Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	85452
Gene name	Cilia and flagella associated protein 74
Gene symbol	CFAP74
Synonyms (NCBI Gene)	C1orf222CILD49KIAA1751
Chromosome	1
Chromosome location	1p36.33

59 Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT740616	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT740617	hsa-miR-3691-3p	HITS-CLIP	19536157
MIRT740618	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT740619	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT740620	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT740621	hsa-miR-3176	HITS-CLIP	19536157
MIRT740622	hsa-miR-3922-3p	HITS-CLIP	19536157
MIRT740623	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT740624	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT740625	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT740626	hsa-miR-3649	HITS-CLIP	19536157
MIRT740627	hsa-miR-653-3p	HITS-CLIP	19536157
MIRT740628	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT740616	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT740617	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT740618	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT740619	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT740620	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT740621	hsa-miR-3176	HITS-CLIP	23824327
MIRT740622	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT740623	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT740624	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT740625	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT740626	hsa-miR-3649	HITS-CLIP	23824327
MIRT740627	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT740628	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT740616	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT740617	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT740618	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT740619	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT740620	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT740621	hsa-miR-3176	HITS-CLIP	23824327
MIRT740622	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT740623	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT740624	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT740625	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT740626	hsa-miR-3649	HITS-CLIP	23824327
MIRT740627	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT740628	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT740616	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT740617	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT740618	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT740619	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT740620	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT740621	hsa-miR-3176	HITS-CLIP	23824327
MIRT740622	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT740623	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT740624	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT740625	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT740626	hsa-miR-3649	HITS-CLIP	23824327
MIRT740627	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT740628	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT740616	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT740617	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT740618	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT740619	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT740623	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT740626	hsa-miR-3649	HITS-CLIP	23824327
MIRT740627	hsa-miR-653-3p	HITS-CLIP	23824327

11 Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005634	Component	Nucleus	IMP	34999892
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	34999892
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	ISS
GO:0036126	Component	Sperm flagellum	IMP	32555313
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
620187	29368	ENSG00000142609

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	Q9C0B2
Protein name	Cilia- and flagella-associated protein 74
Protein function	As part of the central apparatus of the cilium axoneme may play a role in cilium movement. May play an important role in sperm architecture and function.
Family and domains
Sequence	MEDDGSLLPEDELLADALLLEDERDELEDPEFDIKCLLQEAEDDVDPGHSSSVKELDTDA DKLKKKTAEDRTQAFHLRQNLSALDKMHEEQELFTEKMRGELRACRQRRDLIDKQQEAVA AEIATEEEAGNMAAVGRLQAVSRRLFAELENERDLQSRTEAVLKESENTMWHIEIQEGRL EAFRTADREEVEATGRRLQVRAAEQLCREQEALGKVERNRLLRIRKSLNTQKELGLRHQK LLEDARKNHKVAVRFLKASLGRIREQEKKEEMECHEYMRRRMDAVVALKGSISANRDTLR KFQAWDRAKAELAEQRVQAEKKAILAQGRDAFRHLVHQRRRQELEAQKRAFEEEQKLRKQ EIISRILKEEAEEEKRKKQHPPTSARHRLTLRDKTWNYISDFCKKTTVPTNTYTLDYEAA AGPGPSRLLEVVSSELIQGDPGASSEEETLAEPEISGLWNEDYKPYQVPKEDVDRKPVGG TKMDKDILERTVERLRSRVVHKQVVWGREFQGRPFNSKPELLHFQDFDIGKVYKKKITLV NTTYTINYCKLVGVEEHLRDFIHVDFDPPGPLSAGMSCEVLVTFKPMINKDLEGNISFLA QTGEFSVPLKCSTKKCSLSLDKELIDFGSYVVGETTSRTITLTNVGGLGTTFKFLPASEP CEMDDSQSALKLSSLLTYEDKSLYDKAATSFSEQQLEGTESSQADMQSRKELEKLDKEQE EEQPAEPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARFKVT FKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRLKFEV CKELRAHLELLPKTGYIQAQSSYSVQLKFLPRHSLPEDAGRYFDKETRVLEAPMTIWVAD QNKPVGFTVHAIVTTSDLELSPSEVDFGYCTIYEAIRTEISLHNHSLLPQEFGFVRLPKF VDVQPNDGFGTILPLETLQFCVIFQPTKAEEHRFQLTCKSEINRCFKLSCRAVGVHPPLE LSHYQIKFAATALYDTSVATVYVINSHLSMSSPTHSKPRIGSEDASPMGPTSFEFLLPPD SPITISPSVGTVWPGKRCLVQVAFRPVLPEKLIRQEALPLLNKEMETKSFRKNMAPQRKD LHGLSFSVLRAQNRDKLFKVSVPHVLEMRKRELRPSSDEYQAARATLLRAFQAKFDTFVV PCVVASGDIKDRKGSEPLSFSPHNTLYLELWCPTVAPSVVVTSHKGKTIFNFGDVAVGHR SIKKISIQNVSPEDLALDFSLLNPNGPFVLLNHSSLLRAGGTQVLVLSFSPHESILAQET LDIITKRGTLTLTLMGTGVASMITCSIEGSVLNMGYVIAGESVSSGFKLQNNSLLPIKFS MHLDSLSSTRGRGQQQLPQFLSSPSQRTEVVGTQNLNGQSVFSVAPVKGVMDPGKTQDFT VTFSPDHESLYFSDKLQVVLFEKKISHQILLKGAACQHMMFVEGGDPLDVPVESLTAIPV FDPRHREEAEELRPILVTLDYIQFDTDTPAPPATRELQVGCIRTTQPSPKKPDHPLMVSA LLQLRGDVKETYKVIFVAQVLTGP
Sequence length	1584
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
Ciliary dyskinesia, primary, 49, without situs inversus	Pathogenic; Likely pathogenic	rs570149409, rs559543526, rs533425606, rs755467514, rs578234038, rs1406976795, rs761237701	RCV003152338 RCV003152339 RCV003152340 RCV003152341 RCV003152342 RCV003152343 RCV003152344 View all (2 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 (12)
CFAP74-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	40229280	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	40229280	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	27770636	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA	—	Disgenet, Orphanet Disgenet, Orphanet	36047773	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ 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
Epilepsy	Epilepsy	Pubtator	27878761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	27878761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CFAP74 (cilia and flagella associated protein 74)

Bookmark This Gene