LOCUS       NM_002059                903 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens growth hormone 2 (GH2), transcript variant 1, mRNA.
ACCESSION   NM_002059
VERSION     NM_002059.5
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 903)
  AUTHORS   Premzl,M.
  TITLE     Curated eutherian third party data gene data sets
  JOURNAL   Data Brief 6, 208-213 (2015)
   PUBMED   26862561
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 903)
  AUTHORS   Ringholm,L., Juul,A., Pedersen-Bjergaard,U., Thorsteinsson,B.,
            Damm,P. and Mathiesen,E.R.
  TITLE     Lower levels of placental growth hormone in early pregnancy in
            women with type 1 diabetes and large for gestational age infants
  JOURNAL   Growth Horm IGF Res 25 (6), 312-315 (2015)
   PUBMED   26589570
  REMARK    GeneRIF: Type 1 diabetic women delivering large for gestational age
            infants had lower placental GH levels in early pregnancy.
REFERENCE   3  (bases 1 to 903)
  AUTHORS   Premzl,M.
  TITLE     Third party data gene data set of eutherian growth hormone genes
  JOURNAL   Genom Data 6, 166-169 (2015)
   PUBMED   26697363
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 903)
  AUTHORS   Timasheva,Y., Putku,M., Kivi,R., Kozich,V., Mannik,J. and Laan,M.
  TITLE     Developmental programming of growth: genetic variant in GH2 gene
            encoding placental growth hormone contributes to adult height
            determination
  JOURNAL   Placenta 34 (11), 995-1001 (2013)
   PUBMED   24035309
  REMARK    GeneRIF: genetic association studies in populations in Estonia,
            Czech Republic, and Bashkortostan/Russia: Data suggest an SNP in
            GH2 (rs2006123) is associated with adult height (not body mass
            index); A-allele is associated with taller stature. [META-ANALYSIS]
REFERENCE   5  (bases 1 to 903)
  AUTHORS   Sifakis,S., Akolekar,R., Kappou,D., Mantas,N. and Nicolaides,K.H.
  TITLE     Maternal serum placental growth hormone at 11-13 weeks' gestation
            in pregnancies delivering small for gestational age neonates
  JOURNAL   J Matern Fetal Neonatal Med 25 (9), 1796-1799 (2012)
   PUBMED   22489624
  REMARK    GeneRIF: Maternal serum PGH at 11-13 weeks' gestation is unlikely
            to be a useful biochemical marker for early prediction of small for
            gestational age neonates.
REFERENCE   6  (bases 1 to 903)
  AUTHORS   MacLeod,J.N., Lee,A.K., Liebhaber,S.A. and Cooke,N.E.
  TITLE     Developmental control and alternative splicing of the placentally
            expressed transcripts from the human growth hormone gene cluster
  JOURNAL   J Biol Chem 267 (20), 14219-14226 (1992)
   PUBMED   1378436
REFERENCE   7  (bases 1 to 903)
  AUTHORS   Baumann,G., Davila,N., Shaw,M.A., Ray,J., Liebhaber,S.A. and
            Cooke,N.E.
  TITLE     Binding of human growth hormone (GH)-variant (placental GH) to
            GH-binding proteins in human plasma
  JOURNAL   J Clin Endocrinol Metab 73 (6), 1175-1179 (1991)
   PUBMED   1955498
REFERENCE   8  (bases 1 to 903)
  AUTHORS   Vnencak-Jones,C.L. and Phillips,J.A. 3rd.
  TITLE     Hot spots for growth hormone gene deletions in homologous regions
            outside of Alu repeats
  JOURNAL   Science 250 (4988), 1745-1748 (1990)
   PUBMED   1980158
REFERENCE   9  (bases 1 to 903)
  AUTHORS   Frankenne,F., Scippo,M.L., Van Beeumen,J., Igout,A. and Hennen,G.
  TITLE     Identification of placental human growth hormone as the growth
            hormone-V gene expression product
  JOURNAL   J Clin Endocrinol Metab 71 (1), 15-18 (1990)
   PUBMED   2196278
REFERENCE   10 (bases 1 to 903)
  AUTHORS   Igout,A., Scippo,M.L., Frankenne,F. and Hennen,G.
  TITLE     Cloning and nucleotide sequence of placental hGH-V cDNA
  JOURNAL   Arch Int Physiol Biochim 96 (1), 63-67 (1988)
   PUBMED   2460050
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC040958.20, AU139016.1,
            BC020760.1 and CF528273.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002059.4.
            
            Summary: The protein encoded by this gene is a member of the
            somatotropin/prolactin family of hormones which play an important
            role in growth control. The gene, along with four other related
            genes, is located at the growth hormone locus on chromosome 17
            where they are interspersed in the same transcriptional
            orientation; an arrangement which is thought to have evolved by a
            series of gene duplications. The five genes share a remarkably high
            degree of sequence identity. Alternative splicing generates
            additional isoforms of each of the five growth hormones, leading to
            further diversity and potential for specialization. As in the case
            of its pituitary counterpart, growth hormone 1, the predominant
            isoform of this particular family member shows similar somatogenic
            activity, with reduced lactogenic activity. Mutations in this gene
            lead to placental growth hormone/lactogen deficiency. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) utilizes all five exons
            generating the predominant 22-kDa 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 :: BX382250.2, BX439737.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423893.7/ ENSP00000409294.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC040958.20        12685-12686         c
            3-81                AU139016.1         1-79
            82-900              BC020760.1         1-819
            901-903             CF528273.1         21-23               c
FEATURES             Location/Qualifiers
     source          1..903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..903
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /note="growth hormone 2"
                     /db_xref="GeneID:2689"
                     /db_xref="HGNC:HGNC:4262"
                     /db_xref="MIM:139240"
     exon            1..153
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..797
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; placental-specific growth hormone;
                     placenta-specific growth hormone; growth hormone B2"
                     /codon_start=1
                     /product="growth hormone variant isoform 1 precursor"
                     /protein_id="NP_002050.1"
                     /db_xref="CCDS:CCDS11647.1"
                     /db_xref="GeneID:2689"
                     /db_xref="HGNC:HGNC:4262"
                     /db_xref="MIM:139240"
                     /translation="MAAGSRTSLLLAFGLLCLSWLQEGSAFPTIPLSRLFDNAMLRAR
                     RLYQLAYDTYQEFEEAYILKEQKYSFLQNPQTSLCFSESIPTPSNRVKTQQKSNLELL
                     RISLLLIQSWLEPVQLLRSVFANSLVYGASDSNVYRHLKDLEEGIQTLMWRLEDGSPR
                     TGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF"
     exon            154..314
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /inference="alignment:Splign:2.1.0"
     exon            315..434
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /inference="alignment:Splign:2.1.0"
     exon            435..599
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /inference="alignment:Splign:2.1.0"
     exon            600..903
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /inference="alignment:Splign:2.1.0"
     regulatory      884..889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /note="hexamer: AATAAA"
     polyA_site      903
                     /gene="GH2"
                     /gene_synonym="GH-V; GHB2; GHL; GHV; hGH-V"
                     /note="major polyA site"
ORIGIN      
        1 aaacatgcag agaaacaggt gaggagaagc agcgagagag aaggggccag gtataaaaag
       61 ggcccacaag agaccagctc aaggatccca aggcccaact ccccgaacca ctcagggtcc
      121 tgtggacagc tcacctagcg gcaatggctg caggctcccg gacgtccctg ctcctggctt
      181 ttggcctgct ctgcctgtcc tggcttcaag agggcagtgc cttcccaacc attcccttat
      241 ccaggctttt tgacaacgct atgctccgcg cccgtcgcct gtaccagctg gcatatgaca
      301 cctatcagga gtttgaagaa gcctatatcc tgaaggagca gaagtattca ttcctgcaga
      361 acccccagac ctccctctgc ttctcagagt ctattccaac accttccaac agggtgaaaa
      421 cgcagcagaa atctaaccta gagctgctcc gcatctccct gctgctcatc cagtcatggc
      481 tggagcccgt gcagctcctc aggagcgtct tcgccaacag cctggtgtat ggcgcctcgg
      541 acagcaacgt ctatcgccac ctgaaggacc tagaggaagg catccaaacg ctgatgtgga
      601 ggctggaaga tggcagcccc cggactgggc agatcttcaa tcagtcctac agcaagtttg
      661 acacaaaatc gcacaacgat gacgcactgc tcaagaacta cgggctgctc tactgcttca
      721 ggaaggacat ggacaaggtc gagacattcc tgcgcatcgt gcagtgccgc tctgtggagg
      781 gcagctgtgg cttctagctg cccgggtggc atccctgtga cccctcccca gtgcctctcc
      841 tggtcgtgga aggtgctact ccagtgccca ccagccttgt cctaataaaa ttaagttgca
      901 tca
//
