MCHR2

protein-coding

melanin concentrating hormone receptor 2, the group of Melanin concentrating hormone receptors

Gene summary

Predicted to enable galanin receptor activity. Predicted to be involved in neuropeptide signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GPR145

MANE transcript

NM_001040179.2

Inheritance

—

ClinVar variants

U:43B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr6:99,918,519-99,994,247

External References & Databases

Ensembl (ENSG00000152034)

Transcript & Mutation Effects

hg38 • Region Span ~75.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MCHR2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001040179.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar	2 clinvar	4
missense			42 clinvar			42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	1	2	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001040179.2	RefSeq	NP_001035269.1	5	MANE Select
ENST00000281806.7	Ensembl	ENSP00000281806.2	5	MANE Select
NM_032503.3	RefSeq	NP_115892.2	5	Standard
ENST00000369212.2	Ensembl	ENSP00000358214.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Other
Signaling by GPCR
Signal Transduction
Peptide ligand-binding receptors

Biological Process

G protein-coupled receptor signaling pathway
neuropeptide signaling pathway

Molecular Function

G protein-coupled peptide receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000281806
Coding exons: 5
Length: 74338
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125747
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.512	161	180	0.893	0.00000874	2226
Missense (PolyPhen)		43	59.459	0.72319		805
Synonymous	-0.325	71	67.6	1.05	0.00000346	662
Loss of Function	1.02	10	14.2	0.707	7.52e-7	160

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00025	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.00013	0.00013	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis.;

Recessive Scores

pRec: 0.170

Intolerance Scores

LoFtool: 0.940
RVIS EVS: -0.27
RVIS percentile EVS: 34.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.120

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium