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Myof Gene Detail
Summary
  • Symbol
    Myof
  • Name
    myoferlin
  • Synonyms
    2310051D19Rik, E030042N20Rik, Fer1l3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919192
    NCBI Gene: 226101
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:37887484-38032025 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 32.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4695 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919192
 protein coding gene Chr19:37887484-38032025 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025085
 protein coding gene Chr19:36903236-37056691 (-)
A/J MGP_AJ_G0025061
 protein coding gene Chr19:35115798-35261453 (-)
AKR/J MGP_AKRJ_G0025029
 protein coding gene Chr19:36313171-36463200 (-)
BALB/cJ MGP_BALBcJ_G0025059
 protein coding gene Chr19:35203932-35369744 (-)
C3H/HeJ MGP_C3HHeJ_G0024818
 protein coding gene Chr19:36380356-36532473 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025500
 protein coding gene Chr19:37972458-38123470 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022919
 protein coding gene Chr19:34471632-34619005 (-)
CAST/EiJ MGP_CASTEiJ_G0024285
 protein coding gene Chr19:36246451-36398220 (-)
CBA/J MGP_CBAJ_G0024795
 protein coding gene Chr19:39738204-39904048 (-)
DBA/2J MGP_DBA2J_G0024927
 protein coding gene Chr19:34970415-35114592 (-)
FVB/NJ MGP_FVBNJ_G0024888
 protein coding gene Chr19:34778897-34922591 (-)
LP/J MGP_LPJ_G0025013
 protein coding gene Chr19:37002645-37155576 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024919
 protein coding gene Chr19:39531493-39683011 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025558
 protein coding gene Chr19:36403228-36556543 (-)
PWK/PhJ MGP_PWKPhJ_G0024037
 protein coding gene Chr19:34829420-34979071 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023837
 protein coding gene Chr19:35244089-35395360 (-)
WSB/EiJ MGP_WSBEiJ_G0024352
 protein coding gene Chr19:36493501-36640099 (-)



Homology
more
  • Human Ortholog
    MYOF, myoferlin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYOF, myoferlin
  • Synonyms
    FER1L3, HAE7
  • Links
    NCBI Gene ID: 26509
    neXtProt AC: NX_Q9NZM1
    UniProt: Q9NZM1

  • Chr Location
    10q23.33; chr10:93306429-93482334 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MYOF associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    14 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.
Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    7
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
    741
  • Tissues
    10
  • cDNA Data
    107
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 226101 NCBI Gene Model | MGI Sequence Detail 144542 C57BL/6J ±  kb
    transcript NM_001302140 RefSeq | MGI Sequence Detail 7133 C57BL/6  
    polypeptide Q69ZN7 UniProt | EBI | MGI Sequence Detail 2048 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 109
      cDNA 108
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2442992
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 4
      Gene Ontology 7
      Phenotypes 14
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory