MYOC (myocilin)

2007-04-01  

Identity

HGNC
MYOC
LOCATION
1q24.3
LOCUSID
4653
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
345262972023CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.3
360699582023Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.5
368344932023COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.1
372170932023Myocilin misfolding and glaucoma: A 20-year update.2
372478152023Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.0
345262972023CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.3
360699582023Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.5
368344932023COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.1
372170932023Myocilin misfolding and glaucoma: A 20-year update.2
372478152023Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.0
350145832022Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.1
350145832022Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.1
323002152021The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma.8
334213562021Prevalence of MYOC risk variants for glaucoma in different populations.7
335393262021Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.28

Citation

Dessen P

MYOC (myocilin)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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