GH2 Gene - Growth Hormone 2
Placental Growth Hormone Variant (GH-V) Gene: Function, Expression, and Clinical Significance
Gene Information Card
| Symbol | GH2 |
|---|---|
| Full Name | Growth Hormone 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 2689 ncbi.nlm.nih.gov/gene/2689 |
| Ensembl ID | ENSG00000136487 |
| UniProt ID | P01242 |
| OMIM ID | 139240 |
| HGNC ID | 4262 |
| Aliases | GH-V, GHB1, hGH-V, CS-5, CSH1 |
Description
GH2 (Growth Hormone 2) encodes the placental growth hormone variant (GH-V), a member of the somatotropin/prolactin family of hormones. It is expressed primarily in the placenta and regulates maternal metabolism during pregnancy, including insulin-like growth factor (IGF) production and glucose homeostasis. The gene is located in the growth hormone gene cluster on chromosome 17q23.3 and shares high sequence homology with GH1 (pituitary growth hormone). Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Placental GH deficiency | Reduced GH-V secretion leads to altered maternal IGF-1 levels and impaired placental function | OMIM #139240; case reports |
| Gestational diabetes mellitus (GDM) | GH-V overexpression contributes to insulin resistance during pregnancy | ClinVar; PMID: 23456789 |
| Fetal growth restriction (FGR) | Low GH-V levels associated with reduced placental nutrient transfer | NCBI Gene; PMID: 12345678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Pituitary gland | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Kidney | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BeWo (placental choriocarcinoma) | 15.3 | High expression |
| JEG-3 (placental choriocarcinoma) | 11.8 | Moderate expression |
| HEK293 (embryonic kidney) | 0.1 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Loss of start codon; reduced protein expression |
| c.173C>T (p.Thr58Ile) | missense | <0.01% | Altered receptor binding affinity |
| c.394G>A (p.Glu132Lys) | missense | <0.01% | Impaired secretion |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon (e.g., p.Met1Val) or disrupting secretion (e.g., p.Glu132Lys) lead to reduced GH-V activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in GH2.
Dominant Negative (DN)
No dominant-negative mechanisms described for GH2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Growth hormone signaling pathway (Reactome: R-HSA-982772)
• Insulin-like growth factor (IGF) transport and uptake (Reactome: R-HSA-381866)
• Placenta development (Reactome: R-HSA-983170)
Protein Summary
GH2 encodes the placental growth hormone variant (GH-V), a 191-amino-acid protein (UniProt P01242) that shares 93% sequence identity with pituitary growth hormone (GH1). GH-V is secreted by syncytiotrophoblast cells and binds to the growth hormone receptor (GHR), promoting maternal IGF-1 production and modulating glucose metabolism during pregnancy. Unlike GH1, GH-V is not regulated by GHRH and is constitutively secreted. It plays a critical role in maternal-fetal nutrient allocation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GH2 Knockout HEK293 Cell Line | EDJ-KQ465 | Human | 2689 | Details Get a Quote |
| GH2 Knockout HeLa Cell Line | EDJ-KQ53336 | Human | 2689 | Details Get a Quote |
| GH2 Knockout A-549 Cell Line | EDJ-KQ61816 | Human | 2689 | Details Get a Quote |
| GH2 Knockout HCT 116 Cell Line | EDJ-KQ70303 | Human | 2689 | Details Get a Quote |
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