MYOCOS

Summary

MYOCOS (myocilin opposite strand, HGNC:53429) is a protein-coding gene on chromosome 1q24.3, encoding Myocilin opposite strand protein (A0A1B0GUC4).

At a glance

• MANE Select transcript: NM_001391940

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53429
Approved symbol	MYOCOS
Name	myocilin opposite strand
Location	1q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283683
Ensembl biotype	protein_coding
Entrez	110806290

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000636697, ENST00000636788, ENST00000637303, ENST00000637642, ENST00000686038, ENST00000686330

RefSeq mRNA: 2 — MANE Select: NM_001391940 NM_001368164, NM_001391940

CCDS: CCDS91106

Canonical transcript exons

ENST00000637642 — 3 exons

Exon	Start	End
ENSE00003795420	171623841	171623978
ENSE00003798686	171626454	171626888
ENSE00003929891	171622243	171622332

Expression profiles

Bgee: expression breadth broad, 62 present calls, max score 77.43.

Top tissues by expression

97 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.43	gold quality
endometrium	UBERON:0001295	62.65	gold quality
right uterine tube	UBERON:0001302	59.15	gold quality
mucosa of stomach	UBERON:0001199	58.08	gold quality
kidney	UBERON:0002113	56.98	gold quality
cortex of kidney	UBERON:0001225	56.29	gold quality
adult mammalian kidney	UBERON:0000082	55.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	54.15	silver quality
ganglionic eminence	UBERON:0004023	53.92	gold quality
cortical plate	UBERON:0005343	53.74	gold quality
metanephros cortex	UBERON:0010533	52.74	gold quality
ventricular zone	UBERON:0003053	52.55	gold quality
bone marrow cell	CL:0002092	51.58	gold quality
fallopian tube	UBERON:0003889	46.64	gold quality
skeletal muscle tissue	UBERON:0001134	45.35	gold quality
endocervix	UBERON:0000458	43.97	gold quality
muscle tissue	UBERON:0002385	43.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	43.28	gold quality
granulocyte	CL:0000094	42.87	silver quality
primary visual cortex	UBERON:0002436	42.48	gold quality
adrenal tissue	UBERON:0018303	42.40	silver quality
liver	UBERON:0002107	41.97	gold quality
superior frontal gyrus	UBERON:0002661	41.42	silver quality
stromal cell of endometrium	CL:0002255	41.41	silver quality
bone marrow	UBERON:0002371	40.88	gold quality
tonsil	UBERON:0002372	40.88	gold quality
ascending aorta	UBERON:0001496	40.14	silver quality
thoracic aorta	UBERON:0001515	40.00	silver quality
lower esophagus muscularis layer	UBERON:0035833	39.33	gold quality
lower esophagus	UBERON:0013473	39.32	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	219.81
E-ANND-3	no	3.84

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Myocilin opposite strand protein — A0A1B0GUC4 (reviewed: A0A1B0GUC4)

All UniProt accessions (3): A0A1B0GUC4, A0A8I5KYT2, A0AAA9Y3V5

RefSeq proteins (2): NP_001355093, NP_001378869* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUC4-F1	70.27	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr1q24

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

26 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYOCOS	SPAG4	Q9NPE6	432
MYOCOS	C5orf46	Q6UWT4	349
MYOCOS	ERRFI1	Q9UJM3	321
MYOCOS	S100A1	P23297	250
MYOCOS	IFITM3	Q01628	212
MYOCOS	DUSP23	Q9BVJ7	208
MYOCOS	CLEC14A	Q86T13	200
MYOCOS	GLUL	P15104	196
MYOCOS	RHCG	Q9UBD6	194
MYOCOS	GADD45A	P24522	182
MYOCOS	SOX4	Q06945	180
MYOCOS	REG1A	P05451	167
MYOCOS	IGFBP3	P17936	152

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUC4, A1STV0, A6NGY3, B8NI18, O54842, O84275, O89085, P03238, P03331, P05911, P11888, P26548, P26549, P27224, P56555, P87318, Q08270, Q08588, Q0P641, Q1KN10, Q1KN12, Q1KN16, Q1KN19, Q1KN23, Q1X6X9, Q1X6Y0, Q1X6Y1, Q1X6Y7, Q1X6Z0, Q1X6Z2, Q1X6Z3, Q1X700, Q1X711, Q2YDL7, Q5BL73, Q5RDL5, Q6AY31, Q6W0C5, Q84295, Q86W67

Diamond homologs: A0A1B0GUC4, Q3UWS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

149 predictions. Top by Δscore:

Variant	Effect	Δscore
1:171636720:C:CT	acceptor_gain	1.0000
1:171636721:A:T	acceptor_gain	1.0000
1:171638587:A:AC	donor_gain	1.0000
1:171638588:A:C	donor_gain	1.0000
1:171638595:A:AC	donor_gain	1.0000
1:171638596:C:CC	donor_gain	1.0000
1:171638718:AGAAA:A	acceptor_gain	1.0000
1:171638719:GAAA:G	acceptor_gain	1.0000
1:171638720:AAA:A	acceptor_gain	1.0000
1:171638721:AA:A	acceptor_gain	1.0000
1:171638722:ACTG:A	acceptor_loss	1.0000
1:171638723:C:CC	acceptor_gain	1.0000
1:171638723:CTGC:C	acceptor_loss	1.0000
1:171638724:T:C	acceptor_loss	1.0000
1:171638728:T:C	acceptor_gain	1.0000
1:171638728:T:TC	acceptor_gain	1.0000
1:171636709:CCTGG:C	acceptor_gain	0.9900
1:171638591:TCATA:T	donor_loss	0.9900
1:171638592:CATA:C	donor_loss	0.9900
1:171638593:AT:A	donor_loss	0.9900
1:171638594:TAC:T	donor_loss	0.9900
1:171638605:C:CA	donor_gain	0.9900
1:171638638:T:A	donor_gain	0.9900
1:171638726:C:CT	acceptor_gain	0.9900
1:171638727:A:C	acceptor_gain	0.9900
1:171638727:A:T	acceptor_gain	0.9900
1:171636706:CATC:C	acceptor_gain	0.9800
1:171636713:G:C	acceptor_gain	0.9800
1:171638727:A:AC	acceptor_gain	0.9800
1:171636708:TCCT:T	acceptor_loss	0.9700

AlphaMissense

522 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000079430 (1:171599505 G>A,C), RS1000126936 (1:171599679 A>C,G), RS1000153683 (1:171613859 C>G,T), RS1000167104 (1:171617314 A>T), RS1000198993 (1:171622283 T>C), RS1000257481 (1:171615823 G>A,C), RS1000316749 (1:171622899 A>T), RS1000372126 (1:171611359 G>A,T), RS1000425633 (1:171617760 C>G), RS1000451194 (1:171599204 C>T), RS1000581909 (1:171617453 GAA>G), RS1000741989 (1:171611710 G>A,T), RS1000790040 (1:171623632 C>G), RS1000863967 (1:171622117 T>C), RS1000871081 (1:171605010 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.