Overview

Variant ID 10134
Entrez Gene ID 64094
Gene SMOC2 (GeneCards)
Location hg19 6:169169935-169169935
hg38 6:168769840-168769840
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000006.11:g.169169935 G>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3343
CADD Raw score (version 1.3) -0.215407 (Deleterious)
FATHMM raw prediction score 0.08912 (Tolerated)
Deleterious probability by DeFine 0.0677 (Neutral)
Entrez Gene ID 64094 (NCBI Gene)
Official Gene Symbol SMOC2 (GeneCards)
Number of variants in SMOC2 in this database 16 (view all the variants)
Full name SPARC related modular calcium binding 2
Band 6q27
Other IDs Vega: OTTHUMG00000016050
OMIM: 607223
HGNC: HGNC:20323
Ensembl: ENSG00000112562
Other names DTDP1, SMAP2, MST117, MSTP117, MSTP140, bA37D8.1, bA270C4A.1, dJ421D16.1
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 and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;