Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64094
Gene name Gene Name - the full gene name approved by the HGNC.
SPARC related modular calcium binding 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMOC2
Synonyms (NCBI Gene) Gene synonyms aliases
DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DTDP1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding ISA 12741954
GO:0005515 Function Protein binding IPI 32296183
GO:0005604 Component Basement membrane IBA 21873635
GO:0005615 Component Extracellular space IBA 21873635
GO:0005615 Component Extracellular space IDA 16774925
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607223 20323 ENSG00000112562
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dentin dysplasia, with extreme microdontia and misshapen teeth DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH rs786200927, rs875989843
Unknown
Disease term Disease name Evidence References Source
Dentin Dysplasia atypical dentin dysplasia due to SMOC2 deficiency GenCC
Vitiligo Vitiligo GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Pelvic Organ Prolapse Pelvic Organ Prolapse GWAS
Associations from Text Mining
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