LOCUS       NM_000529               3652 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens melanocortin 2 receptor (MC2R), mRNA.
ACCESSION   NM_000529
VERSION     NM_000529.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3652)
  AUTHORS   Gao,J., Liu,X., Cui,Y., Cao,B., Chen,Y., Wei,H. and Yang,H.
  TITLE     [Clinical characteristics and genetic analysis of two children with
            Familial glucocorticoid deficiency type 1 due to variants of MC2R
            gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (12), 1526-1530 (2023)
   PUBMED   37994136
  REMARK    GeneRIF: [Clinical characteristics and genetic analysis of two
            children with Familial glucocorticoid deficiency type 1 due to
            variants of MC2R gene].
REFERENCE   2  (bases 1 to 3652)
  AUTHORS   Liu,S., Zeng,T., Luo,C., Peng,D., Xu,X., Liu,Q., Wu,Q., Lu,Q. and
            Huang,F.
  TITLE     A rare homozygous variant of MC2R gene identified in a Chinese
            family with familial glucocorticoid deficiency type 1: A case
            report
  JOURNAL   Front Endocrinol (Lausanne) 14, 1113234 (2023)
   PUBMED   36909322
  REMARK    GeneRIF: A rare homozygous variant of MC2R gene identified in a
            Chinese family with familial glucocorticoid deficiency type 1: A
            case report.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3652)
  AUTHORS   Luo,P., Feng,W., Ma,S., Dai,A., Wu,K., Chen,X., Yuan,Q., Cai,X.,
            Yang,D., Wang,M.W., Eric Xu,H. and Jiang,Y.
  TITLE     Structural basis of signaling regulation of the human
            melanocortin-2 receptor by MRAP1
  JOURNAL   Cell Res 33 (1), 46-54 (2023)
   PUBMED   36588120
  REMARK    GeneRIF: Structural basis of signaling regulation of the human
            melanocortin-2 receptor by MRAP1.
REFERENCE   4  (bases 1 to 3652)
  AUTHORS   Davis,P.V., Shaughnessy,C.A. and Dores,R.M.
  TITLE     Human Melanocortin-2 Receptor: Identifying a Role for Residues in
            the TM4, EC2, and TM5 Domains in Activation and Trafficking as a
            Result of Co-Expression with the Accessory Protein, Mrap1 in
            Chinese Hamster Ovary Cells
  JOURNAL   Biomolecules 12 (10), 1422 (2022)
   PUBMED   36291631
  REMARK    GeneRIF: Human Melanocortin-2 Receptor: Identifying a Role for
            Residues in the TM4, EC2, and TM5 Domains in Activation and
            Trafficking as a Result of Co-Expression with the Accessory
            Protein, Mrap1 in Chinese Hamster Ovary Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3652)
  AUTHORS   Tang,L., Xiang,Q., Xiang,J., Li,J. and Chen,D.
  TITLE     A variant in the 3'-untranslated region of the MC2R gene decreases
            the risk of schizophrenia in a female Han Chinese population
  JOURNAL   J Int Med Res 49 (7), 3000605211029504 (2021)
   PUBMED   34266338
  REMARK    GeneRIF: A variant in the 3'-untranslated region of the MC2R gene
            decreases the risk of schizophrenia in a female Han Chinese
            population.
REFERENCE   6  (bases 1 to 3652)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~37%.
REFERENCE   7  (bases 1 to 3652)
  AUTHORS   Tsigos,C., Arai,K., Hung,W. and Chrousos,G.P.
  TITLE     Hereditary isolated glucocorticoid deficiency is associated with
            abnormalities of the adrenocorticotropin receptor gene
  JOURNAL   J Clin Invest 92 (5), 2458-2461 (1993)
   PUBMED   8227361
REFERENCE   8  (bases 1 to 3652)
  AUTHORS   Gantz,I., Tashiro,T., Barcroft,C., Konda,Y., Shimoto,Y., Miwa,H.,
            Glover,T., Munzert,G. and Yamada,T.
  TITLE     Localization of the genes encoding the melanocortin-2
            (adrenocorticotropic hormone) and melanocortin-3 receptors to
            chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ
            hybridization
  JOURNAL   Genomics 18 (1), 166-167 (1993)
   PUBMED   8276410
REFERENCE   9  (bases 1 to 3652)
  AUTHORS   Clark,A.J., McLoughlin,L. and Grossman,A.
  TITLE     Familial glucocorticoid deficiency associated with point mutation
            in the adrenocorticotropin receptor
  JOURNAL   Lancet 341 (8843), 461-462 (1993)
   PUBMED   8094489
REFERENCE   10 (bases 1 to 3652)
  AUTHORS   Mountjoy,K.G., Robbins,L.S., Mortrud,M.T. and Cone,R.D.
  TITLE     The cloning of a family of genes that encode the melanocortin
            receptors
  JOURNAL   Science 257 (5074), 1248-1251 (1992)
   PUBMED   1325670
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC094710.1 and AP001086.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 19, 2005 this sequence version replaced NM_000529.1.
            
            Summary: MC2R encodes one member of the five-member G-protein
            associated melanocortin receptor family. Melanocortins
            (melanocyte-stimulating hormones and adrenocorticotropic hormone)
            are peptides derived from pro-opiomelanocortin (POMC). MC2R is
            selectively activated by adrenocorticotropic hormone, whereas the
            other four melanocortin receptors recognize a variety of
            melanocortin ligands. Mutations in MC2R can result in familial
            glucocorticoid deficiency. Alternate transcript variants have been
            found for this gene. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) and variant 2 encode the same
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094710.1, AK289381.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327606.4/ ENSP00000333821.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1128              BC094710.1         1-1128
            1129-3652           AP001086.7         59701-62224         c
FEATURES             Location/Qualifiers
     source          1..3652
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..3652
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="melanocortin 2 receptor"
                     /db_xref="GeneID:4158"
                     /db_xref="HGNC:HGNC:6930"
                     /db_xref="MIM:607397"
     exon            1..49
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /inference="alignment:Splign:2.1.0"
     exon            50..3652
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1071
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
                     /note="corticotropin receptor; MC2 receptor; ACTH
                     receptor; adrenocorticotropin receptor; melanocortin 2
                     receptor (adrenocorticotropic hormone)"
                     /codon_start=1
                     /product="adrenocorticotropic hormone receptor"
                     /protein_id="NP_000520.1"
                     /db_xref="CCDS:CCDS11869.1"
                     /db_xref="GeneID:4158"
                     /db_xref="HGNC:HGNC:6930"
                     /db_xref="MIM:607397"
                     /translation="MKHIINSYENINNTARNNSDCPRVVLPEEIFFTISIVGVLENLI
                     VLLAVFKNKNLQAPMYFFICSLAISDMLGSLYKILENILIILRNMGYLKPRGSFETTA
                     DDIIDSLFVLSLLGSIFSLSVIAADRYITIFHALRYHSIVTMRRTVVVLTVIWTFCTG
                     TGITMVIFSHHVPTVITFTSLFPLMLVFILCLYVHMFLLARSHTRKISTLPRANMKGA
                     ITLTILLGVFIFCWAPFVLHVLLMTFCPSNPYCACYMSLFQVNGMLIMCNAVIDPFIY
                     AFRSPELRDAFKKMIFCSRYW"
     regulatory      2958..2963
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     polyA_site      2975
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     regulatory      3634..3639
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
     polyA_site      3652
                     /gene="MC2R"
                     /gene_synonym="ACTHR"
ORIGIN      
        1 attccttctc attcattttg cccagaaagt tcctgcttca gagctgaagg tgattgggag
       61 attttaactt agatctccag caagtgctac aaggaagaaa agatcctgaa gaatcaatca
      121 agttttccgt gaagtcaagt ccaagtaaca tccccgcctt aaccacaagc aggagaaatg
      181 aagcacatta tcaactcgta tgaaaacatc aacaacacag caagaaataa ttccgactgt
      241 cctcgtgtgg ttttgccgga ggagatattt ttcacaattt ccattgttgg agttttggag
      301 aatctgatcg tcctgctggc tgtgttcaag aataagaatc tccaggcacc catgtacttt
      361 ttcatctgta gcttggccat atctgatatg ctgggcagcc tatataagat cttggaaaat
      421 atcctgatca tattgagaaa catgggctat ctcaagccac gtggcagttt tgaaaccaca
      481 gccgatgaca tcatcgactc cctgtttgtc ctctccctgc ttggctccat cttcagcctg
      541 tctgtgattg ctgcggaccg ctacatcacc atcttccacg cactgcggta ccacagcatc
      601 gtgaccatgc gccgcactgt ggtggtgctt acggtcatct ggacgttctg cacggggact
      661 ggcatcacca tggtgatctt ctcccatcat gtgcccacag tgatcacctt cacgtcgctg
      721 ttcccgctga tgctggtctt catcctgtgc ctctatgtgc acatgttcct gctggctcga
      781 tcccacacca ggaagatctc caccctcccc agagccaaca tgaaaggggc catcacactg
      841 accatcctgc tcggggtctt catcttctgc tgggccccct ttgtgcttca tgtcctcttg
      901 atgacattct gcccaagtaa cccctactgc gcctgctaca tgtctctctt ccaggtgaac
      961 ggcatgttga tcatgtgcaa tgccgtcatt gaccccttca tatatgcctt ccggagccca
     1021 gagctcaggg acgcattcaa aaagatgatc ttctgcagca ggtactggta gaatggctga
     1081 tccctggttt tagaatccat gggaataacg ttgccaagtg ccagaatagt gtaacattcc
     1141 aacaaatgcc agtgctcctc actggccttc cttccctaat ggatgcaagg atgatcccac
     1201 cagctagtgt ttctaatagc taggttctat gtgaacagtc ttattgtagg ggcaacctct
     1261 taactttgtg actggacaga taaaacgatg tagtaaaaga aggatagaat acaaagtatt
     1321 aggtaggtac aaaagtaatt aaggtttttg ccattacttt caatgaccaa aaattgcaat
     1381 tacttttgca ccaatctagt aaaacagcaa taaaaattca agggctttgg gctaaggcaa
     1441 agacttgctt tcctgtggac atctaacaag ccagttctga ggtggccttt ccaggtggag
     1501 gccattgcag ccaatttcca gaagttaagt acctggacat gcgactccag gcagaagatg
     1561 tagggtctct gtaagccaat aataaattgg aaggaatgca ttgctgcagc tgaatttgtc
     1621 tgtctcccac agccatgtgg aatctccacc ctcctctttc tccctgttag tctgatgtat
     1681 tgatgccacc tcagtttcag aaagtaggct gagtataaac tataaatgtc aaataacgag
     1741 cttcgagttt ccaatgataa atggaccttc tctgttagtc ttctttgctc actcagtatc
     1801 ccactggcct taaaaccctt tcctgttaca tttcctcatg ctttatgagc atacatttca
     1861 aaggaagaaa tgaaaattta atccatttag ttcccatgtg ggaatacata aaggccagat
     1921 gaaaattgtc actatttgaa gaagctgtaa ccaaactatg tgtgttacaa tgtagaagta
     1981 caagaaaaga gccccaacat gtattttaag aaataaagag agagagacag agacagacag
     2041 agagagagag agagagagag agagagagtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     2101 tgtgtgtgtg tgtgtgtgta ttttccccat gcttttggac tatggggaaa accaaaacca
     2161 aagcaagaca tcaagcaatg gtgctgttat tatagcccca agtcaaagac ctgagggagg
     2221 caaacaccac ctcattctgc agatgaatgt gaaagcagac ccagtcactg ggaaatgtca
     2281 tcctcccatc agccaagatg ccagcaatgg aagagtggca accccagtag gaataaaaga
     2341 aacataattt gcaagttcat tcatttttaa tagctaaaaa tcagcttaaa ggagaagcac
     2401 atcctgattg taagtcccca ctaagttgga gggtgacttg aatggggtga aaggtgaaag
     2461 ggacagagga gagcagtggg gcttcagagg ccaccaggct caggatctgc aggatggatg
     2521 gtatcttcca gaacaggcaa tgctttgccc tcaggagaat ttcccagagc tgctgagggg
     2581 agaagacagc cacacacagg acagaccatt tggtgatggg tttgatatta gaagtggcag
     2641 ggacaggaac ttcagaagca aaggaggcaa ggcagctgga gtcaagtgag gacagtggca
     2701 ggcgtgcttt cacatggcct gtcccacaga tggaggtgaa aggtgcacct tcttgtcctc
     2761 tgttctgtag aaatccttcc ctgtttgatc cttcccctgc caaatgaact atgttactct
     2821 aatactaacc tgtattaatt aatatatgag atatatataa gttaattttt catgaaatct
     2881 aaagcacaac cctagaacta atttttaaaa gtgttatttc taccattgaa aaagtaatgt
     2941 ataacatatt ttatgtgatt aaagtgcgta ttctcaataa gaggtaacct ttttttgatg
     3001 ctgcaatgct ctgtgatacc acagaggtaa gcaatgccac ttaacctgta tcataaatag
     3061 tcccaaactg ctcttcctat aaaattctgc ctttgtcaac agctttgctg tctcctaatc
     3121 actctcaagc tctctgctgt gcatgtgact gttgtcagaa ggaaaatcac caagaaactt
     3181 cacctctcac tgcctttgat ttgttgcagt taatctaaga aacaaaatga agatggctag
     3241 tctaatggtg gatgaaacaa aaatgaagtc tgagtgctaa ttcagagaac ttgcaattcc
     3301 agacattttc aattctaggt cttctgctat attccaatca gaacagaagc ttcagggctc
     3361 atagttactg agaaaactca cgtttttcta cctctaactt catatagaat tccaaatgaa
     3421 agcaccacca aactgcacat atttgtgtga ggaagatcaa caagcttcag acttttccca
     3481 tgaggactta attcttttat caaattaccc aatttttaaa ctgctgtgtg gatactgtga
     3541 gtgttcagct ttatcgatga cctagccttg gaccagatag ctgaaaatgt tcaggatgtg
     3601 tactcaagct gatagtaatt ctgagccctg tctaataaaa aaggaaggat gt
//
