Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	118491
Gene name	Cilia and flagella associated protein 70
Gene symbol	CFAP70
Synonyms (NCBI Gene)	SPGF41TTC18
Chromosome	10
Chromosome location	10q22.2

SNP ID	Visualize variation	Clinical significance	Consequence
rs1589391313	C>A	Pathogenic	Splice acceptor variant

15 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
GO:0005930	Component	Axoneme	ISS
GO:0031514	Component	Motile cilium	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA	31621862
GO:0036126	Component	Sperm flagellum	IDA	31621862, 37934199
GO:0036157	Component	Outer dynein arm	IDA	31621862
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
618661	30726	ENSG00000156042

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	1002 → 1033	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	963 → 991	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	930 → 960	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 41	Pathogenic	rs1589391313	RCV000856602	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	31621862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31770211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CFAP69	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
FSIP2	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
SEPTIN12	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CFAP65	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CFAP251	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]

CFAP70 (cilia and flagella associated protein 70)

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