MYOC (myocilin)

2007-04-01  

Identity

HGNC
LOCATION
1q24.3
LOCUSID
ALIAS
GLC1A,GPOA,JOAG,JOAG1,TIGR

Other Information

Locus ID:

NCBI: 4653
MIM: 601652
HGNC: 7610
Ensembl: ENSG00000034971

Variants:

dbSNP: 4653
ClinVar: 4653
TCGA: ENSG00000034971
COSMIC: MYOC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000034971ENST00000037502Q99972
ENSG00000034971ENST00000037502A0A0S2Z421
ENSG00000034971ENST00000638471A0A1W2PP09

Expression (GTEx)

0
50
100
150
200
250
300
350

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
146808062003Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.88
125047392002Myocilin glaucoma.69
184368252008Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma.65
173177872007Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.54
153426932004CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.51
159441582005Extracellular trafficking of myocilin in human trabecular meshwork cells.43
111338592001Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.41
191884382009Myocilin is a modulator of Wnt signaling.40

Citation

Dessen P

MYOC (myocilin)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46782/myoc