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    SMOC2 SPARC related modular calcium binding 2 [ Homo sapiens (human) ]

    Gene ID: 64094, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SMOC2provided by HGNC
    Official Full Name
    SPARC related modular calcium binding 2provided by HGNC
    Primary source
    HGNC:HGNC:20323
    See related
    Ensembl:ENSG00000112562 MIM:607223; AllianceGenome:HGNC:20323
    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
    DTDP1; SMAP2; MST117; MSTP117; MSTP140; bA37D8.1; bA270C4A.1; dJ421D16.1
    Summary
    This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Broad expression in endometrium (RPKM 68.7), gall bladder (RPKM 54.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMOC2 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (168441184..168667992)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (169784308..170014051)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (168841864..169068672)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378140 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:168811985-168813184 Neighboring gene uncharacterized LOC105378141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168855369-168855870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168857582-168858555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:168870327-168871526 Neighboring gene uncharacterized LOC124901466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:168897617-168898335 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:168929287-168929424 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:168941003-168941930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169007268-169007804 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91285 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91305 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:169059822-169060322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169067581-169068082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169068083-169068582 Neighboring gene uncharacterized LOC124901467 Neighboring gene uncharacterized LOC124901468

    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. Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model. Nishimoto S, et al. Biochim Biophys Acta, 2002 Jun 7. PMID 12031507
    2. SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin. Feng D, et al. Cell Death Dis, 2022 Jul 22. PMID 35869056, Free PMC Article
    3. Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function. Wilk JB, et al. Am J Respir Crit Care Med, 2007 Mar 15. PMID 17204727, Free PMC Article
    4. SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. Alkhateeb A, et al. Eur J Dermatol, 2010 Nov-Dec. PMID 20965805
    5. The Intestinal Stem Cell Marker SMOC2 Is an Independent Prognostic Marker Associated With Better Survival in Gastric Cancer. Hyun CL, et al. Anticancer Res, 2021 Jul. PMID 34230168

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FTO Positively Regulates Odontoblastic Differentiation via SMOC2 in Human Stem Cells from the Apical Papilla under Inflammatory Microenvironment.
      Title: FTO Positively Regulates Odontoblastic Differentiation via SMOC2 in Human Stem Cells from the Apical Papilla under Inflammatory Microenvironment.
    2. MicroRNA-19a-3p Acts as an Oncogene in Gastric Cancer and Exerts the Effect by Targeting SMOC2.
      Title: MicroRNA-19a-3p Acts as an Oncogene in Gastric Cancer and Exerts the Effect by Targeting SMOC2.
    3. SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin.
      Title: SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin.
    4. Prognostic and clinicopathological significance of TMEFF2, SMOC-2, and SOX17 expression in endometrial carcinoma.
      Title: Prognostic and clinicopathological significance of TMEFF2, SMOC-2, and SOX17 expression in endometrial carcinoma.
    5. The Intestinal Stem Cell Marker SMOC2 Is an Independent Prognostic Marker Associated With Better Survival in Gastric Cancer.
      Title: The Intestinal Stem Cell Marker SMOC2 Is an Independent Prognostic Marker Associated With Better Survival in Gastric Cancer.
    6. SMOC2, an intestinal stem cell marker, is an independent prognostic marker associated with better survival in colorectal cancers.
      Title: SMOC2, an intestinal stem cell marker, is an independent prognostic marker associated with better survival in colorectal cancers.
    7. Downregulation of SMOC2 expression in papillary thyroid carcinoma and its prognostic significance.
      Title: Downregulation of SMOC2 expression in papillary thyroid carcinoma and its prognostic significance.
    8. SMOC2 expression was markedly up-regulated in human liver samples with non-alcoholic fatty liver disease.
      Title: Secreted modular calcium-binding protein 2 promotes high fat diet (HFD)-induced hepatic steatosis through enhancing lipid deposition, fibrosis and inflammation via targeting TGF-β1.
    9. we conclude that SMOC-2 might be a novel endometrial cancer stem cell signature gene and therapeutic target for endometrial cancer.
      Title: Targeting cancer stem cell signature gene SMOC-2 Overcomes chemoresistance and inhibits cell proliferation of endometrial carcinoma.
    10. SMOC2 can act as an inhibitor of mineralization; there is a possible role for SMOC2 to prevent calcification disorders.
      Title: SMOC2 inhibits calcification of osteoprogenitor and endothelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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
    Dentin dysplasia type I
    MedGen: C0399379 OMIM: 125400 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
    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 ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    enables extracellular matrix binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell chemotaxis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of fibroblast growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of vascular endothelial growth factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of vascular wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in basement membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SPARC-related modular calcium-binding protein 2
    Names
    SMAP-2
    SMOC-2
    secreted modular calcium-binding protein 2
    smooth muscle associated protein 2
    thyroglobulin type-1 repeat containing protein

    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_032781.1 RefSeqGene

      Range
      5034..231842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166412.2 → NP_001159884.1  SPARC-related modular calcium-binding protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AI032288, BC028420
      Consensus CDS
      CCDS55076.1
      UniProtKB/Swiss-Prot
      B3KPS7, Q4G169, Q5TAT7, Q5TAT8, Q86VV9, Q96SF3, Q9H1L3, Q9H1L4, Q9H3U0, Q9H3U7, Q9H4F7, Q9HCV2
      Related
      ENSP00000348630.3, ENST00000356284.7
      Conserved Domains (4) summary
      smart00280
      Location:39 → 84
      KAZAL; Kazal type serine protease inhibitors
      cd00191
      Location:215 → 281
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam16597
      Location:154 → 212
      Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
      cl08302
      Location:352 → 410
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_022138.3 → NP_071421.1  SPARC-related modular calcium-binding protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_071421.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB014737, AI032288, AL136099, BC028420
      Consensus CDS
      CCDS5307.1
      UniProtKB/Swiss-Prot
      Q9H3U7
      Related
      ENSP00000346537.5, ENST00000354536.9
      Conserved Domains (4) summary
      smart00280
      Location:39 → 84
      KAZAL; Kazal type serine protease inhibitors
      cd00191
      Location:226 → 292
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam16597
      Location:154 → 223
      Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
      cl08302
      Location:363 → 421
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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
      168441184..168667992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536066.2 → XP_011534368.1  SPARC-related modular calcium-binding protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011534368.1

      Conserved Domains (4) summary
      smart00280
      Location:39 → 84
      KAZAL; Kazal type serine protease inhibitors
      cd00191
      Location:215 → 281
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      pfam16597
      Location:154 → 212
      Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
      cl08302
      Location:352 → 410
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. XM_011536065.2 → XP_011534367.1  SPARC-related modular calcium-binding protein 2 isoform X1

      Conserved Domains (4) summary
      smart00280
      Location:39 → 84
      KAZAL; Kazal type serine protease inhibitors
      cd00191
      Location:226 → 292
      TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases
      cd00252
      Location:363 → 424
      SPARC_EC; SPARC_EC; extracellular Ca2+ binding domain (containing 2 EF-hand motifs) of SPARC and related proteins (QR1, SC1/hevin, testican and tsc-36/FRP). SPARC (BM-40) is a multifunctional glycoprotein, a matricellular protein, that functions to regulate ...
      pfam16597
      Location:154 → 223
      Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      169784308..170014051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356216.1 → XP_054212191.1  SPARC-related modular calcium-binding protein 2 isoform X2

    2. XM_054356215.1 → XP_054212190.1  SPARC-related modular calcium-binding protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3U7.2 GenPept UniProtKB/Swiss-Prot:Q9H3U7

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