ENSG00000123454
Homo sapiens | |
Features
| Gene ID: | ENSG00000123454 | | | | | Biological name : | DBH | | | | | Synonyms : | DBH / dopamine beta-hydroxylase / P09172 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | 1 | | Band: | q34.2 | | Gene start: | 133636360 | | Gene end: | 133659344 | | | | | Corresponding Affymetrix probe sets: | 206450_at (Human Genome U133 Plus 2.0 Array) 234916_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000263611
Ensembl peptide - ENSP00000376776
NCBI entrez gene - 1621
See in Manteia.
OMIM - 609312
RefSeq - NM_000787
RefSeq Peptide - NP_000778
swissprot - P09172
swissprot - Q5T382
Ensembl - ENSG00000123454
| | | | | Related genetic diseases (OMIM): | 223360 - Dopamine beta-hydroxylase deficiency, 223360 | | | 609312 - [Dopamine-beta-hydroxylase activity levels, plasma] |
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)
| IPR000323 | Copper type II, ascorbate-dependent monooxygenase, N-terminal | | IPR005018 | DOMON domain | | IPR008977 | PHM/PNGase F domain superfamily | | IPR014783 | Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-2 conserved site | | IPR014784 | Copper type II, ascorbate-dependent monooxygenase-like, C-terminal | | IPR020611 | Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-1 conserved site | | IPR024548 | Copper type II ascorbate-dependent monooxygenase, C-terminal | | IPR028460 | Tyramine beta-hydroxylase/Dopamine beta-hydroxylase | | IPR036939 | Copper type II, ascorbate-dependent monooxygenase, N-terminal domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
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:0000017 | Nocturia | "Abnormaly increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] |
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| | HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| | HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001278 | Orthostatic hypotension | "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators] |
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| | HP:0001998 | Neonatal hypoglycemia | |
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| | HP:0005964 | Intermittent hypothermia | |
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| | HP:0012877 | Retrograde ejaculation | "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [HPO:probinson] |
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Interacting proteins (from Reactome)
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