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 |
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 |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
|