LOCUS       NM_020547               2001 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens anti-Mullerian hormone receptor type 2 (AMHR2),
            transcript variant 1, mRNA.
ACCESSION   NM_020547
VERSION     NM_020547.3
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 2001)
  AUTHORS   Colaco,S., Achrekar,S., Patil,A., Sawant,U., Desai,S., Mangoli,V.,
            Jirge,P.R., Modi,D. and Mahale,S.D.
  TITLE     Association of AMH and AMHR2 gene polymorphisms with ovarian
            response and pregnancy outcomes in Indian women
  JOURNAL   J Assist Reprod Genet 39 (7), 1633-1642 (2022)
   PUBMED   35713750
  REMARK    GeneRIF: Association of AMH and AMHR2 gene polymorphisms with
            ovarian response and pregnancy outcomes in Indian women.
REFERENCE   2  (bases 1 to 2001)
  AUTHORS   Liu,Y., Wang,S., Lan,R. and Yang,J.
  TITLE     Identification of AMH and AMHR2 Variants Led to the Diagnosis of
            Persistent Mullerian Duct Syndrome in Three Cases
  JOURNAL   Genes (Basel) 13 (1), 159 (2022)
   PUBMED   35052499
  REMARK    GeneRIF: Identification of AMH and AMHR2 Variants Led to the
            Diagnosis of Persistent Mullerian Duct Syndrome in Three Cases.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2001)
  AUTHORS   Brunello,F.G. and Rey,R.A.
  TITLE     AMH and AMHR2 Involvement in Congenital Disorders of Sex
            Development
  JOURNAL   Sex Dev 16 (2-3), 138-146 (2022)
   PUBMED   34515230
  REMARK    GeneRIF: AMH and AMHR2 Involvement in Congenital Disorders of Sex
            Development.
            Review article
REFERENCE   4  (bases 1 to 2001)
  AUTHORS   Fang,J., Gao,G., Liu,J., Cai,L., Cui,Y. and Yang,X.
  TITLE     A novel mutation of AMHR2 in two brothers with persistent Mullerian
            duct syndrome and their intracytoplasmic sperm injection outcome
  JOURNAL   Mol Genet Genomic Med 9 (10), e1801 (2021)
   PUBMED   34480531
  REMARK    GeneRIF: A novel mutation of AMHR2 in two brothers with persistent
            Mullerian duct syndrome and their intracytoplasmic sperm injection
            outcome.
REFERENCE   5  (bases 1 to 2001)
  AUTHORS   Hart,K.N., Stocker,W.A., Nagykery,N.G., Walton,K.L., Harrison,C.A.,
            Donahoe,P.K., Pepin,D. and Thompson,T.B.
  TITLE     Structure of AMH bound to AMHR2 provides insight into a unique
            signaling pair in the TGF-beta family
  JOURNAL   Proc Natl Acad Sci U S A 118 (26) (2021)
   PUBMED   34155118
REFERENCE   6  (bases 1 to 2001)
  AUTHORS   Faure,E., Gouedard,L., Imbeaud,S., Cate,R., Picard,J.Y., Josso,N.
            and di Clemente,N.
  TITLE     Mutant isoforms of the anti-Mullerian hormone type II receptor are
            not expressed at the cell membrane
  JOURNAL   J Biol Chem 271 (48), 30571-30575 (1996)
   PUBMED   8940028
REFERENCE   7  (bases 1 to 2001)
  AUTHORS   Imbeaud,S., Belville,C., Messika-Zeitoun,L., Rey,R., di
            Clemente,N., Josso,N. and Picard,J.Y.
  TITLE     A 27 base-pair deletion of the anti-mullerian type II receptor gene
            is the most common cause of the persistent mullerian duct syndrome
  JOURNAL   Hum Mol Genet 5 (9), 1269-1277 (1996)
   PUBMED   8872466
REFERENCE   8  (bases 1 to 2001)
  AUTHORS   Teixeira,J. and Donahoe,P.K.
  TITLE     Molecular biology of MIS and its receptors
  JOURNAL   J Androl 17 (4), 336-341 (1996)
   PUBMED   8889695
  REMARK    Review article
REFERENCE   9  (bases 1 to 2001)
  AUTHORS   Imbeaud,S., Faure,E., Lamarre,I., Mattei,M.G., di Clemente,N.,
            Tizard,R., Carre-Eusebe,D., Belville,C., Tragethon,L., Tonkin,C.,
            Nelson,J., McAuliffe,M., Bidart,J.M., Lababidi,A., Josso,N.,
            Cate,R.L. and Picard,J.Y.
  TITLE     Insensitivity to anti-mullerian hormone due to a mutation in the
            human anti-mullerian hormone receptor
  JOURNAL   Nat Genet 11 (4), 382-388 (1995)
   PUBMED   7493017
REFERENCE   10 (bases 1 to 2001)
  AUTHORS   Visser,J.A., McLuskey,A., van Beers,T., Weghuis,D.O., van
            Kessel,A.G., Grootegoed,J.A. and Themmen,A.P.
  TITLE     Structure and chromosomal localization of the human anti-mullerian
            hormone type II receptor gene
  JOURNAL   Biochem Biophys Res Commun 215 (3), 1029-1036 (1995)
   PUBMED   7488027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB020573.1, AF172932.1,
            AC068889.35 and AJ572328.1.
            
            On Nov 30, 2016 this sequence version replaced NM_020547.2.
            
            Summary: This gene encodes the receptor for the anti-Mullerian
            hormone (AMH) which, in addition to testosterone, results in male
            sex differentiation. AMH and testosterone are produced in the
            testes by different cells and have different effects. Testosterone
            promotes the development of male genitalia while the binding of AMH
            to the encoded receptor prevents the development of the mullerian
            ducts into uterus and Fallopian tubes. Mutations in this gene are
            associated with persistent Mullerian duct syndrome type II.
            Alternatively spliced transcript variants encoding different
            isoforms have been identified. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: AF172932.1, BC126316.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257863.9/ ENSP00000257863.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB020573.1         1-24
            25-1117             AF172932.1         8-1100
            1118-1118           AC068889.35        22694-22694         c
            1119-1863           AF172932.1         1102-1846
            1864-2001           AJ572328.1         222-359
FEATURES             Location/Qualifiers
     source          1..2001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2001
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /note="anti-Mullerian hormone receptor type 2"
                     /db_xref="GeneID:269"
                     /db_xref="HGNC:HGNC:465"
                     /db_xref="MIM:600956"
     exon            1..129
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1802
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /EC_number="2.7.11.30"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; Mullerian inhibiting substance type II
                     receptor; MIS type II receptor; AMH type II receptor;
                     anti-Muellerian hormone type II receptor; Muellerian
                     inhibiting substance type II receptor; anti-Mullerian
                     hormone receptor, type II"
                     /codon_start=1
                     /product="anti-Muellerian hormone type-2 receptor isoform
                     1 precursor"
                     /protein_id="NP_065434.1"
                     /db_xref="CCDS:CCDS8858.1"
                     /db_xref="GeneID:269"
                     /db_xref="HGNC:HGNC:465"
                     /db_xref="MIM:600956"
                     /translation="MLGSLGLWALLPTAVEAPPNRRTCVFFEAPGVRGSTKTLGELLD
                     TGTELPRAIRCLYSRCCFGIWNLTQDRAQVEMQGCRDSDEPGCESLHCDPSPRAHPSP
                     GSTLFTCSCGTDFCNANYSHLPPPGSPGTPGSQGPQAAPGESIWMALVLLGLFLLLLL
                     LLGSIILALLQRKNYRVRGEPVPEPRPDSGRDWSVELQELPELCFSQVIREGGHAVVW
                     AGQLQGKLVAIKAFPPRSVAQFQAERALYELPGLQHDHIVRFITASRGGPGRLLSGPL
                     LVLELHPKGSLCHYLTQYTSDWGSSLRMALSLAQGLAFLHEERWQNGQYKPGIAHRDL
                     SSQNVLIREDGSCAIGDLGLALVLPGLTQPPAWTPTQPQGPAAIMEAGTQRYMAPELL
                     DKTLDLQDWGMALRRADIYSLALLLWEILSRCPDLRPDSSPPPFQLAYEAELGNTPTS
                     DELWALAVQERRRPYIPSTWRCFATDPDGLRELLEDCWDADPEARLTAECVQQRLAAL
                     AHPQESHPFPESCPRGCPPLCPEDCTSIPAPTILPCRPQRSACHFSVQQGPCSRNPQP
                     ACTLSPV"
     exon            130..312
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            313..504
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            505..582
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            583..701
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            702..932
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1047
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1220
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1368
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1505
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..2001
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1838..1843
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /note="hexamer: CATAAA"
     polyA_site      1856
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /note="major polyA site"
     regulatory      1978..1983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
                     /note="hexamer: AATAAA"
     polyA_site      2001
                     /gene="AMHR2"
                     /gene_synonym="AMHR; MISR2; MISRII; MRII"
ORIGIN      
        1 gtatctgaag aaagatttgg ccaggggcag ctgtgctggc ttatgctctt ctccttctgc
       61 tgctgccatc ctccagcaag atgctagggt ctttggggct ttgggcatta cttcccacag
      121 ctgtggaagc acccccaaac aggcgaacct gtgtgttctt tgaggcccct ggagtgcggg
      181 gaagcacaaa gacactggga gagctgctag atacaggcac agagctcccc agagctatcc
      241 gctgcctcta cagccgctgc tgctttggga tctggaacct gacccaagac cgggcacagg
      301 tggaaatgca aggatgccga gacagtgatg agccaggctg tgagtccctc cactgtgacc
      361 caagtccccg agcccacccc agccctggct ccactctctt cacctgctcc tgtggcactg
      421 acttctgcaa tgccaattac agccatctgc ctcctccagg gagccctggg actcctggct
      481 cccagggtcc ccaggctgcc ccaggtgagt ccatctggat ggcactggtg ctgctggggc
      541 tgttcctcct cctcctgctg ctgctgggca gcatcatctt ggccctgcta cagcgaaaga
      601 actacagagt gcgaggtgag ccagtgccag agccaaggcc agactcaggc agggactgga
      661 gtgtggagct gcaggagctg cctgagctgt gtttctccca ggtaatccgg gaaggaggtc
      721 atgcagtggt ttgggccggg cagctgcaag gaaaactggt tgccatcaag gccttcccac
      781 cgaggtctgt ggctcagttc caagctgaga gagcattgta cgaacttcca ggcctacagc
      841 acgaccacat tgtccgattt atcactgcca gccggggggg tcctggccgc ctgctctctg
      901 ggcccctgct ggtactggaa ctgcatccca agggctccct gtgccactac ttgacccagt
      961 acaccagtga ctggggaagt tccctgcgga tggcactgtc cctggcccag ggcctggcat
     1021 ttctccatga ggagcgctgg cagaatggcc aatataaacc aggtattgcc caccgagatc
     1081 tgagcagcca gaatgtgctc attcgggaag atggatcgtg tgccattgga gacctgggcc
     1141 ttgccttggt gctccctggc ctcactcagc cccctgcctg gacccctact caaccacaag
     1201 gcccagctgc catcatggaa gctggcaccc agaggtacat ggcaccagag ctcttggaca
     1261 agactctgga cctacaggat tggggcatgg ccctccgacg agctgatatt tactctttgg
     1321 ctctgctcct gtgggagata ctgagccgct gcccagattt gaggcctgac agcagtccac
     1381 cacccttcca actggcctat gaggcagaac tgggcaatac ccctacctct gatgagctat
     1441 gggccttggc agtgcaggag aggaggcgtc cctacatccc atccacctgg cgctgctttg
     1501 ccacagaccc tgatgggctg agggagctcc tagaagactg ttgggatgca gacccagaag
     1561 cacggctgac agctgagtgt gtacagcagc gcctggctgc cttggcccat cctcaagaga
     1621 gccacccctt tccagagagc tgtccacgtg gctgcccacc tctctgccca gaagactgta
     1681 cttcaattcc tgcccctacc atcctcccct gtaggcctca gcggagtgcc tgccacttca
     1741 gcgttcagca aggcccttgt tccaggaatc ctcagcctgc ctgtaccctt tctcctgtgt
     1801 aaatatgcag tttatgtgtc atcaatgtac atgccaacat aaatatggcg attgtatagc
     1861 tgtcttgtct gcctcatcac tgcatttccc acctgccgaa tccttggatt cttctgcggg
     1921 catccagtcc acatcagttc tgaccagtga cttggggtag gtgtgcacag gaaagagaat
     1981 aaagtcagct ttcctgatgc a
//
