Myoc MGI Mouse Gene Detail - MGI:1202864 - myocilin

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Myoc Gene Detail

Symbol

Myoc
Name

myocilin
Synonyms

GLC1A, TIGR

Feature Type

protein coding gene
IDs

MGI:1202864
NCBI Gene: 17926
Alliance

gene page
Transcription Start Sites

1 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr1:162466724-162477262 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 70.29 cM
Mapping Data

4 experiments

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SNPs within 2kb

457 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_1202864	protein coding gene	Chr1:162466719-162477263 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016661	protein coding gene	Chr1:167981445-167991952 (+)
A/J	MGP_AJ_G0016642	protein coding gene	Chr1:161147679-161158256 (+)
AKR/J	MGP_AKRJ_G0016608	protein coding gene	Chr1:166031292-166041921 (+)
BALB/cJ	MGP_BALBcJ_G0016603	protein coding gene	Chr1:161675656-161686358 (+)
C3H/HeJ	MGP_C3HHeJ_G0016427	protein coding gene	Chr1:166236758-166247232 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017064	protein coding gene	Chr1:173641630-173652081 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014773	protein coding gene	Chr1:153198409-153209062 (+)
CAST/EiJ	MGP_CASTEiJ_G0016007	protein coding gene	Chr1:165888734-165899177 (+)
CBA/J	MGP_CBAJ_G0016402	protein coding gene	Chr1:179825673-179836147 (+)
DBA/2J	MGP_DBA2J_G0016508	protein coding gene	Chr1:160091373-160102163 (+)
FVB/NJ	MGP_FVBNJ_G0016506	protein coding gene	Chr1:158514519-158525001 (+)
LP/J	MGP_LPJ_G0016579	protein coding gene	Chr1:169110342-169122922 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016531	protein coding gene	Chr1:187329211-187345529 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017100	protein coding gene	Chr1:165864803-165875303 (+)
PWK/PhJ	MGP_PWKPhJ_G0015793	protein coding gene	Chr1:159271772-159282361 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015580	protein coding gene	Chr1:164747550-164758084 (+)
WSB/EiJ	MGP_WSBEiJ_G0016069	protein coding gene	Chr1:166044540-166055917 (+)

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Human Ortholog

MYOC, myocilin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYOC, myocilin
Synonyms

GLC1A, GPOA, JOAG, JOAG1, TIGR
Links

HGNC:7610

NCBI Gene ID: 4653

neXtProt AC: NX_Q99972

UniProt: Q99972
Chr Location

1q24.3; chr1:171635417-171652688 (-) GRCh38

MGI Vertebrate Homology

Myoc stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MYOC
Gene Tree

Myoc

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Diseases

1 with Myoc mouse models; 5 with human MYOC associations

Human Disease

Mouse Models

Human and Mouse genes associated with disease

Human and Mouse genes associated with disease

open-angle glaucoma

IDs

View 1 model

Human gene associated with disease

juvenile glaucoma

IDs

low tension glaucoma

IDs

ocular hypertension

IDs

primary open angle glaucoma

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

12 phenotypes from 4 alleles in 6 genetic backgrounds
15 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

2
Endonuclease-mediated

2
Targeted

6
Transgenic

2
Genomic Mutations

2 involving Myoc
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice are viable and fertile and display no ocular abnormalities at the light and ultrastructural microscopic levels.

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All GO Annotations

78
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

747
Tissues

27
cDNA Data

9
Literature Summary

5

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase myoc

ZFIN myoc

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All Sequences

38
RefSeq

2
UniProt

3
CCDS

CCDS15422.1

Ensembl

ENSMUSG00000026697 (Evidence)
NCBI Gene

17926

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000026697	Ensembl Gene Model \| MGI Sequence Detail	10539	C57BL/6J	± kb
	transcript	ENSMUST00000028020	Ensembl \| MGI Sequence Detail	2074	Not Applicable
	polypeptide	ENSMUSP00000028020	Ensembl \| MGI Sequence Detail	490	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000010873 myocilin

(term hierarchy)
PDB

5VR2, 6NAX
InterPro Domains

IPR003112 Olfactomedin-like domain

IPR050605 Olfactomedin-like domain-containing protein
GlyGen

O70624 1 site

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All nucleic 18

Genomic 7

cDNA 9

Primer pair 2

Microarray probesets 5

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MGI:2138376

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Summaries

All 68

Developmental Gene Expression 5

Diseases 1

Gene Ontology 14

Phenotypes 15
Earliest

J:47508 Ortego J, et al., Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett. 1997 Aug 18;413(2):349-53
Latest

J:288776 Judge SM, et al., MEF2c-Dependent Downregulation of Myocilin Mediates Cancer-Induced Muscle Wasting and Associates with Cachexia in Patients with Cancer. Cancer Res. 2020 May 1;80(9):1861-1874

TSS for Myoc:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9721	Chr1:162466717-162466727 (+)	-2 bp

Myoc is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Actre1	Chr1, 81.08 cM		J:98587	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to 6 previously identified alcohol-related QTLs to identify potential candidate genes. Two different Affymetrix microarrays were used in the analysis. Brain expression data from parental strains and 56 (DBA/2J x C57BL/6J)F2 intercross animals were used for analysis. On mouse Chromosome 1, several candidate genes were identified for Alcw1 at 95.8 cM, Alcdp1 (95.8 cM), and Actre1 (85 cM). The highest priority candidate genes identified for chromosome 1 ethanol-related QTLs are Myoc (83.6 cM), Pou2f1 (87.2 cM), Mgst3, Aldh9a1, Sdhc, Kcnj9 (94.2 cM), Darc (94 cM), and Srp9. Other candidate genes with a ranking of modest priority were identified but are not listed here.
Alcdp1	Chr1, 80.33 cM		J:98587	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to 6 previously identified alcohol-related QTLs to identify potential candidate genes. Two different Affymetrix microarrays were used in the analysis. Brain expression data from parental strains and 56 (DBA/2J x C57BL/6J)F2 intercross animals were used for analysis. On mouse Chromosome 1, several candidate genes were identified for Alcw1 at 95.8 cM, Alcdp1 (95.8 cM), and Actre1 (85 cM). The highest priority candidate genes identified for chromosome 1 ethanol-related QTLs are Myoc (83.6 cM), Pou2f1 (87.2 cM), Mgst3, Aldh9a1, Sdhc, Kcnj9 (94.2 cM), Darc (94 cM), and Srp9. Other candidate genes with a ranking of modest priority were identified but are not listed here.
Alcw1	Chr1, 80.33 cM	Chr1:170868354-171966357	J:98587	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to 6 previously identified alcohol-related QTLs to identify potential candidate genes. Two different Affymetrix microarrays were used in the analysis. Brain expression data from parental strains and 56 (DBA/2J x C57BL/6J)F2 intercross animals were used for analysis. On mouse Chromosome 1, several candidate genes were identified for Alcw1 at 95.8 cM, Alcdp1 (95.8 cM), and Actre1 (85 cM). The highest priority candidate genes identified for chromosome 1 ethanol-related QTLs are Myoc (83.6 cM), Pou2f1 (87.2 cM), Mgst3, Aldh9a1, Sdhc, Kcnj9 (94.2 cM), Darc (94 cM), and Srp9. Other candidate genes with a ranking of modest priority were identified but are not listed here.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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