Mc2r MGI Mouse Gene Detail - MGI:96928 - melanocortin 2 receptor

Symbol

Mc2r
Name

melanocortin 2 receptor
Synonyms

Acthr, adrenocorticotropic hormone receptor

Feature Type

protein coding gene
IDs

MGI:96928
NCBI Gene: 17200
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr18:68539978-68562391 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 41.89 cM
Mapping Data

4 experiments

SNPs within 2kb

180 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96928	protein coding gene	Chr18:68539970-68562391 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024536	protein coding gene	Chr18:68756270-68773382 (-)
A/J	MGP_AJ_G0024503	protein coding gene	Chr18:65777203-65794417 (-)
AKR/J	MGP_AKRJ_G0024474	protein coding gene	Chr18:67684286-67701050 (-)
BALB/cJ	MGP_BALBcJ_G0024503	protein coding gene	Chr18:65931659-65948317 (-)
C3H/HeJ	MGP_C3HHeJ_G0024271	protein coding gene	Chr18:67830389-67845165 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024949	protein coding gene	Chr18:70566300-70583000 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022380	protein coding gene	Chr18:65139412-65152187 (-)
CAST/EiJ	MGP_CASTEiJ_G0023744	protein coding gene	Chr18:67883533-67900349 (-)
CBA/J	MGP_CBAJ_G0024240	protein coding gene	Chr18:72967970-72981600 (-)
DBA/2J	MGP_DBA2J_G0024370	protein coding gene	Chr18:65389893-65405360 (-)
FVB/NJ	MGP_FVBNJ_G0024336	protein coding gene	Chr18:64769673-64783695 (-)
LP/J	MGP_LPJ_G0024454	protein coding gene	Chr18:68633751-68647967 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024366	protein coding gene	Chr18:74245682-74263557 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024997	protein coding gene	Chr18:67869170-67887636 (-)
PWK/PhJ	MGP_PWKPhJ_G0023488	protein coding gene	Chr18:65732458-65748220 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023292	protein coding gene	Chr18:68022947-68051945 (-)
WSB/EiJ	MGP_WSBEiJ_G0023807	protein coding gene	Chr18:67769120-67784460 (-)

Human Ortholog

MC2R, melanocortin 2 receptor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MC2R, melanocortin 2 receptor
Synonyms

ACTHR
Links

HGNC:6930

NCBI Gene ID: 4158

neXtProt AC: NX_Q01718

UniProt: Q01718
Chr Location

18p11.21; chr18:13882042-13915707 (-) GRCh38.p7

Alliance of Genome Resources

Mc2r stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MC2R
Gene Tree

Mc2r

Diseases

2 with human MC2R associations

				Human Disease	Mouse Models
				glucocorticoid deficiency 1 IDs glucocorticoid deficiency 1 DOID:0080621 OMIM:202200
				West syndrome IDs West syndrome DOID:0050562 MESH:D013036 NCI:C84788 ORDO:3451

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

less

Phenotype Summary

24 phenotypes from 2 alleles in 2 genetic backgrounds
2 images
9 phenotype references

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

3
Endonuclease-mediated

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit postnatal lethality due to impaired gluconeogenesis.

less

All GO Annotations

12
GO References

4

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

809
Tissues

46
cDNA Data

16
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN mc2r

less

Mc2r interacts with 120 markers (Mir1b, Mir7-1, Mir23a, ...) View All

less

All Sequences

45
RefSeq

8
UniProt

2
CCDS

CCDS29328.1

Ensembl

ENSMUSG00000045569 (Evidence)
NCBI Gene

17200

			Length	Strain/Species	Flank
genomic	ENSMUSG00000045569	Ensembl Gene Model \| MGI Sequence Detail	22414	C57BL/6J	± kb
transcript	ENSMUST00000052347	Ensembl \| MGI Sequence Detail	1631	Not Applicable
polypeptide	ENSMUSP00000058691	Ensembl \| MGI Sequence Detail	296	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000001182 adrenocorticotropic hormone receptor

(term hierarchy)
InterPro Domains

IPR001168 Adrenocorticotrophin (ACTH) receptor

IPR017452 GPCR, rhodopsin-like, 7TM

IPR000276 G protein-coupled receptor, rhodopsin-like

IPR001671 Melanocortin/ACTH receptor

less

All nucleic 25

Genomic 4

cDNA 16

Primer pair 3

Other 2

Microarray probesets 4

less

MGD-MRK-12130

Summaries

All 67

Developmental Gene Expression 15

Gene Ontology 4

Phenotypes 9
Earliest

J:20041 Magenis RE, et al., Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mamm Genome. 1994 Aug;5(8):503-8
Latest

J:320691 Yadav VK, et al., Embryonic osteocalcin signaling determines lifelong adrenal steroidogenesis and homeostasis in the mouse. J Clin Invest. 2022 Feb 15;132(4):e153752

TSS for Mc2r:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr153814	Chr18:68562386-68562391 (-)	2 bp
Tssr153813	Chr18:68562351-68562364 (-)	33 bp
Tssr153812	Chr18:68562334-68562339 (-)	54 bp
Tssr153811	Chr18:68562306-68562329 (-)	73 bp
Tssr153810	Chr18:68560950-68560984 (-)	1,424 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Copyright, and Privacy Statement Send questions and comments to User Support.	last database update 01/24/2023 MGI 6.22