SMOC1 (SPARC related modular calcium binding 1)

2011-09-01  

Identity

HGNC
LOCATION
14q24.2
LOCUSID
ALIAS
OAS
FUSION GENES

Other Information

Locus ID:

NCBI: 64093
MIM: 608488
HGNC: 20318
Ensembl: ENSG00000198732

Variants:

dbSNP: 64093
ClinVar: 64093
TCGA: ENSG00000198732
COSMIC: SMOC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198732ENST00000361956Q9H4F8
ENSG00000198732ENST00000381280Q9H4F8
ENSG00000198732ENST00000381280A0A024R6E0

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121306372002Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes.33
203591652010Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation.31
217506802011Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.29
211946782011SMOC1 is essential for ocular and limb development in humans and mice.28
211946802011Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.18
213493322011SMOC1 is a tenascin-C interacting protein over-expressed in brain tumors.14
173863462007A whole genome scan for pulse pressure/stroke volume ratio in African Americans: the HyperGEN study.13
232747842013IL-17A but not IL-22 suppresses the replication of hepatitis B virus mediated by over-expression of MxA and OAS mRNA in the HepG2.2.15 cell line.11
232634452013Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio.9
280855232017A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.1

Citation

Dessen P

SMOC1 (SPARC related modular calcium binding 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-09-01

Online version: http://atlasgeneticsoncology.org/gene/52374/smoc1