LOCUS       NM_000233               3076 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens luteinizing hormone/choriogonadotropin receptor
            (LHCGR), mRNA.
ACCESSION   NM_000233
VERSION     NM_000233.4
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 3076)
  AUTHORS   Wemmert,S., Pyrski,M., Pillong,L., Linxweiler,M., Zufall,F.,
            Leinders-Zufall,T. and Schick,B.
  TITLE     Widespread Distribution of Luteinizing Hormone/Choriogonadotropin
            Receptor in Human Juvenile Angiofibroma: Implications for a
            Sex-Specific Nasal Tumor
  JOURNAL   Cells 13 (14), 1217 (2024)
   PUBMED   39056799
  REMARK    GeneRIF: Widespread Distribution of Luteinizing
            Hormone/Choriogonadotropin Receptor in Human Juvenile Angiofibroma:
            Implications for a Sex-Specific Nasal Tumor.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3076)
  AUTHORS   Behvarz,M., Rahmani,S.A., Siasi Torbati,E., Danaei Mehrabad,S. and
            Bikhof Torbati,M.
  TITLE     Correlation between LHCGR and NR5A1 genes polymorphism and male
            infertility risk
  JOURNAL   Actas Urol Esp (Engl Ed) 48 (3), 246-253 (2024)
   PUBMED   37827240
  REMARK    GeneRIF: Correlation between LHCGR and NR5A1 genes polymorphism and
            male infertility risk.
REFERENCE   3  (bases 1 to 3076)
  AUTHORS   Li,Y., Lin,J., Fu,S., Li,L., Huang,Z., Yang,H., Liang,X., Qin,Y.,
            Zhou,J., Liu,D. and Luo,Z.
  TITLE     The mystery of transient pregnancy-induced cushing's syndrome: a
            case report and literature review highlighting GNAS somatic
            mutations and LHCGR overexpression
  JOURNAL   Endocrine 83 (2), 473-482 (2024)
   PUBMED   37828397
  REMARK    GeneRIF: The mystery of transient pregnancy-induced cushing's
            syndrome: a case report and literature review highlighting GNAS
            somatic mutations and LHCGR overexpression.
            Review article
REFERENCE   4  (bases 1 to 3076)
  AUTHORS   Singh,S., Kaur,M., Beri,A. and Kaur,A.
  TITLE     Significance of LHCGR polymorphisms in polycystic ovary syndrome:
            an association study
  JOURNAL   Sci Rep 13 (1), 22841 (2023)
   PUBMED   38129424
  REMARK    GeneRIF: Significance of LHCGR polymorphisms in polycystic ovary
            syndrome: an association study.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3076)
  AUTHORS   Shahid,A. and Ibrahim,M.N.
  TITLE     Gonadotropin independent sexual precocity in a Pakistani male
            infant from an activating mutation in LHCGR gene
  JOURNAL   J Pak Med Assoc 73 (12), 2458-2461 (2023)
   PUBMED   38083932
  REMARK    GeneRIF: Gonadotropin independent sexual precocity in a Pakistani
            male infant from an activating mutation in LHCGR gene.
REFERENCE   6  (bases 1 to 3076)
  AUTHORS   Nagayama,Y., Russo,D., Wadsworth,H.L., Chazenbalk,G.D. and
            Rapoport,B.
  TITLE     Eleven amino acids (Lys-201 to Lys-211) and 9 amino acids (Gly-222
            to Leu-230) in the human thyrotropin receptor are involved in
            ligand binding
  JOURNAL   J Biol Chem 266 (23), 14926-14930 (1991)
   PUBMED   1651314
REFERENCE   7  (bases 1 to 3076)
  AUTHORS   Jia,X.C., Oikawa,M., Bo,M., Tanaka,T., Ny,T., Boime,I. and
            Hsueh,A.J.
  TITLE     Expression of human luteinizing hormone (LH) receptor: interaction
            with LH and chorionic gonadotropin from human but not equine, rat,
            and ovine species
  JOURNAL   Mol Endocrinol 5 (6), 759-768 (1991)
   PUBMED   1922095
REFERENCE   8  (bases 1 to 3076)
  AUTHORS   Minegishi,T., Nakamura,K., Takakura,Y., Miyamoto,K., Hasegawa,Y.,
            Ibuki,Y., Igarashi,M. and Minegish T [corrected to Minegishi,T.].
  TITLE     Cloning and sequencing of human LH/hCG receptor cDNA
  JOURNAL   Biochem Biophys Res Commun 172 (3), 1049-1054 (1990)
   PUBMED   2244890
  REMARK    Erratum:[Biochem Biophys Res Commun 1994 Jun 15;201(2):1057]
REFERENCE   9  (bases 1 to 3076)
  AUTHORS   Frazier,A.L., Robbins,L.S., Stork,P.J., Sprengel,R., Segaloff,D.L.
            and Cone,R.D.
  TITLE     Isolation of TSH and LH/CG receptor cDNAs from human thyroid:
            regulation by tissue specific splicing
  JOURNAL   Mol Endocrinol 4 (8), 1264-1276 (1990)
   PUBMED   2293030
REFERENCE   10 (bases 1 to 3076)
  AUTHORS   Rousseau-Merck,M.F., Misrahi,M., Atger,M., Loosfelt,H., Milgrom,E.
            and Berger,R.
  TITLE     Localization of the human luteinizing hormone/choriogonadotropin
            receptor gene (LHCGR) to chromosome 2p21
  JOURNAL   Cytogenet Cell Genet 54 (1-2), 77-79 (1990)
   PUBMED   2249480
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087816.4, S57793.1,
            AC073082.6 and BX101581.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000233.3.
            
            Summary: This gene encodes the receptor for both luteinizing
            hormone and choriogonadotropin. This receptor belongs to the
            G-protein coupled receptor 1 family, and its activity is mediated
            by G proteins which activate adenylate cyclase. Mutations in this
            gene result in disorders of male secondary sexual character
            development, including familial male precocious puberty, also known
            as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell
            adenoma with precocious puberty, and male pseudohermaphtoditism
            with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: M63108.1, S57793.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294954.12/ ENSP00000294954.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AC087816.4         13250-13302
            54-2153             S57793.1           1-2100
            2154-2614           AC073082.6         16802-17262
            2615-3076           BX101581.1         6-467
FEATURES             Location/Qualifiers
     source          1..3076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..3076
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="luteinizing hormone/choriogonadotropin receptor"
                     /db_xref="GeneID:3973"
                     /db_xref="HGNC:HGNC:6585"
                     /db_xref="MIM:152790"
     exon            1..214
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..2153
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="hypergonadotropic hypogonadism;
                     lutropin/choriogonadotropin receptor;
                     lutropin-choriogonadotropic hormone receptor"
                     /codon_start=1
                     /product="lutropin-choriogonadotropic hormone receptor
                     precursor"
                     /protein_id="NP_000224.2"
                     /db_xref="CCDS:CCDS1842.1"
                     /db_xref="GeneID:3973"
                     /db_xref="HGNC:HGNC:6585"
                     /db_xref="MIM:152790"
                     /translation="MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRC
                     PGPTAGLTRLSLAYLPVKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLLNLSE
                     ILIQNTKNLRYIEPGAFINLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLH
                     ITTIPGNAFQGMNNESVTLKLYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAF
                     RGATGPKTLDISSTKLQALPSYGLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYP
                     SHCCAFRNLPTKEQNFSHSISENFSKQCESTVRKVNNKTLYSSMLAESELSGWDYEYG
                     FCLPKTPRCAPEPDAFNPCEDIMGYDFLRVLIWLINILAIMGNMTVLFVLLTSRYKLT
                     VPRFLMCNLSFADFCMGLYLLLIASVDSQTKGQYYNHAIDWQTGSGCSTAGFFTVFAS
                     ELSVYTLTVITLERWHTITYAIHLDQKLRLRHAILIMLGGWLFSSLIAMLPLVGVSNY
                     MKVSICFPMDVETTLSQVYILTILILNVVAFFIICACYIKIYFAVRNPELMATNKDTK
                     IAKKMAILIFTDFTCMAPISFFAISAAFKVPLITVTNSKVLLVLFYPINSCANPFLYA
                     IFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYTSNCKNGFTGSNKPSQSTLKLST
                     LHCQGTALLDKTRYTEC"
     exon            215..286
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            287..361
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            362..436
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            437..511
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            512..589
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            590..658
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            659..733
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            734..919
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1000
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..3076
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3049..3054
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="hexamer: AATAAA"
     polyA_site      3076
                     /gene="LHCGR"
                     /gene_synonym="HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHR;
                     LHRHR; LSH-R; ULG5"
                     /note="major polyA site"
ORIGIN      
        1 actcagaggc cgtccaagac actggcaagc cgcagaagcc cagttcgccg gccatgaagc
       61 agcggttctc ggcgctgcag ctgctgaagc tgctgctgct gctgcagccg ccgctgccac
      121 gagcgctgcg cgaggcgctc tgccctgagc cctgcaactg cgtgcccgac ggcgccctgc
      181 gctgccccgg ccccacggcc ggtctcactc gactatcact tgcctacctc cctgtcaaag
      241 tgatcccatc tcaagctttc agaggactta atgaggtcat aaaaattgaa atctctcaga
      301 ttgattccct ggaaaggata gaagctaatg cctttgacaa cctcctcaat ttgtctgaaa
      361 tactgatcca gaacaccaaa aatctgagat acattgagcc cggagcattt ataaatcttc
      421 cccgattaaa atacttgagc atctgtaaca caggcatcag aaagtttcca gatgttacga
      481 aggtcttctc ctctgaatca aatttcattc tggaaatttg tgataactta cacataacca
      541 ccataccagg aaatgctttt caagggatga ataatgaatc tgtaacactc aaactatatg
      601 gaaatggatt tgaagaagta caaagtcatg cattcaatgg gacgacactg acttcactgg
      661 agctaaagga aaacgtacat ctggagaaga tgcacaatgg agccttccgt ggggccacag
      721 ggccgaaaac cttggatatt tcttccacca aattgcaggc cctgccgagc tatggcctag
      781 agtccattca gaggctaatt gccacgtcat cctattctct aaaaaaattg ccatcaagag
      841 aaacatttgt caatctcctg gaggccacgt tgacttaccc cagccactgc tgtgctttta
      901 gaaacttgcc aacaaaagaa cagaattttt cacattccat ttctgaaaac ttttccaaac
      961 aatgtgaaag cacagtaagg aaagtgaata acaaaacact ttattcttcc atgcttgctg
     1021 agagtgaact gagtggctgg gactatgaat atggtttctg cttacccaag acaccccgat
     1081 gtgctcctga accagatgct tttaatccct gtgaagatat tatgggctat gacttcctta
     1141 gggtcctgat ttggctgatt aatattctag ccatcatggg aaacatgact gttctttttg
     1201 ttctcctgac aagtcgttac aaacttacag tgcctcgttt tctcatgtgc aatctctcct
     1261 ttgcagactt ttgcatgggg ctctatctgc tgctcatagc ctcagttgat tcccaaacca
     1321 agggccagta ctataaccat gccatagact ggcagacagg gagtgggtgc agcactgctg
     1381 gctttttcac tgtattcgca agtgaacttt ctgtctacac cctcaccgtc atcactctag
     1441 aaagatggca caccatcacc tatgctattc acctggacca aaagctgcga ttaagacatg
     1501 ccattctgat tatgcttgga ggatggctct tttcttctct aattgctatg ttgccccttg
     1561 tcggtgtcag caattacatg aaggtcagta tttgcttccc catggatgtg gaaaccactc
     1621 tctcacaagt ctatatatta accatcctga ttctcaatgt ggtggccttc ttcataattt
     1681 gtgcttgcta cattaaaatt tattttgcag ttcgaaaccc agaattaatg gctaccaata
     1741 aagatacaaa gattgctaag aaaatggcaa tcctcatctt caccgatttc acctgcatgg
     1801 cacctatctc tttttttgcc atctcagctg ccttcaaagt acctcttatc acagtaacca
     1861 actctaaagt tttactggtt cttttttatc ccatcaattc ttgtgccaat ccatttctgt
     1921 atgcaatatt cactaagaca ttccaaagag atttctttct tttgctgagc aaatttggct
     1981 gctgtaaacg tcgggctgaa ctttatagaa ggaaagattt ttcagcttac acctccaact
     2041 gcaaaaatgg cttcactgga tcaaataagc cttctcaatc caccttgaag ttgtccacat
     2101 tgcactgtca aggtacagct ctcctagaca agactcgcta cacagagtgt taactgttac
     2161 atcagtaact gcattattga attgttctta aacctgtaaa aaaaaattac ctgtaccagt
     2221 aattttaaca taaagggttg gatttaggaa attatttatt tttaggtaca ttaggcaaga
     2281 gacctctacc tagtagaaag tgtagtctat gaccactgcc acactaaaaa ctatttgtca
     2341 ttgttacatg gcataaatac tgaagttgag agtgtttaga aatttttata gaaattttga
     2401 cacagtaatt ttgtttgatg aatcttttaa aaaactgagg aggtattttg catatctttt
     2461 ttttcatttt cgtaatttgt attgcattct ataaaaatat tagttcataa cagatcagaa
     2521 atttaaaata actggccttt ttcctcaggt agtttgaaaa acacactcta gagatgcact
     2581 gtccaatccg gtagccacta gccacatgtg gctaaattaa aattaaataa aatgagaaat
     2641 gtagtttctc agttgcacta gccacgtttc aagttctcaa tggctacgtg tgactagtgc
     2701 ttaccatact ggacagcaca gacacagaat attttcatca ccacagaaag ttctatctgt
     2761 tctattatag agacttttat ctatgcccta tctggattct acttatttat aatttaaggt
     2821 aaacatctga aagcacattt cagcctattt gcttagtgaa acattaagct gtagactgta
     2881 aactcctcgt gagtaggaac cctgtctcag tgcattttgt tttcctgctt cctacctcaa
     2941 gatcttggca atggtacact acaaatgtgc tgagttagaa ttactctgaa gttatgaaac
     3001 atataatgaa aacaattttt tctagagctt atatttttat ttgaatgaaa taaaatgttt
     3061 aaatatttaa aaataa
//
