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Aliases for THSD4 Gene

Aliases for THSD4 Gene

  • Thrombospondin Type 1 Domain Containing 4 2 3 5
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs-Like Protein 6 3 4
  • ADAMTS-Like Protein 6 3 4
  • ADAMTSL-6 3 4
  • Thrombospondin, Type I, Domain Containing 4 3
  • EC 63
  • EC 63
  • ADAMTSL6 3
  • FVSY9334 3
  • PRO34005 3

External Ids for THSD4 Gene

Previous GeneCards Identifiers for THSD4 Gene

  • GC15P069220
  • GC15P071389
  • GC15P048268

Summaries for THSD4 Gene

GeneCards Summary for THSD4 Gene

THSD4 (Thrombospondin Type 1 Domain Containing 4) is a Protein Coding gene. Among its related pathways are Infectious disease and Diseases associated with O-glycosylation of proteins. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL1.

UniProtKB/Swiss-Prot for THSD4 Gene

  • Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THSD4 Gene

Genomics for THSD4 Gene

Regulatory Elements for THSD4 Gene

Enhancers for THSD4 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 THSD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for THSD4 Gene

71,096,952 bp from pter
71,783,383 bp from pter
686,432 bases
Plus strand

Genomic View for THSD4 Gene

Genes around THSD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THSD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THSD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THSD4 Gene

Proteins for THSD4 Gene

  • Protein details for THSD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thrombospondin type-1 domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • B2RTY3
    • B4DR13
    • Q6MZI3
    • Q6UXZ8
    • Q9H8E4

    Protein attributes for THSD4 Gene

    1018 amino acids
    Molecular mass:
    112450 Da
    Quaternary structure:
    • Interacts with FBN1. May interact with TGFB1.
    • Sequence=BAB14673.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for THSD4 Gene


neXtProt entry for THSD4 Gene

Proteomics data for THSD4 Gene at MOPED

Selected DME Specific Peptides for THSD4 Gene

Post-translational modifications for THSD4 Gene

  • Glycosylation at Thr 121, Ser 140, Thr 151, Thr 185, Thr 287, Thr 553, Thr 588, and Ser 598
  • Modification sites at PhosphoSitePlus

Other Protein References for THSD4 Gene

Domains & Families for THSD4 Gene

Gene Families for THSD4 Gene

Protein Domains for THSD4 Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PLAC domain.
  • Contains 1 PLAC domain.
  • Contains 6 TSP type-1 domains.
genes like me logo Genes that share domains with THSD4: view

Function for THSD4 Gene

Molecular function for THSD4 Gene

UniProtKB/Swiss-Prot Function:
Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity).

Enzyme Numbers (IUBMB) for THSD4 Gene

Gene Ontology (GO) - Molecular Function for THSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
genes like me logo Genes that share ontologies with THSD4: view
genes like me logo Genes that share phenotypes with THSD4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for THSD4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THSD4 Gene

Localization for THSD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THSD4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for THSD4 Gene COMPARTMENTS Subcellular localization image for THSD4 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for THSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with THSD4: view

Drugs & Compounds for THSD4 Gene

No Compound Related Data Available

Transcripts for THSD4 Gene

Unigene Clusters for THSD4 Gene

Thrombospondin, type I, domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for THSD4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: -

Relevant External Links for THSD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for THSD4 Gene

mRNA expression in normal human tissues for THSD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for THSD4 Gene

This gene is overexpressed in Cervix - Endocervix (x6.2), Esophagus - Mucosa (x5.8), and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for THSD4 Gene

This gene is overexpressed in Cerebral cortex (18.6), Cervix (14.5), Bone (8.8), and Gallbladder (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for THSD4 Gene

SOURCE GeneReport for Unigene cluster for THSD4 Gene Hs.387057

genes like me logo Genes that share expression patterns with THSD4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for THSD4 Gene

Orthologs for THSD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for THSD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia THSD4 35
  • 88.7 (n)
  • 91.99 (a)
THSD4 36
  • 95 (a)
(Mus musculus)
Mammalia Thsd4 35
  • 85.07 (n)
  • 88.18 (a)
Thsd4 16
Thsd4 36
  • 88 (a)
(Pan troglodytes)
Mammalia THSD4 35
  • 98.79 (n)
  • 98.82 (a)
THSD4 36
  • 100 (a)
(Bos Taurus)
Mammalia THSD4 36
  • 93 (a)
(Monodelphis domestica)
Mammalia THSD4 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia THSD4 36
  • 67 (a)
(Gallus gallus)
Aves THSD4 35
  • 71.23 (n)
  • 75.22 (a)
THSD4 36
  • 73 (a)
(Anolis carolinensis)
Reptilia THSD4 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19187 35
thsd4 35
  • 70.53 (n)
  • 75.56 (a)
(Danio rerio)
Actinopterygii adamtsl7 35
  • 57.79 (n)
  • 53.44 (a)
adamtsl7 36
  • 48 (a)
CABZ01090712.1 36
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6232 36
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
Species with no ortholog for THSD4:
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for THSD4 Gene

Gene Tree for THSD4 (if available)
Gene Tree for THSD4 (if available)

Paralogs for THSD4 Gene

(2) SIMAP similar genes for THSD4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with THSD4: view

Variants for THSD4 Gene

Sequence variations from dbSNP and Humsavar for THSD4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1553 -- 71,641,570(-) TTGGC(C/T)ATACA intron-variant
rs2994 -- 71,279,710(-) TTCAT(C/T)TGGGA intron-variant
rs2995 -- 71,279,703(-) GGGAG(C/T)CCCTG intron-variant
rs3454 -- 71,639,761(-) GAGGG(A/G)TATGT intron-variant
rs3455 -- 71,639,778(-) TAAGA(A/G)CTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for THSD4 Gene

Variant ID Type Subtype PubMed ID
nsv1596 CNV Loss 18451855
nsv471251 CNV Gain 18288195
nsv904332 CNV Loss 21882294
nsv457194 CNV Gain 19166990
esv2662563 CNV Deletion 23128226
nsv469595 CNV Loss 16826518
esv2670725 CNV Deletion 23128226
esv2749846 CNV Deletion 23290073
esv27935 CNV Loss 19812545
nsv904333 CNV Loss 21882294
nsv1597 CNV Insertion 18451855
dgv154n21 CNV Loss 19592680
nsv516900 CNV Loss 19592680
nsv524913 CNV Gain 19592680
esv275141 CNV Gain+Loss 21479260
nsv1598 CNV Insertion 18451855
esv2676936 CNV Deletion 23128226
nsv1600 CNV Loss 18451855
nsv510664 CNV Loss 20534489
esv27393 CNV Loss 19812545
esv2442314 CNV Deletion 19546169
nsv512403 CNV Loss 21212237
esv2419801 CNV Deletion 18987734
esv1000075 CNV Deletion 20482838
esv2749847 CNV Deletion 23290073
nsv435660 CNV Deletion 17901297
esv7639 CNV Loss 19470904
nsv498850 CNV Loss 21111241
esv2467997 CNV Loss 19546169
nsv521742 CNV Gain 19592680
esv1153445 CNV Insertion 17803354
nsv904334 CNV Gain 21882294
nsv525831 CNV Gain 19592680
nsv833050 CNV Gain 17160897
esv2749848 CNV Deletion 23290073
esv2244526 CNV Deletion 18987734
esv2749849 CNV Deletion 23290073
esv1129747 CNV Deletion 17803354
nsv528698 CNV Gain 19592680
nsv511552 CNV Loss 21212237
esv2657858 CNV Deletion 23128226
esv2669959 CNV Deletion 23128226
esv2749850 CNV Deletion 23290073
nsv512404 CNV Loss 21212237
dgv458e199 CNV Deletion 23128226
esv21574 CNV Gain 19812545
nsv820714 CNV Deletion 20802225
nsv827382 CNV Loss 20364138
esv3043 CNV Deletion 18987735
esv2749851 CNV Deletion 23290073
esv996751 CNV Deletion 20482838
esv8480 CNV Loss 19470904
esv1756938 CNV Deletion 17803354
nsv520258 CNV Gain 19592680
esv2749853 CNV Deletion 23290073
esv2098669 CNV Deletion 18987734
esv2749854 CNV Deletion 23290073
esv4992 CNV Deletion 18987735
esv2666446 CNV Deletion 23128226
esv2743297 CNV Deletion 23290073
esv2425447 CNV Deletion 19546169
nsv512405 CNV Loss 21212237
esv26768 CNV Gain 19812545
esv2749855 CNV Deletion 23290073
esv2347402 CNV Deletion 18987734
esv2677340 CNV Deletion 23128226
esv8355 CNV Loss 19470904
esv2749856 CNV Deletion 23290073
esv1295892 CNV Deletion 17803354
nsv904335 CNV Loss 21882294
nsv507788 CNV Insertion 20534489
esv2749857 CNV Deletion 23290073
esv7279 CNV Gain 19470904
esv1002043 CNV Insertion 20482838
esv1139987 CNV Insertion 17803354
nsv94608 CNV Insertion 16902084

Variation tolerance for THSD4 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.28% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for THSD4 Gene

Disorders for THSD4 Gene

Relevant External Links for THSD4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for THSD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THSD4 Gene

Publications for THSD4 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. (PMID: 19734141) Apte S.S. (J. Biol. Chem. 2009) 2 3
  3. Genome-wide association study of lung function phenotypes in a founder population. (PMID: 23932459) Yao T.C. … Ober C. (J. Allergy Clin. Immunol. 2014) 3
  4. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. (PMID: 24159190) SeppAolAo I. … LehtimAoki T. (Eur. Heart J. 2014) 3
  5. Shift in GATA3 functions, and GATA3 mutations, control progression and clinical presentation in breast cancer. (PMID: 25410484) Cohen H. … Efroni S. (Breast Cancer Res. 2014) 3

Products for THSD4 Gene

Sources for THSD4 Gene