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Aliases for THBS3 Gene

Aliases for THBS3 Gene

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

External Ids for THBS3 Gene

Previous GeneCards Identifiers for THBS3 Gene

  • GC01M153043
  • GC01M150906
  • GC01M151943
  • GC01M152382
  • GC01M151979
  • GC01M153432
  • 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 Gaucher's Disease. Among its related pathways are PI3K-Akt signaling pathway and RET signaling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for THBS3 Gene

Genomics for THBS3 Gene

GeneHancer (GH) Regulatory Elements for THBS3 Gene

Promoters and enhancers for THBS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 584.6 +0.5 493 4.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 THBS3 MTX1 FAM189B SCAMP3 TRIM46 KRTCAP2 LMNA DAP3 POU5F1P4 LOC105371450
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 111.9 -35.1 -35062 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 40.8 +204.7 204729 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 MSTO1 THBS3 MSTO2P
GH01I154965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 42.8 +237.1 237126 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 SHC1 CKS1B GON4L UBAP2L CLK2 KHDC4 THBS3 ENSG00000271267 KRTCAP2 FLAD1
GH01I154935 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31 +271.5 271529 3.8 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ENSG00000270361 PMVK GON4L CLK2 KHDC4 ENSG00000271267 UBAP2L THBS3 RUSC1-AS1 CRTC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THBS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THBS3 gene promoter:

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)

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 posLast=310310, isoforms=2407, isoforms=2644, and posLast=937937

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

Suggested Antigen Peptide Sequences for THBS3 Gene

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

GENATLAS Biochemistry:
thrombospondin III,glycoprotein expressed in lung,cell adhesion molecule
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.

Phenotypes From GWAS Catalog for THBS3 Gene

Gene Ontology (GO) - Molecular Function for THBS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS,IEA 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:

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 2
cytosol 2
plasma membrane 1
lysosome 1

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 TAS,IEA --
GO:0031012 extracellular matrix IEA --
GO:0048471 perinuclear region of cytoplasm IDA 11943589
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:0030198 extracellular matrix organization IEA --
GO:0043931 ossification involved in bone maturation 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

Unigene Clusters for THBS3 Gene

Thrombospondin 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for
THBS3

Expression for THBS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for THBS3 Gene



NURSA nuclear receptor signaling pathways regulating expression of THBS3 Gene:

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 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia cfa-mir-92b 34
  • 98 (a)
OneToOne
THBS3 33
  • 92.36 (n)
oppossum
(Monodelphis domestica)
Mammalia THBS3 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THBS3 33 34
  • 92.4 (n)
mouse
(Mus musculus)
Mammalia Thbs3 33 16 34
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia LOC681309 33
  • 89.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia THBS3 34
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THBS3 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thbs3 33
  • 74.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia thbs3-prov 33
zebrafish
(Danio rerio)
Actinopterygii thbs3a 33 34
  • 68.2 (n)
thbs3b 34
  • 68 (a)
OneToMany
thbs3 33
fruit fly
(Drosophila melanogaster)
Insecta Tsp 35 34
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5547 33
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)

Paralogs for THBS3 Gene

Paralogs for THBS3 Gene

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

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

Variants for THBS3 Gene

Sequence variations from dbSNP and Humsavar for THBS3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193920931 uncertain-significance, Malignant tumor of prostate 155,201,094(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_035808 A breast cancer sample p.Arg955Gly
rs1000441255 -- 155,209,566(-) C/T upstream_transcript_variant
rs1000779176 -- 155,195,516(-) C/A downstream_transcript_variant
rs1001048297 -- 155,208,357(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant

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

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

Disorders for THBS3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gaucher's disease
  • acid beta-glucosidase deficiency
- 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 22 58
  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 58
  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 22 58
  4. Relative abundance of thrombospondin 2 and thrombospondin 3 mRNAs in human tissues. (PMID: 10329465) Adolph KW (Biochemical and biophysical research communications 1999) 3 22 58
  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 22 58

Products for THBS3 Gene

  • Addgene plasmids for THBS3

Sources for THBS3 Gene