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GH2 growth hormone 2 [ Homo sapiens (human) ]

Gene ID: 2689, updated on 2-Nov-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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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)

Genotypes

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

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