ENSG00000039139
Homo sapiens | |
Features
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)
| IPR003593 | AAA+ ATPase domain | | IPR004273 | Dynein heavy chain domain | | IPR011704 | ATPase, dynein-related, AAA domain | | IPR013594 | Dynein heavy chain, domain-1 | | IPR013602 | Dynein heavy chain, domain-2 | | IPR024317 | Dynein heavy chain, AAA module D4 | | IPR024743 | Dynein heavy chain, coiled coil stalk | | IPR026983 | Dynein heavy chain | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR035699 | Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1 | | IPR035706 | Dynein heavy chain, ATP-binding dynein motor region D5 |
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:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| | HP:0002205 | Recurrent respiratory infections | |
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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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Interacting proteins (from Reactome)
No match
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