Tissue expression of MC2R - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	MC2R
Gene description	Melanocortin 2 receptor (adrenocorticotropic hormone)
Protein class	Disease related genes FDA approved drug targets G-protein coupled receptors Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (adrenal gland)
GTEx:	Tissue enriched (adrenal gland)
FANTOM5:	Tissue enriched (pituitary gland)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (adrenal gland)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (adrenal gland)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (pituitary gland)

GENE INFORMATION
Gene name	MC2R (HGNC Symbol)
Synonyms	ACTHR
Description	Melanocortin 2 receptor (adrenocorticotropic hormone) (HGNC Symbol)
Entrez gene summary	MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
Chromosome	18
Cytoband	p11.21
Chromosome location (bp)	13882044 - 13915707
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185231 (version 83.38)
Entrez gene	4158
UniProt	Q01718 (UniProt - Evidence at protein level)
neXtProt	NX_Q01718
Antibodypedia	MC2R antibodies

PROTEIN BROWSER

MC2R-001	MC2R-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MC2R-001 ENSP00000333821 ENST00000327606	Q01718 [Direct mapping] Adrenocorticotropic hormone receptor Show all	Transporters G-protein coupled receptors GPCRs excl olfactory receptors Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins GPCRHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Disease related genes FDA approved drug targets Biotech drugs Protein evidence (Kim et al 2014) Show all	GO:0001890 [placenta development] GO:0004930 [G-protein coupled receptor activity] GO:0004977 [melanocortin receptor activity] GO:0004978 [corticotropin receptor activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0007187 [G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger] GO:0007218 [neuropeptide signaling pathway] GO:0016021 [integral component of membrane] GO:0030819 [positive regulation of cAMP biosynthetic process] Show all	297 aa 33.9 kDa	No	7
MC2R-002 ENSP00000382718 ENST00000399821	R4GMM0 [Direct mapping] Adrenocorticotropic hormone receptor Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Show all	GO:0004930 [G-protein coupled receptor activity] GO:0004978 [corticotropin receptor activity] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0007218 [neuropeptide signaling pathway] GO:0016021 [integral component of membrane] Show all	123 aa 13.8 kDa	No	3