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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dentin dysplasia type I Pathogenic rs875989843, rs786200927 RCV006272136
RCV006272128
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL DENTIN DYSPLASIA DUE TO SMOC2 DEFICIENCY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37348871, 39380021 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26359667 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 34876240 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 34051265 Associate
★☆☆☆☆
Found in Text Mining only
Atypical dentin dysplasia due to SMOC2 deficiency Dentin Dysplasia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 19890347, 23463390
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 19890347 Associate
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly BEFREE 28552356
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28018113 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35869056 Associate
★☆☆☆☆
Found in Text Mining only