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Aliases for CFAP65 Gene

Aliases for CFAP65 Gene

  • Cilia And Flagella Associated Protein 65 2 3 5
  • Coiled-Coil Domain Containing 108 2 3
  • CCDC108 3 4
  • Cilia- And Flagella-Associated Protein 65 3
  • Coiled-Coil Domain-Containing Protein 108 4

External Ids for CFAP65 Gene

Previous HGNC Symbols for CFAP65 Gene

  • CCDC108

Summaries for CFAP65 Gene

Entrez Gene Summary for CFAP65 Gene

  • The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

GeneCards Summary for CFAP65 Gene

CFAP65 (Cilia And Flagella Associated Protein 65) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFAP65 Gene

  • May play a role in sperm motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP65 Gene

Genomics for CFAP65 Gene

Regulatory Elements for CFAP65 Gene

Enhancers for CFAP65 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
GH02F219272 1.4 FANTOM5 Ensembl ENCODE 6.2 -232.5 -232546 3.6 TBP SIN3A RAD21 GLIS2 ZNF366 FOS CEBPB SMARCB1 ZNF341 GLIS1 GLB1L PTPRN CFAP65 TUBA4B INHA ATG9A TUBA4A
GH02F218359 1.2 Ensembl ENCODE 5.3 +679.6 679552 5.2 PKNOX1 SIN3A ZNF48 SLC30A9 ZNF766 ZNF207 ZNF263 REST CREB3 SREBF1 CATIP ENSG00000261338 PNKD CFAP65 CATIP-AS2 CATIP-AS1
GH02F218354 1.1 Ensembl ENCODE 5.2 +686.4 686384 0.5 SOX13 DRAP1 SAP130 MLX ARID4B ZNF48 RARA GATAD1 POLR2A NR2F6 PNKD MIR6513 TMBIM1 AAMP SLC11A1 CFAP65 GC02M218355 RPL19P5
GH02F218908 1.8 FANTOM5 Ensembl ENCODE 2.1 +132.0 131953 2.4 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF143 CNOT9 STK36 AAMP CDK5R2 ENSG00000235024 RNF25 BCS1L LINC00608 FEV CRYBA2
GH02F218954 0.3 FANTOM5 1.3 +86.6 86564 0.3 RESP18 LINC00608 FEV CRYBA2 CDK5R2 PTPRN DNAJB2 CFAP65 KRT8P30
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP65 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP65 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001832652 150 400 RFX1 RNF2 MAX ZNF407 SIN3A BMI1 REST ETS1 MAFK TCF7L2

Genomic Location for CFAP65 Gene

Chromosome:
2
Start:
219,002,846 bp from pter
End:
219,041,551 bp from pter
Size:
38,706 bases
Orientation:
Minus strand

Genomic View for CFAP65 Gene

Genes around CFAP65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP65 Gene

Proteins for CFAP65 Gene

  • Protein details for CFAP65 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZU64-CFA65_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 65
    Protein Accession:
    Q6ZU64
    Secondary Accessions:
    • A2BDD8
    • E9PCR1
    • E9PG25
    • E9PG72
    • Q6ZSR8
    • Q8N0T4
    • Q8NDJ3

    Protein attributes for CFAP65 Gene

    Size:
    1925 amino acids
    Molecular mass:
    217250 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86362.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86878.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP65 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP65 Gene

Post-translational modifications for CFAP65 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP65 Gene

Domains & Families for CFAP65 Gene

Protein Domains for CFAP65 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP65 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZU64

UniProtKB/Swiss-Prot:

CFA65_HUMAN :
  • Contains 1 MSP domain.
  • Belongs to the CFAP65 family.
Domain:
  • Contains 1 MSP domain.
Family:
  • Belongs to the CFAP65 family.
genes like me logo Genes that share domains with CFAP65: view

No data available for Gene Families for CFAP65 Gene

Function for CFAP65 Gene

Molecular function for CFAP65 Gene

UniProtKB/Swiss-Prot Function:
May play a role in sperm motility.

Gene Ontology (GO) - Molecular Function for CFAP65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with CFAP65: view
genes like me logo Genes that share phenotypes with CFAP65: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP65 Gene

Localization for CFAP65 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP65 Gene

Cell projection, cilium, flagellum membrane; Single-pass membrane protein.

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 CFAP65 gene
Compartment Confidence
plasma membrane 4
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CFAP65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CFAP65: view

Pathways & Interactions for CFAP65 Gene

SuperPathways for CFAP65 Gene

No Data Available

Interacting Proteins for CFAP65 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000340776%0d%0a9606.ENSP00000300213%0d%0a
Selected Interacting proteins: ENSP00000340776 Q6ZU64-CFA65_HUMAN for CFAP65 Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for CFAP65 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP65 Gene

Transcripts for CFAP65 Gene

Unigene Clusters for CFAP65 Gene

Coiled-coil domain containing 108:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP65 Gene

No ASD Table

Relevant External Links for CFAP65 Gene

GeneLoc Exon Structure for
CFAP65
ECgene alternative splicing isoforms for
CFAP65

Expression for CFAP65 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CFAP65 Gene:

CFAP65

SOURCE GeneReport for Unigene cluster for CFAP65 Gene:

Hs.147762
genes like me logo Genes that share expression patterns with CFAP65: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CFAP65 Gene

Orthologs for CFAP65 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP65 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC108 34 35
  • 98.96 (n)
dog
(Canis familiaris)
Mammalia CCDC108 34 35
  • 83.99 (n)
cow
(Bos Taurus)
Mammalia CCDC108 34 35
  • 83.31 (n)
rat
(Rattus norvegicus)
Mammalia LOC301521 34
  • 79.06 (n)
mouse
(Mus musculus)
Mammalia Ccdc108 34 16 35
  • 78.21 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC108 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC108 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC108 34 35
  • 59.01 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC108 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc108 34
  • 54.33 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch1073-349o24.2 34
  • 50.68 (n)
CCDC108 35
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5597 35
  • 36 (a)
OneToOne
Species where no ortholog for CFAP65 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)
  • fruit fly (Drosophila melanogaster)
  • 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 CFAP65 Gene

ENSEMBL:
Gene Tree for CFAP65 (if available)
TreeFam:
Gene Tree for CFAP65 (if available)

Paralogs for CFAP65 Gene

No data available for Paralogs for CFAP65 Gene

Variants for CFAP65 Gene

Sequence variations from dbSNP and Humsavar for CFAP65 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs193920770 Uncertain significance 219,035,422(-) CAGGC(-/T)CTCTT intron-variant, reference, frameshift-variant
rs10179065 -- 219,010,219(+) TGGCC(C/T)TTTTG intron-variant
rs10187743 -- 219,028,457(+) GGGGG(A/G)TGCTG intron-variant
rs10199697 -- 219,009,670(+) gtggg(A/G)tgggg intron-variant
rs10203226 -- 219,029,274(+) AGGAG(A/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP65 Gene

Variant ID Type Subtype PubMed ID
nsv954839 CNV deletion 24416366
nsv834542 CNV gain 17160897
nsv584491 CNV loss 21841781
nsv476759 CNV novel sequence insertion 20440878
esv3594353 CNV loss 21293372

Variation tolerance for CFAP65 Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.09; 99.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP65 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP65

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP65 Gene

Disorders for CFAP65 Gene

Relevant External Links for CFAP65

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP65
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP65

No disorders were found for CFAP65 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP65 Gene

Publications for CFAP65 Gene

  1. The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. (PMID: 22761584) Imsland F. … Andersson L. (PLoS Genet. 2012) 2 3 64
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  5. Exome sequencing supports a de novo mutational paradigm for schizophrenia. (PMID: 21822266) Xu B. … Karayiorgou M. (Nat. Genet. 2011) 3 64

Products for CFAP65 Gene

Sources for CFAP65 Gene

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