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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GH2
growth hormone 2
Chromosome 17 · 17q23.3
NCBI Gene: 2689Ensembl: ENSG00000136487.18HGNC: HGNC:4262UniProt: A0A0M6L0J9
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
growth hormone receptor bindinghormone activitygrowth factor activityresponse to nutrient levelsAbnormality of the skeletal systemHypercholesterolemiagestational diabetessenile cataract
✦AI Summary

GH2 (growth hormone 2), located on chromosome 17, encodes placental growth hormone (GH-V), a variant distinct from the pituitary growth hormone encoded by GH1 1. The GH2 gene is specifically expressed in the syncytiotrophoblast and extravillous trophoblast cells of the placenta, where it produces a protein differing from pituitary GH by 13 amino acids 2. During pregnancy, placental GH gradually replaces pituitary GH in maternal circulation from mid-gestation onward, becoming the predominant circulating form by term 23. GH2-encoded placental GH demonstrates high somatogenic activity and is secreted non-pulsatilely, functioning as a metabolic adaptor during pregnancy and playing a crucial role in physiologic adjustment to gestation, particularly in controlling maternal insulin-like growth factor-I levels 24. Genetic variants in GH2 (rs2006123) are significantly associated with adult height determination, indicating that placental growth hormone contributes to developmental programming of postnatal stature 5. While placental GH-V does not directly affect fetal growth due to its absence in fetal circulation, it may influence placental development through autocrine or paracrine mechanisms 2. GH-V secretion is inhibited by glucose and is significantly decreased in intrauterine growth restriction pregnancies 2, highlighting its clinical relevance in pregnancy complications and maternal metabolic health.

Sources cited
1
GH2 is one of two GH genes on chromosome 17q; encodes GH-V protein expressed in placenta; describes GH isoforms and their bioactivity
PMID: 19467614
2
GH-V is product of GH gene expressed in syncytiotrophoblast; differs from pituitary GH by 13 amino acids; has high somatogenic, low lactogenic activity; gradually replaces pituitary GH in maternal circulation; secreted non-pulsatilely; controls maternal IGF-I levels
PMID: 9423763
3
GH2 encodes placental GH-V; expressed in syncytiotrophoblast and extravillous trophoblast; replaces GH-N at mid-late gestation as major circulating form; associated with fetal growth and pregnancy complications
PMID: 29659791
4
GH2 genetic variant rs2006123 is significantly associated with adult height; provides evidence for genetic contribution to developmental programming of postnatal stature
PMID: 24035309
5
GH2 (hGH-V) gene is located on chromosome 17 with other growth hormone genes; its placental chromosomal architecture is disrupted by maternal obesity, affecting GH-V expression
PMID: 29763375
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.30Weak
HypercholesterolemiaOpen Targets
0.21Weak
gestational diabetesOpen Targets
0.10Suggestive
senile cataractOpen Targets
0.08Suggestive
PituicytomaOpen Targets
0.06Suggestive
isolated growth hormone deficiency, type 4Open Targets
0.05Suggestive
Non-acquired isolated growth hormone deficiencyOpen Targets
0.05Suggestive
growth hormone-secreting pituitary adenomaOpen Targets
0.05Suggestive
short stature due to GHSR deficiencyOpen Targets
0.05Suggestive
short stature due to partial GHR deficiencyOpen Targets
0.05Suggestive
Pituitary Gland AdenomaOpen Targets
0.05Suggestive
non-acquired combined pituitary hormone deficiency with spine abnormalitiesOpen Targets
0.05Suggestive
pituitary adenocarcinomaOpen Targets
0.05Suggestive
growth hormone secreting pituitary adenoma 1Open Targets
0.05Suggestive
ANE syndromeOpen Targets
0.05Suggestive
panhypopituitarismOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 6 with or without anosmiaOpen Targets
0.04Suggestive
isolated growth hormone deficiency type IIOpen Targets
0.04Suggestive
Familial hyperprolactinemiaOpen Targets
0.04Suggestive
hyperprolactinemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSHL1Shared pathway100%GHRLProtein interaction100%JAK2Protein interaction99%THPOProtein interaction98%GHRHProtein interaction97%LEPProtein interaction95%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
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GH2CSHL1GHRLJAK2THPOGHRHLEP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P01242
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.45–0.99]
RankingsWhere GH2 stands among ~20K protein-coding genes
  • #9,078of 20,598
    Most Researched48
  • #9,557of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedGH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
T-cell specific in vivo gene delivery with DART-AAVs targeted to CD8.
PMID: 39113357
Mol Ther · 2024
1.00
2
Growth hormone isoforms.
PMID: 19467614
Growth Horm IGF Res · 2009
0.90
3
Bio-inspired nitric-oxide-driven nanomotor.
PMID: 30814497
Nat Commun · 2019
0.80
4
Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination.
PMID: 24035309
Placenta · 2013
0.70
5
GIPC gene family (Review).
PMID: 12011974
Int J Mol Med · 2002
0.60