CFAP70 (cilia and flagella associated protein 70)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 118491
Gene name Cilia and flagella associated protein 70
Gene symbol CFAP70
Synonyms (NCBI Gene)
SPGF41TTC18
Chromosome 10
Chromosome location 10q22.2
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1589391313 C>A Pathogenic Splice acceptor variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IBA
GO:0003341 Process Cilium movement ISS
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618661 30726 ENSG00000156042
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T0N1
Protein name Cilia- and flagella-associated protein 70 (Tetratricopeptide repeat protein 18) (TPR repeat protein 18)
Protein function Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 930 → 960 Tetratricopeptide repeat Repeat
PF13181 TPR_8 963 → 991 Tetratricopeptide repeat Repeat
PF13181 TPR_8 1002 → 1033 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:31621862}.
Sequence 
MEQVPSAGRLVQITVTEGYDLKGFKGDTPVTFIRAEFNQVVLGDSAKITVSPEGSAKYNF
TSSFEFNPEGGITSDDLAHKPVFLTVTEVLPKEKKQKEEKTLILGQAVVDLLPLLEGQSS
FQTTVPLHPVQGSPLETPRSSAKQCSLEVKVLVAEPLLTTAQISGGNLLKVTLEAAYSVP
ESFIPTGPGQNYMVGLQVPSLGEKDYPILFKNGTLKLGGEREPVPRPKKWPIANILAPGA
NNIPDAFIVGGPYEEEEGELNHPEDSEFRNQAECIKKRIIWDLESRCYLDPSAVVSFQKR
IADCRLWPVEITRVPLVTIPKGKAGKTEKTDEEAQLSFHGVAYVNMVPLLYPGVKRIRGA
FHVYPYLDSVVHEKTKCLLSLFRDIGHHLIHNNKIGGINSLLSKQAVSKNLKEDKPVKEK
DIDGRPRPGDVQAPSIKSQSSDTPLEGEPPLSHNPEGQQYVEAGTYIVLEIQLDKALVPK
RMPEELARRVKEMIPPRPPLTRRTGGAQKAMSDYHIQIKNISRAILDEYYRMFGKQVAKL
ESDMDSETLEEQKCQLSYELNCSGKYFAFKEQLKHAVVKIVRDKYLKTTSFESQEELQTF
ISELYVFLVDQMHVALNQTMPDDVQGTVATIYTSSEQLQLFAFEAEVNENFEMAAAYYKE
RLVREPQNLDHWLDYGAFCLLTEDNIKAQECFQKALSLNQSHIHSLLLCGVLAVLLENYE
QAEIFFEDATCLEPTNVVAWTLLGLYYEIQNNDIRMEMAFHEASKQLQARMLQAQVTKQK
STGVEDTEERGKRESSLGPWGITNGSATAIKVEAPAGPGAALSILDKFLEESSKLQSDSQ
EPILTTQTWDPSISQKPSNTFIKEIPTKKEASKCQDSSALLHPGLHYGVSQTTTIFMETI
HFLMKVKAVQYVHRVLAHELLCPQGGPSCEYYLVLAQTHILKKNFAKAEEYLQQAAQMDY
LNPNVWGLKGHLYFLSGNHSEAKACYERTISFVVDASEMHFIFLRLGLIYLEEKEYEKAK
KTYMQACKRSPSCLTWLGLGIACYRLEELTEAEDALSEANALNNYNAEVWAYLALVCLKV
GRQLEAEQAYKYMIKLKLKDEALLAEIHTLQETVGFGNPSF
Sequence length 1121
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 41 Pathogenic rs1589391313 RCV000856602
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Nasopharyngeal Carcinoma Associate 31770211