CFAP70 (cilia and flagella associated protein 70)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
118491
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 70
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP70
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF41, TTC18
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPGF41
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.2
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement ISS
GO:0003674 Function Molecular_function ND
GO:0005930 Component Axoneme ISS
GO:0008150 Process Biological_process ND
GO:0036064 Component Ciliary basal body IDA 31621862
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618661 30726 ENSG00000156042
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder rs753307279
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder GenCC
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Nasopharyngeal Carcinoma Associate 31770211