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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	755
Gene name Gene Name - the full gene name approved by the HGNC.	Cilia and flagella associated protein 410
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CFAP410
Synonyms (NCBI Gene) Gene synonyms aliases	C21orf2, LRRC76, RDMS, SMDAX, YF5/A2
Chromosome Chromosome number	21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cone Dystrophy	cone dystrophy	rs140451304	N/A
retinal dystrophy	Retinal dystrophy	rs748531024, rs752395624, rs752137434, rs140451304, rs555164150	N/A
Retinal Dystrophy With Or Without Macular Staphyloma	retinal dystrophy with or without macular staphyloma	rs746633371, rs1457263136, rs763623409, rs922930539, rs774614339, rs1131690801	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1602071514, rs140451304, rs748531024	N/A
Spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia	rs778222701, rs1131690800, rs763623409, rs1602071514, rs140451304, rs922930539, rs555164150, rs1114167892, rs1114167893	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs1602071524	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis	N/A	N/A	GenCC, GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
cone-rod dystrophy	Cone-rod dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)