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Aliases for CCDC65 Gene

Aliases for CCDC65 Gene

  • Coiled-Coil Domain Containing 65 2 3
  • Testis Development Protein NYD-SP28 3 4
  • CILD27 3 6
  • Coiled-Coil Domain-Containing Protein 65 3
  • NYD-SP28 3
  • FAP250 3

External Ids for CCDC65 Gene

Summaries for CCDC65 Gene

Entrez Gene Summary for CCDC65 Gene

  • This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

GeneCards Summary for CCDC65 Gene

CCDC65 (Coiled-Coil Domain Containing 65) is a Protein Coding gene. Diseases associated with CCDC65 include ciliary dyskinesia, primary, 27 and clear cell sarcoma.

UniProtKB/Swiss-Prot for CCDC65 Gene

  • May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC65 Gene

Genomics for CCDC65 Gene

Genomic Location for CCDC65 Gene

Start:
48,904,110 bp from pter
End:
48,931,840 bp from pter
Size:
27,731 bases
Orientation:
Plus strand

Genomic View for CCDC65 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC65 Gene

Regulatory Elements for CCDC65 Gene

Proteins for CCDC65 Gene

  • Protein details for CCDC65 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXS2-CCD65_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 65
    Protein Accession:
    Q8IXS2
    Secondary Accessions:
    • A6NJG5
    • B2RBE2
    • Q8N7G4
    • Q8NA91
    • Q96JA0

    Protein attributes for CCDC65 Gene

    Size:
    484 amino acids
    Molecular mass:
    57297 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05324.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC65 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC65 Gene

Proteomics data for CCDC65 Gene at MOPED

Post-translational modifications for CCDC65 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC65 Gene

No data available for DME Specific Peptides for CCDC65 Gene

Domains for CCDC65 Gene

Protein Domains for CCDC65 Gene

ProtoNet:

UniProtKB/Swiss-Prot:

CCD65_HUMAN
Family:
  • Belongs to the CCDC65 family:
    • Q8IXS2
genes like me logo Genes that share domains with CCDC65: view

No data available for Gene Families for CCDC65 Gene

Function for CCDC65 Gene

Molecular function for CCDC65 Gene

UniProtKB/Swiss-Prot Function: May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex.

Phenotypes for CCDC65 Gene

GenomeRNAi human phenotypes for CCDC65:
genes like me logo Genes that share phenotypes with CCDC65: view

miRNA for CCDC65 Gene

miRTarBase miRNAs that target CCDC65

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCDC65 Gene

Localization for CCDC65 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC65 Gene COMPARTMENTS Subcellular localization image for CCDC65 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for CCDC65 Gene

Pathways for CCDC65 Gene

SuperPathways for CCDC65 Gene

No Data Available

Interacting Proteins for CCDC65 Gene

Gene Ontology (GO) - Biological Process for CCDC65 Gene

None

No data available for Pathways by source for CCDC65 Gene

Transcripts for CCDC65 Gene

mRNA/cDNA for CCDC65 Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC65 Gene

Coiled-coil domain containing 65:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC65 Gene

No ASD Table

Relevant External Links for CCDC65 Gene

GeneLoc Exon Structure for
CCDC65
ECgene alternative splicing isoforms for
CCDC65

Expression for CCDC65 Gene

mRNA expression in normal human tissues for CCDC65 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC65 Gene

This gene is overexpressed in Testis (11.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CCDC65 Gene

SOURCE GeneReport for Unigene cluster for CCDC65 Gene Hs.512805

mRNA Expression by UniProt/SwissProt for CCDC65 Gene

Q8IXS2-CCD65_HUMAN
Tissue specificity: Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level).
genes like me logo Genes that share expressions with CCDC65: view

Orthologs for CCDC65 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC65 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC65 36
  • 99.38 (n)
  • 98.76 (a)
CCDC65 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC65 36
  • 88.71 (n)
  • 85.74 (a)
CCDC65 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC65 36
  • 89.44 (n)
  • 85.92 (a)
CCDC65 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc65 36
  • 81.65 (n)
  • 83.01 (a)
Ccdc65 16
Ccdc65 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC65 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC65 37
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc65 36
  • 81.57 (n)
  • 81.7 (a)
chicken
(Gallus gallus)
Aves CCDC65 37
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC65 37
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc65 36
  • 62.54 (n)
  • 62.26 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc65 36
  • 53.23 (n)
  • 43.39 (a)
ccdc65 37
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30259 36
  • 43.15 (n)
  • 28.35 (a)
CG30259 37
  • 22 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.806 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToOne
Species with no ortholog for CCDC65:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC65 Gene

ENSEMBL:
Gene Tree for CCDC65 (if available)
TreeFam:
Gene Tree for CCDC65 (if available)

Paralogs for CCDC65 Gene

Pseudogenes.org Pseudogenes for CCDC65 Gene

genes like me logo Genes that share paralogs with CCDC65: view

No data available for Paralogs for CCDC65 Gene

Variants for CCDC65 Gene

Sequence variations from dbSNP and Humsavar for CCDC65 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs961320 -- 48,904,081(-) TAGAA(A/G)AGTCC upstream-variant-2KB
rs1318692 -- 48,904,002(-) AAAAA(C/T)CTGTC upstream-variant-2KB
rs3809147 -- 48,904,276(+) TCTAA(A/G)CTCTG utr-variant-5-prime
rs3825184 -- 48,904,557(+) CTGAC(C/T)TCCCC intron-variant
rs3926119 -- 48,903,894(+) gagcc(A/G)agatc upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CCDC65 Gene

Variant ID Type Subtype PubMed ID
nsv832404 CNV Gain 17160897

Relevant External Links for CCDC65 Gene

HapMap Linkage Disequilibrium report
CCDC65
Human Gene Mutation Database (HGMD)
CCDC65

Disorders for CCDC65 Gene

(1) OMIM Diseases for CCDC65 Gene (611088)

UniProtKB/Swiss-Prot

CCD65_HUMAN
  • Ciliary dyskinesia, primary, 27 (CILD27) [MIM:615504]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.

(1) University of Copenhagen DISEASES for CCDC65 Gene

genes like me logo Genes that share disorders with CCDC65: view

Publications for CCDC65 Gene

  1. Cloning and characterization of a novel sperm tail protein, NYD- SP28. (PMID: 17089017) Zheng Y. … Sha J.-H. (Int. J. Mol. Med. 2006) 2 3 4
  2. Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella. (PMID: 21700706) Lin J. … Nicastro D. (J. Biol. Chem. 2011) 2 3
  3. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (PMID: 24094744) Austin-Tse C. … Hildebrandt F. (Am. J. Hum. Genet. 2013) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for CCDC65 Gene

Sources for CCDC65 Gene

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