Free for academic non-profit institutions. Other users need a Commercial license

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 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.

Additional gene information for CCDC65 Gene

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

GeneHancer (GH) Regulatory Elements for CCDC65 Gene

Promoters and enhancers for CCDC65 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I048903 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 565.1 -0.2 -248 1.6 ZFP64 ARID4B SIN3A ZNF213 ZNF143 RUNX3 RXRA ZC3H11A REST ZNF623 CCDC65 RPL32P27 DDX23 KMT2D LMBR1L BCDIN3D SENP1 KANSL2 LOC390314 CCNT1
GH12I048956 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.3 +52.7 52708 3 HDGF PKNOX1 CLOCK SMAD1 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ARF3 ENSG00000272822 CCNT1 KANSL2 LMBR1L LOC390314 DDX23 KMT2D SENP1 PRPF40B
GH12I048923 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 14.8 +20.8 20816 2.8 RB1 SIN3A RAD21 ZNF143 RUNX3 SMARCA5 SP3 SMAD5 USF2 ELF1 FKBP11 CCDC65 ENSG00000255863 ENSG00000272822
GH12I048865 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.6 -37.9 -37880 2.2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 RND1 DDX23 KMT2D KANSL2 LOC390314 CCNT1 LMBR1L SENP1 BCDIN3D PRPF40B
GH12I049055 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +154.4 154393 6.7 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 GC12P049057 DDX23 LOC390314 LMBR1L CCNT1 KANSL2 KMT2D LOC100422296 SENP1 PRPF40B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC65 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC65 gene promoter:

Genomic Locations for CCDC65 Gene

Genomic Locations for CCDC65 Gene
chr12:48,904,110-48,931,840
(GRCh38/hg38)
Size:
27,731 bases
Orientation:
Plus strand
chr12:49,297,893-49,325,623
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for CCDC65 Gene

Gene Ontology (GO) - Molecular Function for CCDC65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CCDC65: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CCDC65: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0003352 regulation of cilium movement IMP 24094744
GO:0060271 cilium assembly IMP 24094744
genes like me logo Genes that share ontologies with CCDC65: view

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:

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
Regions:
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

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 33 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia CCDC65 33 34
  • 89.44 (n)
cow
(Bos Taurus)
Mammalia CCDC65 33 34
  • 88.71 (n)
mouse
(Mus musculus)
Mammalia Ccdc65 33 16 34
  • 81.65 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc65 33
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC65 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC65 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC65 34
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC65 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc65 33
  • 62.54 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc65 33 34
  • 53.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30259 33 34
  • 43.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.806 33
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 Variation AA Info Type
rs1060503167 uncertain-significance, Ciliary dyskinesia, primary, 27 48,921,357(+) TTT/T coding_sequence_variant, frameshift
rs115782087 likely-benign, Ciliary dyskinesia, primary, 27 48,905,046(+) A/C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs116473422 benign, Ciliary dyskinesia, primary, 27 48,921,037(+) G/A coding_sequence_variant, synonymous_variant
rs117646559 benign, Ciliary dyskinesia, primary, 27 48,918,898(+) G/T coding_sequence_variant, missense_variant
rs117927481 benign, Ciliary dyskinesia, primary, 27 48,921,417(+) G/A coding_sequence_variant, missense_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)

Additional Variant Information 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

(3) MalaCards diseases for CCDC65 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 27
  • cild27
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
- 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.

Additional Disease Information for 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 JH (International journal of molecular medicine 2006) 2 3 4 58
  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 (American journal of human genetics 2013) 3 4 58
  3. Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella. (PMID: 21700706) Lin J … Nicastro D (The Journal of biological chemistry 2011) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CCDC65 Gene

Sources for CCDC65 Gene

Content
Loading form....