CFAP43 (cilia and flagella associated protein 43)

Gene

• Entrez ID: 80217
• Gene name: Cilia and flagella associated protein 43
• Gene symbol: CFAP43
• Synonyms (NCBI Gene): C10orf79, HYDNP1, SPGF19, WDR96, bA373N18.2
• Disease Acronyms (UniProt): HYDNP1, SPGF19
• 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]

SNPs

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003356	Process	Regulation of cilium beat frequency	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005930	Component	Axoneme	IBA	21873635
GO:0005930	Component	Axoneme	ISS
GO:0007288	Process	Sperm axoneme assembly	IBA	21873635
GO:0007288	Process	Sperm axoneme assembly	IMP	29449551
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0007420	Process	Brain development	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120197	Process	Mucociliary clearance	IEA

Other IDs

• MIM: 617558
• HGNC: 26684
• e!Ensembl: ENSG00000197748

Protein

• UniProt ID: 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
• 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hydrocephalus	Hydrocephalus, Normal Pressure	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546	31004071
Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder	rs753307279
Spermatogenic failure	SPERMATOGENIC FAILURE 19	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs778145751, rs387906690, rs201095702, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058	28552195, 29449551

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
Ciliary dyskinesia	primary ciliary dyskinesia			GenCC
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS
Insomnia	Insomnia			GWAS
Gastroparesis	Gastroparesis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	34100391
Infertility	Associate	39331878
Infertility Male	Associate	39331878
Ocular Motility Disorders	Associate	34089056