MRAP2

Chr 6

melanocortin 2 receptor accessory protein 2

Also known as: C6orf117, bA51G5.2

This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtObesity
4
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -0.67
OE 1.27 (0.751.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.92 (0.781.08)
99 obs / 108.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.27 (0.751.88)
00.351.4
Missense OE?0.92 (0.781.08)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 9 / 7.1Missense obs/exp: 99 / 108.0Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRAP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.