KEGG   Homo sapiens (human): 4158Help
Entry
4158              CDS       T01001                                 

Gene name
MC2R, ACTHR
Definition
(RefSeq) melanocortin 2 receptor
  KO
K04200  melanocortin 2 receptor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04024  cAMP signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing syndrome
Network
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
H00033  Adrenal carcinoma
H00256  Familial glucocorticoid deficiency
H01431  Cushing syndrome
H02049  Bilateral macronodular adrenal hyperplasia
Drug target
Alsactide: D07417
Corticotropin (DG00492): D00146 D03593 D06544
Giractide (DG01344): D09801 D09937
Seractide acetate: D05827
Tetracosactide (DG00493): D00284 D02105
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    4158 (MC2R)
  09133 Signaling molecules and interaction
   04080 Neuroactive ligand-receptor interaction
    4158 (MC2R)
 09150 Organismal Systems
  09152 Endocrine system
   04925 Aldosterone synthesis and secretion
    4158 (MC2R)
   04927 Cortisol synthesis and secretion
    4158 (MC2R)
 09160 Human Diseases
  09167 Endocrine and metabolic diseases
   04934 Cushing syndrome
    4158 (MC2R)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04030 G protein-coupled receptors [BR:hsa04030]
    4158 (MC2R)
G protein-coupled receptors [BR:hsa04030]
 Rhodopsin family
  Peptide
   Melanocortin
    4158 (MC2R)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 7tm_1 7TM_GPCR_Srsx 7TM_GPCR_Srx 7tm_4
Motif
Other DBs
NCBI-GeneID: 4158
NCBI-ProteinID: NP_000520
OMIM: 607397
HGNC: 6930
Ensembl: ENSG00000185231
Vega: OTTHUMG00000131721
Pharos: Q01718(Tclin)
UniProt: Q01718
Position
18p11.21
AA seq 297 aa AA seqDB search
MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLIVLLAVFKNKNLQAPMY
FFICSLAISDMLGSLYKILENILIILRNMGYLKPRGSFETTADDIIDSLFVLSLLGSIFS
LSVIAADRYITIFHALRYHSIVTMRRTVVVLTVIWTFCTGTGITMVIFSHHVPTVITFTS
LFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGAITLTILLGVFIFCWAPFVLHVL
LMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIYAFRSPELRDAFKKMIFCSRYW
NT seq 894 nt NT seq  +upstreamnt  +downstreamnt
atgaagcacattatcaactcgtatgaaaacatcaacaacacagcaagaaataattccgac
tgtcctcgtgtggttttgccggaggagatatttttcacaatttccattgttggagttttg
gagaatctgatcgtcctgctggctgtgttcaagaataagaatctccaggcacccatgtac
tttttcatctgtagcttggccatatctgatatgctgggcagcctatataagatcttggaa
aatatcctgatcatattgagaaacatgggctatctcaagccacgtggcagttttgaaacc
acagccgatgacatcatcgactccctgtttgtcctctccctgcttggctccatcttcagc
ctgtctgtgattgctgcggaccgctacatcaccatcttccacgcactgcggtaccacagc
atcgtgaccatgcgccgcactgtggtggtgcttacggtcatctggacgttctgcacgggg
actggcatcaccatggtgatcttctcccatcatgtgcccacagtgatcaccttcacgtcg
ctgttcccgctgatgctggtcttcatcctgtgcctctatgtgcacatgttcctgctggct
cgatcccacaccaggaagatctccaccctccccagagccaacatgaaaggggccatcaca
ctgaccatcctgctcggggtcttcatcttctgctgggccccctttgtgcttcatgtcctc
ttgatgacattctgcccaagtaacccctactgcgcctgctacatgtctctcttccaggtg
aacggcatgttgatcatgtgcaatgccgtcattgaccccttcatatatgccttccggagc
ccagagctcagggacgcattcaaaaagatgatcttctgcagcaggtactggtag

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