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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-1 Domain-Containing Protein 4 3
  • Thrombospondin, Type I, Domain Containing 4 3
  • EC 61
  • EC 61
  • 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 O-glycosylation of TSR domain-containing proteins and HIV Life Cycle. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F071312 0.2 ENCODE 8.8 +217.2 217198 3.1 ATF3 MYNN HNF4G RAD21 NR2F2 YY1 THSD4 SENP8 PIR52996 LOC105370884
GH15F071316 0.2 ENCODE 8 +220.0 220047 1.3 ZNF335 THSD4 SENP8 PIR52996 LOC105370884
GH15F071328 1 Ensembl ENCODE 7.7 +236.3 236282 10.4 PKNOX1 KLF17 YBX1 RAD21 YY1 POLR3A SCRT2 RCOR1 FOS ZNF362 THAP10 THSD4 PIR52996 RPL17P39
GH15F071626 0.2 ENCODE 6.2 +530.6 530574 1.4 GATA3 SCRT2 TCF7 SP7 THSD4 THSD4-AS2 ENSG00000278408
GH15F071410 0.5 Ensembl ENCODE 4.9 +314.5 314479 2.7 CTCF SIN3A NR3C1 MNT ZNF623 ZNF664 ZFHX2 JUND POLR2A EGR2 CELF6 THSD4 GC15P071396 GC15P071507
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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

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 --
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase 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

Inhibitory RNA Products

Flow Cytometry Products

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:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IDA 23979707
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with THSD4: view

Pathways & Interactions for THSD4 Gene

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

Interacting Proteins for THSD4 Gene

Selected Interacting proteins: Q6ZMP0-THSD4_HUMAN for THSD4 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for THSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0048251 elastic fiber assembly IEA --
genes like me logo Genes that share ontologies with THSD4: view

No data available for SIGNOR curated interactions for THSD4 Gene

Transcripts for THSD4 Gene

Unigene Clusters for THSD4 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of THSD4 Gene:


SOURCE GeneReport for Unigene cluster for THSD4 Gene:

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

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia THSD4 34 35
  • 98.79 (n)
(Bos Taurus)
Mammalia THSD4 35
  • 93 (a)
(Canis familiaris)
Mammalia THSD4 34 35
  • 88.7 (n)
(Monodelphis domestica)
Mammalia THSD4 35
  • 86 (a)
(Mus musculus)
Mammalia Thsd4 34 16 35
  • 85.07 (n)
(Ornithorhynchus anatinus)
Mammalia THSD4 35
  • 67 (a)
(Gallus gallus)
Aves THSD4 34 35
  • 71.23 (n)
(Anolis carolinensis)
Reptilia THSD4 35
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia thsd4 34
  • 70.53 (n)
Str.19187 34
(Danio rerio)
Actinopterygii CABZ01090712.1 35
  • 58 (a)
adamtsl7 35 34
  • 57.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6232 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
Species where no ortholog for THSD4 was found in the sources mined by GeneCards:
  • 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
rs1000818 -- 71,191,380(+) GGCTG(C/T)TGGTC intron-variant
rs1000819 -- 71,191,632(+) ACTAG(C/T)GGTGG intron-variant
rs1002007 -- 71,289,711(-) CTCTA(C/T)GCGTT intron-variant
rs1002119 -- 71,696,810(-) TCTGC(C/T)TGCCT intron-variant
rs1003881 -- 71,191,418(+) TCTGG(C/T)TTGCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1236n106 CNV deletion 24896259
dgv1237n106 CNV deletion 24896259
dgv154n21 CNV loss 19592680
dgv16e209 CNV deletion 24192839
dgv2619n100 CNV gain 25217958
dgv2620n100 CNV loss 25217958
dgv4586n54 CNV loss 21841781
dgv4587n54 CNV loss 21841781
dgv4588n54 CNV loss 21841781
dgv4589n54 CNV loss 21841781
dgv458e199 CNV deletion 23128226
dgv4590n54 CNV loss 21841781
dgv4591n54 CNV loss 21841781
dgv4592n54 CNV loss 21841781
dgv4593n54 CNV gain 21841781
dgv4594n54 CNV gain+loss 21841781
dgv4595n54 CNV gain+loss 21841781
dgv4596n54 CNV gain 21841781
dgv4597n54 CNV loss 21841781
dgv4598n54 CNV loss 21841781
dgv4599n54 CNV loss 21841781
dgv4600n54 CNV gain 21841781
dgv4601n54 CNV loss 21841781
dgv4602n54 CNV gain+loss 21841781
dgv4603n54 CNV loss 21841781
dgv4604n54 CNV loss 21841781
dgv4605n54 CNV loss 21841781
dgv4606n54 CNV loss 21841781
dgv4607n54 CNV loss 21841781
esv1000075 CNV deletion 20482838
esv1002043 CNV insertion 20482838
esv1129747 CNV deletion 17803354
esv1139987 CNV insertion 17803354
esv1153445 CNV insertion 17803354
esv1295892 CNV deletion 17803354
esv1756938 CNV deletion 17803354
esv2098669 CNV deletion 18987734
esv21574 CNV gain 19812545
esv2244526 CNV deletion 18987734
esv2347402 CNV deletion 18987734
esv2419801 CNV deletion 18987734
esv2425447 CNV deletion 19546169
esv2442314 CNV deletion 19546169
esv2467997 CNV loss 19546169
esv2657858 CNV deletion 23128226
esv2662563 CNV deletion 23128226
esv2666446 CNV deletion 23128226
esv2669959 CNV deletion 23128226
esv2670725 CNV deletion 23128226
esv26768 CNV gain 19812545
esv2676936 CNV deletion 23128226
esv2677340 CNV deletion 23128226
esv27393 CNV loss 19812545
esv2743297 CNV deletion 23290073
esv2749846 CNV deletion 23290073
esv2749847 CNV deletion 23290073
esv2749848 CNV deletion 23290073
esv2749849 CNV deletion 23290073
esv2749850 CNV deletion 23290073
esv2749851 CNV deletion 23290073
esv2749853 CNV deletion 23290073
esv2749854 CNV deletion 23290073
esv2749855 CNV deletion 23290073
esv2749856 CNV deletion 23290073
esv2749857 CNV deletion 23290073
esv275141 CNV gain+loss 21479260
esv2761721 CNV loss 21179565
esv27935 CNV loss 19812545
esv3043 CNV loss 18987735
esv3222679 CNV deletion 24192839
esv3360792 CNV insertion 20981092
esv3362860 CNV insertion 20981092
esv3365623 CNV duplication 20981092
esv3388569 CNV insertion 20981092
esv3400448 CNV insertion 20981092
esv3552647 CNV deletion 23714750
esv3552648 CNV deletion 23714750
esv3552652 CNV deletion 23714750
esv3552653 CNV deletion 23714750
esv3552656 CNV deletion 23714750
esv3552657 CNV deletion 23714750
esv3552659 CNV deletion 23714750
esv3569664 CNV gain 25503493
esv3581758 CNV loss 25503493
esv3581759 CNV loss 25503493
esv3581761 CNV loss 25503493
esv3636851 CNV loss 21293372
esv3636852 CNV loss 21293372
esv3636853 CNV loss 21293372
esv3636854 CNV loss 21293372
esv3636855 CNV loss 21293372
esv3636856 CNV loss 21293372
esv3636857 CNV loss 21293372
esv3636858 CNV loss 21293372
esv3636859 CNV loss 21293372
esv3636860 CNV loss 21293372
esv3636861 CNV gain 21293372
esv3636862 CNV loss 21293372
esv3636863 CNV loss 21293372
esv3892711 CNV loss 25118596
esv4992 CNV loss 18987735
esv7279 CNV gain 19470904
esv7639 CNV loss 19470904
esv8355 CNV loss 19470904
esv8480 CNV loss 19470904
esv996751 CNV deletion 20482838
nsv1036938 CNV gain 25217958
nsv1043423 CNV loss 25217958
nsv1043590 CNV loss 25217958
nsv1069602 CNV deletion 25765185
nsv1069862 CNV deletion 25765185
nsv1069863 CNV deletion 25765185
nsv1110257 CNV duplication 24896259
nsv1111117 CNV tandem duplication 24896259
nsv1113723 CNV deletion 24896259
nsv1121511 CNV deletion 24896259
nsv1134466 CNV deletion 24896259
nsv1134467 CNV deletion 24896259
nsv1138385 CNV deletion 24896259
nsv1138386 CNV deletion 24896259
nsv1146620 CNV deletion 26484159
nsv1152695 CNV insertion 26484159
nsv1152858 CNV deletion 26484159
nsv1596 CNV deletion 18451855
nsv1597 CNV insertion 18451855
nsv1598 CNV insertion 18451855
nsv1600 CNV deletion 18451855
nsv435660 CNV deletion 17901297
nsv457194 CNV gain 19166990
nsv469595 CNV loss 16826518
nsv471251 CNV gain 18288195
nsv478845 CNV novel sequence insertion 20440878
nsv498850 CNV loss 21111241
nsv507788 OTHER sequence alteration 20534489
nsv510664 CNV deletion 20534489
nsv511552 CNV loss 21212237
nsv512403 CNV loss 21212237
nsv512404 CNV loss 21212237
nsv512405 CNV loss 21212237
nsv516900 CNV loss 19592680
nsv520258 CNV gain 19592680
nsv521742 CNV gain 19592680
nsv524913 CNV gain 19592680
nsv525831 CNV gain 19592680
nsv528698 CNV gain 19592680
nsv569817 CNV gain 21841781
nsv569819 CNV gain 21841781
nsv569820 CNV loss 21841781
nsv569840 CNV loss 21841781
nsv569843 CNV loss 21841781
nsv569853 CNV gain 21841781
nsv569866 CNV gain+loss 21841781
nsv569871 CNV loss 21841781
nsv569879 CNV loss 21841781
nsv569882 CNV loss 21841781
nsv569885 CNV gain 21841781
nsv569887 CNV gain+loss 21841781
nsv569895 CNV loss 21841781
nsv820714 CNV deletion 20802225
nsv827382 CNV loss 20364138
nsv833050 CNV gain 17160897
nsv94608 CNV insertion 16902084
nsv957951 CNV deletion 24416366
nsv957970 CNV deletion 24416366
nsv974595 CNV duplication 23825009
nsv974596 CNV duplication 23825009

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)

Relevant External Links for THSD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. Genome-wide association study identifies five loci associated with lung function. (PMID: 20010834) Repapi E. … Tobin M.D. (Nat. Genet. 2010) 3 46 64
  2. 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 46 64
  3. 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 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis. (PMID: 18488137) Mori S. … Ikegawa S. (J. Hum. Genet. 2008) 3 46 64

Products for THSD4 Gene

Sources for THSD4 Gene

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