Entity Details

Primary name SMOC1
Entity type gene
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Details

PrimaryID64093
RefseqGeneNG_028217
SymbolSMOC1
NameSPARC related modular calcium binding 1
Chromosome14
Location14q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-02
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSMOC1_HUMAN

GO terms

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GOName
GO:0001654 eye development
GO:0005509 calcium ion binding
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0008201 heparin binding
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
GO:0045667 regulation of osteoblast differentiation
GO:0050840 extracellular matrix binding
GO:0060173 limb development

Diseases

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Disease IDSourceNameDescription
206920 OMIMOphthalmoacromelic syndrome (OAS)A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. The disease is caused by variants affecting the gene represented in this entry.