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Mc4r Gene Detail
Summary
  • Symbol
    Mc4r
  • Name
    melanocortin 4 receptor
  • Synonyms
    Fatboy, Pkcp
  • Feature Type
    protein coding gene
  • IDs
    MGI:99457
    NCBI Gene: 17202
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:66990776-66993558 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 39.72 cM, cytoband E1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99457
 protein coding gene Chr18:66990775-66993577 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024518
 protein coding gene Chr18:67096813-67099574 (-)
A/J MGP_AJ_G0024485
 protein coding gene Chr18:64162233-64164974 (-)
AKR/J MGP_AKRJ_G0024455
 protein coding gene Chr18:66015275-66018032 (-)
BALB/cJ MGP_BALBcJ_G0024484
 protein coding gene Chr18:64324405-64327146 (-)
C3H/HeJ MGP_C3HHeJ_G0024252
 protein coding gene Chr18:66212536-66215297 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024931
 protein coding gene Chr18:68885569-68888326 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022362
 protein coding gene Chr18:63569248-63571990 (-)
CAST/EiJ MGP_CASTEiJ_G0023725
 protein coding gene Chr18:66195501-66198259 (-)
CBA/J MGP_CBAJ_G0024222
 protein coding gene Chr18:71223258-71226019 (-)
DBA/2J MGP_DBA2J_G0024352
 protein coding gene Chr18:63833007-63835768 (-)
FVB/NJ MGP_FVBNJ_G0024318
 protein coding gene Chr18:63200952-63203709 (-)
LP/J MGP_LPJ_G0024436
 protein coding gene Chr18:66946030-66948791 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024347
 protein coding gene Chr18:72524927-72527684 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024978
 protein coding gene Chr18:66220067-66222808 (-)
PWK/PhJ MGP_PWKPhJ_G0023468
 protein coding gene Chr18:64109793-64112551 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023273
 protein coding gene Chr18:66395115-66397845 (-)
WSB/EiJ MGP_WSBEiJ_G0023789
 protein coding gene Chr18:66101149-66103890 (-)



Homology
more
  • Human Ortholog
    MC4R, melanocortin 4 receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MC4R, melanocortin 4 receptor
  • Synonyms
    BMIQ20
  • Links
    NCBI Gene ID: 4160
    neXtProt AC: NX_P32245
    UniProt: P32245

  • Chr Location
    18q21.32; chr18:60371062-60372775 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Mc4r mouse models; 2 with human MC4R associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 19 alleles in 30 genetic backgrounds
    9 phenotypes from multigenic genotypes
    2 images
    201 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
less
  • All GO Annotations
    41
  • GO References
    12
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
    840
  • Tissues
    109
  • cDNA Data
    7
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17202 NCBI Gene Model | MGI Sequence Detail 2783 C57BL/6J ±  kb
    transcript NM_016977 RefSeq | MGI Sequence Detail 2783 Not Specified  
    polypeptide P56450 UniProt | EBI | MGI Sequence Detail 332 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      Genomic 1
      cDNA 7
      Primer pair 3
      Other 1

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-16226, MGI:2671593, MGI:3603633
    References
    more
    • Summaries
      All 281
      Developmental Gene Expression 18
      Diseases 4
      Gene Ontology 12
      Phenotypes 201
    • 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:354335 Wei W, et al., PTER is a N-acetyltaurine hydrolase that regulates feeding and obesity. Nature. 2024 Sep;633(8028):182-188
    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