• Gene id: 2689

Gene Summary

• Gene Symbol: GH2   Gene   UCSC   Ensembl
• Aliases: GH-V, GHB2, GHL, GHV, hGH-V
• Gene name: growth hormone 2
• Alternate names: growth hormone variant, growth hormone B2, placenta-specific growth hormone, placental-specific growth hormone,
• Gene location: 17q23.3 (63881943: 63880214)     Exons: 5     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 139240

Protein Summary

• Protein general information: P01242  
  • Name: Growth hormone variant (GH V) (Growth hormone 2) (Placenta specific growth hormone)
  • Length: 217  
  • Mass: 25000
  • Tissue specificity: Expressed in the placenta.
• Sequence:

  MAAGSRTSLLLAFGLLCLSWLQEGSAFPTIPLSRLFDNAMLRARRLYQLAYDTYQEFEEAYILKEQKYSFLQNPQ
  TSLCFSESIPTPSNRVKTQQKSNLELLRISLLLIQSWLEPVQLLRSVFANSLVYGASDSNVYRHLKDLEEGIQTL
  MWRLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF

• Structural information:
  • Interpro: IPR009079  IPR001400  IPR018116  
  • Prosite: PS00266 PS00338
• Other Databases: GeneCards:  GH2  Malacards:  GH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060396	growth hormone receptor signaling pathway	IBA	biological process
GO:0048513	animal organ development	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005131	growth hormone receptor binding	IBA	molecular function
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0045927	positive regulation of growth	IBA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0031667	response to nutrient levels	IBA	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0005179	hormone activity	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005179	hormone activity	IEA	molecular function
GO:0005179	hormone activity	TAS	molecular function
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04935	Growth hormone synthesis, secretion and action

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)