full name
growth hormone 1

synonyms
GH, GH-N, GHN, hGH-N, IGHD1B, GH1, ENSG00000259384

HGNC
HGNC:4261

Entrez Gene
Gene:2688

ENSEMBL
ENSG00000259384

location
chr: 17
start: 61994560
stop: 61996206
strand: -

OMIM
OMIM:139250: GH1 (Autosomal recessive inheritance)
OMIM:262400: Growth hormone deficiency, isolated, type IA
OMIM:612781: Growth hormone deficiency, isolated, type IB
OMIM:173100: Growth hormone deficiency, isolated, type II
OMIM:262650: Kowarski syndrome

transcripts
NM_022562.2
NM_022561.2
NM_022560.2
NM_022559.2
NM_000515.3

pathways
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
Cytokine-cytokine receptor interaction [NCBI:83051] [KEGG:hsa04060] [PUBMED:11071910] [PUBMED:12072446] [PUBMED:7791754] [PUBMED:15032600] [PUBMED:12651226] [PUBMED:11252892] [PUBMED:11796220] [PUBMED:11312110] [PUBMED:9862719] [PUBMED:12421671] [PUBMED:12039028] [PUBMED:9759503] [PUBMED:9395284] [PUBMED:11166270] [PUBMED:10714678] [PUBMED:12651221]
Growth hormone receptor signaling [NCBI:1269327] [REACTOME:R-HSA-982772] [PUBMED:15601831] [PUBMED:8548048] [PUBMED:17488973] [PUBMED:20664532]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Jak-STAT signaling pathway [NCBI:83077] [KEGG:hsa04630] [PUBMED:21034406] [PUBMED:22339650] [PUBMED:16204702] [PUBMED:25587654] [PUBMED:24069565] [PUBMED:22383755] [PUBMED:24606160] [PUBMED:10851053] [PUBMED:23735217] [PUBMED:25217450] [PUBMED:21372217]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Neuroactive ligand-receptor interaction [NCBI:83053] [KEGG:hsa04080]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Peptide hormone metabolism [NCBI:1268746] [REACTOME:R-HSA-2980736] [PUBMED:2663045] [PUBMED:21805235]
Prolactin receptor signaling [NCBI:1269328] [REACTOME:R-HSA-1170546] [PUBMED:9626554] [PUBMED:11356125] [PUBMED:11826263]
Synthesis, secretion, and deacylation of Ghrelin [NCBI:1268748] [REACTOME:R-HSA-422085] [PUBMED:19280057] [PUBMED:18396350]