Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	80217
Gene name	Cilia and flagella associated protein 43
Gene symbol	CFAP43
Synonyms (NCBI Gene)	C10orf79HYDNP1SPGF19WDR96bA373N18.2
Chromosome	10
Chromosome location	10q25.1
Summary	This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

10 Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147356105	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs373911488	A>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant, intron variant
rs376788209	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant
rs753300178	CA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs760609580	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs768831533	G>A,C,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1131692266	G>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1554861288	T>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1554862953	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554882484	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, frameshift variant

29 Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IEA
GO:0003356	Process	Regulation of cilium beat frequency	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0006997	Process	Nucleus organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	29449551
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007420	Process	Brain development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120197	Process	Mucociliary clearance	IEA

MIM	HGNC	e!Ensembl
617558	26684	ENSG00000197748

Q8NDM7

Protein name

Cilia- and flagella-associated protein 43 (WD repeat-containing protein 96)

Protein function

Flagellar protein involved in sperm flagellum axoneme organization and function (By similarity). Involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract (By similarity). {ECO:0000250|U

PDB

8J07

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29449551}.

Sequence

MAQGRERDEGPHSAGGASLSVRWVQGFPKQNVHFVNDNTICYPCGNYVIFINIETKKKTV
LQCSNGIVGVMATNIPCEVVAFSDRKLKPLIYVYSFPGLTRRTKLKGNILLDYTLLSFSY
CGTYLASYSSLPEFELALWNWESSIILCKKSQPGMDVNQMSFNPMNWRQLCLSSPSTVSV
WTIERSNQEHCFRARSVKLPLEDGSFFNETDVVFPQSLPKDLIYGPVLPLSAIAGLVGKE
AETFRPKDDLYPLLHPTMHCWTPTSDLYIGCEEGHLLMINGDTLQVTVLNKIEEESPLDR
RNFISPVTLVYQKEGVLASGIDGFVYSFIIKDRSYMIEDFLEIERPVEHMTFSPNYTVLL
IQTDKGSVYIYTFGKEPTLNKVLDACDGKFQAIDFITPGTQYFMTLTYSGEICVWWLEDC
ACVSKIYLNTLATVLACCPSSLSAAVGTEDGSVYFISVYDKESPQVVHKAFLSESSVQHV
VYDQQGIFLLVGTAEGKVFIINANSSSSFQIIGFTEVAKDILQISTVSLLETDIVEVMVL
SSLPEAGRSRLEMFTLPTLLPQVSTTFADERGRLKDEIIHKYLYELEHALSSAVLGFQSN
QIYGFCSQVPYICSYLLPEEEHTGIYILKPYKKVQSRQYGPGLLYLSSHGLWLITIAKCG
ILCIRDVYTLETFAWCRSHSHQGHGIQSMRISMDGQNILVNGRDDGTLVYLKWKRFGGHL
ASEILDYYQKLLISLSSAMDKENHYLSTTPKVSVDLGSDSEHTKQKASTDLSQDELVLTD
VKKEIPWIQQKSQEAIKKEVNLFSKKRKEIKQGIKSLSKTILNMMEENDKLENIAKLDQQ
EFGLDLEELERLHDESQEEVAKMIKDVEMHNLAKSYLAELIKEECWNSMAVKGRALKCFH
IPCVVENFPMKARTVEELKELERVLQQKKIEAECLKLRKEIVEAQSGVKLIKQRHEEDDE
EEEEEDKTVKYSNLPNYLLGSLSTDFGVDTSLLSSQLELHSREEKINQIILLKDIIYKVK
TVFNNEFDAAYKQKEFEIARVKERNVRIREIILDLELEEAVWQPEFEDCEKPERTLVVQD
EEITAHKHIKPWHKAKELIVNHEKEHWLLIQDASTRLRALMDMMGGVLEVKKEDILRMVI
PQPAFMAKPDAVWTEEERKQFKDYEKKVKELNEERDKYRKSLEAELKKLQNSIQESTQAF
DEHLKRLFERRVKAEMVTNQEELKISNLAFSLLLDEELSSREKFLNNYLTRKQHEKSQTS
EAVRKSREDLDVCKEHYDNLLAEDKVMDRSFKKEFSEIPGHQVDILYKLFKRRPRISKQK
THSETTSVVPFGELPGSGKLNKDAFAQLMKAMDELDNISNMPEGLDPLVWNHFCMTRRAK
VENEQKVKQKAADLLEMATFLQKRVEEEEKVQQEIERVFHELILLQEEKVRFQLNLTIQI
LLKQGQVELENFQLVLEYSDAILINKNIIEDLNSVIRTQGQKKVASMMESKDVHKRILQI
EWEHKKMEMEREDLNQKAWDIQMLFFSRDRQKYLNEPNYEALISIQIGIMEQTIAVLDKM
HKKNVENCKKLLKKLGKFSNQKDIANYALSCNLREELVAVSERKDICNAMGSKLTCEKIV
KERYENMMQQQKLTNISKQQAEQISILQTEVERLRMKTFPALVQM

Sequence length

1665

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
CFAP43-related disorder	Likely pathogenic	rs2493499292	RCV003893700	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Normal pressure hydrocephalus	Pathogenic; Likely pathogenic	rs139080358, rs2087918488	RCV001849889 RCV003337898	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 19	Pathogenic	rs373911488, rs768831533, rs1131692266, rs376788209, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105	RCV000496006 RCV000496042 RCV000496071 RCV000496008 RCV000626417 View all (5 more)	★★★★★ ★★★★★ 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. Show/Hide Unknown Diseases (14)
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	18839057	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	28468790	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	GWAS catalog	37688361	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, NORMAL PRESSURE	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, NORMAL-PRESSURE, 1	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
primary ciliary dyskinesia	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★★★★ ★★☆☆☆ 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 Show/Hide Text Mining Associations (7)
Hydrocephalus, Normal Pressure	Hydrocephalus	ORPHANET_DG	31004071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	39331878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39331878	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
SPERMATOGENIC FAILURE 19	Spermatogenic Failure	GENOMICS_ENGLAND_DG	28552195		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 19	Spermatogenic Failure	UNIPROT_DG	28552195, 29449551		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPERMATOGENIC FAILURE 19	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DNAH1	5	["Ciliary dyskinesia","Congenital impairment of spermatozoa motility","Spermatogenic failure","Teratozoospermia","primary ciliary dyskinesia"]	[]	9	["Disgenet (Ciliary dyskinesia)","ClinGen (Ciliary dyskinesia)","Disgenet (Congenital impairment of spermatozoa motility)","ClinGen (Spermatogenic failure)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Teratozoospermia)","ClinGen (primary ciliary dyskinesia)"]
AK7	3	["Ciliary dyskinesia","Congenital impairment of spermatozoa motility","Spermatogenic failure"]	[]	7	["Disgenet (Ciliary dyskinesia)","ClinGen (Ciliary dyskinesia)","Disgenet (Congenital impairment of spermatozoa motility)","ClinGen (Spermatogenic failure)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
TTC21A	3	["Congenital impairment of spermatozoa motility","Spermatogenic failure","Teratozoospermia"]	[]	6	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","CTD (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Teratozoospermia)"]
CFAP57	3	["Ciliary dyskinesia","Spermatogenic failure","primary ciliary dyskinesia"]	[]	5	["Disgenet (Ciliary dyskinesia)","ClinGen (Ciliary dyskinesia)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","ClinGen (primary ciliary dyskinesia)"]
DNAH10	4	["Ciliary dyskinesia","Spermatogenic failure","Teratozoospermia","primary ciliary dyskinesia"]	[]	8	["Disgenet (Ciliary dyskinesia)","ClinGen (Ciliary dyskinesia)","ClinGen (Spermatogenic failure)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Teratozoospermia)","ClinGen (primary ciliary dyskinesia)"]

CFAP43 (cilia and flagella associated protein 43)

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