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THBS2 thrombospondin 2 [ Homo sapiens (human) ]

Gene ID: 7058, updated on 27-Nov-2024

Summary

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Official Symbol
THBS2provided by HGNC
Official Full Name
thrombospondin 2provided by HGNC
Primary source
HGNC:HGNC:11786
See related
Ensembl:ENSG00000186340 MIM:188061; AllianceGenome:HGNC:11786
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TSP2; EDSCLL3
Summary
The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]
Expression
Broad expression in gall bladder (RPKM 49.1), endometrium (RPKM 31.3) and 18 other tissues See more
Orthologs
mouse all
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Genomic context

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See THBS2 in Genome Data Viewer
Location:
6q27
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (169215785..169253846, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (170567396..170606903, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (169615880..169653941, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169576328-169576828 Neighboring gene long intergenic non-protein coding RNA 2544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169585397-169585896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169587933-169588434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169588435-169588934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17794 Neighboring gene THBS2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:169624128-169625327 Neighboring gene uncharacterized LOC124901470 Neighboring gene MPRA-validated peak6323 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:169639978-169641177 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:169651477-169651990 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:169652503-169653015 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:169653016-169653527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169663055-169663557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169666201-169666700 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:169669953-169670713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169684859-169685360 Neighboring gene MPRA-validated peak6324 silencer Neighboring gene vesicle trafficking 1 pseudogene 1 Neighboring gene uncharacterized LOC105378148

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Serum thrombospondin-2 is a candidate diagnosis biomarker for early non-small-cell lung cancer. Jiang YM, et al. Biosci Rep, 2019 Jul 31. PMID 31296790, Free PMC Article
  2. Transcriptomics Identify Thrombospondin-2 as a Biomarker for NASH and Advanced Liver Fibrosis. Kozumi K, et al. Hepatology, 2021 Nov. PMID 34105780, Free PMC Article
  3. Circulating levels of the anti-angiogenic thrombospondin 2 are elevated in pre-eclampsia. Stenczer B, et al. Acta Obstet Gynecol Scand, 2011 Nov. PMID 21682699
  4. Distribution of serum Thrombospondin-2, a novel tumor marker, in general population and cancer patients in China. Zou S, et al. Clin Chim Acta, 2021 Jul. PMID 33794141
  5. Serum thrombospondin 2 is a novel predictor for the severity in the patients with NAFLD. Kimura T, et al. Liver Int, 2021 Mar. PMID 33386676

See all (143) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
    Title: Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
  2. THBS1 and THBS2 Enhance the In Vitro Proliferation, Adhesion, Migration and Invasion of Intrahepatic Cholangiocarcinoma Cells.
    Title: THBS1 and THBS2 Enhance the In Vitro Proliferation, Adhesion, Migration and Invasion of Intrahepatic Cholangiocarcinoma Cells.
  3. Thrombospondin 2 is a key determinant of fibrogenesis in non-alcoholic fatty liver disease.
    Title: Thrombospondin 2 is a key determinant of fibrogenesis in non-alcoholic fatty liver disease.
  4. Thrombospondin 2 is a novel biomarker of essential hypertension and associated with nocturnal Na[+] excretion and insulin resistance.
    Title: Thrombospondin 2 is a novel biomarker of essential hypertension and associated with nocturnal Na(+) excretion and insulin resistance.
  5. Serum THBS2 is a potential biomarker for the diagnosis of non-small cell lung cancer.
    Title: Serum THBS2 is a potential biomarker for the diagnosis of non-small cell lung cancer.
  6. MiR-214-3p suppresses cervical cancer cell metastasis by downregulating THBS2.
    Title: MiR-214-3p suppresses cervical cancer cell metastasis by downregulating THBS2.
  7. Hsa_circ_0015382 is involved in the pathogenesis of preeclampsia by mediating THBS2 expression.
    Title: Hsa_circ_0015382 is involved in the pathogenesis of preeclampsia by mediating THBS2 expression.
  8. Circ_0079530 stimulates THBS2 to promote the malignant progression of non-small cell lung cancer by sponging miR-584-5p.
    Title: Circ_0079530 stimulates THBS2 to promote the malignant progression of non-small cell lung cancer by sponging miR-584-5p.
  9. CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation.
    Title: CEBPB regulates the migration, invasion and EMT of breast cancer cells by inhibiting THBS2 expression and O-fucosylation.
  10. COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.
    Title: COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.
Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intervertebral disc disorder
MedGen: C0158252 OMIM: 603932 GeneReviews: Not available
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EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basement membrane IEA
Inferred from Electronic Annotation
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in platelet alpha granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
thrombospondin-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_022911.2 RefSeqGene

    Range
    5000..43061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001381939.1 → NP_001368868.1  thrombospondin-2 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    BX322234
    Consensus CDS
    CCDS94038.1
    UniProtKB/TrEMBL
    A0A3B3ITK0, A0A7I2V585
    Related
    ENSP00000504416.1, ENST00000676628.1
    Conserved Domains (11) summary
    smart00209
    Location:440 → 492
    TSP1; Thrombospondin type 1 repeats
    smart00210
    Location:20 → 215
    TSPN; Thrombospondin N-terminal -like domains
    sd00001
    Location:789 → 826
    TSP3; TSP3 repeat_long [structural motif]
    sd00002
    Location:731 → 765
    TSP3; TSP3 repeat_long [structural motif]
    sd00003
    Location:635 → 670
    TSP3_1C; TSP3 repeat_1C [structural motif]
    pfam00093
    Location:320 → 374
    VWC; von Willebrand factor type C domain
    pfam02412
    Location:789 → 826
    TSP_3; Thrombospondin type 3 repeat
    pfam00090
    Location:385 → 430
    TSP_1; Thrombospondin type 1 domain
    pfam05735
    Location:916 → 1113
    TSP_C; Thrombospondin C-terminal region
    pfam12947
    Location:594 → 633
    EGF_3; EGF domain
    NF033845
    Location:707 → 935
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB

  2. NM_001381940.1 → NP_001368869.1  thrombospondin-2 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    BX322234
    Related
    ENST00000677398.1
    Conserved Domains (5) summary
    smart00209
    Location:497 → 549
    TSP1; Thrombospondin type 1 repeats
    smart00210
    Location:20 → 215
    TSPN; Thrombospondin N-terminal -like domains
    pfam00093
    Location:320 → 374
    VWC; von Willebrand factor type C domain
    pfam00090
    Location:385 → 430
    TSP_1; Thrombospondin type 1 domain
    pfam12947
    Location:652 → 691
    EGF_3; EGF domain

  3. NM_001381941.1 → NP_001368870.1  thrombospondin-2 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    BX322234
    Conserved Domains (1) summary
    smart00210
    Location:20 → 215
    TSPN; Thrombospondin N-terminal -like domains

  4. NM_001381942.1 → NP_001368871.1  thrombospondin-2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    BX322234
    UniProtKB/TrEMBL
    A0A3B3ITK0
    Conserved Domains (11) summary
    smart00209
    Location:420 → 472
    TSP1; Thrombospondin type 1 repeats
    sd00001
    Location:770 → 807
    TSP3; TSP3 repeat_long [structural motif]
    sd00002
    Location:712 → 746
    TSP3; TSP3 repeat_long [structural motif]
    sd00003
    Location:616 → 651
    TSP3_1C; TSP3 repeat_1C [structural motif]
    pfam00093
    Location:243 → 297
    VWC; von Willebrand factor type C domain
    pfam02412
    Location:770 → 807
    TSP_3; Thrombospondin type 3 repeat
    pfam00090
    Location:308 → 353
    TSP_1; Thrombospondin type 1 domain
    pfam05735
    Location:897 → 1094
    TSP_C; Thrombospondin C-terminal region
    pfam12947
    Location:575 → 614
    EGF_3; EGF domain
    NF033845
    Location:688 → 916
    MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    cl22861
    Location:1 → 138
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

  5. NM_003247.5 → NP_003238.2  thrombospondin-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003238.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BX322234
    Consensus CDS
    CCDS34574.1
    UniProtKB/Swiss-Prot
    A6H8N1, A7E232, P35442, Q5RI52
    UniProtKB/TrEMBL
    A0A3B3ITK0
    Related
    ENSP00000482784.1, ENST00000617924.6
    Conserved Domains (10) summary
    smart00209
    Location:497 → 549
    TSP1; Thrombospondin type 1 repeats
    smart00210
    Location:20 → 215
    TSPN; Thrombospondin N-terminal -like domains
    sd00001
    Location:847 → 884
    TSP3; TSP3 repeat_long [structural motif]
    sd00002
    Location:789 → 823
    TSP3; TSP3 repeat_long [structural motif]
    sd00003
    Location:693 → 728
    TSP3_1C; TSP3 repeat_1C [structural motif]
    pfam00090
    Location:385 → 430
    TSP_1; Thrombospondin type 1 domain
    pfam00093
    Location:320 → 374
    VWC; von Willebrand factor type C domain
    pfam02412
    Location:848 → 884
    TSP_3; Thrombospondin type 3 repeat
    pfam05735
    Location:974 → 1171
    TSP_C; Thrombospondin C-terminal region
    pfam12947
    Location:652 → 691
    EGF_3; EGF domain

RNA

  1. NR_167744.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX322234
    Related
    ENST00000677429.1

  2. NR_167745.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX322234

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    169215785..169253846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    170567396..170606903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356286.1 → XP_054212261.1  thrombospondin-2 isoform X1

    UniProtKB/Swiss-Prot
    A6H8N1, A7E232, P35442, Q5RI52
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35442.2 GenPept UniProtKB/Swiss-Prot:P35442

Gene LinkOut

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