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Myoc Gene Detail
Summary
  • 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
Location &
Maps
more
  • 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
Strain
Comparison
more
  • 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 (+)



Homology
more
  • 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
    NCBI Gene ID: 4653
    neXtProt AC: NX_Q99972
    UniProt: Q99972

  • Chr Location
    1q24.3; chr1:171635417-171652688 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Myoc mouse models; 5 with human MYOC associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 4 alleles in 6 genetic backgrounds
    15 phenotype references
Phenotype Overview

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.
Homozygous null mice are viable and fertile and display no ocular abnormalities at the light and ultrastructural microscopic levels.
Gene Ontology
(GO)
Classifications
less
  • 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.
Expression
less
Expression Overview

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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 7
      cDNA 9
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138376
    References
    more
    • 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
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory