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Mc4r Gene Detail
Summary
  • Symbol
    Mc4r
  • Name
    melanocortin 4 receptor
  • Synonyms
    Fatboy
  • Feature Type
    protein coding gene
  • IDs
    MGI:99457
    NCBI Gene: 17202
  • Gene Overview
    MyGene.info: MC4R
Location & Maps
more
  • Sequence Map
    Chr18:66857715-66860472 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2758 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 39.72 cM, cytoband E1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MC4R, melanocortin 4 receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MC4R, melanocortin 4 receptor
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 4160
    neXtProt AC: NX_P32245
    UniProt: P32245

  • Chr Location
    18q21.32; chr18:60371331-60372768 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Mc4r mouse models; 1 with human MC4R associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 13 alleles in 24 genetic backgrounds
    7 phenotypes from multigenic genotypes
    2 images
    101 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.
Mutations in this gene result in hyperglycemia and weight gain.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000047259 Ensembl Gene Model | MGI Sequence Detail 2758 C57BL/6J ±  kb
transcript ENSMUST00000057942 Ensembl | MGI Sequence Detail 2758 Not Applicable  
polypeptide ENSMUSP00000054776 Ensembl | MGI Sequence Detail 332 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    49 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    Genomic 1
    cDNA 5
    Primer pair 1

    Microarray probesets 1
Other
Accession IDs
less
MGD-MRK-16226, MGI:2671593
References
more
  • Summaries
    All 147
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 9
    Phenotypes 101
  • Earliest
    J:12905 Gantz I, et al., Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J Biol Chem. 1993 Jul 15;268(20):15174-9
  • Latest
    J:238802 Samuelsson AS, et al., Central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity. Proc Natl Acad Sci U S A. 2016 Oct 25;113(43):12298-12303

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/11/2017
MGI 6.08
The Jackson Laboratory