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    GH2 growth hormone 2 [ Homo sapiens (human) ]

    Gene ID: 2689, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GH2provided by HGNC
    Official Full Name
    growth hormone 2provided by HGNC
    Primary source
    HGNC:HGNC:4262
    See related
    Ensembl:ENSG00000136487 MIM:139240; AllianceGenome:HGNC:4262
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GHL; GHV; GH-V; GHB2; hGH-V
    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]
    Expression
    Restricted expression toward placenta (RPKM 103.3) See more
    Orthologs
    all
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    Genomic context

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    See GH2 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63880215..63881944, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64750989..64752719, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61957575..61959304, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene testicular cell adhesion molecule 1, pseudogene Neighboring gene chorionic somatomammotropin hormone 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61958700-61959660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8834 Neighboring gene chorionic somatomammotropin hormone 1 Neighboring gene chorionic somatomammotropin hormone like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning of two novel growth hormone transcripts expressed in human placenta. Boguszewski CL, et al. J Clin Endocrinol Metab, 1998 Aug. PMID 9709963
    2. Genes for growth hormone, chorionic somatommammotropin, and growth hormones-like gene on chromosome 17 in humans. Owerbach D, et al. Science, 1980 Jul 11. PMID 7384802
    3. hGH-V gene expression and promoter activity under glucose and 5-azacytidine (5azaC) effects. de Jesús Romero-Prado MM, et al. Gene, 2010 Feb 15. PMID 20005926
    4. Placental growth hormone is increased in the maternal and fetal serum of patients with preeclampsia. Mittal P, et al. J Matern Fetal Neonatal Med, 2007 Sep. PMID 17701665, Free PMC Article
    5. Both pituitary and placental growth hormone transcripts are expressed in human peripheral blood mononuclear cells (PBMC). Melen L, et al. Clin Exp Immunol, 1997 Nov. PMID 9367422, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Type 1 diabetic women delivering large for gestational age infants had lower placental GH levels in early pregnancy.
      Title: Lower levels of placental growth hormone in early pregnancy in women with type 1 diabetes and large for gestational age infants.
    2. 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]
      Title: Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination.
    3. 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.
      Title: Maternal serum placental growth hormone at 11-13 weeks' gestation in pregnancies delivering small for gestational age neonates.
    4. results are consistent with a pleiotropic effect of placental hGH/CSH genes at the maternal-fetal interface relating to the regulation of fetal growth and the risk of affected maternal metabolism.
      Title: Differential placental expression profile of human Growth Hormone/Chorionic Somatomammotropin genes in pregnancies with pre-eclampsia and gestational diabetes mellitus.
    5. These results suggest that the normal PGH-IGF-I-IGFBP3 axis in pregnancy is abnormal in Type 1 Diabetic pregnancies.
      Title: Maternal and fetal placental growth hormone and IGF axis in type 1 diabetic pregnancy.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence.
    7. early first trimester maternal serum marker for Down syndrome
      Title: Placental growth hormone and growth hormone binding protein are first trimester maternal serum markers of Down syndrome.
    8. The hGH-V promoter activity and the endogenous mRNA expression in human placental choriocarcinoma cell line JAR in the presence of glucose and demethylating genome conditions, were compared.
      Title: hGH-V gene expression and promoter activity under glucose and 5-azacytidine (5azaC) effects.
    9. Placental growth hormone (PGH) secretion by BeWo cells is regulated by hormonal factors and adipokines. Elevated insulin and leptin levels might down-regulate PGH secretion.
      Title: Regulation of placental growth hormone secretion in a human trophoblast model--the effects of hormones and adipokines.
    10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of growth hormone 2 (GH2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Overexpression of phosphatidylinositol 4 phosphate 5-kinase (PIP5K) suppresses HIV-1 Tat-mediated inhibition of growth hormone secretion from cells PubMed
    tat HIV-1 Tat binding to phosphatidylinositol-(4,5)-bisphophate is required for inhibition of growth hormone secretion from cells PubMed
    tat Growth hormone (GH) inhibits the induction of p53 expression in neurons by supernatants from HIV-1 Tat-transfected monocytoid cells, indicating GH may have a role in the treatment of HIV-induced neurodegeneration PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CSH2

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to nutrient levels IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    growth hormone variant
    Names
    growth hormone B2
    placenta-specific growth hormone
    placental-specific growth hormone

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002059.5 → NP_002050.1  growth hormone variant isoform 1 precursor

      See identical proteins and their annotated locations for NP_002050.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) utilizes all five exons generating the predominant 22-kDa isoform (1).
      Source sequence(s)
      AC040958, AU139016, BC020760, CF528273
      Consensus CDS
      CCDS11647.1
      UniProtKB/Swiss-Prot
      B1A4H5, B1A4H7, O14643, O14644, P01242, P09587
      UniProtKB/TrEMBL
      A0A0M6L0J9, Q6FH32, Q6FH54
      Related
      ENSP00000409294.2, ENST00000423893.7
      Conserved Domains (1) summary
      cd10285
      Location:35 → 215
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    2. NM_022556.4 → NP_072050.1  growth hormone variant isoform 4 precursor

      See identical proteins and their annotated locations for NP_072050.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) utilizes an alternative splice acceptor site 45 nt into exon 3 to generate the 20-kDa isoform (4) which has an internal deletion relative to the predominant 22-kDa isoform (1).
      Source sequence(s)
      AC040958, AF006060, AU139016, CF528273
      Consensus CDS
      CCDS45758.1
      UniProtKB/TrEMBL
      Q6FH32, Q6FH54
      Related
      ENSP00000410618.2, ENST00000449787.6
      Conserved Domains (1) summary
      cd10285
      Location:35 → 200
      somatotropin_like; Somatotropin or growth hormone (GH), placental lactogen, and related pituitary gland hormones

    3. NM_022557.4 → NP_072051.1  growth hormone variant isoform 2 precursor

      See identical proteins and their annotated locations for NP_072051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes intron D to generate the longest isoform (2), which diverges from all other GH isoforms in the carboxy terminus.
      Source sequence(s)
      AC040958, AK312194, AU139016, CF528273, J03756
      Consensus CDS
      CCDS11648.1
      UniProtKB/Swiss-Prot
      P01242
      Related
      ENSP00000333157.7, ENST00000332800.7
      Conserved Domains (1) summary
      cl07831
      Location:35 → 170
      growth_hormone_like; Somatotropin/prolactin hormone family

    4. NM_022558.4 → NP_072052.1  growth hormone variant isoform 3 precursor

      See identical proteins and their annotated locations for NP_072052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) utilizes an alternative splice donor site in exon 4 causing a 4 nt deletion and a frameshift which generates an isoform (3) with a unique carboxy-terminus.
      Source sequence(s)
      AC040958, AF006061, AU139016
      Consensus CDS
      CCDS45757.1
      UniProtKB/Swiss-Prot
      P01242
      Related
      ENSP00000394122.2, ENST00000456543.6
      Conserved Domains (1) summary
      cl07831
      Location:35 → 185
      growth_hormone_like; Somatotropin/prolactin hormone family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63880215..63881944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64750989..64752719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01242.3 GenPept UniProtKB/Swiss-Prot:P01242

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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