mechanism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THSD7A Gene

Genomics for THSD7A Gene

Regulatory Elements for THSD7A Gene

Enhancers for THSD7A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around THSD7A on UCSC Golden Path with GeneCards custom track

Promoters for THSD7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around THSD7A on UCSC Golden Path with GeneCards custom track

Genomic Location for THSD7A Gene

11,370,357 bp from pter
11,832,198 bp from pter
461,842 bases
Minus strand

Genomic View for THSD7A Gene

Genes around THSD7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THSD7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THSD7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THSD7A Gene

Proteins for THSD7A Gene

  • Protein details for THSD7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thrombospondin type-1 domain-containing protein 7A
    Protein Accession:

    Protein attributes for THSD7A Gene

    1657 amino acids
    Molecular mass:
    185363 Da
    Quaternary structure:
    No Data Available

neXtProt entry for THSD7A Gene

Proteomics data for THSD7A Gene at MOPED

Post-translational modifications for THSD7A Gene

Other Protein References for THSD7A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for THSD7A Gene

Domains & Families for THSD7A Gene

Protein Domains for THSD7A Gene


Suggested Antigen Peptide Sequences for THSD7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 15 TSP type-1 domains.
  • Contains 15 TSP type-1 domains.
genes like me logo Genes that share domains with THSD7A: view

No data available for Gene Families for THSD7A Gene

Function for THSD7A Gene

Molecular function for THSD7A Gene

UniProtKB/Swiss-Prot Function:
The soluble form promotes endothelial cell migration and filopodia formationduring angiogenesis via a FAK-dependent mechanism.

Phenotypes for THSD7A Gene

genes like me logo Genes that share phenotypes with THSD7A: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THSD7A Gene

Localization for THSD7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for THSD7A Gene

Cell membrane; Single-pass type I membrane protein. Secreted.

Subcellular locations from

Jensen Localization Image for THSD7A Gene COMPARTMENTS Subcellular localization image for THSD7A gene
Compartment Confidence
extracellular 5
plasma membrane 5
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for THSD7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with THSD7A: view

Pathways & Interactions for THSD7A Gene

genes like me logo Genes that share pathways with THSD7A: view

Interacting Proteins for THSD7A Gene

Gene Ontology (GO) - Biological Process for THSD7A Gene


No data available for SIGNOR curated interactions for THSD7A Gene

Drugs & Compounds for THSD7A Gene

No Compound Related Data Available

Transcripts for THSD7A Gene

mRNA/cDNA for THSD7A Gene

(8) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for THSD7A Gene

Thrombospondin, type I, domain containing 7A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for THSD7A Gene

No ASD Table

Relevant External Links for THSD7A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for THSD7A Gene

mRNA expression in normal human tissues for THSD7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THSD7A Gene

This gene is overexpressed in Fetal Brain (24.8), Gallbladder (9.2), Platelet (7.1), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for THSD7A Gene

SOURCE GeneReport for Unigene cluster for THSD7A Gene Hs.120855

genes like me logo Genes that share expression patterns with THSD7A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for THSD7A Gene

Orthologs for THSD7A Gene

This gene was present in the common ancestor of animals.

Orthologs for THSD7A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia THSD7A 35
  • 89.19 (n)
  • 91.92 (a)
  • 93 (a)
(Canis familiaris)
Mammalia THSD7A 35
  • 91.04 (n)
  • 94.08 (a)
  • 94 (a)
(Mus musculus)
Mammalia Thsd7a 35
  • 86.49 (n)
  • 91.13 (a)
Thsd7a 16
Thsd7a 36
  • 91 (a)
(Pan troglodytes)
Mammalia THSD7A 35
  • 99.5 (n)
  • 99.58 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Thsd7a 35
  • 86.83 (n)
  • 91.61 (a)
(Monodelphis domestica)
Mammalia THSD7A 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia THSD7A 36
  • 74 (a)
(Gallus gallus)
Aves THSD7A 35
  • 78.39 (n)
  • 83.63 (a)
  • 82 (a)
(Anolis carolinensis)
Reptilia THSD7A 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia thsd7a 35
  • 73.98 (n)
  • 78.54 (a)
(Danio rerio)
Actinopterygii thsd7a 35
  • 67.18 (n)
  • 71.04 (a)
thsd7a 36
  • 69 (a)
THSD7A (2 of 2) 36
  • 63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17739 36
  • 18 (a)
CG30046 36
  • 13 (a)
CG30203 36
  • 11 (a)
fat-spondin 36
  • 17 (a)
(Caenorhabditis elegans)
Secernentea spon-1 36
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
-- 36
  • 36 (a)
-- 36
  • 37 (a)
CSA.10186 36
  • 37 (a)
Species with no ortholog for THSD7A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for THSD7A Gene

Gene Tree for THSD7A (if available)
Gene Tree for THSD7A (if available)

Paralogs for THSD7A Gene

Paralogs for THSD7A Gene

(1) SIMAP similar genes for THSD7A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with THSD7A: view

Variants for THSD7A Gene

Sequence variations from dbSNP and Humsavar for THSD7A Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2074599 - 11,636,438(+) ACCTG(C/G)AACTC reference, missense
rs2285744 - 11,469,934(+) ATACA(C/G/T)TCCTT reference, missense
rs47 - 11,541,494(-) TGGGA(A/G)ACTGC reference, missense
rs1432 - 11,447,312(+) TGACA(A/G)TCATC reference, synonymous-codon
VAR_068678 -

Structural Variations from Database of Genomic Variants (DGV) for THSD7A Gene

Variant ID Type Subtype PubMed ID
dgv405n21 CNV Gain 19592680
nsv830902 CNV Gain 17160897
nsv830903 CNV Gain 17160897
esv2672996 CNV Deletion 23128226
nsv525858 CNV Loss 19592680
nsv887606 CNV Gain 21882294
nsv887607 CNV Loss 21882294
nsv523264 CNV Loss 19592680
nsv464366 CNV Loss 19166990
nsv527252 CNV Loss 19592680
nsv464367 CNV Loss 19166990
nsv887608 CNV Loss 21882294
dgv7187n71 CNV Loss 21882294
esv2408291 CNV Deletion 18987734
esv2733974 CNV Deletion 23290073
esv2674412 CNV Deletion 23128226
nsv510069 CNV Loss 20534489
esv28198 CNV Gain 19812545
esv2663598 CNV Deletion 23128226
esv2733975 CNV Deletion 23290073
dgv1123e201 CNV Deletion 23290073
nsv887611 CNV Loss 21882294
nsv510070 CNV Loss 20534489
dgv7188n71 CNV Loss 21882294
nsv524308 CNV Loss 19592680
nsv887614 CNV Gain 21882294
esv274953 CNV Gain+Loss 21479260
nsv525415 CNV Loss 19592680
nsv830905 CNV Loss 17160897
esv270634 CNV Insertion 20981092
nsv887615 CNV Loss 21882294

Variation tolerance for THSD7A Gene

Residual Variation Intolerance Score: 8.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.88; 91.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THSD7A Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THSD7A Gene

Disorders for THSD7A Gene

MalaCards: The human disease database

(2) MalaCards diseases for THSD7A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
saethre-chotzen syndrome
  • saethre-chotzen syndrome with eyelid anomalies
  • osteoporosis, postmenopausal, susceptibility
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for THSD7A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with THSD7A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THSD7A Gene

Publications for THSD7A Gene

  1. Soluble THSD7A is an N-glycoprotein that promotes endothelial cell migration and tube formation in angiogenesis. (PMID: 22194972) Kuo M.W. … Chuang Y.J. (PLoS ONE 2011) 3 4 67
  2. Thrombospondin type-1 domain-containing 7A in idiopathic membranous nephropathy. (PMID: 25394321) Tomas N.M. … Lambeau G. (N. Engl. J. Med. 2014) 3
  3. Genome-wide association study of Tourette's syndrome. (PMID: 22889924) Scharf J.M. … Pauls D.L. (Mol. Psychiatry 2013) 3
  4. Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases. (PMID: 23303384) Zhou H. … Ito H. (J. Hum. Genet. 2013) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for THSD7A Gene

Sources for THSD7A Gene