ENSG00000101400
Homo sapiens | |
Features
| Gene ID: | ENSG00000101400 | | | | | Biological name : | SNTA1 | | | | | Synonyms : | Q13424 / SNTA1 / syntrophin alpha 1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 20 | | Strand: | -1 | | Band: | q11.21 | | Gene start: | 33407955 | | Gene end: | 33443892 | | | | | Corresponding Affymetrix probe sets: | 203516_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000217381
NCBI entrez gene - 6640
See in Manteia.
OMIM - 601017
RefSeq - XM_011529008
RefSeq - NM_003098
RefSeq - XM_005260517
RefSeq - XM_011529007
RefSeq Peptide - NP_003089
swissprot - Q13424
Ensembl - ENSG00000101400
| | | | | Related genetic diseases (OMIM): | 612955 - Long QT syndrome 12, 612955 |
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: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:0001663 | Ventricular fibrillation | |
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| | HP:0001664 | Torsade de pointes | |
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| | HP:0005184 | Prolonged QTc interval | |
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Interacting proteins (from Reactome)
No match
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