ENSG00000259384
Homo sapiens | |
Features
| Gene ID: | ENSG00000259384 | | | | | Biological name : | GH1 | | | | | Synonyms : | GH1 / growth hormone 1 / P01241 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 17 | | Strand: | -1 | | Band: | q23.3 | | Gene start: | 63917200 | | Gene end: | 63918838 | | | | | Corresponding Affymetrix probe sets: | 205840_x_at (Human Genome U133 Plus 2.0 Array) 206885_x_at (Human Genome U133 Plus 2.0 Array) 206886_x_at (Human Genome U133 Plus 2.0 Array) 208068_x_at (Human Genome U133 Plus 2.0 Array) 208069_x_at (Human Genome U133 Plus 2.0 Array) 211151_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000312673
Ensembl peptide - ENSP00000481276
Ensembl peptide - ENSP00000408486
Ensembl peptide - ENSP00000343791
Ensembl peptide - ENSP00000339278
NCBI entrez gene - 2688
See in Manteia.
OMIM - 139250
RefSeq - NM_022560
RefSeq - NM_000515
RefSeq - NM_022559
RefSeq Peptide - NP_000506
RefSeq Peptide - NP_072053
RefSeq Peptide - NP_072054
swissprot - P01241
swissprot - B1A4G9
swissprot - B1A4G7
swissprot - B1A4G6
swissprot - B1A4H0
Ensembl - ENSG00000259384
| | | | | Related genetic diseases (OMIM): | 173100 - Growth hormone deficiency, isolated, type II, 173100 | | | 262400 - Growth hormone deficiency, isolated, type IA, 262400 | | | 262650 - Kowarski syndrome, 262650 | | | 612781 - Growth hormone deficiency, isolated, type IB, 612781 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000271 | Abnormality of the face | |
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| | HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| | HP:0000839 | Pituitary dwarfism | "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:curators] |
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| | HP:0001939 | Metabolism abnormality | |
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| | HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| | HP:0002715 | Immunological abnormality | |
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| | HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| | HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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Interacting proteins (from Reactome)
| ENSG00000100387 | RBX1 / P62877 / ring-box 1 | / complex / reaction | | ENSG00000112964 | GHR / P10912 / growth hormone receptor | / complex / reaction | | ENSG00000113494 | PRLR / P16471 / prolactin receptor | / complex / reaction | | ENSG00000168610 | STAT3 / P40763 / signal transducer and activator of transcription 3 | / complex / reaction | | ENSG00000172179 | PRL / P01236 / prolactin | / complex | | ENSG00000120833 | SOCS2 / O14508 / suppressor of cytokine signaling 2 | / complex / reaction | | ENSG00000055130 | CUL1 / Q13616 / cullin 1 | / complex / reaction | | ENSG00000173757 | P51692 / STAT5B / signal transducer and activator of transcription 5B | / complex / reaction | | ENSG00000259384 | GH1 / P01241 / growth hormone 1 | / - / complex | | ENSG00000136487 | GH2 / P01242 / growth hormone 2 | / complex / - | | ENSG00000136488 | CSH1 / P0DML2 / chorionic somatomammotropin hormone 1 | / complex | | ENSG00000178188 | SH2B1 / Q9NRF2 / SH2B adaptor protein 1 | / complex / reaction | | ENSG00000179295 | PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11 | / complex / reaction | | ENSG00000126561 | P42229 / STAT5A / signal transducer and activator of transcription 5A | / complex / reaction | | ENSG00000096968 | JAK2 / O60674 / Janus kinase 2 | / complex / reaction | | ENSG00000254087 | LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase | / complex / reaction | | ENSG00000184557 | SOCS3 / O14543 / suppressor of cytokine signaling 3 | / complex / reaction | | ENSG00000111679 | PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6 | / complex / reaction | | ENSG00000185338 | SOCS1 / O15524 / suppressor of cytokine signaling 1 | / complex / reaction | | ENSG00000113558 | SKP1 / P63208 / S-phase kinase associated protein 1 | / complex / reaction | | ENSG00000114737 | CISH / Q9NSE2 / cytokine inducible SH2 containing protein | / complex / reaction | | ENSG00000115415 | STAT1 / P42224 / signal transducer and activator of transcription 1 | / complex / reaction | | ENSG00000166167 | BTRC / Q9Y297 / beta-transducin repeat containing E3 ubiquitin protein ligase | / complex / reaction | | ENSG00000196396 | PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1 | / complex / reaction |
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