MYOC (myocilin) - Rat Genome Database

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Gene: MYOC (myocilin) Homo sapiens
Analyze
Symbol: MYOC
Name: myocilin
RGD ID: 737429
HGNC Page HGNC
Description: Enables fibronectin binding activity; frizzled binding activity; and myosin light chain binding activity. Involved in several processes, including regulation of cell-substrate adhesion; regulation of intracellular signal transduction; and regulation of stress fiber assembly. Located in several cellular components, including Golgi apparatus; collagen-containing extracellular matrix; and mitochondrial envelope. Implicated in juvenile glaucoma; low tension glaucoma; ocular hypertension; open-angle glaucoma; and primary open angle glaucoma. Biomarker of primary open angle glaucoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GLC1A; GPOA; JOAG; JOAG1; juvenile-onset open-angle glaucoma 1; mutated trabecular meshwork-induced glucocorticoid response protein; myocilin 55 kDa subunit; myocilin trabecular meshwork inducible glucocorticoid response; myocilin, trabecular meshwork inducible glucocorticoid response; TIGR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1171,635,417 - 171,652,688 (-)EnsemblGRCh38hg38GRCh38
GRCh381171,635,417 - 171,652,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371171,604,557 - 171,621,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,871,180 - 169,888,396 (-)NCBINCBI36hg18NCBI36
Build 341168,336,215 - 168,353,430NCBI
Celera1144,713,951 - 144,731,166 (-)NCBI
Cytogenetic Map1q24.3NCBI
HuRef1142,827,834 - 142,845,046 (-)NCBIHuRef
CHM1_11173,026,640 - 173,043,840 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
1. Alward WL, etal., Arch Ophthalmol. 2002 Sep;120(9):1189-97.
2. Alward WL, etal., N Engl J Med. 1998 Apr 9;338(15):1022-7.
3. Anholt RR and Carbone MA, Trends Mol Med. 2013 Oct;19(10):586-93. doi: 10.1016/j.molmed.2013.06.005. Epub 2013 Jul 19.
4. Avisar I, etal., Mol Vis. 2009 Sep 24;15:1945-50.
5. Banerjee D, etal., Mol Vis. 2012;18:1548-57. Epub 2012 Jun 13.
6. Braghini CA, etal., Gene. 2013 Jul 1;523(1):50-7. doi: 10.1016/j.gene.2013.02.054. Epub 2013 Apr 5.
7. Bruttini M, etal., Arch Ophthalmol. 2003 Jul;121(7):1034-8.
8. Campos-Mollo E, etal., Mol Vis. 2007 Sep 13;13:1666-73.
9. Chen J, etal., Mol Vis. 2011;17:1431-5. Epub 2011 May 31.
10. Colomb E, etal., Clin Genet. 2001 Sep;60(3):220-5.
11. Fan BJ, etal., Arch Ophthalmol. 2006 Jan;124(1):102-6.
12. Fan BJ, etal., Mol Vis. 2005 Aug 29;11:625-31.
13. Faucher M, etal., Hum Mol Genet. 2002 Sep 1;11(18):2077-90.
14. Fingert JH, etal., Hum Mol Genet. 1999 May;8(5):899-905.
15. GOA_HUMAN data from the GO Consortium
16. Goldwich A, etal., Kidney Int. 2005 Jan;67(1):140-51.
17. Hewitt AW, etal., Invest Ophthalmol Vis Sci. 2007 Jan;48(1):238-43.
18. Howell KG, etal., J Glaucoma. 2010 Dec;19(9):569-75. doi: 10.1097/IJG.0b013e3181d13020.
19. Jia LY, etal., Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3743-9. doi: 10.1167/iovs.08-3151. Epub 2009 Feb 21.
20. Jia LY, etal., Mol Vis. 2009;15:89-98. Epub 2009 Jan 16.
21. Jurynec MJ, etal., Mol Cell Neurosci. 2003 May;23(1):69-80.
22. Kuchtey J, etal., Eur J Med Genet. 2013 Jun;56(6):292-6. doi: 10.1016/j.ejmg.2013.03.002. Epub 2013 Mar 19.
23. Kumar S, etal., Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1280-7. doi: 10.1167/iovs.12-11223.
24. Liu W, etal., Mol Vis. 2012;18:2241-6. Epub 2012 Aug 10.
25. Mendoza-Reinoso V, etal., Mol Vis. 2012;18:2067-75. Epub 2012 Aug 8.
26. Mengkegale M, etal., Mol Vis. 2008 Mar 4;14:413-7.
27. Michels-Rautenstrauss K, etal., Hum Mutat. 2002 Dec;20(6):479-80.
28. Mukhopadhyay A, etal., Mol Vis. 2002 Nov 15;8:442-8.
29. Naskar R and Thanos S, Mol Vis. 2006 Oct 18;12:1199-210.
30. OMIM Disease Annotation Pipeline
31. Petersen MB, etal., Invest Ophthalmol Vis Sci. 2006 Feb;47(2):620-5.
32. Qu X, etal., Mol Biol Rep. 2010 Jan;37(1):255-61. doi: 10.1007/s11033-009-9667-3. Epub 2009 Aug 18.
33. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. RGD automated import pipeline for gene-chemical interactions
35. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. Saura M, etal., Eur J Hum Genet. 2005 Mar;13(3):384-7.
37. Souzeau E, etal., Ophthalmology. 2013 Jun;120(6):1135-43. doi: 10.1016/j.ophtha.2012.11.029. Epub 2013 Feb 28.
38. Stone EM, etal., Science. 1997 Jan 31;275(5300):668-70.
39. Waryah AM, etal., Gene. 2013 Oct 10;528(2):356-9. doi: 10.1016/j.gene.2013.07.016. Epub 2013 Jul 23.
40. Wiggs JL, etal., Am J Hum Genet. 1998 Nov;63(5):1549-52.
41. Wirtz MK, etal., Invest Ophthalmol Vis Sci. 2010 Jun;51(6):3055-60. doi: 10.1167/iovs.09-4652. Epub 2010 Jan 27.
42. Yen YC, etal., Mol Vis. 2007 Sep 10;13:1627-34.
43. Zhao X, etal., Mol Vis. 2010 Aug 25;16:1728-35.
44. Zillig M, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):223-34.
45. Zode GS, etal., Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1557-65. doi: 10.1167/iovs.11-8837. Print 2012 Mar.
Additional References at PubMed
PMID:8279471   PMID:8513321   PMID:8749308   PMID:9169133   PMID:9280311   PMID:9328473   PMID:9345106   PMID:9361308   PMID:9446806   PMID:9490287   PMID:9497363   PMID:9521427  
PMID:9548973   PMID:9697688   PMID:9863594   PMID:10330365   PMID:10644174   PMID:10819638   PMID:10990486   PMID:11053284   PMID:11133859   PMID:11431441   PMID:11527946   PMID:11738824  
PMID:11773026   PMID:11773029   PMID:11774072   PMID:11807810   PMID:11853639   PMID:11910561   PMID:11923248   PMID:11992263   PMID:12019210   PMID:12060848   PMID:12126543   PMID:12190780  
PMID:12356829   PMID:12362081   PMID:12411077   PMID:12470758   PMID:12477932   PMID:12504739   PMID:12522550   PMID:12615070   PMID:12671462   PMID:12671463   PMID:12697062   PMID:12782842  
PMID:12789574   PMID:12817590   PMID:12851728   PMID:12868033   PMID:12872267   PMID:12912696   PMID:14680806   PMID:14688426   PMID:14702039   PMID:14740993   PMID:14767915   PMID:15025728  
PMID:15137056   PMID:15161538   PMID:15194423   PMID:15255110   PMID:15338275   PMID:15342693   PMID:15354075   PMID:15489334   PMID:15534471   PMID:15646469   PMID:15652337   PMID:15723004  
PMID:15733270   PMID:15795224   PMID:15823921   PMID:15851979   PMID:15944158   PMID:15953455   PMID:16198165   PMID:16226543   PMID:16280977   PMID:16289162   PMID:16316624   PMID:16358725  
PMID:16374045   PMID:16392033   PMID:16458712   PMID:16636654   PMID:16681888   PMID:16688110   PMID:16710414   PMID:16902400   PMID:17122126   PMID:17210859   PMID:17224759   PMID:17304254  
PMID:17317787   PMID:17321191   PMID:17417609   PMID:17417611   PMID:17438518   PMID:17499207   PMID:17516541   PMID:17562996   PMID:17563717   PMID:17605937   PMID:17615537   PMID:17650508  
PMID:17663725   PMID:17679945   PMID:17867509   PMID:17960117   PMID:17966125   PMID:17984096   PMID:18195223   PMID:18214788   PMID:18303389   PMID:18385784   PMID:18427622   PMID:18436825  
PMID:18449353   PMID:18537981   PMID:18591929   PMID:18728751   PMID:18776955   PMID:18841557   PMID:18852424   PMID:18855004   PMID:18952665   PMID:19023451   PMID:19096718   PMID:19148291  
PMID:19180258   PMID:19188438   PMID:19260140   PMID:19287508   PMID:19390644   PMID:19407846   PMID:19662433   PMID:19668597   PMID:19959812   PMID:20021252   PMID:20198978   PMID:20447966  
PMID:20664688   PMID:20668460   PMID:20801516   PMID:20926826   PMID:21031026   PMID:21168818   PMID:21174523   PMID:21203411   PMID:21362503   PMID:21426841   PMID:21552496   PMID:21656515  
PMID:21677793   PMID:21850185   PMID:22194650   PMID:22197377   PMID:22247475   PMID:22463803   PMID:22550394   PMID:22615763   PMID:22809227   PMID:22876119   PMID:22942166   PMID:23028769  
PMID:23029558   PMID:23035116   PMID:23129764   PMID:23218701   PMID:23304066   PMID:23533145   PMID:23629661   PMID:23764838   PMID:23897819   PMID:24003086   PMID:24333014   PMID:24406458  
PMID:24417561   PMID:24563482   PMID:24732711   PMID:24741044   PMID:24766640   PMID:24768183   PMID:24883016   PMID:24940937   PMID:25027323   PMID:25197353   PMID:25268471   PMID:25330346  
PMID:25450062   PMID:25524706   PMID:25582056   PMID:25711070   PMID:25777973   PMID:26095806   PMID:26237198   PMID:26313302   PMID:26396484   PMID:26497787   PMID:26550974   PMID:26871637  
PMID:27355837   PMID:27485216   PMID:27779752   PMID:27900994   PMID:27993484   PMID:28038983   PMID:28153738   PMID:28564705   PMID:28575017   PMID:29056483   PMID:29475084   PMID:29630620  
PMID:30267046   PMID:30389787   PMID:30395621   PMID:30444892   PMID:30484747   PMID:30557320   PMID:30612094   PMID:30802039   PMID:30816137   PMID:30816940   PMID:31302906   PMID:31586073  
PMID:32296183   PMID:32300215   PMID:32410836   PMID:32421983   PMID:32818018   PMID:32937162   PMID:32945492  


Genomics

Comparative Map Data
MYOC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1171,635,417 - 171,652,688 (-)EnsemblGRCh38hg38GRCh38
GRCh381171,635,417 - 171,652,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371171,604,557 - 171,621,828 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,871,180 - 169,888,396 (-)NCBINCBI36hg18NCBI36
Build 341168,336,215 - 168,353,430NCBI
Celera1144,713,951 - 144,731,166 (-)NCBI
Cytogenetic Map1q24.3NCBI
HuRef1142,827,834 - 142,845,046 (-)NCBIHuRef
CHM1_11173,026,640 - 173,043,840 (-)NCBICHM1_1
Myoc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391162,466,719 - 162,477,263 (+)NCBIGRCm39mm39
GRCm39 Ensembl1162,466,724 - 162,477,262 (+)Ensembl
GRCm381162,639,150 - 162,649,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1162,639,155 - 162,649,693 (+)EnsemblGRCm38mm10GRCm38
MGSCv371164,569,281 - 164,579,825 (+)NCBIGRCm37mm9NCBIm37
MGSCv361164,475,844 - 164,486,368 (+)NCBImm8
Celera1165,085,895 - 165,096,434 (+)NCBICelera
Cytogenetic Map1H2.1NCBI
cM Map170.29NCBI
Myoc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21374,976,730 - 74,987,128 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1374,976,730 - 74,987,127 (+)Ensembl
Rnor_6.01380,517,531 - 80,527,928 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1380,517,536 - 80,527,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01385,409,611 - 85,420,008 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41378,303,830 - 78,314,228 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11378,318,017 - 78,328,415 (+)NCBI
Celera1374,726,592 - 74,736,986 (+)NCBICelera
Cytogenetic Map13q22NCBI
Myoc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540612,182,046 - 12,199,669 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540612,182,115 - 12,194,683 (-)NCBIChiLan1.0ChiLan1.0
MYOC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11150,841,630 - 150,858,628 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1150,841,630 - 150,858,628 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01147,128,541 - 147,146,227 (-)NCBIMhudiblu_PPA_v0panPan3
MYOC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1727,335,314 - 27,346,821 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl727,335,314 - 27,346,820 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha726,857,046 - 26,868,545 (+)NCBI
ROS_Cfam_1.0727,136,587 - 27,148,065 (+)NCBI
UMICH_Zoey_3.1726,988,106 - 26,999,596 (+)NCBI
UNSW_CanFamBas_1.0727,022,462 - 27,033,986 (+)NCBI
UU_Cfam_GSD_1.0727,264,790 - 27,276,291 (+)NCBI
Myoc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934497,697,971 - 97,710,064 (+)NCBI
SpeTri2.0NW_00493648115,544,733 - 15,556,813 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYOC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9114,087,374 - 114,098,743 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19114,087,370 - 114,098,765 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29125,551,261 - 125,562,662 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYOC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12557,458,615 - 57,475,329 (+)NCBI
ChlSab1.1 Ensembl2557,459,374 - 57,475,322 (+)Ensembl
Vero_WHO_p1.0NW_02366605559,088,230 - 59,104,345 (+)NCBI
Myoc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477110,066,170 - 10,080,257 (+)NCBI

Position Markers
G42275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,614,375 - 171,614,637UniSTSGRCh37
Build 361169,880,998 - 169,881,260RGDNCBI36
Celera1144,723,767 - 144,724,029RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,837,646 - 142,837,908UniSTS
G42280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,614,660 - 171,614,921UniSTSGRCh37
Build 361169,881,283 - 169,881,544RGDNCBI36
Celera1144,724,052 - 144,724,313RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,837,931 - 142,838,192UniSTS
AL034307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,619,898 - 171,620,044UniSTSGRCh37
Build 361169,886,521 - 169,886,667RGDNCBI36
Celera1144,729,289 - 144,729,435RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,843,169 - 142,843,315UniSTS
PMC156599P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,621,341 - 171,621,590UniSTSGRCh37
Build 361169,887,964 - 169,888,213RGDNCBI36
Celera1144,730,734 - 144,730,983RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,844,614 - 142,844,863UniSTS
PMC310708P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,605,442 - 171,605,631UniSTSGRCh37
Build 361169,872,065 - 169,872,254RGDNCBI36
Celera1144,714,836 - 144,715,025RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,828,719 - 142,828,908UniSTS
PMC310708P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,605,295 - 171,605,491UniSTSGRCh37
Build 361169,871,918 - 169,872,114RGDNCBI36
Celera1144,714,689 - 144,714,885RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,828,572 - 142,828,768UniSTS
PMC310708P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,604,322 - 171,604,487UniSTSGRCh37
Build 361169,870,945 - 169,871,110RGDNCBI36
Celera1144,713,712 - 144,713,881RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,827,595 - 142,827,764UniSTS
MYOC_8491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,604,691 - 171,605,551UniSTSGRCh37
Build 361169,871,314 - 169,872,174RGDNCBI36
Celera1144,714,085 - 144,714,945RGD
HuRef1142,827,968 - 142,828,828UniSTS
D1S3666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,619,312 - 171,619,542UniSTSGRCh37
Build 361169,885,935 - 169,886,165RGDNCBI36
Celera1144,728,703 - 144,728,933RGD
HuRef1142,842,583 - 142,842,813UniSTS
SHGC-75918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,604,872 - 171,605,075UniSTSGRCh37
Build 361169,871,495 - 169,871,698RGDNCBI36
Celera1144,714,266 - 144,714,469RGD
Cytogenetic Map1q23-q24UniSTS
HuRef1142,828,149 - 142,828,352UniSTS
TNG Radiation Hybrid Map161507.0UniSTS
GeneMap99-GB4 RH Map1623.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:264
Count of miRNA genes:223
Interacting mature miRNAs:241
Transcripts:ENST00000037502
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 26 3 26 23 19 4 22
Medium 1582 1557 556 57 53 2643 1468 598 23 223 781 56 1005 1993
Low 601 672 385 118 202 19 1333 614 217 122 932 473 100 192 760 1
Below cutoff 56 620 527 226 926 222 126 43 2468 153 174 92 6 3 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY599652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF152764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ227302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ237046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ237047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR610407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT966405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN335319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT126741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT126742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT126743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT126745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000037502   ⟹   ENSP00000037502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1171,635,417 - 171,652,688 (-)Ensembl
RefSeq Acc Id: ENST00000638471   ⟹   ENSP00000491206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1171,635,417 - 171,652,629 (-)Ensembl
RefSeq Acc Id: NM_000261   ⟹   NP_000252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,635,417 - 171,652,688 (-)NCBI
GRCh371171,604,557 - 171,621,773 (-)ENTREZGENE
Build 361169,871,180 - 169,888,396 (-)NCBI Archive
HuRef1142,827,834 - 142,845,046 (-)ENTREZGENE
CHM1_11173,026,640 - 173,043,840 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000252 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC14264 (Get FASTA)   NCBI Sequence Viewer  
  AAC51725 (Get FASTA)   NCBI Sequence Viewer  
  AAC52051 (Get FASTA)   NCBI Sequence Viewer  
  AAH29261 (Get FASTA)   NCBI Sequence Viewer  
  AAT09137 (Get FASTA)   NCBI Sequence Viewer  
  ACI42983 (Get FASTA)   NCBI Sequence Viewer  
  ACI62292 (Get FASTA)   NCBI Sequence Viewer  
  ACI62293 (Get FASTA)   NCBI Sequence Viewer  
  AKK25263 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33668 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33669 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33670 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33671 (Get FASTA)   NCBI Sequence Viewer  
  AMH87776 (Get FASTA)   NCBI Sequence Viewer  
  AMH87777 (Get FASTA)   NCBI Sequence Viewer  
  AMH87778 (Get FASTA)   NCBI Sequence Viewer  
  AMH87779 (Get FASTA)   NCBI Sequence Viewer  
  AMH87780 (Get FASTA)   NCBI Sequence Viewer  
  AMH87781 (Get FASTA)   NCBI Sequence Viewer  
  BAA23531 (Get FASTA)   NCBI Sequence Viewer  
  BAA24532 (Get FASTA)   NCBI Sequence Viewer  
  BAC04997 (Get FASTA)   NCBI Sequence Viewer  
  BAG37831 (Get FASTA)   NCBI Sequence Viewer  
  BAG62556 (Get FASTA)   NCBI Sequence Viewer  
  BAG62572 (Get FASTA)   NCBI Sequence Viewer  
  BAG62854 (Get FASTA)   NCBI Sequence Viewer  
  CAB09899 (Get FASTA)   NCBI Sequence Viewer  
  EAW90903 (Get FASTA)   NCBI Sequence Viewer  
  Q99972 (Get FASTA)   NCBI Sequence Viewer  
  QKX44763 (Get FASTA)   NCBI Sequence Viewer  
  QQK86044 (Get FASTA)   NCBI Sequence Viewer  
  QQK86045 (Get FASTA)   NCBI Sequence Viewer  
  QQK86046 (Get FASTA)   NCBI Sequence Viewer  
  QQK86048 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000252   ⟸   NM_000261
- Peptide Label: precursor
- UniProtKB: Q99972 (UniProtKB/Swiss-Prot),   A0A0S2Z421 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000491206   ⟸   ENST00000638471
RefSeq Acc Id: ENSP00000037502   ⟸   ENST00000037502
Protein Domains
Olfactomedin-like

Promoters
RGD ID:6858114
Promoter ID:EPDNEW_H2221
Type:multiple initiation site
Name:MYOC_1
Description:myocilin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,652,688 - 171,652,748EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) single nucleotide variant Glaucoma 1, open angle, A [RCV000008409] Chr1:171636131 [GRCh38]
Chr1:171605271 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) single nucleotide variant Glaucoma 1, open angle, A [RCV000008410] Chr1:171636349 [GRCh38]
Chr1:171605489 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) single nucleotide variant Glaucoma 1, open angle, A [RCV000008411]|not provided [RCV000255144] Chr1:171636331 [GRCh38]
Chr1:171605471 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) single nucleotide variant Glaucoma 1, open angle, A [RCV000008412]|Primary open angle glaucoma [RCV000369379]|Severe combined immunodeficiency disease [RCV000735309]|not provided [RCV001200372] Chr1:171636338 [GRCh38]
Chr1:171605478 [GRCh37]
Chr1:1q24.3
pathogenic|likely pathogenic
NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser) single nucleotide variant Glaucoma 1, open angle, A [RCV000008413] Chr1:171636010 [GRCh38]
Chr1:171605150 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV000008414] Chr1:171636000 [GRCh38]
Chr1:171605140 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV000008415]|not provided [RCV000255116] Chr1:171636341 [GRCh38]
Chr1:171605481 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV000008416] Chr1:171636430 [GRCh38]
Chr1:171605570 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu) single nucleotide variant Glaucoma 1, open angle, A [RCV000008417] Chr1:171636173 [GRCh38]
Chr1:171605313 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) single nucleotide variant Glaucoma 1, open angle, A [RCV000991157]|Glaucoma 1, open angle, a, autosomal recessive [RCV000008418]|Glaucoma [RCV001100518]|not provided [RCV000944958] Chr1:171652476 [GRCh38]
Chr1:171621616 [GRCh37]
Chr1:1q24.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV000008419] Chr1:171636143 [GRCh38]
Chr1:171605283 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1196G>T (p.Gly399Val) single nucleotide variant Glaucoma 1, open angle, a, digenic [RCV000008420] Chr1:171636244 [GRCh38]
Chr1:171605384 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.144G>T (p.Gln48His) single nucleotide variant Glaucoma 1, open angle, A [RCV000008421]|Glaucoma 3, primary congenital, a, digenic [RCV000008422]|MYOC-Related Disorders [RCV000296614]|not provided [RCV001520657] Chr1:171652468 [GRCh38]
Chr1:171621608 [GRCh37]
Chr1:1q24.3
pathogenic|benign
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr) single nucleotide variant Glaucoma 1, open angle, A [RCV000008423] Chr1:171636706 [GRCh38]
Chr1:171605846 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV000008424] Chr1:171636686 [GRCh38]
Chr1:171605826 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1138G>C (p.Asp380His) single nucleotide variant Glaucoma 1, open angle, A [RCV000008425] Chr1:171636302 [GRCh38]
Chr1:171605442 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn) single nucleotide variant Glaucoma 1, open angle, A [RCV000023126] Chr1:171636010 [GRCh38]
Chr1:171605150 [GRCh37]
Chr1:1q24.3
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV000371420]|Glaucoma [RCV000316846]|not provided [RCV000994193]|not specified [RCV000173089] Chr1:171652385 [GRCh38]
Chr1:171621525 [GRCh37]
Chr1:1q24.3
benign|likely benign|uncertain significance
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1
pathogenic
NM_000261.2(MYOC):c.855G>T (p.Thr285=) single nucleotide variant Glaucoma 1, open angle, A [RCV000321707]|Glaucoma [RCV000283082]|not provided [RCV000994188]|not specified [RCV000177024] Chr1:171636585 [GRCh38]
Chr1:171605725 [GRCh37]
Chr1:1q24.3
benign|likely benign|uncertain significance
NM_000261.2(MYOC):c.366C>T (p.Gly122=) single nucleotide variant Glaucoma 1, open angle, A [RCV001096966]|not provided [RCV000173090] Chr1:171652246 [GRCh38]
Chr1:171621386 [GRCh37]
Chr1:1q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000261.2(MYOC):c.1491T>G (p.Tyr497Ter) single nucleotide variant not provided [RCV000153526] Chr1:171635949 [GRCh38]
Chr1:171605089 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1041T>C (p.Tyr347=) single nucleotide variant Glaucoma 1, open angle, A [RCV000397534]|Glaucoma [RCV000297747]|not specified [RCV000427737] Chr1:171636399 [GRCh38]
Chr1:171605539 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr) single nucleotide variant Glaucoma 1, open angle, A [RCV000352302]|Glaucoma [RCV000295103] Chr1:171652044 [GRCh38]
Chr1:171621184 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.304T>A (p.Leu102Met) single nucleotide variant Glaucoma 1, open angle, A [RCV000301813]|Glaucoma [RCV000265391] Chr1:171652308 [GRCh38]
Chr1:171621448 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.39T>G (p.Pro13=) single nucleotide variant Glaucoma 1, open angle, A [RCV000382716]|Glaucoma [RCV000288537]|not provided [RCV000946527] Chr1:171652573 [GRCh38]
Chr1:171621713 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.728C>A (p.Thr243Asn) single nucleotide variant Glaucoma 1, open angle, A [RCV000374266]|Glaucoma [RCV000282102] Chr1:171638599 [GRCh38]
Chr1:171607739 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.975G>A (p.Thr325=) single nucleotide variant Glaucoma 1, open angle, A [RCV000328410]|Glaucoma [RCV000271061]|not provided [RCV000952463] Chr1:171636465 [GRCh38]
Chr1:171605605 [GRCh37]
Chr1:1q24.3
benign|likely benign
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NM_000261.2(MYOC):c.440G>A (p.Arg147Gln) single nucleotide variant Glaucoma 1, open angle, A [RCV000346645]|Glaucoma [RCV000396227]|not provided [RCV000994190] Chr1:171652172 [GRCh38]
Chr1:171621312 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) single nucleotide variant Primary open angle glaucoma [RCV000233750] Chr1:171636329 [GRCh38]
Chr1:171605469 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.865G>A (p.Asp289Asn) single nucleotide variant Glaucoma 1, open angle, A [RCV000380001]|Glaucoma [RCV000323016] Chr1:171636575 [GRCh38]
Chr1:171605715 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.992C>T (p.Ser331Leu) single nucleotide variant Glaucoma 1, open angle, A [RCV000311074]|Glaucoma [RCV000368089] Chr1:171636448 [GRCh38]
Chr1:171605588 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1188G>A (p.Glu396=) single nucleotide variant Glaucoma 1, open angle, A [RCV000397533]|Glaucoma [RCV000337368]|not provided [RCV000972663] Chr1:171636252 [GRCh38]
Chr1:171605392 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.477A>G (p.Leu159=) single nucleotide variant Glaucoma 1, open angle, A [RCV000312787]|Glaucoma [RCV000390810]|not provided [RCV000946526] Chr1:171652135 [GRCh38]
Chr1:171621275 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.648G>A (p.Lys216=) single nucleotide variant Glaucoma 1, open angle, A [RCV000334709]|Glaucoma [RCV000402548]|not provided [RCV001523294] Chr1:171638679 [GRCh38]
Chr1:171607819 [GRCh37]
Chr1:1q24.3
benign|uncertain significance
NM_000261.2(MYOC):c.114G>A (p.Arg38=) single nucleotide variant Glaucoma 1, open angle, A [RCV000351474]|Glaucoma [RCV000386311] Chr1:171652498 [GRCh38]
Chr1:171621638 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.823A>T (p.Lys275Ter) single nucleotide variant Glaucoma [RCV000239401] Chr1:171636617 [GRCh38]
Chr1:171605757 [GRCh37]
Chr1:1q24.3
risk factor
NM_000261.2(MYOC):c.*331A>G single nucleotide variant Glaucoma 1, open angle, A [RCV000331898]|Glaucoma [RCV000274235] Chr1:171635594 [GRCh38]
Chr1:171604734 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*426C>T single nucleotide variant Glaucoma 1, open angle, A [RCV000333008]|Glaucoma [RCV000371353] Chr1:171635499 [GRCh38]
Chr1:171604639 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*241A>G single nucleotide variant Glaucoma 1, open angle, A [RCV000292064]|Glaucoma [RCV000384078] Chr1:171635684 [GRCh38]
Chr1:171604824 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.871G>A (p.Val291Ile) single nucleotide variant Glaucoma 1, open angle, A [RCV000362229]|Glaucoma [RCV000269977] Chr1:171636569 [GRCh38]
Chr1:171605709 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.224A>G (p.Gln75Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV000262848]|Glaucoma [RCV000318054] Chr1:171652388 [GRCh38]
Chr1:171621528 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.239C>A (p.Thr80Asn) single nucleotide variant Glaucoma 1, open angle, A [RCV000266535]|Glaucoma [RCV000361088] Chr1:171652373 [GRCh38]
Chr1:171621513 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*71G>A single nucleotide variant Glaucoma 1, open angle, A [RCV000403727]|Glaucoma [RCV000284655] Chr1:171635854 [GRCh38]
Chr1:171604994 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*182C>A single nucleotide variant Glaucoma 1, open angle, A [RCV000343086]|Glaucoma [RCV000285690] Chr1:171635743 [GRCh38]
Chr1:171604883 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.335A>G (p.Glu112Gly) single nucleotide variant Glaucoma 1, open angle, A [RCV000310099]|Glaucoma [RCV000364737] Chr1:171652277 [GRCh38]
Chr1:171621417 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*188C>T single nucleotide variant Glaucoma 1, open angle, A [RCV000325978]|Glaucoma [RCV000382525] Chr1:171635737 [GRCh38]
Chr1:171604877 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) single nucleotide variant Glaucoma [RCV001100276]|not provided [RCV000514041]|not specified [RCV000455387] Chr1:171636247 [GRCh38]
Chr1:171605387 [GRCh37]
Chr1:1q24.3
benign|likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
Single allele deletion 1q24q25 microdeletion syndrome [RCV000754969] Chr1:169095250..175778910 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
NM_000261.2(MYOC):c.612G>T (p.Thr204=) single nucleotide variant Glaucoma 1, open angle, A [RCV001100396]|Glaucoma [RCV001100395]|not provided [RCV000903503] Chr1:171638715 [GRCh38]
Chr1:171607855 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.158T>C (p.Val53Ala) single nucleotide variant MYOC-Related Disorders [RCV000778200] Chr1:171652454 [GRCh38]
Chr1:171621594 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val) single nucleotide variant MYOC-Related Disorders [RCV000778198] Chr1:171636106 [GRCh38]
Chr1:171605246 [GRCh37]
Chr1:1q24.3
likely pathogenic
NM_000261.2(MYOC):c.343G>T (p.Glu115Ter) single nucleotide variant MYOC-Related Disorders [RCV000778199] Chr1:171652269 [GRCh38]
Chr1:171621409 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3(chr1:171578593-171658142)x3 copy number gain not provided [RCV000849055] Chr1:171578593..171658142 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q24.3(chr1:171575046-171613658)x1 copy number loss not provided [RCV000849516] Chr1:171575046..171613658 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) single nucleotide variant Glaucoma 1, open angle, A [RCV001096963]|Glaucoma [RCV001096962] Chr1:171652139 [GRCh38]
Chr1:171621279 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.578G>A (p.Arg193Gln) single nucleotide variant not provided [RCV000994189] Chr1:171652034 [GRCh38]
Chr1:171621174 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1345G>A (p.Val449Ile) single nucleotide variant Glaucoma 1, open angle, A [RCV001098517]|Glaucoma [RCV001098516] Chr1:171636095 [GRCh38]
Chr1:171605235 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q24.3(chr1:171578593-171658142)x3 copy number gain not provided [RCV000848979] Chr1:171578593..171658142 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1278C>T (p.Val426=) single nucleotide variant not provided [RCV000994187] Chr1:171636162 [GRCh38]
Chr1:171605302 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.318G>C (p.Gln106His) single nucleotide variant not provided [RCV000994191] Chr1:171652294 [GRCh38]
Chr1:171621434 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q24.3(chr1:171578593-171610586)x1 copy number loss not provided [RCV000847653] Chr1:171578593..171610586 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1317C>T (p.Val439=) single nucleotide variant not provided [RCV000994186] Chr1:171636123 [GRCh38]
Chr1:171605263 [GRCh37]
Chr1:1q24.3
likely benign
NM_000261.2(MYOC):c.244C>T (p.Arg82Cys) single nucleotide variant not provided [RCV000994192] Chr1:171652368 [GRCh38]
Chr1:171621508 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*273G>A single nucleotide variant Glaucoma 1, open angle, A [RCV001096763]|Glaucoma [RCV001096764] Chr1:171635652 [GRCh38]
Chr1:171604792 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.864C>T (p.Ile288=) single nucleotide variant Glaucoma 1, open angle, A [RCV001096857]|Glaucoma [RCV001096858] Chr1:171636576 [GRCh38]
Chr1:171605716 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.1053C>T (p.Thr351=) single nucleotide variant Glaucoma 1, open angle, A [RCV001102258]|Glaucoma [RCV001100279] Chr1:171636387 [GRCh38]
Chr1:171605527 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV000852370] Chr1:171636287 [GRCh38]
Chr1:171605427 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV001102259] Chr1:171636562 [GRCh38]
Chr1:171605702 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.624C>G (p.Asp208Glu) single nucleotide variant Glaucoma 1, open angle, A [RCV001100394]|Glaucoma [RCV001100393] Chr1:171638703 [GRCh38]
Chr1:171607843 [GRCh37]
Chr1:1q24.3
benign
NM_000261.2(MYOC):c.611C>T (p.Thr204Met) single nucleotide variant Glaucoma 1, open angle, A [RCV001100400]|Glaucoma [RCV001100399] Chr1:171638716 [GRCh38]
Chr1:171607856 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.600A>G (p.Arg200=) single nucleotide variant Glaucoma 1, open angle, A [RCV001102365]|Glaucoma [RCV001102366] Chr1:171652012 [GRCh38]
Chr1:171621152 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.573T>A (p.Thr191=) single nucleotide variant Glaucoma 1, open angle, A [RCV001102367]|Glaucoma [RCV001102368] Chr1:171652039 [GRCh38]
Chr1:171621179 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.369C>T (p.Thr123=) single nucleotide variant Glaucoma 1, open angle, A [RCV001096964]|Glaucoma [RCV001096965] Chr1:171652243 [GRCh38]
Chr1:171621383 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1272G>C (p.Gln424His) single nucleotide variant Glaucoma 1, open angle, A [RCV001100275]|Glaucoma [RCV001100274] Chr1:171636168 [GRCh38]
Chr1:171605308 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.612G>A (p.Thr204=) single nucleotide variant Glaucoma 1, open angle, A [RCV001100398]|Glaucoma [RCV001100397] Chr1:171638715 [GRCh38]
Chr1:171607855 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.801T>C (p.Tyr267=) single nucleotide variant Glaucoma 1, open angle, A [RCV001098613]|Glaucoma [RCV001098612] Chr1:171636639 [GRCh38]
Chr1:171605779 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.652G>A (p.Glu218Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV001098614]|Glaucoma [RCV001098615] Chr1:171638675 [GRCh38]
Chr1:171607815 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys) single nucleotide variant Glaucoma [RCV001098515] Chr1:171636032 [GRCh38]
Chr1:171605172 [GRCh37]
Chr1:1q24.3
uncertain significance
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 copy number loss not provided [RCV001005149] Chr1:167430471..174635618 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) single nucleotide variant Glaucoma 1, open angle, A [RCV001100278]|Glaucoma [RCV001100277]|not provided [RCV001517208] Chr1:171636386 [GRCh38]
Chr1:171605526 [GRCh37]
Chr1:1q24.3
benign
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) single nucleotide variant Glaucoma 1, open angle, A [RCV001102463]|Glaucoma [RCV001100519]|not provided [RCV001520658] Chr1:171652578 [GRCh38]
Chr1:171621718 [GRCh37]
Chr1:1q24.3
benign|likely benign
NM_000261.2(MYOC):c.31T>C (p.Phe11Leu) single nucleotide variant Glaucoma 1, open angle, A [RCV001102464]|Glaucoma [RCV001102465] Chr1:171652581 [GRCh38]
Chr1:171621721 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.*73G>C single nucleotide variant Glaucoma 1, open angle, A [RCV001098514]|Glaucoma [RCV001098513] Chr1:171635852 [GRCh38]
Chr1:171604992 [GRCh37]
Chr1:1q24.3
benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile) single nucleotide variant not provided [RCV001312107] Chr1:171636382 [GRCh38]
Chr1:171605522 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.271C>T (p.Arg91Ter) single nucleotide variant Glaucoma 1, open angle, A [RCV001334341] Chr1:171652341 [GRCh38]
Chr1:171621481 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.365G>A (p.Gly122Asp) single nucleotide variant not provided [RCV001354349] Chr1:171652247 [GRCh38]
Chr1:171621387 [GRCh37]
Chr1:1q24.3
uncertain significance
NM_000261.2(MYOC):c.1357del (p.Tyr453fs) deletion Glaucoma 1, open angle, A [RCV001329743] Chr1:171636083 [GRCh38]
Chr1:171605223 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.1464C>T (p.Ala488=) single nucleotide variant not provided [RCV001312106] Chr1:171635976 [GRCh38]
Chr1:171605116 [GRCh37]
Chr1:1q24.3
likely benign
NM_000261.2(MYOC):c.439C>T (p.Arg147Ter) single nucleotide variant Glaucoma 1, open angle, A [RCV001331102] Chr1:171652173 [GRCh38]
Chr1:171621313 [GRCh37]
Chr1:1q24.3
pathogenic
NM_000261.2(MYOC):c.985G>A (p.Val329Met) single nucleotide variant not provided [RCV001437692] Chr1:171636455 [GRCh38]
Chr1:171605595 [GRCh37]
Chr1:1q24.3
likely benign
NM_000261.2(MYOC):c.1499A>G (p.Lys500Arg) single nucleotide variant not provided [RCV001519562] Chr1:171635941 [GRCh38]
Chr1:171605081 [GRCh37]
Chr1:1q24.3
benign
NM_000261.2(MYOC):c.1435T>C (p.Tyr479His) single nucleotide variant Glaucoma 1, open angle, A [RCV001527405] Chr1:171636005 [GRCh38]
Chr1:171605145 [GRCh37]
Chr1:1q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7610 AgrOrtholog
COSMIC MYOC COSMIC
Ensembl Genes ENSG00000034971 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000037502 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491206 UniProtKB/TrEMBL
Ensembl Transcript ENST00000037502 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638471 UniProtKB/TrEMBL
GTEx ENSG00000034971 GTEx
HGNC ID HGNC:7610 ENTREZGENE
Human Proteome Map MYOC Human Proteome Map
InterPro Myocilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4653 ENTREZGENE
OMIM 137750 OMIM
  601652 OMIM
PANTHER PTHR23192:SF33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31415 PharmGKB
PROSITE OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0H3W5P3_HUMAN UniProtKB/TrEMBL
  A0A0S2Z412_HUMAN UniProtKB/TrEMBL
  A0A0S2Z416_HUMAN UniProtKB/TrEMBL
  A0A0S2Z421 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z481_HUMAN UniProtKB/TrEMBL
  A0A140CTW9_HUMAN UniProtKB/TrEMBL
  A0A140CTX0_HUMAN UniProtKB/TrEMBL
  A0A140CTX1_HUMAN UniProtKB/TrEMBL
  A0A140CTX2_HUMAN UniProtKB/TrEMBL
  A0A140CTX3_HUMAN UniProtKB/TrEMBL
  A0A140CTX4_HUMAN UniProtKB/TrEMBL
  A0A1W2PP09_HUMAN UniProtKB/TrEMBL
  A0A7G3V676_HUMAN UniProtKB/TrEMBL
  A0A7T6ZK44_HUMAN UniProtKB/TrEMBL
  A0A7T6ZK47_HUMAN UniProtKB/TrEMBL
  A0A7T6ZK79_HUMAN UniProtKB/TrEMBL
  A0A7T6ZKF8_HUMAN UniProtKB/TrEMBL
  A0A7T6ZL00_HUMAN UniProtKB/TrEMBL
  B6ECI7_HUMAN UniProtKB/TrEMBL
  B6V6K6_HUMAN UniProtKB/TrEMBL
  B6V6K7_HUMAN UniProtKB/TrEMBL
  MYOC_HUMAN UniProtKB/Swiss-Prot
  Q6PKX1_HUMAN UniProtKB/TrEMBL
  Q99972 ENTREZGENE
UniProt Secondary B2RD84 UniProtKB/Swiss-Prot
  O00620 UniProtKB/Swiss-Prot
  Q7Z6Q9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 MYOC  myocilin  MYOC  myocilin, trabecular meshwork inducible glucocorticoid response  Symbol and/or name change 5135510 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_other Myocilin allele-specific phenotype database: www.myocilin.com