GH1 (growth hormone 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2688
Gene name Gene Name - the full gene name approved by the HGNC.
Growth hormone 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GH1
Synonyms (NCBI Gene) Gene synonyms aliases
GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs111957225 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs137853219 C>T Pathogenic Coding sequence variant, stop gained
rs140576665 G>A,C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT1018380 hsa-miR-3150a-3p CLIP-seq
MIRT1018381 hsa-miR-3175 CLIP-seq
MIRT1018382 hsa-miR-4640-5p CLIP-seq
MIRT1018383 hsa-miR-4667-5p CLIP-seq
MIRT1018384 hsa-miR-4700-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
HNF4A Repression 17991764
POU1F1 Activation 16061841;7529501
POU1F1 Unknown 11081207;11874696;15998782;17456792;7608249;7877625;9207961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(50)
GO ID Ontology Definition Evidence Reference
GO:0002092 Process Positive regulation of receptor internalization IDA 9360546
GO:0005125 Function Cytokine activity IDA 7782332
GO:0005131 Function Growth hormone receptor binding IBA
GO:0005131 Function Growth hormone receptor binding IDA 6303755, 8063815
GO:0005131 Function Growth hormone receptor binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
139250 4261 ENSG00000259384
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P01241
Protein name Somatotropin (Growth hormone) (GH) (GH-N) (Growth hormone 1) (Pituitary 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
PDB 1A22 , 1AXI , 1BP3 , 1HGU , 1HUW , 1HWG , 1HWH , 1KF9 , 3HHR , 6QIO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00103 Hormone_1 9 → 215 Somatotropin hormone family Domain
Sequence
Sequence length 217
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action 		  Prolactin receptor signaling
Synthesis, secretion, and deacylation of Ghrelin
Growth hormone receptor signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Isolated Growth Hormone Deficiency isolated growth hormone deficiency type ib rs863223308, rs797044449 N/A
Isolated Somatotropin Deficiency Autosomal dominant isolated somatotropin deficiency rs2144739370, rs863223309, rs863223310, rs797044450, rs137853223, rs71640277, rs2144739380, rs863223306, rs2144739391, rs2144738731, rs863223307 N/A
Kowarski syndrome short stature due to growth hormone qualitative anomaly rs137853222, rs137853220, rs137853221 N/A
Show/Hide Text Mining Associations (231)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 28768959
Abnormalities Drug Induced Inhibit 7670563
Abortion Spontaneous Associate 36950683
Achondroplasia Associate 12733711, 16618986, 27147792
Acromegaly Stimulate 11404775, 26863932, 27503591, 28002537, 29266696, 30742299, 30843342, 31771524, 33019423, 34027406, 34282806
Acromegaly Associate 15761655, 16126556, 17242703, 18840925, 19293545, 19637311, 2118540, 23640965, 23648743, 25470569, 27070751, 27403655, 27982199, 31189769, 32079542
View all (7 more)
ACTH Secreting Pituitary Adenoma Associate 15118275, 23648743
Adenoma Associate 14762579, 2273209, 30684245, 33010004, 34334589, 34530798
Adenoma Islet Cell Stimulate 6243140
Adrenal Hyperplasia Congenital Associate 28126912