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Aliases for CCDC65 Gene

Aliases for CCDC65 Gene

  • Coiled-Coil Domain Containing 65 2 3 5
  • Testis Development Protein NYD-SP28 3 4
  • Coiled-Coil Domain-Containing Protein 65 3
  • NYD-SP28 3
  • CFAP250 3
  • FAP250 3
  • DRC2 3

External Ids for CCDC65 Gene

Previous GeneCards Identifiers for CCDC65 Gene

  • GC12P047585
  • GC12P049297
  • GC12P046329

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 Primary Ciliary Dyskinesia27: Ccdc65-Related Primary Ciliary Dyskinesia.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC65 Gene

Genomics for CCDC65 Gene

Regulatory Elements for CCDC65 Gene

Enhancers for CCDC65 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G048956 1.1 ENCODE 15.3 +52.7 52709 3.0 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 DDX23 CCNT1 KANSL2 LOC390314 CCDC184 CCDC65 BCDIN3D-AS1 ADCY6 OR5BK1P FAIM2
GH12G048903 1.1 ENCODE 15 -0.2 -249 1.6 PKNOX1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF302 ZNF143 ZNF416 PRPF40B KANSL2 CCDC184 SENP1 CCNT1 BCDIN3D-AS1 LOC390314 ENSG00000257964 LOC100422296 FAM186B
GH12G049055 1.8 FANTOM5 ENCODE dbSUPER 8.1 +154.4 154393 6.7 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 DDX23 LOC390314 CCNT1 KANSL2 SENP1 PRPF40B DDN LOC100422296 LOC101927267 CCDC184
GH12G048967 1.3 Ensembl ENCODE 10.6 +65.9 65926 4.2 FOXA2 PKNOX1 SIN3A ZNF2 GATA2 KLF7 FOS ZNF263 SP3 JUNB FKBP11 CCDC65 WNT10B GC12P048969
GH12G048923 0.9 ENCODE 14.8 +20.8 20816 2.8 WRNIP1 ZFP64 SIN3A ZNF143 ZNF202 SP3 REST ZNF623 ZNF518A ZNF292 SENP1 LOC390314 CCNT1 KANSL2 DDX23 FAM186B FKBP11 CCDC65 ENSG00000257964 CCDC184
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC65 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC65 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051543 -10 601 PKNOX1 ATF1 AGO1 ZFP64 ARID4B SIN3A GLIS2 ZNF143 KLF7 SP3

Genomic Location for CCDC65 Gene

Chromosome:
12
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

Genes around CCDC65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for CCDC65 Gene

Gene Families for CCDC65 Gene

Protein Domains for CCDC65 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC65 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXS2

UniProtKB/Swiss-Prot:

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

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.
genes like me logo Genes that share phenotypes with CCDC65: view

Human Phenotype Ontology for CCDC65 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for CCDC65 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC65 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC65 Gene

Pathways & Interactions for CCDC65 Gene

SuperPathways for CCDC65 Gene

No Data Available

Interacting Proteins for CCDC65 Gene

Selected Interacting proteins: Q8IXS2-CCD65_HUMAN for CCDC65 Gene via IID

Symbol External ID(s) Details
NKX6-1

Gene Ontology (GO) - Biological Process for CCDC65 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC65 Gene

Drugs & Compounds for CCDC65 Gene

No Compound Related Data Available

Transcripts for CCDC65 Gene

mRNA/cDNA for CCDC65 Gene

(2) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x11.8).

Protein differential expression in normal tissues from HIPED for CCDC65 Gene

This gene is overexpressed in Pancreatic juice (60.3) and Fetal heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC65 Gene



Protein tissue co-expression partners for CCDC65 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC65 Gene:

CCDC65

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).

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC65 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with CCDC65: view

Primer Products

No data available for Evidence on tissue expression from TISSUES for CCDC65 Gene

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 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia CCDC65 34 35
  • 89.44 (n)
cow
(Bos Taurus)
Mammalia CCDC65 34 35
  • 88.71 (n)
mouse
(Mus musculus)
Mammalia Ccdc65 34 16 35
  • 81.65 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc65 34
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC65 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC65 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC65 35
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC65 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc65 34
  • 62.54 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc65 34 35
  • 53.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30259 34 35
  • 43.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.806 34
Species where no ortholog for CCDC65 was found in the sources mined by GeneCards:
  • 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
rs863223325 Pathogenic 48,918,754(+) GGTAT(-/AT)CCGTA reference, frameshift-variant
rs151189508 Uncertain significance 48,917,047(+) CTATA(C/T)AGATT reference, missense
rs201888145 Uncertain significance 48,914,444(+) GTACG(C/T)CCATG reference, missense, utr-variant-5-prime
rs146370108 Benign 48,918,911(+) AACAC(-/AG)GGGAG intron-variant
rs192209412 Benign 48,921,160(+) ACTCC(A/C)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832404 CNV gain 17160897
nsv983320 CNV duplication 23825009

Variation tolerance for CCDC65 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.66; 94.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC65 Gene

Human Gene Mutation Database (HGMD)
CCDC65
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC65

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC65 Gene

Disorders for CCDC65 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCDC65 Gene - From: OMIM, GeneTests, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CCDC65

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC65
genes like me logo Genes that share disorders with CCDC65: view

No data available for Genatlas for CCDC65 Gene

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 64
  2. 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 64
  3. Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella. (PMID: 21700706) Lin J. … Nicastro D. (J. Biol. Chem. 2011) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. (PMID: 23991085) Horani A. … Kerem E. (PLoS ONE 2013) 3 64

Products for CCDC65 Gene

Sources for CCDC65 Gene

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