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	157657
Gene name	Cilia and flagella associated protein 418
Gene symbol	CFAP418
Synonyms (NCBI Gene)	BBS21C8orf37CORD16FAP418MOT25RP64smalltalk
Chromosome	8
Chromosome location	8q22.1
Summary	This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pig

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143893647	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387907136	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907137	T>C	Pathogenic	Coding sequence variant, missense variant
rs748014296	C>T	Pathogenic	Coding sequence variant, stop gained
rs766087213	T>A	Pathogenic	Coding sequence variant, stop gained
rs1060505042	T>G	Pathogenic	Splice acceptor variant
rs1064792852	A>C,T	Pathogenic	Coding sequence variant, stop gained
rs1064792853	T>C	Pathogenic	Splice acceptor variant
rs1587357327	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	27173435, 36233334
GO:0005737	Component	Cytoplasm	IDA	22177090
GO:0005737	Component	Cytoplasm	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	ISS
GO:0097546	Component	Ciliary base	IDA	22177090

MIM	HGNC	e!Ensembl
614477	27232	ENSG00000156172

Q96NL8

Protein name

Cilia- and flagella-associated protein 418

Protein function

May be involved in photoreceptor outer segment disk morphogenesis (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14996	RMP	55 → 207	Retinal Maintenance	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level). {ECO:0000269|PubMed:22177090}.

Sequence

MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKE
DDLDSLINEILEEPNLDKKPSKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGT
NISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNMPEFHKLKAKLIKKKGTRAYA
CQCSWRTIEEVTDLQTDHQLRWVCGKH

Sequence length

207

Interactions

View interactions

300

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs387907136	RCV001257837
Bardet-biedl syndrome 21	Likely pathogenic; Pathogenic	rs1811931460, rs1563477144, rs387907136, rs766087213, rs1587357327, rs751922029	RCV002493925 RCV001536033 RCV000477682 RCV000477690 RCV001000090 RCV001000091
CFAP418-related disorder	Likely pathogenic; Pathogenic	rs1060505042	RCV004730951
Cone-rod dystrophy 16	Likely pathogenic; Pathogenic	rs1811931460, rs1563477144, rs2537139887, rs1064792853, rs387907136, rs1085307121, rs1811856716	RCV002493925 RCV001536033 RCV004557235 RCV000024192 RCV000024193 RCV000477722 RCV001196598
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2537139887, rs387907136	RCV004818464 RCV004794345
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1811931460, rs1563477144, rs387907136, rs387907137	RCV002493925 RCV001536033 RCV001002908 RCV001002907
Retinitis pigmentosa 64	Pathogenic; Likely pathogenic	rs1064792852, rs387907137, rs1060505042, rs748014296	RCV000024191 RCV000024194 RCV000477709 RCV000477743

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs35141355	RCV005899415
Cervical cancer	Conflicting classifications of pathogenicity	rs35141355	RCV005899418
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs35141355	RCV005899414
Cone-Rod Dystrophy, Recessive	Uncertain significance	rs561198464, rs368472866	RCV000286862 RCV000338786
Gastric cancer	Conflicting classifications of pathogenicity	rs35141355	RCV005900412
Lung cancer	Conflicting classifications of pathogenicity	rs35141355	RCV005900418
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs35141355	RCV005899416
Melanoma	Conflicting classifications of pathogenicity	rs35141355	RCV005900417
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs35141355	RCV005899417
Ovarian cancer	Likely benign	rs756845953	RCV005929982
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs35141355	RCV005900413
Retinitis Pigmentosa, Recessive	Uncertain significance	rs561198464, rs368472866	RCV000339626 RCV000281085
Sarcoma	Conflicting classifications of pathogenicity	rs35141355	RCV005900411
Thymoma	Conflicting classifications of pathogenicity	rs35141355	RCV005900415
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs35141355	RCV005900416
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs35141355	RCV005900414

CFAP418 (cilia and flagella associated protein 418)