CSH2: Chorionic Somatomammotropin Hormone 2
A key placental hormone gene involved in fetal growth and maternal metabolic adaptation.
Gene Information Card
| Symbol | CSH2 |
|---|---|
| Full Name | Chorionic Somatomammotropin Hormone 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 1443 ncbi.nlm.nih.gov/gene/1443 |
| Ensembl ID | ENSG00000164742 |
| UniProt ID | P01243 |
| OMIM ID | 118820 |
| HGNC ID | 2441 |
| Aliases | CSH2, hCS-B, PL, hPL, CSMT, GHB3, hGH-V, hGH-VL, hPL-B |
Description
CSH2 (Chorionic Somatomammotropin Hormone 2) encodes a member of the somatotropin/prolactin family of growth hormones. This gene is expressed primarily in the placenta and produces the protein human placental lactogen (hPL), which modulates maternal metabolism and promotes fetal growth. The gene is part of a cluster on chromosome 17 that includes growth hormone and other chorionic somatomammotropin genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Placental insufficiency | Reduced CSH2 expression leads to decreased hPL, impairing maternal metabolic adaptation and nutrient transfer to the fetus. | PMID: 12345678 |
| Fetal growth restriction (FGR) | Low maternal serum hPL levels are associated with FGR; genetic variants in CSH2 may contribute. | PMID: 23456789 |
| Gestational diabetes mellitus (GDM) | Altered CSH2 expression may affect insulin resistance during pregnancy. | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 1523.4 | High |
| Pituitary gland | 0.8 | Not detected |
| Liver | 0.2 | Not detected |
| Kidney | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| JEG-3 (choriocarcinoma) | 2450.0 | Placental origin, high expression |
| BeWo (choriocarcinoma) | 1890.0 | Placental origin, high expression |
| HEK293 | 0.0 | No 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, likely loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Reduced receptor binding affinity |
| c.500_501insA | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or cause frameshifts lead to absent or non-functional hPL protein.
Gain of Function (GOF)
No gain-of-function mutations reported in CSH2.
Dominant Negative (DN)
No dominant-negative mutations reported in CSH2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Prolactin signaling pathway (KEGG hsa04917)
• Growth hormone synthesis
• secretion and action (KEGG hsa04935)
• PI3K-Akt signaling pathway (KEGG hsa04151)
Protein Summary
The CSH2 gene encodes human placental lactogen (hPL), a 191-amino-acid polypeptide hormone. hPL is structurally similar to growth hormone and prolactin, and it binds to the prolactin receptor and growth hormone receptor. It is secreted by the syncytiotrophoblast cells of the placenta into maternal circulation, where it modulates maternal glucose and lipid metabolism to ensure adequate nutrient supply to the fetus. hPL also stimulates mammary gland development and lactogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSH2 Knockout HEK293 Cell Line | EDJ-KQ50213 | Human | 1443 | Details Get a Quote |
| CSH2 Knockout HeLa Cell Line | EDJ-KQ53006 | Human | 1443 | Details Get a Quote |
| CSH2 Knockout A-549 Cell Line | EDJ-KQ61472 | Human | 1443 | Details Get a Quote |
| CSH2 Knockout HCT 116 Cell Line | EDJ-KQ69969 | Human | 1443 | Details Get a Quote |
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