The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript var... See more...

Aliases for THBS3 Gene

Aliases for THBS3 Gene

  • Thrombospondin 3 2 3 5
  • Thrombospondin-3 3 4
  • TSP3 3 4

External Ids for THBS3 Gene

Previous GeneCards Identifiers for THBS3 Gene

  • GC01M153043
  • GC01M150906
  • GC01M151943
  • GC01M152382
  • GC01M151979
  • GC01M153432
  • GC01M155165
  • GC01M126528

Summaries for THBS3 Gene

Entrez Gene Summary for THBS3 Gene

  • The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]

GeneCards Summary for THBS3 Gene

THBS3 (Thrombospondin 3) is a Protein Coding gene. Diseases associated with THBS3 include Pregnancy Adenoma and Pseudoachondroplasia. Among its related pathways are Focal Adhesion and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and heparin binding. An important paralog of this gene is THBS4.

UniProtKB/Swiss-Prot Summary for THBS3 Gene

  • Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen.

Gene Wiki entry for THBS3 Gene

Additional gene information for THBS3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THBS3 Gene

Genomics for THBS3 Gene

GeneHancer (GH) Regulatory Elements for THBS3 Gene

Promoters and enhancers for THBS3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THBS3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THBS3

Top Transcription factor binding sites by QIAGEN in the THBS3 gene promoter:
  • ATF-2
  • c-Jun
  • YY1

Genomic Locations for THBS3 Gene

Genomic Locations for THBS3 Gene
chr1:155,195,584-155,209,180
(GRCh38/hg38)
Size:
13,597 bases
Orientation:
Minus strand
chr1:155,165,379-155,178,842
(GRCh37/hg19)
Size:
13,464 bases
Orientation:
Minus strand

Genomic View for THBS3 Gene

Genes around THBS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THBS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THBS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THBS3 Gene

Proteins for THBS3 Gene

  • Protein details for THBS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49746-TSP3_HUMAN
    Recommended name:
    Thrombospondin-3
    Protein Accession:
    P49746
    Secondary Accessions:
    • B1AVR8
    • B4DQ20
    • Q8WV34

    Protein attributes for THBS3 Gene

    Size:
    956 amino acids
    Molecular mass:
    104201 Da
    Quaternary structure:
    • Oligomer; disulfide-linked.

    Alternative splice isoforms for THBS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THBS3 Gene

Post-translational modifications for THBS3 Gene

  • Glycosylation at Asn310, Asn407, Asn644, and Asn937
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for THBS3 Gene

Domains & Families for THBS3 Gene

Gene Families for THBS3 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for THBS3 Gene

Suggested Antigen Peptide Sequences for THBS3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60323, highly similar to Thrombospondin-3 (B4DQ20_HUMAN)
  • Thrombospondin 3, (Q2HIZ0_HUMAN)
  • Thrombospondin-3 (TSP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49746

UniProtKB/Swiss-Prot:

TSP3_HUMAN :
  • Belongs to the thrombospondin family.
Family:
  • Belongs to the thrombospondin family.
genes like me logo Genes that share domains with THBS3: view

Function for THBS3 Gene

Molecular function for THBS3 Gene

UniProtKB/Swiss-Prot Function:
Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen.
GENATLAS Biochemistry:
thrombospondin III,glycoprotein expressed in lung,cell adhesion molecule

Phenotypes From GWAS Catalog for THBS3 Gene

Gene Ontology (GO) - Molecular Function for THBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 28327460
GO:0005509 calcium ion binding IEA,NAS 7558000
GO:0008201 heparin binding IDA,IEA 8288588
genes like me logo Genes that share ontologies with THBS3: view
genes like me logo Genes that share phenotypes with THBS3: view

Animal Models for THBS3 Gene

MGI Knock Outs for THBS3:

Animal Model Products

  • Taconic Biosciences Mouse Models for THBS3

CRISPR Products

miRNA for THBS3 Gene

miRTarBase miRNAs that target THBS3

Clone Products

  • Addgene plasmids for THBS3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for THBS3 Gene

Localization for THBS3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THBS3 gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0048471 perinuclear region of cytoplasm IDA 11943589
GO:0062023 collagen-containing extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with THBS3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for THBS3 Gene

Pathways & Interactions for THBS3 Gene

genes like me logo Genes that share pathways with THBS3: view

Pathways by source for THBS3 Gene

2 BioSystems pathways for THBS3 Gene
2 Reactome pathways for THBS3 Gene

Gene Ontology (GO) - Biological Process for THBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003417 growth plate cartilage development IEA --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion NAS 7558000
GO:0043931 ossification involved in bone maturation IEA --
GO:0060346 bone trabecula formation IEA --
genes like me logo Genes that share ontologies with THBS3: view

No data available for SIGNOR curated interactions for THBS3 Gene

Drugs & Compounds for THBS3 Gene

(1) Drugs for THBS3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with THBS3: view

Transcripts for THBS3 Gene

mRNA/cDNA for THBS3 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for THBS3

Alternative Splicing Database (ASD) splice patterns (SP) for THBS3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^
SP1: - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - -
SP5:
SP6: -
SP7: - - - - - - -
SP8: - - - - -
SP9: - -
SP10: - - -
SP11:
SP12:
SP13: - -
SP14: -
SP15:
SP16:
SP17:
SP18:

ExUns: 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ·
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17: -
SP18:

ExUns: 24c ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for THBS3 Gene

GeneLoc Exon Structure for
THBS3

Expression for THBS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THBS3 Gene

Protein differential expression in normal tissues from HIPED for THBS3 Gene

This gene is overexpressed in Synovial fluid (14.1), Uterus (11.8), Testis (7.7), and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for THBS3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THBS3

SOURCE GeneReport for Unigene cluster for THBS3 Gene:

Hs.169875

Evidence on tissue expression from TISSUES for THBS3 Gene

  • Lung(4.5)
  • Liver(4.2)
  • Eye(4.1)
  • Pancreas(2.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with THBS3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THBS3 Gene

Orthologs for THBS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for THBS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THBS3 31 30
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia cfa-mir-92b 31
  • 98 (a)
OneToOne
THBS3 30
  • 92.36 (n)
oppossum
(Monodelphis domestica)
Mammalia THBS3 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THBS3 31 30
  • 92.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Thbs3 17 31 30
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia LOC681309 30
  • 89.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THBS3 31
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THBS3 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thbs3 30
  • 74.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia thbs3-prov 30
zebrafish
(Danio rerio)
Actinopterygii thbs3a 31 30
  • 68.2 (n)
OneToMany
thbs3b 31
  • 68 (a)
OneToMany
thbs3 30
fruit fly
(Drosophila melanogaster)
Insecta Tsp 31 32
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Cin.5547 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5547 30
Species where no ortholog for THBS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for THBS3 Gene

ENSEMBL:
Gene Tree for THBS3 (if available)
TreeFam:
Gene Tree for THBS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THBS3: view image

Paralogs for THBS3 Gene

Paralogs for THBS3 Gene

(5) SIMAP similar genes for THBS3 Gene using alignment to 6 proteins:

  • TSP3_HUMAN
  • B4DQH6_HUMAN
  • F5H4Z8_HUMAN
  • L8E9H3_HUMAN
  • Q2HIZ0_HUMAN
  • Q2HIZ1_HUMAN
genes like me logo Genes that share paralogs with THBS3: view

Variants for THBS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THBS3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
690379 Uncertain Significance: not provided 155,197,113(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
690398 Uncertain Significance: not provided 155,206,235(-) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs193920931 Uncertain Significance: Malignant tumor of prostate 155,201,094(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
VAR_035808 A breast cancer sample p.Arg955Gly
rs35154152 - p.Ser279Gly

Additional dbSNP identifiers (rs#s) for THBS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for THBS3 Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv2764209 CNV gain+loss 21179565
nsv1010146 CNV gain 25217958
nsv2988 CNV insertion 18451855
nsv464084 CNV loss 19166990
nsv470741 CNV loss 18288195
nsv527682 CNV gain 19592680
nsv547961 CNV loss 21841781

Variation tolerance for THBS3 Gene

Residual Variation Intolerance Score: 2.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THBS3 Gene

Human Gene Mutation Database (HGMD)
THBS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THBS3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THBS3 Gene

Disorders for THBS3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for THBS3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pregnancy adenoma
  • lactating adenoma
pseudoachondroplasia
  • psach
gaucher disease, type i
  • gd i
breast adenoma
  • ademoma - breast
- elite association - COSMIC cancer census association via MalaCards
Search THBS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THBS3

genes like me logo Genes that share disorders with THBS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THBS3 Gene

Publications for THBS3 Gene

  1. Structure and organization of the human thrombospondin 3 gene (THBS3). (PMID: 7558000) Adolph KW … Bornstein P (Genomics 1995) 3 4 23 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Corneal stromal cells (keratocytes) express thrombospondins 2 and 3 in wound repair phenotype. (PMID: 11943589) Armstrong DJ … Kaye S (The international journal of biochemistry & cell biology 2002) 3 23 54
  4. Relative abundance of thrombospondin 2 and thrombospondin 3 mRNAs in human tissues. (PMID: 10329465) Adolph KW (Biochemical and biophysical research communications 1999) 3 23 54
  5. The human thrombospondin 3 gene: analysis of transcription initiation and an alternatively spliced transcript. (PMID: 10527891) Adolph KW … Bornstein P (Molecular cell biology research communications : MCBRC 1999) 3 23 54

Products for THBS3 Gene