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    THBS2 thrombospondin 2 [ Homo sapiens (human) ]

    Gene ID: 7058, updated on 3-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 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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    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
    		not available

    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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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