ENSG00000152492
Homo sapiens | |
Features
| Gene ID: | ENSG00000152492 | | | | | Biological name : | CCDC50 | | | | | Synonyms : | CCDC50 / coiled-coil domain containing 50 / Q8IVM0 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | 1 | | Band: | q28 | | Gene start: | 191329077 | | Gene end: | 191398670 | | | | | Corresponding Affymetrix probe sets: | 225331_at (Human Genome U133 Plus 2.0 Array) 226713_at (Human Genome U133 Plus 2.0 Array) 228693_at (Human Genome U133 Plus 2.0 Array) 235051_at (Human Genome U133 Plus 2.0 Array) 236831_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000376249
Ensembl peptide - ENSP00000376250
NCBI entrez gene - 152137
See in Manteia.
OMIM - 611051
RefSeq - NM_174908
RefSeq - NM_178335
RefSeq Peptide - NP_777568
RefSeq Peptide - NP_848018
swissprot - Q8IVM0
Ensembl - ENSG00000152492
| | | | | Related genetic diseases (OMIM): | 607453 - ?Deafness, autosomal dominant 44, 607453 |
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)
| IPR029311 | Coiled-coil domain-containing protein 50, N-terminal |
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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
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