KEGG   Homo sapiens (human): 56246
Entry
56246             CDS       T01001                                 

Gene name
MRAP, B27, C21orf61, FALP, FGD2, GCCD2
Definition
(RefSeq) melanocortin 2 receptor accessory protein
  KO
K22398  melanocortin 2 receptor accessory protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing syndrome
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00297  ACTH-cortisol signaling pathway
N00298  CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
N00299  Mutation-inactivated MC2R to ACTH-cortisol signaling pathway
N00300  Mutation-inactivated MRAP to ACTH-cortisol signaling pathway
Disease
H00256  Familial glucocorticoid deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04927 Cortisol synthesis and secretion
    56246 (MRAP)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    56246 (MRAP)
SSDB
Motif
Pfam: MRAP
Other DBs
NCBI-GeneID: 56246
NCBI-ProteinID: NP_848932
OMIM: 609196
HGNC: 1304
Ensembl: ENSG00000170262
Vega: OTTHUMG00000085309
Pharos: Q8TCY5(Tbio)
UniProt: Q8TCY5
LinkDB
Position
21q22.11
AA seq 172 aa
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYM
SWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPD
QPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS
NT seq 519 nt   +upstreamnt  +downstreamnt
atggccaacgggaccaacgcctctgccccatactacagctatgaatactacctggactat
ctggacctcattcccgtggacgagaagaagctgaaagcccacaaacattccatcgtgatc
gcattctgggtgagcctggctgccttcgtggtgctgctcttcctcatcttgctctacatg
tcctggtccgcctccccgcagatgaggaacagccccaagcaccaccaaacatgcccctgg
agtcacggcctcaacctccacctctgcatccagaagtgcctgccgtgccacagggaaccc
ctggcaacctcacaggctcaggcgagctcagtggagccagggagcagaactggccctgac
cagccgctacgacaggagagctcctccaccttgcccctcgggggtttccagacccacccc
actctcctctgggaactgaccctcaatgggggtcccctcgtcaggagcaagcccagcgag
cctccccctggagacaggacctctcaattgcagagctga

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