Gene Gene information from NCBI Gene database.
Entrez ID 2688
Gene name Growth hormone 1
Gene symbol GH1
Synonyms (NCBI Gene)
GHGH-NGHB5GHNIGHD1AIGHD1BIGHD2hGH-N
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
SNPs SNP information provided by dbSNP.
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.
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 Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139250 4261 ENSG00000259384
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
139
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ateleiotic dwarfism Likely pathogenic; Pathogenic rs1907478805, rs1907472729, rs137853219, rs2509253023, rs71640277 RCV005860212
RCV000017332
RCV000017333
RCV000017335
RCV002504799
Autosomal dominant isolated somatotropin deficiency Likely pathogenic; Pathogenic rs1567803095, rs2509250234, rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs2509250570, rs137853223, rs2144739380, rs2144739391, rs754126557 RCV002279179
RCV003455852
RCV000017338
RCV000017340
RCV000017341
RCV000017342
RCV000017343
RCV000017345
RCV000017347
RCV000017349
RCV000017350
RCV000017352
RCV000017353
RCV000017354
RCV000017355
RCV001293731
GH1-related disorder Likely pathogenic; Pathogenic rs2144739391 RCV003894809
Idiopathic growth hormone deficiency Pathogenic; Likely pathogenic rs863223307, rs2509251319 RCV004700243
RCV003988556
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Decreased response to growth hormone stimulation test Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs61735359, rs61735357, rs370785603, rs5388, rs151263636, rs2001345, rs200503313, rs71640274, rs754207595, rs754099689, rs6175, rs759813905, rs377600944, rs61762498, rs140576665
View all (29 more)
RCV001122918
RCV001122917
RCV001128610
RCV001128609
RCV000363532
RCV001126654
RCV000312365
RCV000398141
RCV000266675
RCV000265811
RCV000318527
RCV000390799
RCV000294515
RCV000351723
RCV000324175
RCV000364589
RCV000306584
RCV000357936
RCV001126653
RCV001123896
RCV001128608
RCV001126544
RCV001123897
RCV001126543
RCV001126545
RCV001126546
RCV001126547
RCV001126548
RCV001128611
RCV001128612
RCV001128613
RCV001128614
RCV001122914
RCV001122916
RCV001123980
RCV001123981
RCV001123982
RCV001123983
RCV001123984
RCV001126655
RCV001126656
RCV001126657
RCV001122913
RCV001122915
Isolated congenital growth hormone deficiency Uncertain significance; Benign; Likely benign rs886053236, rs695, rs6171 RCV000398146
RCV000302385
RCV000343147
RCV000399451
Associations from Text MiningDisease 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