Gene
MRAP
melanocortin 2 receptor accessory protein
- HGNC 1304↗(opens in a new tab)
- Ensembl gene ENSG00000170262↗(opens in a new tab)
- NCBI Gene 56246↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.11
- Coordinates
- Chromosome 21: 32,298,855–32,312,290 (GRCh38)
- Exons
- 3 exons across 13.4 kb
- Protein
- 172 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- B27, FALP, MRAP1
- Previous symbols
- C21orf61
- MANE Select transcript
- ENST00000303645.10NM_001379228.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Familial Glucocorticoid Deficiency
- Autosomal recessive
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How MRAP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.9 kb of the gene's 13.4 kb; 519 of those bases code for the protein.
How a genome test reads MRAP
3
positions in MRAP where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 13.4 kb of MRAP, introns included, not only the 0.9 kb of exons.
Genes linked to the same conditions
Traits linked to MRAP
The Human Phenotype Ontology lists these as features of the rare conditions MRAP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Brain degeneration
- Focal motor seizure
- IQ less than 20
- Jerking
- Myoclonic seizure
- Severe global developmental delay
- Thin corpus callosum
- Coma caused by low blood sugar
Show 2 more traits
Abnormality of the endocrine system
- Adrenal insufficiency
- Increased circulating ACTH level
- Low blood cortisol level
- Abnormal circulating adrenocorticotropin concentration
- Decreased circulating dehydroepiandrosterone concentration
- Impaired cortisol response to insulin stimulation test
- Early onset of puberty
- Low blood aldosterone level
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MRAP gene: melanocortin 2 receptor accessory protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/mrap
Dante Labs. MRAP gene: melanocortin 2 receptor accessory protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mrap
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