OPTC (opticin)

2014-11-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
OPT

Other Information

Locus ID:

NCBI: 26254
MIM: 605127
HGNC: 8158
Ensembl: ENSG00000188770

Variants:

dbSNP: 26254
ClinVar: 26254
TCGA: ENSG00000188770
COSMIC: OPTC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188770ENST00000367222Q9UBM4
ENSG00000188770ENST00000448911Q5T2G3

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
175637172007Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.34
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
226699772012Opticin exerts its anti-angiogenic activity by regulating extracellular matrix adhesiveness.13
173595252007Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.12
173595252007Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.12
120192152002Protein localization in the human eye and genetic screen of opticin.11
198445862009An evaluation of OPTC and EPYC as candidate genes for high myopia.3
198445862009An evaluation of OPTC and EPYC as candidate genes for high myopia.3
225341132012Opticin production is reduced by hypoxia and VEGF in human retinal pigment epithelium via MMP-2 activation.2

Citation

Dessen P

OPTC (opticin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71138/optc