ENSG00000143178
Homo sapiens | |
Features
| Gene ID: | ENSG00000143178 | | | | | Biological name : | TBX19 | | | | | Synonyms : | O60806 / T-box 19 / TBX19 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | q24.2 | | Gene start: | 168281040 | | Gene end: | 168314426 | | | | | Corresponding Affymetrix probe sets: | 206838_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000390731
Ensembl peptide - ENSP00000397540
Ensembl peptide - ENSP00000356795
NCBI entrez gene - 9095
See in Manteia.
OMIM - 604614
RefSeq - NM_005149
RefSeq Peptide - NP_005140
swissprot - O60806
swissprot - H0Y4B1
swissprot - H0Y5A7
Ensembl - ENSG00000143178
| | | | | Related genetic diseases (OMIM): | 201400 - Adrenocorticotropic hormone deficiency, 201400 |
This gene has been taged as a transcription factor by TFT
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)
No match
Phenotype (from MGI, Zfin or HPO)
| 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:0000835 | Adrenal hypoplasia | |
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| | HP:0001998 | Neonatal hypoglycemia | |
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| | HP:0002173 | Seizures, hypoglycemic | |
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| | HP:0002615 | Hypotension | |
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| | HP:0002902 | Hyponatremia | |
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| | HP:0003162 | Fasting hypoglycemia | |
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| | HP:0006579 | Prolonged neonatal jaundice | |
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| | HP:0008163 | Plasma cortisol low | |
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| | HP:0011735 | Adrenocorticotropin (ACTH) deficient adrenal insufficiency | "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] |
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| | HP:0011748 | Adrenocorticotropic hormone deficiency | "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] |
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| | HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| | HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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