CEP78

Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.^[5][6]

CEP78
Identifiers
Aliases	CEP78, C9orf81, IP63, centrosomal protein 78, CRDHL
External IDs	OMIM: 617110; MGI: 1924386; HomoloGene: 11030; GeneCards: CEP78; OMA:CEP78 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.2 Start 78,236,062 bp[1] End 78,279,690 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A Start 15,933,137 bp[2] End 15,962,353 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte buccal mucosa cell ventricular zone pancreatic ductal cell gonad ganglionic eminence testicle granulocyte right testis bronchial epithelial cell Top expressed in spermatocyte hand ventricular zone tail of embryo epiblast secondary oocyte zygote neural tube genital tubercle primary oocyte More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 84131 208518 Ensembl ENSG00000148019 ENSMUSG00000041491 UniProt Q5JTW2 Q6IRU7 RefSeq (mRNA) NM_001098802 NM_032171 NM_001330691 NM_001330693 NM_001330694 NM_001349838 NM_001349839 NM_001349840 NM_198019 RefSeq (protein) NP_001092272 NP_001317620 NP_001317622 NP_001317623 NP_115547 NP_001336767 NP_001336768 NP_001336769 NP_932136 Location (UCSC) Chr 9: 78.24 – 78.28 Mb Chr 19: 15.93 – 15.96 Mb PubMed search [3] [4]
Wikidata
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Clinical

Mutations in this gene have been associated with cone-rod dystrophy with hearing loss.^[7]