CCDC40 (gene)

CCDC40
Identifiers
Aliases	CCDC40, CILD15, FAP172, coiled-coil domain containing 40, CFAP172
External IDs	OMIM: 613799; MGI: 2443893; HomoloGene: 27890; GeneCards: CCDC40; OMA:CCDC40 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q25.3 Start 80,036,632 bp End 80,100,613 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E2 Start 119,119,398 bp End 119,156,064 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell sural nerve olfactory zone of nasal mucosa left testis tendon of biceps brachii anterior pituitary right testis stromal cell of endometrium left uterine tube Top expressed in choroidal fissure seminiferous tubule otolith organ olfactory epithelium utricle spermatocyte spermatid choroid plexus of fourth ventricle tail of embryo genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component cytoplasm axoneme cell projection cilium motile cilium extracellular region Biological process heart looping flagellated sperm motility determination of digestive tract left/right asymmetry epithelial cilium movement involved in extracellular fluid movement determination of pancreatic left/right asymmetry cilium movement determination of liver left/right asymmetry regulation of cilium beat frequency motile cilium assembly axonemal dynein complex assembly lung development inner dynein arm assembly epithelial cilium movement involved in determination of left/right asymmetry axoneme assembly protein localization to cilium cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55036 207607 Ensembl ENSG00000141519 ENSMUSG00000039963 UniProt Q4G0X9 Q8BI79 RefSeq (mRNA) NM_001243342 NM_017950 NM_001330508 NM_175430 NM_001364767 RefSeq (protein) NP_001230271 NP_001317437 NP_060420 NP_780639 NP_001351696 Location (UCSC) Chr 17: 80.04 – 80.1 Mb Chr 11: 119.12 – 119.16 Mb PubMed search
Wikidata
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CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

Function

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].

Further reading

• Wang J, Lin J, Chang Y, Li P, Yang Y (August 2010). "MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis". Journal of Huazhong University of Science and Technology. 30 (4): 425–9. doi:10.1007/s11596-010-0443-3. PMID 20714864.
• Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW (1993). "Primary Ciliary Dyskinesia". PMID 20301301. {{cite journal}}: Cite journal requires |journal= (help)
• Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S (June 2012). "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical Genetics. 49 (6): 410–6. doi:10.1136/jmedgenet-2012-100867. PMID 22693285.
• Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD (January 2011). "The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation". Nature Genetics. 43 (1): 79–84. doi:10.1038/ng.727. PMC 3132183. PMID 21131974.

External links

• Human CCDC40 genome location and CCDC40 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.