ENSG00000152642
Homo sapiens | |
Features
| Gene ID: | ENSG00000152642 | | | | | Biological name : | GPD1L | | | | | Synonyms : | glycerol-3-phosphate dehydrogenase 1 like / GPD1L / Q8N335 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | 1 | | Band: | p22.3 | | Gene start: | 32105689 | | Gene end: | 32168713 | | | | | Corresponding Affymetrix probe sets: | 212510_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000282541
Ensembl peptide - ENSP00000416518
Ensembl peptide - ENSP00000408770
Ensembl peptide - ENSP00000393861
Ensembl peptide - ENSP00000392199
NCBI entrez gene - 23171
See in Manteia.
OMIM - 611778
RefSeq - NM_015141
RefSeq - XM_006713068
RefSeq Peptide - NP_055956
swissprot - Q8N335
swissprot - F8WC16
swissprot - C9JM46
swissprot - C9JFA7
swissprot - C9K0P5
Ensembl - ENSG00000152642
| | | | | Related genetic diseases (OMIM): | 611777 - Brugada syndrome 2, 611777 |
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)
| IPR006109 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal | | IPR006168 | Glycerol-3-phosphate dehydrogenase, NAD-dependent | | IPR008927 | 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily | | IPR011128 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal | | IPR013328 | 6-phosphogluconate dehydrogenase, domain 2 | | IPR017751 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic | | IPR036291 | NAD(P)-binding domain superfamily |
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:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| | HP:0001645 | Sudden cardiac death | |
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| | HP:0001663 | Ventricular fibrillation | |
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| | HP:0011705 | First degree atrioventricular block | "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [DDD:dbrown, HPO:probinson] |
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| | HP:0011712 | Right bundle branch block | "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] |
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| | HP:0012248 | Prolonged PR interval | "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000152642 | GPD1L / Q8N335 / glycerol-3-phosphate dehydrogenase 1 like | / complex |
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