ENSG00000157856
Homo sapiens | |
Features
| Gene ID: | ENSG00000157856 | | | | | Biological name : | DRC1 | | | | | Synonyms : | DRC1 / dynein regulatory complex subunit 1 / Q96MC2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | 1 | | Band: | p23.3 | | Gene start: | 26401916 | | Gene end: | 26456711 | | | | | Corresponding Affymetrix probe sets: | 231133_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000288710
Ensembl peptide - ENSP00000414375
NCBI entrez gene - 92749
See in Manteia.
OMIM - 615288
RefSeq - XM_017005271
RefSeq - NM_145038
RefSeq - XM_005264637
RefSeq - XM_005264638
RefSeq Peptide - NP_659475
swissprot - F8WE02
swissprot - Q96MC2
Ensembl - ENSG00000157856
| | | | | Related genetic diseases (OMIM): | 615294 - Ciliary dyskinesia, primary, 21, 615294 |
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)
No match
Protein motifs (from Interpro)
| IPR029440 | Dynein regulatory complex protein 1, C-terminal |
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:0000403 | Recurrent otitis media | |
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| | HP:0002110 | Bronchiectasis | |
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| | HP:0002205 | Recurrent respiratory infections | |
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| | HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| | HP:0012265 | Ciliary dyskinesia | "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528] |
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| | HP:0100750 | Atelectasis | |
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Interacting proteins (from Reactome)
No match
0 s.
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