CFAP65 (cilia and flagella associated protein 65)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 255101
Gene name Cilia and flagella associated protein 65
Gene symbol CFAP65
Synonyms (NCBI Gene)
CCDC108SPGF40
Chromosome 2
Chromosome location 2q35
Summary 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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs756973049 G>A,C Pathogenic Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant, stop gained
rs1457312523 C>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained, missense variant
rs1574628422 A>- Pathogenic 5 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
57
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (57)
miRTarBase ID miRNA Experiments Reference
MIRT620660 hsa-miR-548ac HITS-CLIP 23824327
MIRT620659 hsa-miR-548bb-3p HITS-CLIP 23824327
MIRT620658 hsa-miR-548d-3p HITS-CLIP 23824327
MIRT620657 hsa-miR-548h-3p HITS-CLIP 23824327
MIRT620656 hsa-miR-548z HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IDA 31413122, 33472045
GO:0002080 Component Acrosomal membrane IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 25416956, 33472045
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614270 25325 ENSG00000181378
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZU64
Protein name Cilia- and flagella-associated protein 65 (Coiled-coil domain-containing protein 108)
Protein function Plays a role in flagellar formation and sperm motility.
Family and domains
Sequence 
MFTLTGCRLVEKTQKVENPSVSFASSFPLIPLLLRGKSVQKKQAESKSQIKLHTQSAPFG
LCPKDMMLTQAPSSVVRSRNSRNHTVNSGGSCLSASTVAIPAINDSSAAMSACSTISAQP
ASSMDTQMHSPKKQERVNKRVIWGIEVAEELHWKGWELGKETTRNLVLKNRSLKLQKMKY
RPPKTKFFFTVIPQPIFLSPGITLTLPIVFRPLEAKEYMDQLWFEKAEGMFCVGLRATLP
CHRLICRPPSLQLPMCAVGDTTEAFFCLDNVGDLPTFFTWEFSSPFQMLPATGLLEPGQA
SQIKVTFQPLTAVIYEVQATCWYGAGSRQRSSIQLQAVAKCAQLLVSIKHKCPEDQDAEG
FQKLLYFGSVAVGCTSERQIRLHNPSAVNAPFRIEISPDELAEDQAFSCPTAHGIVLPGE
KKCVSVFFHPKTLDTRTVDYCSIMPSGCASKTLLKVVGFCRGPAVSLQHYCVNFSWVNLG
ERSEQPLWIENQSDCTAHFQFAIDCLESVFTIRPAFGTLVGKARMTLHCAFQPTHPIICF
RRVACLIHHQDPLFLDLMGTCHSDSTKPAILKPQHLTWYRTHLARGLTLYPPDILDAMLK
EKKLAQDQNGALMIPIQDLEDMPAPQYPYIPPMTEFFFDGTSDITIFPPPISVEPVEVDF
GACPGPEAPNPVPLCLMNHTKGKIMVVWTRRSDCPFWVTPESCDVPPLKSMAMRLHFQPP
HPNCLYTVELEAFAIYKVLQSYSNIEEDCTMCPSWCLTVRARGHSYFAGFEHHIPQYSLD
VPKLFPAVSSGEPTYRSLLLVNKDCKLLTFSLAPQRGSDVILRPTSGLVAPGAHQIILIC
TYPEGSSWKQHTFYLQCNASPQYLKEVSMYSREEPLQLKLDTHKSLYFKPTWVGCSSTSP
FTFRNPSRLPLQFEWRVSEQHRKLLAVQPSRGLIQPNERLTLTWTFSPLEETKYLFQVGM
WVWEAGLSPNANPAATTHYMLRLVGVGLTSSLSAKEKELAFGNVLVNSKQSRFLVLLNDG
NCTLYYRLYLEQGSPEAVDNHPLALQLDRTEGSMPPRSQDTICLTACPKQRSQYSWTITY
SLLSHRDNKAGEKQELCCVSLVAVYPLLSILDVSSMGSAEGITRKHLWRLFSLDLLNSYL
ERDPTPCELTYKVPTRHSMSQIPPVLTPLRLDFNFGAAPFKAPPSVVFLALKNSGVVSLD
WAFLLPSDQRIDVELWAEQAELNSTELHQMRVQDNCLFSISPKAGSLSPGQEQMVELKYS
HLFIGTDHLPVLFKVSHGREILLNFIGVTVKPEQKYVHFTSTTHQFIPIPIGDTLPPRQI
YELYNGGSVPVTYEVQTDVLSQVQEKNFDHPIFCCLNPKGEIQPGSTARVLWIFSPIEAK
TYTVDVPIHILGWNSALIHFQGVGYNPHMMGDTAPFHNISSWDNSSIHSRLVVPGQNVFL
SQSHISLGNIPVQSKCSRLLFLNNISKNEEIAFSWQPSPLDFGEVSVSPMIGVVAPEETV
PFVVTLRASVHASFYSADLVCKLYSQQLMRQYHKELQEWKDEKVRQEVEFTITDMKVKKR
TCCTACEPARKYKTLPPIKNQQSVSRPASWKLQTPKEEVSWPCPQPPSPGMLCLGLTARA
HATDYFLANFFSEFPCHFLHRELPKRKAPREESETSEEKSPNKWGPVSKQKKQLLVDILT
TIIRGLLEDKNFHEAVDQSLVEQVPYFRQFWNEQSTKFMDQKNSLYLMPILPVPSSSWED
GKGKQPKEDRPEHYPGLGKKEEGEEEKGEEEEEELEEEEEEEEETEEEELGKEEIEEKEE
ERDEKEEKVSWAGIGPTPQPESQESMQWQWQQQLNVMVKEEQEQDEKEAIRRLPAFANLQ
EALLENMIQNILVEASRGEVVLTSRPRVIALPPFCVPRSLTPDTLLPTQQAEVLHPVVPL
PTDLP
Sequence length 1925
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFAP65-related disorder Likely pathogenic rs765822469 RCV003414228
Spermatogenic failure 40 Pathogenic rs1269179049, rs756973049, rs1574628422, rs1457312523 RCV000856592
RCV000856593
RCV000856594
RCV000856601
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs201731724 RCV005939129
Non-syndromic male infertility due to sperm motility disorder Conflicting classifications of pathogenicity rs74775944 RCV005359637
Prostate cancer Uncertain significance rs193920770 RCV000149349
Thymoma Uncertain significance rs201731724 RCV005939130
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 31413122
Capillary Malformation Arteriovenous Malformation Associate 31413122
Gastroschisis Associate 32163230
Infertility Associate 36896575
Infertility Male Associate 36896575
Neoplasms Associate 29259235