Property Summary

NCBI Gene PubMed Count 231
Grant Count 146
R01 Count 111
Funding $29,844,368.08
PubMed Score 459.21
PubTator Score 589.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma 1.738 0.002
medulloblastoma, large-cell 1.200 0.000
breast carcinoma -1.900 0.002
fibroadenoma -2.400 0.049
interstitial cystitis -2.300 0.001
lung adenocarcinoma -2.300 0.000
ductal carcinoma in situ -2.000 0.020
ovarian cancer 1.200 0.000
psoriasis -2.300 0.000

Synonym

Accession Q99972 B2RD84 O00620 Q7Z6Q9
Symbols GPOA
JOAG
TIGR
GLC1A
JOAG1

Gene

PANTHER Protein Class (1)

PDB

4WXQ   4WXS   4WXU  

Gene RIF (219)

PMID Text
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-closure glaucoma disease
26396484 Glaucomatous MYOC mutations activate the IL-1beta/NF-kappaB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.
26313302 FAs, expression of fibrogenic markers, and myocilin in HTM cells. These characteristics of Hic-5 in TM cells indicate its importance in regulation of AH outflow through the TM in both normal and glaucomatous eyes.
26237198 All POAG samples underwent full sequencing of the MYOC gene, and we found a sensitivity of 100%, specificity of 99.91%, positive predictive value of 95.65%, and negative predictive value of 100% between imputation and sequencing.
26095806 A novel heterozygous missense mutation c.761C<G(p.P254R) in the MYOC gene was identified as being co-segregated with the primary open-angle glaucoma phenotype in this family.
25777973 Secondary structure prediction of the Ser341Pro MYOC gene mutation suggested that the MYOC protein was misfolded.
25711070 According to molecular genetic studies, MYOC causative gene involved in the development of Primary open-angle glaucoma.
25582056 Data show that predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations.
25524706 Mutations in myoc ofactomedin domain are causative in the autosomal dominant inherited form of the prevalent ocular disorder glaucoma.
25450062 The data suggest that the DEX-induced increase in MYOC expression activates a calcineurin and NFATc1 pathway in a calcium independent mechanism.
More...

AA Sequence

MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSV      1 - 70
IHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELET     71 - 140
AYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTL    141 - 210
AFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPY    211 - 280
TQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELN    281 - 350
TETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN    351 - 420
IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWD    421 - 490
NLNMVTYDIKLSKM                                                            491 - 504
//

Text Mined References (239)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26497787 2015 Advances in glaucoma genetics.
26396484 2015 Glaucomatous MYOC mutations activate the IL-1/NF-?B inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.
26313302 2015 Hic-5 Regulates Actin Cytoskeletal Reorganization and Expression of Fibrogenic Markers and Myocilin in Trabecular Meshwork Cells.
26237198 2015 Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.
26095806 2015 Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
25777973 2015 Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
25711070 [Genetic studies of primary open-angle glaucoma].
25582056 2015 Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.
25524706 2015 Structural basis for misfolding in myocilin-associated glaucoma.
More...