GH2 growth hormone 2 [Homo sapiens (human)] - Gene

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-J03756 (e-PCR)
- UniSTS:49793

RH66837 (e-PCR)
- UniSTS:14553

GHI (e-PCR)
- UniSTS:266722

NoName (e-PCR)
- UniSTS:482286

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)

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
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
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
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