HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSH1
chorionic somatomammotropin hormone 1
Chromosome 17 · 17q23.3
NCBI Gene: 1442Ensembl: ENSG00000136488.15HGNC: HGNC:2440UniProt: A8K6C2
91PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingvesicleendoplasmic reticulumresponse to nutrient levelsMiyoshi myopathymultiple myelomaneoplasmoral squamous cell carcinoma
✦AI Summary

CSH1 (chorionic somatomammotropin hormone 1) is a pregnancy-specific hormone produced exclusively by placental trophoblastic cells that plays critical roles in fetal growth, metabolism, and lactation stimulation 1. Unlike growth hormone, CSH1 activates only the prolactin receptor (PRLR) through zinc-induced dimerization, not the growth hormone receptor [UniProt]. CSH1 expression is regulated by a stress-responsive signaling cascade involving MAPK8/9-dependent upregulation of transcription factors EOMES and HAND1, as well as PRKAA1/2-dependent downregulation of ID2 2. CSH1 haploinsufficiency appears clinically relevant to growth regulation, with heterozygous deletions detected in Silver-Russell syndrome patients and isolated growth retardation cases at higher frequency than in controls 3. Placental CSH1 expression is significantly altered in gestational diabetes, with distinct expression signatures differentiating gestational diabetes subtypes A1 and A2 from type 2 diabetes and healthy pregnancies 4. Additionally, CSH1 has emerged as a Breg-related gene in bladder cancer, where CSH1 knockdown in B cells increases regulatory B cell phenotype and immunosuppressive function against CD8+ T cells 5. At the molecular level, CSH1 is dynamically expressed in syncytiotrophoblast nuclear subtypes and is downregulated following RYBP chr17 remodeler knockout 6.

Sources cited
1
CSH1 is a placental gene expressed during pregnancy, part of the GH gene cluster on 17q24.2
PMID: 24642386
2
CSH1 expression is induced by cellular stress via MAPK8/9 and PRKAA1/2-dependent regulation of transcription factors EOMES, HAND1, and ID2
PMID: 21710638
3
CSH1 hemizygous deletions are associated with Silver-Russell syndrome and growth retardation, suggesting CSH1 haploinsufficiency contributes to growth disorders
PMID: 14642004
4
CSH1 is a differentially expressed marker gene in placental tissue from gestational diabetes subtype A1, A2, and type 2 diabetes pregnancies
PMID: 38763341
5
CSH1 is a Breg-related gene; CSH1 knockdown in B cells increases regulatory B cell phenotype and suppressive function against CD8+ T cells
PMID: 38566204
6
CSH1 is expressed in syncytiotrophoblast nuclear subtypes and is downregulated following RYBP chromatin remodeler knockout
PMID: 40424181
Disease Associationsⓘ20
Miyoshi myopathyOpen Targets
0.10Weak
multiple myelomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
intracranial hemorrhageOpen Targets
0.06Suggestive
PituicytomaOpen Targets
0.06Suggestive
isolated growth hormone deficiency, type 4Open Targets
0.05Suggestive
Non-acquired isolated growth hormone deficiencyOpen Targets
0.05Suggestive
Pituitary Gland AdenomaOpen 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
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
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GHRLProtein interaction99%IGF1Protein interaction99%EPOProtein interaction99%JAK2Protein interaction99%THPOProtein interaction98%POMCProtein interaction97%
Tissue Expression6 tissues
Brain
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CSH1GHRLIGF1EPOJAK2THPOPOMC
PROTEIN STRUCTURE
Preparing viewer…
PDB1Z7C · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.67 [0.39–1.21]
RankingsWhere CSH1 stands among ~20K protein-coding genes
  • #5,240of 20,598
    Most Researched91
  • #12,754of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedCSH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Discrete placental gene expression signatures accompany diabetic disease classifications during pregnancy.
PMID: 38763341
Am J Obstet Gynecol · 2025
1.00
2
Investigating the impact of regulatory B cells and regulatory B cell-related genes on bladder cancer progression and immunotherapeutic sensitivity.
PMID: 38566204
J Exp Clin Cancer Res · 2024
0.90
3
Do placental genes affect maternal breast cancer? Association between offspring's CGB5 and CSH1 gene variants and maternal breast cancer risk.
PMID: 19047151
Cancer Res · 2008
0.80
4
Comparative analysis of the syncytiotrophoblast in placenta tissue and trophoblast organoids using snRNA sequencing.
PMID: 40424181
Elife · 2025
0.70
5
Proteomic profile of Candida albicans biofilm.
PMID: 35728770
J Proteomics · 2022
0.60