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] See more...

Aliases for CFAP65 Gene

Aliases for CFAP65 Gene

  • Cilia And Flagella Associated Protein 65 2 3 5
  • Cilia- And Flagella-Associated Protein 65 3 4
  • Coiled-Coil Domain Containing 108 2 3
  • CCDC108 3 4
  • Coiled-Coil Domain-Containing Protein 108 4
  • DKFZp434O0527 2
  • MGC35338 2
  • SPGF40 3
  • CFAP65 5

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. Diseases associated with CFAP65 include Spermatogenic Failure 40 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is SOX30.

UniProtKB/Swiss-Prot Summary for CFAP65 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP65 Gene

Genomics for CFAP65 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP65 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
GH02J219041 Promoter 1.1 EPDnew Ensembl 250.7 +1.8 1841 1 ETS1 SIN3A YY1 BMI1 RFX1 SP1 CBX8 CHD2 MTA3 BACH1 CFAP65 NHEJ1 IHH HSALNG0022326 CRYBA2
GH02J219042 Enhancer 0.5 dbSUPER 250.7 +0.4 389 1.6 HNF4A MIER2 TFAP4 ZNF644 USF1 SP1 SCRT2 CFAP65 NHEJ1 IHH SLC23A3 HSALNG0022326 CRYBA2
GH02J219272 Enhancer 1 FANTOM5 ENCODE 6.2 -231.0 -230954 3.6 ZNF600 JUND CEBPB ZNF341 MAX EP300 SAP130 RAD21 TEAD3 TBP GLB1L PTPRN CFAP65 TUBA4B INHA ATG9A TUBA4A RF00017-3092
GH02J218354 Enhancer 0.8 ENCODE 5.3 +688.0 687975 0.5 RAD51 THAP11 KDM6A SMAD4 SAP130 RARA CREM DRAP1 BCL6 SOX5 CATIP RPL19P5 piR-49575-002 piR-46391-005 PNKD TMBIM1 AAMP SLC11A1 CFAP65 CATIP-AS2
GH02J218908 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 2.1 +133.5 133506 2.3 BCLAF1 SP1 MYC ZNF600 ZNF580 ZNF592 ZMYM3 KLF9 POLR2A ZNF10 HSALNG0022314-001 HSALNG0022314-002 lnc-WNT10A-4 STK36 ZNF142 CNOT9 AAMP OBSL1 CDK5R2 ENSG00000235024
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP65 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP65

Genomic Locations for CFAP65 Gene

Latest Assembly
chr2:219,002,846-219,043,142
(GRCh38/hg38)
Size:
40,297 bases
Orientation:
Minus strand

Previous Assembly
chr2:219,867,568-219,906,273
(GRCh37/hg19 by Entrez Gene)
Size:
38,706 bases
Orientation:
Minus strand

chr2:219,867,568-219,906,249
(GRCh37/hg19 by Ensembl)
Size:
38,682 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=Truncated N-terminus.; 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

Gene Families for CFAP65 Gene

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

Protein Domains for CFAP65 Gene

InterPro:
Blocks:
  • Major sperm protein (MSP) domain

Suggested Antigen Peptide Sequences for CFAP65 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58438 (B4DYZ8_HUMAN)
  • Coiled-coil domain-containing protein 108 (CC108_HUMAN)
  • Coiled-coil domain containing 108 (Q8N0T4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZU64

UniProtKB/Swiss-Prot:

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

Function for CFAP65 Gene

Molecular function for CFAP65 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in flagellar formation and sperm motility.

Phenotypes From GWAS Catalog for CFAP65 Gene

Gene Ontology (GO) - Molecular Function for CFAP65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with CFAP65: view
genes like me logo Genes that share phenotypes with CFAP65: view

Human Phenotype Ontology for CFAP65 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP65

No data available for Enzyme Numbers (IUBMB) , 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. Cytoplasmic vesicle, secretory vesicle, acrosome membrane. Single-pass type I membrane protein. Cytoplasm. Note=Expressed in flagella midpiece and acrosome of mature spermatozoa. {ECO:0000269 PubMed:31413122}.

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 3
mitochondrion 2
nucleus 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IDA 31413122
GO:0002080 acrosomal membrane IEA --
GO:0005737 cytoplasm IEA,IDA 31413122
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with CFAP65: view

Pathways & Interactions for CFAP65 Gene

PathCards logo

SuperPathways for CFAP65 Gene

No Data Available

Interacting Proteins for CFAP65 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6ZU64-CFA65_HUMAN ENSP00000340776 for CFAP65 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for CFAP65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly ISS --
GO:0030030 cell projection organization IEA --
GO:0030317 flagellated sperm motility ISS --
genes like me logo Genes that share ontologies with CFAP65: view

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

Drugs & Compounds for CFAP65 Gene

No Compound Related Data Available

Transcripts for CFAP65 Gene

mRNA/cDNA for CFAP65 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP65

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

No ASD Table

Relevant External Links for CFAP65 Gene

GeneLoc Exon Structure for
CFAP65

Expression for CFAP65 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP65

Evidence on tissue expression from TISSUES for CFAP65 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CFAP65: view

Primer products for research

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 98.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC108 29 30
  • 83.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC108 29 30
  • 83.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC301521 29
  • 79.06 (n)
Mouse
(Mus musculus)
Mammalia Ccdc108 29 30
  • 78.21 (n)
OneToOne
Cfap65 16
Oppossum
(Monodelphis domestica)
Mammalia CCDC108 30
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC108 30
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC108 29 30
  • 59.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC108 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc108 29
  • 54.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch1073-349o24.2 29
  • 50.68 (n)
CCDC108 30
  • 36 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5597 30
  • 36 (a)
OneToOne
Species where no ortholog for CFAP65 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP65: view image
Alliance of Genome Resources:
Additional Orthologs for CFAP65

Paralogs for CFAP65 Gene

genes like me logo Genes that share paralogs with CFAP65: view

Variants for CFAP65 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP65 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1030448 Uncertain Significance: Spermatogenic failure 40 219,029,564(-) C/T
NM_194302.4(CFAP65):c.1489G>A (p.Ala497Thr)
MISSENSE
916252 Uncertain Significance: not provided 219,013,323(-) T/A
NM_194302.4(CFAP65):c.3893A>T (p.His1298Leu)
MISSENSE
rs114017706 Benign: not provided 219,026,092(-) C/T
NM_194302.4(CFAP65):c.2279G>A (p.Arg760Gln)
MISSENSE
rs114688732 Benign: not provided 219,019,598(-) C/G
NM_194302.4(CFAP65):c.3381G>C (p.Leu1127=)
SYNONYMOUS
rs115409821 Benign: not provided 219,005,519(-) A/G
NM_194302.4(CFAP65):c.4966T>C (p.Ser1656Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFAP65 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for CFAP65 Gene

Human Gene Mutation Database (HGMD)
CFAP65
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP65
Leiden Open Variation Database (LOVD)
CFAP65

SNP Genotyping and Copy Number Assays for research

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

Disorders for CFAP65 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CFAP65 Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
spermatogenic failure 40
  • spgf40
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
obsessive-compulsive personality disorder
  • anankastic personality disorder
infertility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CFA65_HUMAN
  • Spermatogenic failure 40 (SPGF40) [MIM:618664]: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. {ECO:0000269 PubMed:28552195, ECO:0000269 PubMed:31413122, ECO:0000269 PubMed:31501240, ECO:0000269 PubMed:31571197}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CFAP65

genes like me logo Genes that share disorders with CFAP65: view

No data available for Genatlas for CFAP65 Gene

Publications for CFAP65 Gene

  1. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. (PMID: 31413122) Wang W … Tan YQ (Journal of medical genetics 2019) 3 4 72
  2. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. (PMID: 31501240) Li W … Zhang F (Journal of medical genetics 2020) 3 4
  3. 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 genetics 2012) 2 3
  4. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. (PMID: 31980649) Kennedy SA … Kolch W (Nature communications 2020) 3
  5. A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella. (PMID: 31571197) Zhang X … Yang Y (Clinical genetics 2019) 4

Products for CFAP65 Gene

Sources for CFAP65 Gene