Format

Send to:

Choose Destination

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

Gene ID: 64094, updated on 1-Jun-2020

Summary

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
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

Genomic context

See SMOC2 in Genome Data Viewer
Location:
6q27
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (168441153..168667992)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (168841831..169068674)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378140 Neighboring gene uncharacterized LOC105378141 Neighboring gene uncharacterized LOC105378142 Neighboring gene uncharacterized LOC105378143

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dentin dysplasia, type 1
MedGen: C0399379 OMIM: 125400 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding ISA
Inferred from Sequence Alignment
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
interstitial matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001166412.2NP_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
    Q9H3U7
    Related
    ENSP00000348630.2, ENST00000356284.6
    Conserved Domains (4) summary
    smart00280
    Location:3984
    KAZAL; Kazal type serine protease inhibitors
    cd00191
    Location:215281
    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:154212
    Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
    cl08302
    Location:352410
    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_022138.3NP_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:3984
    KAZAL; Kazal type serine protease inhibitors
    cd00191
    Location:226292
    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:154223
    Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
    cl08302
    Location:363421
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    168441153..168667992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    smart00280
    Location:3984
    KAZAL; Kazal type serine protease inhibitors
    cd00191
    Location:226292
    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:363424
    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:154223
    Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
  2. XM_011536066.1XP_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:3984
    KAZAL; Kazal type serine protease inhibitors
    cd00191
    Location:215281
    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:154212
    Thyroglob_assoc; Thyroglobulin_1 repeat associated disordered domain
    cl08302
    Location:352410
    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 ...
Support Center