GH2 (growth hormone 2)

Gene

• Entrez ID: 2689
• Gene name: Growth hormone 2
• Gene symbol: GH2
• Synonyms (NCBI Gene): GH-V, GHB2, GHL, GHV, hGH-V
• Chromosome: 17
• Chromosome location: 17q23.3
• Summary: 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

Transcription factors

Transcription factor	Regulation	Reference
FOXF1	Activation	16772323
POU1F1	Activation	7608249
SP1	Unknown	1427648

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005131	Function	Growth hormone receptor binding	IEA
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IEA
GO:0005179	Function	Hormone activity	TAS	8943276
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0031667	Process	Response to nutrient levels	IBA
GO:0031904	Component	Endosome lumen	TAS
GO:0031982	Component	Vesicle	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0048513	Process	Animal organ development	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA

Other IDs

• MIM: 139240
• HGNC: 4262
• e!Ensembl: ENSG00000136487

Protein

• UniProt ID: P01242
• Protein name: Growth hormone variant (GH-V) (Growth hormone 2) (Placenta-specific growth hormone)
• Protein function: Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino aci
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00103	Hormone_1	9 → 215	Somatotropin hormone family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the placenta.
• Sequence:

  MAAGSRTSLLLAFGLLCLSWLQEGSAFPTIPLSRLFDNAMLRARRLYQLAYDTYQEFEEA
  YILKEQKYSFLQNPQTSLCFSESIPTPSNRVKTQQKSNLELLRISLLLIQSWLEPVQLLR
  SVFANSLVYGASDSNVYRHLKDLEEGIQTLMWRLEDGSPRTGQIFNQSYSKFDTKSHNDD
  ALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF

• Sequence length: 217

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Reactome:

Prolactin receptor signaling
Growth hormone receptor signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SILVER-RUSSELL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	3818895		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	16772323, 1708334, 8472847		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	22387044	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10778862		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29452885		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2298178		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10534168		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23782703		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	31148391		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	1922020, 2298178		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	CTD_human_DG	14642004		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	10534168		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37350375	Associate	★☆☆☆☆ Found in Text Mining only