Gene Gene information from NCBI Gene database.
Entrez ID 64094
Gene name SPARC related modular calcium binding 2
Gene symbol SMOC2
Synonyms (NCBI Gene)
DTDP1MST117MSTP117MSTP140SMAP2bA270C4A.1bA37D8.1dJ421D16.1
Chromosome 6
Chromosome location 6q27
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs770992223 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs786200927 G>T Pathogenic Splice donor variant
rs875989843 T>A,C Pathogenic Stop gained, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
802
miRTarBase ID miRNA Experiments Reference
MIRT017988 hsa-miR-335-5p Microarray 18185580
MIRT612435 hsa-miR-3156-5p HITS-CLIP 23824327
MIRT612449 hsa-miR-4418 HITS-CLIP 23824327
MIRT612448 hsa-miR-509-3-5p HITS-CLIP 23824327
MIRT612447 hsa-miR-509-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding ISA 12741954
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607223 20323 ENSG00000112562
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3U7
Protein name SPARC-related modular calcium-binding protein 2 (Secreted modular calcium-binding protein 2) (SMOC-2) (Smooth muscle-associated protein 2) (SMAP-2)
Protein function Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07648 Kazal_2 39 84 Kazal-type serine protease inhibitor domain Domain
PF00086 Thyroglobulin_1 90 153 Thyroglobulin type-1 repeat Domain
PF16597 Thyroglob_assoc 154 214 Disordered
PF00086 Thyroglobulin_1 216 281 Thyroglobulin type-1 repeat Domain
PF10591 SPARC_Ca_bdg 302 412 Secreted protein acidic and rich in cysteine Ca binding region Domain
Sequence
Sequence length 446
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dentin dysplasia type I Pathogenic rs875989843, rs786200927 RCV006272136
RCV006272128
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs76160670 RCV005926417
Familial cancer of breast Benign; Conflicting classifications of pathogenicity rs9364464, rs140807244 RCV005915763
RCV005902548
Gastric cancer Benign rs76160670 RCV005926418
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity rs140807244 RCV005902549
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32884102
Alzheimer Disease Associate 37348871, 39380021
Arthritis Rheumatoid Associate 26359667
Asthma Associate 34876240
Atrophy Associate 34051265
Autoimmune Diseases Associate 19890347
Carcinoma Hepatocellular Associate 28018113
Carcinoma Renal Cell Associate 35869056
Colorectal Neoplasms Associate 29467240, 32884102, 33898197
Endometriosis Associate 28678915