CFAP47 (cilia and flagella associated protein 47)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 286464
• Gene name: Cilia and flagella associated protein 47
• Gene symbol: CFAP47
• Synonyms (NCBI Gene): CHDC2, CXorf22, CXorf30, CXorf59, SPGF52, SPGFX3
• Chromosome: X
• Chromosome location: Xp21.1
• Summary: While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

miRNA Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT754791	hsa-miR-3929	PAR-CLIP	22291592
MIRT754792	hsa-miR-4419b	PAR-CLIP	22291592
MIRT754793	hsa-miR-4478	PAR-CLIP	22291592
MIRT754794	hsa-miR-5588-3p	PAR-CLIP	22291592
MIRT754795	hsa-miR-4794	PAR-CLIP	22291592
MIRT754796	hsa-miR-664a-5p	PAR-CLIP	22291592
MIRT754797	hsa-miR-5580-5p	PAR-CLIP	22291592
MIRT754798	hsa-miR-4433a-5p	PAR-CLIP	22291592
MIRT754799	hsa-miR-188-3p	PAR-CLIP	22291592
MIRT754791	hsa-miR-3929	PAR-CLIP	22291592
MIRT754792	hsa-miR-4419b	PAR-CLIP	22291592
MIRT754793	hsa-miR-4478	PAR-CLIP	22291592
MIRT754794	hsa-miR-5588-3p	PAR-CLIP	22291592
MIRT754795	hsa-miR-4794	PAR-CLIP	22291592
MIRT754796	hsa-miR-664a-5p	PAR-CLIP	22291592
MIRT754797	hsa-miR-5580-5p	PAR-CLIP	22291592
MIRT754798	hsa-miR-4433a-5p	PAR-CLIP	22291592
MIRT754799	hsa-miR-188-3p	PAR-CLIP	22291592

Gene ontology (GO) Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33472045, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0007288	Process	Sperm axoneme assembly	IMP	33472045
GO:0031514	Component	Motile cilium	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0120212	Component	Sperm head-tail coupling apparatus	IDA	33472045

Other IDs

• MIM: 301057
• HGNC: 26708
• e!Ensembl: ENSG00000165164

Protein

• UniProt ID: Q6ZTR5
• Protein name: Cilia- and flagella-associated protein 47
• Protein function: Plays a role in flagellar formation and sperm motility.
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in spermatzoa (at protein level). {ECO:0000269|PubMed:33472045}.
• Sequence:

  MNTQKGSLTINVHRGSLAMSIQRGSLVPRDMDSSGRDMQLRVIPAEVKFLDTMAGRVYRL
  PITVHNICRWNQKIRFKEPVKPQFKLMLTSLDKELASGLQMTAMVEYHPDKDEDTFDRLL
  ISIENKTTEIPLIGLIPSCQLEIESVVNFGTLVANSKVYSKEITITNHGKAPGIFKAEYH
  GQLPILIFPTSGIVDAKSSMVIKVDFCADQPRIVDEEAIVILQGQPEMLLSIKAHVVEQI
  IELLSMSSDRRLECIHFGPVFFGSSKIKHARVYNNSPEPINWVAIIQDDAVGEELGTDIQ
  QRTDIALNNLTYIRKIKNIDTTIIISCLPNEGTLQPYQKTVITFCFTPKLMAVGKKDIGP
  SYRQDYALFLRFESVGSKDGFLRDDDYKTIKSERFQKVELALTGTGLPVLLQFDPGPVLN
  FKPCFMGERSEIQCIIKNQCELLPVTYHFKKTANFEIDPEKGKITGGGMVDVMCSFVPHQ
  LGVFKVKQMIEIIGLVAEEDLQSLSVKSFHHVYLAFNSICKASTKKVVMKFDPGILPSIR
  NPTGKFVVKDLAKRKNYAPVAMLQSAMTRTHNHRSCEEPVKDMLLAFPNDRAATIRSKDH
  HKHFRPIFTKVPRFNYVNHDFAYTTFEKQQKKLHENYYAMYLKYLRSVRLQKKQAERERM
  YSYDDTDIGLEPGSGLKSPSLSEAEIEEELSSAANSIRANRLLTTRGIASQEEESVRRKV
  LKGLKSEPSTPQEKHDCSLMLTPKQIHQVIVGPSVLNFGNICVNSPNTHLLHVINMLPMH
  VLLQLDTDLEELQKTNQFSYVILPTSSTYISMVFDSPTIGKFWKSFTFTVNNVPSGHILV
  VAVVQPVTLELSSNELVLRPRGFFMKTCFRGTVRLYNRQNCCAQFQWQPVNTGRGIAFSI
  CPAKGTVEAYSSLECEVTWQQGFSSPEEGEFILHVFQGNALKLKCVAHLGRTKVLLLQPR
  ILFSNCPQGLTTWRKAILQNVGQNHAYFKVCSQSLLPIINIIPSQGIVPFGGITVLNISC
  KPTVAEKFDTRAKVSIRHANVIDLRIGGSAEIADVEINPDVFNFSGAYIGGTQIIPFVIK
  NKGITRARVEFNLKDFPDFSMDLKDKSEEFKDPAVPYIYSLELEENTSLECSITFSPKEV
  TVVEFIIQVQINFFESSKLYTKYLSSSPSNPKTVPLIRPCYVQATALQSPLNLSSTKFVF
  EIPLHEMNPNNKVTKTQNLVLYNITKHHVTWTLDLSNTGKLFKDGTFKFSVLNGILRPNE
  KYNVSISFCPNRPGTYTADIPMLLNYIPVCYKILHLTGEVKSPELLFDPPFIFFTPVPLD
  ITTVMDINILPQNYFRNSTLCVQIPTVRLLDGEEIHPLSVKFPKGRVIPGSHSGINNKLT
  CHLSFKSSKPVSFFTNLLFCDDRKNWFSLPVTATAENCILTIYPYMAIHLDKQNIILKND
  KDEYLKKTRDGVLPPYQDAKPPSPASIKKTYTTSKFNDAEPAKGNLFIGVEVLPENLHLD
  ESETSEEDHGSLEKEKYEQFLSLEEGTKAHYFFEKVVNAAQTWFSLFGWPEGPHSFSIPE
  TIRRDVYKMQFYSSTSPPQKFSRQNDFSKYNKTIYDVLLHLSGKMPPGINSSQSLPVDNH
  EKRVIQLHLQHSSLLDFLNAQGGCISHVLPEFLLEPEDYKRWIEIMSSTNTMPVSSCTPK
  KKCSIVIEMSKFEAWSKRAWTDVFLQIYKVLVLSRVVPYCSNNMPPICVQNTPKVNPCFA
  SSNIYSDSERILLSWMNINYENTRHVIWKNCHKDVIPSERWIVNFDKDLSDGLVFATQLG
  AYCPFLIESHFINMYTRPKSPEEYLHNCLIIVNTLYEIDFDVEIQATDICDPNPILMLML
  CVYMYERLPTYLPKKVVSFECTLHDTVLNKILLKNSSSRNLVYNARIVGRDAADFSLSQK
  GNVVTISPRNEINVTLKFTSRFIRPAEASLLLISKPKNAVRGITMTFALKGKVLDFKAID
  IIKCESPCYQFQEVTVNVKNPFHTAGDFSVILVESSTFVSSPTKLTESRQYPKHDDDMSS
  SGSDTDQGCSDSPNVLHTSIKSTFIREFFCSMHTVHLGVKGTSSLELRFLPFNMHVRYCV
  IILSNKKIGQLIYVAEGKGMTPLPSSCLPMNTSSSPVYYSTTREEGPNKKYPVLYLKCKP
  YQILYVDLKLPMTNEAKEKALAFAAQQQMSSIEYERRLITGTLESSSIRVAIALLGLTKI
  ETLMLFRISKLRKPKTVSYTTEVSLPKYFYIPEKISIPWIPEPQVIKLSKAKASDGSVPL
  PLQFLPLQSGRYPCKILLKSRYDVRAYYVEGIVNEEQPEAKFEFETPAFEALTQNIPIKN
  QTNDKWTFQVTIEGEWFYGPVDLHVGPDEIVEYPLTFKPIFECVITGKLILQNEVDGREH
  IFDIKGVGKKPSALEHITVECQVGNVTQKHITLPHFTNTALTFKVTADLPIVWGNPQITV
  YPYKEILYLIHVRPWKRGILKGTITFSTTRRCTTRRKHDDYEEDTDQDQALSCLDSITEQ
  SSILDDADTYGNFNNLRFWYNLEIHSTPGPPIEIMEMTCIALDSTCIEIPLSNPKDRGLH
  LEVQLTSAALNGDNEIILSPLQCTKYIVWYSPATTGYSDESIIFQPEMAEEFWYLLKLTI
  ELPKPTTMPEIQCDLGKHVTQIIPLVNCTHETLKLQVTNSNPENFVLDINRKSQLIISPH
  STTELPVLFYPSALGRADHQACINFYCTQFTEWKFYLSGVGLFPQPLDTERITTRIGLQS
  TIVIPFKNPTMEDVLIDIILTSVEHPRNLVMDHCWDSFIYESSAFRFSSPSEIQGIALPP
  KGNIDISLLFIPQIMKLHKTMVIIEMTKANGKYWPIDNFDELDIKFKSIVGIDSEEIQAI
  HWIYPIVGLPQAPPPKSPPVVIQCQSRKRAEEKVEIILNAGFFGFSLTPDLTEVLVIPKR
  NSHNFCEDPNEIPKIHEFEYEIQFESEAMKSKLESCVALYMIEKSYDIMAKRITFIFNLV
  FTPKKPLRSHITLKIECVTEGIWKFPIMLIATEPDTDAVIDIEGVGLFKESVFELRLKSQ
  TRNPEPFTAHFLPGSDLEFFVKPQAGELLPFNTNGTLITVGFKPKMYCRKYKATLVIQTE
  EMYWKYEINGLTPTTVPPKNAKAKIDATHKTHDNMPVRPHNFVRENTKLIRTGVSSTIKG
  APLVKNQ

• Sequence length: 3187

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure, X-linked, 3	Pathogenic	rs1940460729	RCV001291740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (13)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormality of neuronal migration	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFAP47-related disorder	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO LARGE-HEADED MULTIFLAGELLAR POLYPLOID SPERMATOZOA	—	Orphanet	33472045	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE	—	ClinGen, GWAS catalog	39698362	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	39698362	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	37723893	Associate	★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	38491953	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36896575	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36896575	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

DCDC1 2 shared diseasesKidney failure, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Kidney failure), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Kidney failure, Willis-ekbom disease — evidence mostly GWAS catalog. PKHD1 2 shared diseasesPolycystic kidney disease, Willis-ekbom disease 4 shared evidence sourcesGWAS catalog (Polycystic kidney disease), ClinGen (Polycystic kidney disease), Disgenet (Polycystic kidney disease), GWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Polycystic kidney disease, Willis-ekbom disease — evidence mostly GWAS catalog. GSTM2 2 shared diseasesKidney failure, Willis-ekbom disease 1 shared evidence sourceGWAS catalog (Willis-ekbom disease) Related via 2 shared diseases including Kidney failure, Willis-ekbom disease — evidence mostly GWAS catalog. RBBP7 1 shared diseaseSpermatogenic failure, x-linked 3 shared evidence sourcesClinVar (Spermatogenic failure, x-linked), HPO (Spermatogenic failure, x-linked), GenCC (Spermatogenic failure, x-linked) Related via 1 shared disease including Spermatogenic failure, x-linked — evidence mostly ClinVar. USP26 1 shared diseaseSpermatogenic failure, x-linked 3 shared evidence sourcesClinVar (Spermatogenic failure, x-linked), Disgenet (Spermatogenic failure, x-linked), HPO (Spermatogenic failure, x-linked) Related via 1 shared disease including Spermatogenic failure, x-linked — evidence mostly ClinVar.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
DCDC1	2	["Kidney failure","Willis-ekbom disease"]	0	[]	3	["GWAS catalog (Kidney disease)","GWAS catalog (Kidney failure)","GWAS catalog (Willis-ekbom disease)"]
PKHD1	2	["Polycystic kidney disease","Willis-ekbom disease"]	0	[]	4	["GWAS catalog (Polycystic kidney disease)","ClinGen (Polycystic kidney disease)","Disgenet (Polycystic kidney disease)","GWAS catalog (Willis-ekbom disease)"]
GSTM2	2	["Kidney failure","Willis-ekbom disease"]	0	[]	1	["GWAS catalog (Willis-ekbom disease)"]
RBBP7	1	["Spermatogenic failure, x-linked"]	0	[]	3	["ClinVar (Spermatogenic failure, x-linked)","HPO (Spermatogenic failure, x-linked)","GenCC (Spermatogenic failure, x-linked)"]
USP26	1	["Spermatogenic failure, x-linked"]	0	[]	3	["ClinVar (Spermatogenic failure, x-linked)","Disgenet (Spermatogenic failure, x-linked)","HPO (Spermatogenic failure, x-linked)"]

Diseases Linked via Similar Genes

Cardiovascular disease Linked via 2 of 5 related genesDCDC1, PKHD1 Major depressive disorder Linked via 2 of 5 related genesDCDC1, PKHD1 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesDCDC1 Bipolar disorder Linked via 1 of 5 related genesDCDC1 Central nervous system cancer Linked via 1 of 5 related genesDCDC1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cardiovascular disease	2	["DCDC1","PKHD1"]
Major depressive disorder	2	["DCDC1","PKHD1"]
Attention deficit hyperactivity disorder	1	["DCDC1"]
Bipolar disorder	1	["DCDC1"]
Central nervous system cancer	1	["DCDC1"]