Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	755
Gene name	Cilia and flagella associated protein 410
Gene symbol	CFAP410
Synonyms (NCBI Gene)	C21orf2LRRC76RDMSSMDAXYF5/A2
Chromosome	21
Chromosome location	21q22.3
Summary	Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide,

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140451304	C>G,T	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs141195315	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs555164150	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs567435284	C>A,G,T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs746633371	CGTGGCCTGTGCCCTCTCTCTCTGGGGCCGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs748531024	->TGCACGCTGTGCAGCT	Pathogenic, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant, upstream transcript variant
rs763623409	A>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs778222701	C>T	Pathogenic	Splice donor variant
rs922930539	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057518441	C>T	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1114167892	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1114167893	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs1131690800	T>A	Pathogenic	Intron variant
rs1131690801	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1457263136	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1602071514	C>G	Pathogenic	Splice acceptor variant
rs1602071524	T>C	Pathogenic	Splice acceptor variant
rs1602079250	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IDA	27548899
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26167768, 26290490, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21834987, 26290490
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	9325172
GO:0005739	Component	Mitochondrion	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	21834987
GO:0006974	Process	DNA damage response	IEA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0036064	Component	Ciliary basal body	IDA	26167768, 26294103
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA

MIM	HGNC	e!Ensembl
603191	1260	ENSG00000160226

O43822

Protein name

Cilia- and flagella-associated protein 410 (C21orf-HUMF09G8.5) (Leucine-rich repeat-containing protein 76) (YF5/A2)

Protein function

Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490). {ECO:0000250|UniProtKB:Q8C6G1

PDB

8AXR

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:26974433, PubMed:9325172). Expressed in the retina (PubMed:26294103).

Sequence

MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSR
CQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQK
LDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEE
ATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG
SRLQALRGEEVQEHAE

Sequence length

256

Interactions

View interactions

146

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Axial spondylometaphyseal dysplasia	Pathogenic; Likely pathogenic	rs762237699, rs2146057228, rs1602093658, rs140451304, rs1114167892, rs1114167893, rs778222701, rs1131690800, rs763623409, rs922930539, rs555164150, rs748531024, rs1602071514	RCV005860272 RCV002238696 RCV003989239 RCV000492059 RCV000492049 RCV000492056 RCV000492054 RCV000492061 RCV000492051 RCV000492055 RCV000492060 RCV005632431 RCV002236069
CFAP410-related disorder	Likely pathogenic; Pathogenic	rs140451304, rs748531024	RCV003409679 RCV004752924
Cone dystrophy	Likely pathogenic; Pathogenic	rs140451304	RCV000504995
Leber congenital amaurosis	Pathogenic	rs1602071524	RCV001002898
Retinal dystrophy	Likely pathogenic; Pathogenic	rs756970705, rs752137434, rs140451304, rs555164150, rs748531024, rs752395624	RCV004815694 RCV004816829 RCV001075775 RCV001073670 RCV000505076 RCV001074619 RCV001074149
Retinal dystrophy with or without macular staphyloma	Likely pathogenic; Pathogenic	rs756970705, rs752137434, rs2047687010, rs1568986041, rs2518051350, rs770130993, rs1568992782, rs140451304, rs746633371, rs763623409, rs922930539, rs1131690801, rs748531024, rs1457263136, rs774614339	RCV003225980 RCV003483869 RCV004011296 RCV003389578 RCV003492882 RCV003492885 RCV004584577 RCV001376208 RCV000492057 RCV003227769 RCV003227770 RCV000492052 RCV005632431 RCV003483679 RCV003483780
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs140451304, rs748531024, rs1602071514	RCV000504803 RCV000504882 RCV001002897
See cases	Likely pathogenic; Pathogenic	rs774614339	RCV001420278

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amyotrophic lateral sclerosis	Uncertain significance	rs746114248	RCV001260193
Cervical cancer	Benign; Uncertain significance	rs200748945, rs148553252	RCV005910641 RCV005913564
Clear cell carcinoma of kidney	Benign	rs200748945	RCV005910642
Colorectal cancer	Benign; Likely benign	rs2070573, rs776633338	RCV005911355 RCV005903204
Cone-rod dystrophy	Uncertain significance	rs1602086030, rs1602079250	RCV003389602 RCV002267748
Familial cancer of breast	Benign	rs2070573, rs200748945	RCV005911354 RCV005910640
Malignant tumor of esophagus	Benign	rs9306098	RCV005919597
Ovarian serous cystadenocarcinoma	Benign	rs200748945	RCV005910643
Thymoma	Benign	rs9306098, rs200748945	RCV005919598 RCV005910645
Thyroid cancer, nonmedullary, 1	Benign	rs200748945	RCV005910646
Uterine carcinosarcoma	Benign	rs2070573, rs200748945	RCV005911356 RCV005910644
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs9306098, rs148553252	RCV005919599 RCV005913565

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	27455348
Down Syndrome	Associate	26290490
Genetic Diseases Inborn	Associate	26290490
Jeune syndrome	Associate	26974433
Neoplasms	Associate	12384809
Pyle disease	Associate	26974433
Retinal Degeneration	Associate	26974433
Retinal Dystrophies	Associate	23105016
Salivary Gland Diseases	Associate	39331939
Sjogren's Syndrome	Stimulate	39331939
Spondylometaphyseal dysplasia axial	Associate	26974433

CFAP410 (cilia and flagella associated protein 410)