MYOC (myocilin)

Gene

• Entrez ID: 4653
• Gene name: Myocilin
• Gene symbol: MYOC
• Synonyms (NCBI Gene): GLC1A, GPOA, JOAG, JOAG1, TIGR
• Disease Acronyms (UniProt): GLC1A
• Chromosome: 1
• Chromosome location: 1q24.3
• Summary: MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936694	C>A	Pathogenic	Coding sequence variant, missense variant
rs74315328	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315329	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs74315330	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315331	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs74315332	G>T	Pathogenic	Missense variant, coding sequence variant
rs74315334	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315335	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315336	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315337	G>A,C,T	Benign, pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs74315338	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315339	C>A	Pathogenic	Missense variant, coding sequence variant
rs74315340	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315341	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909193	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909194	C>G	Pathogenic	Missense variant, coding sequence variant
rs140967767	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs145354114	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs878854408	A>G	Pathogenic	Missense variant, coding sequence variant
rs879255525	T>A	Risk-factor	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005837	hsa-miR-204-5p	Microarray	21282569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IDA	23629661
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IDA	17984096
GO:0001968	Function	Fibronectin binding	IPI	11773026
GO:0005109	Function	Frizzled binding	IPI	19188438
GO:0005515	Function	Protein binding	IPI	11773029, 12019210, 19188438, 20926826, 23897819, 32296183
GO:0005615	Component	Extracellular space	IDA	17317787
GO:0005741	Component	Mitochondrial outer membrane	IDA	17516541
GO:0005743	Component	Mitochondrial inner membrane	IDA	17516541
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17516541
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	11053284
GO:0005929	Component	Cilium	IEA
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	21656515
GO:0014734	Process	Skeletal muscle hypertrophy	ISS
GO:0022011	Process	Myelination in peripheral nervous system	ISS
GO:0030335	Process	Positive regulation of cell migration	IDA	21656515
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031175	Process	Neuron projection development	IMP	19959812
GO:0031410	Component	Cytoplasmic vesicle	IDA	11431441
GO:0032027	Function	Myosin light chain binding	IPI	11773029
GO:0033268	Component	Node of Ranvier	ISS
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IDA	17984096
GO:0038031	Process	Non-canonical Wnt signaling pathway via JNK cascade	IMP	19188438
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	ISS
GO:0043408	Process	Regulation of MAPK cascade	IDA	23629661
GO:0045162	Process	Clustering of voltage-gated sodium channels	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	19188438
GO:0051497	Process	Negative regulation of stress fiber assembly	IDA	17984096
GO:0051894	Process	Positive regulation of focal adhesion assembly	IDA	18855004
GO:0051897	Process	Positive regulation of protein kinase B signaling	IDA	21656515
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IDA	17516541
GO:0060348	Process	Bone development	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	11773026
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	18855004

Other IDs

• MIM: 601652
• HGNC: 7610
• e!Ensembl: ENSG00000034971

Protein

• UniProt ID: Q99972
• Protein name: Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork-induced glucocorticoid response protein) [Cleaved into: Myocilin, N-terminal fragment (Myocilin 20 kDa N-terminal fragment); Myocilin, C-terminal fragment (Myocilin 35 kDa N-terminal fragment)]
• Protein function: Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhe
• PDB: 4WXQ, 4WXS, 4WXU, 6OU0, 6OU1, 6OU2, 6OU3, 6PKD, 6PKE, 6PKF, 7SIB, 7SIJ, 7SJT, 7SJU, 7SJV, 7SJW, 7SKD, 7SKE, 7SKF, 7SKG, 7T8D, 8FRR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02191	OLF	248 → 501	Olfactomedin-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone m
• Sequence:

  MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESS
  CPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRE
  LGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARL
  RRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
  GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFE
  YDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEI
  PGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN
  IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
  PLEKKLFAWDNLNMVTYDIKLSKM

• Sequence length: 504

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital glaucoma	Congenital glaucoma	rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs104893629, rs587778873, rs587778875, rs766425037, rs72549380, rs148542782, rs893198212, rs749073455, rs377049098, rs771076928, rs56010818, rs777678299, rs72549376
Glaucoma	Glaucoma, Glaucoma, Open-Angle, Glaucoma, Primary Open Angle, GLAUCOMA 1, OPEN ANGLE, A, GLAUCOMA 3, PRIMARY CONGENITAL, A, Glaucoma of childhood, Juvenile glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	30104761, 30389787, 21059646, 24732711, 9005853, 19023451, 11803488, 17615537, 23304066, 11815346, 10815160, 17562996, 12872267, 12189160, 22933836, 9639450, 11535458, 20021252, 9345106, 9535666, 17210859, 15795224, 9521427, 10340788, 15025728, 12860809, 16401791, 25524706, 10980537, 9697688, 12356829, 9490287, 12442283, 10916185, 12362081, 9328473, 9510647, 10196380, 10798654, 15534471, 10330365, 11774072, 17499207, 9361308, 10819638, 10644174, 11004290, 10873982, 9863594, 15255110, 9792882, 15733270, 21730848
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Open angle glaucoma	Secondary Open Angle Glaucoma	rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs1553534421, rs774258585	21059646
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005

Unknown
Disease term	Disease name	Evidence	References	Source
Cardioembolic Stroke	Cardioembolic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	22197377, 24279319, 25027323, 38168102
Adenoma	Associate	36220364
Blindness	Associate	17663725, 17984096, 23028669
Corneal Dystrophies Hereditary	Associate	18427622
Diabetes Mellitus Type 1	Associate	23566828
Drug Related Side Effects and Adverse Reactions	Associate	25027323
Early Onset Glaucoma	Associate	18427622, 18449353, 22197377, 36217948
Edema	Associate	32945492
Exfoliation Syndrome	Associate	12789137, 34081096
Eye Diseases	Associate	21655360, 25027323, 31009450, 32945492, 36579626
Eye Injuries Penetrating	Associate	30267046
Glaucoma	Associate	10459044, 11068187, 11774072, 12789137, 12847420, 15235575, 15723004, 16288197, 16636654, 17417609, 17499207, 17563717, 17650508, 17663725, 17984096, 18449353, 19023451, 19145250, 19260140, 19390644, 19668597, 20107173, 20447966, 20926826, 21283635, 21528004, 21552496, 21655191, 22197377, 22615763, 22933836, 23028669, 23028769, 23035116, 23304066, 23517641, 23922489, 24279319, 24333014, 24406458, 24732711, 25027323, 25524706, 26396484, 27080696, 27993484, 28264060, 28575017, 29056483, 29402077, 29630620, 29665417, 30267046, 30557320, 30816137, 30816940, 30906929, 31009450, 31270212, 31655040, 31959993, 32410836, 32937162, 33713785, 34081096, 34264281, 35196929, 36217948, 36579626, 38168102, 39337505, 7762566, 9497363, 9535666, 9772276, 9863594
Glaucoma 1 Open Angle A	Associate	15547491, 20806035, 21677793, 23566828, 23922489, 24883016, 29540704, 30444892, 32300215, 36543942, 9863594
Glaucoma 1 Open Angle J	Associate	16936947
Glaucoma 3 Primary Congenital A	Associate	15723004, 21031026, 23218701, 23922489, 27485216, 31367175, 36217948
Glaucoma Angle Closure	Associate	25268471
Glaucoma Open Angle	Associate	10321531, 10459044, 10873982, 11815346, 11992263, 12447164, 12789137, 12847420, 14627955, 15108121, 15547491, 15723004, 16148883, 16280977, 16466716, 16636654, 16885188, 16936947, 17417609, 17417611, 17499207, 17563717, 17615537, 18334962, 18385784, 18427622, 18449353, 18776955, 19145250, 19180258, 19390644, 19784393, 20107173, 20668460, 21203411, 21552496, 21655360, 21677793, 22194650, 22550394, 22736945, 22876119, 22879734, 22933836, 23028769, 23304066, 23517641, 23566828, 23922489, 24003086, 24279319, 24406458, 24732711, 25027323, 25414181, 25450062, 25637523, 25669751, 25777973, 26237198, 26396484, 27080696, 27092720, 27900994, 27993484, 28282485, 29402077, 29540704, 30267046, 30444892, 30816137, 30816940, 30906929, 31653660, 32410836, 32476818, 32818018, 32937162, 32945492, 33713785, 33725475, 34081096, 34264281, 35196929, 36220364, 36579626, 37032519, 39809167, 7762566, 8889553, 8981704, 9222961, 9280311, 9510647, 9535666, 9772276, 9832047, 9863594
Headache	Associate	32945492
Inflammation	Associate	26396484
Intracranial Hypertension	Associate	21283635, 22615763
Lead Poisoning Nervous System	Associate	17984096
Low Tension Glaucoma	Associate	15851979, 30816940, 33725475, 34081096
Lymphoma Non Hodgkin	Associate	37410378
Metabolic Diseases	Associate	36834493
Microcoria congenital	Associate	16288197
Mitochondrial Diseases	Associate	19390644
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	19390644
Myopia	Associate	17438518, 19180258, 19260140, 24766640
Neoplasms	Associate	22615763
Neoplasms Adipose Tissue	Associate	36834493
Obesity	Associate	36834493
Ocular Hypertension	Associate	11815346, 16936947, 21655191, 23304066, 24333014, 30267046, 32937162, 9222961
Optic Nerve Diseases	Associate	9222961
Optic Nerve Hypoplasia	Associate	22197377
Optic Nerve Injuries	Associate	36543942
Pigmentation Disorders	Associate	36543942
Poikiloderma with Neutropenia	Associate	21677793
Thymoma	Associate	30787364
Vision Disorders	Associate	22197377, 24279319, 32937162, 32945492