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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64094
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Gene name
Gene Name - the full gene name approved by the HGNC.
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SPARC related modular calcium binding 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SMOC2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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DTDP1, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1, dJ421D16.1 |
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Chromosome
Chromosome number
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6 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q27 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| DENTIN DYSPLASIA, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH |
dentin dysplasia, type i, with extreme microdontia and misshapen teeth |
rs875989843, rs786200927 |
N/A |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer (early onset) |
N/A |
N/A |
GWAS |
| Dentin Dysplasia |
atypical dentin dysplasia due to SMOC2 deficiency |
N/A |
N/A |
GenCC |
| Pelvic Organ Prolapse |
Pelvic organ prolapse |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |
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