GeneBe

MRAP2

melanocortin 2 receptor accessory protein 2

Basic information

Region (hg38): 6:84033772-84090881

Previous symbols: [ "C6orf117" ]

Links

ENSG00000135324 ∙ NCBI:112609 ∙ OMIM:615410 ∙ HGNC:21232 ∙ Uniprot:Q96G30 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Obesity, susceptibility to, 18ADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingEndocrine23869016

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRAP2 gene.

  • MRAP2-related_disorder (71 variants)
  • not_provided (22 variants)
  • not_specified (15 variants)
  • Body_mass_index_quantitative_trait_locus_18 (2 variants)
  • Inherited_obesity (2 variants)
  • Hypoplasia_of_anterior_or_entire_pituitary_gland_(frequent) (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRAP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138409.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
14
clinvar
 14
missense
48
clinvar
2
clinvar
 50
nonsense
3
clinvar
 3
start loss
0
frameshift
4
clinvar
 4
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 56 16 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MRAP2protein_codingprotein_codingENST00000257776 357126
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.56e-70.09061257170301257470.000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.309991080.9160.000005201355
Missense in Polyphen3836.7231.0348490
Synonymous-0.2494442.01.050.00000221389
Loss of Function-0.67097.081.272.95e-796

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004900.000490
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00005430.0000527
Middle Eastern0.00005440.0000544
South Asian0.0001980.000196
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo. {ECO:0000250, ECO:0000269|PubMed:19329486, ECO:0000269|PubMed:20371771}.;
Disease
DISEASE: Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:23869016}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.352
rvis_EVS
-0.23
rvis_percentile_EVS
36.86

Haploinsufficiency Scores

pHI
0.184
hipred
N
hipred_score
0.334
ghis
0.546

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.261

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mrap2
Phenotype
homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; skeleton phenotype; immune system phenotype; digestive/alimentary phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype;

Zebrafish Information Network

Gene name
mrap2a
Affected structure
whole organism
Phenotype tag
abnormal
Phenotype quality
decreased length

Gene ontology

Biological process
energy reserve metabolic process;feeding behavior;regulation of signaling receptor activity;protein localization to plasma membrane;energy homeostasis;positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway;negative regulation of protein localization to plasma membrane
Cellular component
endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;integral component of membrane
Molecular function
protein binding;receptor regulator activity;corticotropin hormone receptor binding;type 3 melanocortin receptor binding;type 4 melanocortin receptor binding;type 5 melanocortin receptor binding;identical protein binding;type 1 melanocortin receptor binding