CFAP410 (cilia and flagella associated protein 410)

2018-11-01  

Identity

HGNC
CFAP410
LOCATION
21q22.3
LOCUSID
755
ALIAS
C21orf2,LRRC76,RDMS,SMDAX,YF5/A2

Other Information

Locus ID:

NCBI: 755
MIM: 603191
HGNC: 1260
Ensembl: ENSG00000160226

Variants:

dbSNP: 755
ClinVar: 755
TCGA: ENSG00000160226
COSMIC: CFAP410

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160226ENST00000325223O43822
ENSG00000160226ENST00000339818O43822
ENSG00000160226ENST00000397956O43822

References

Pubmed IDYearTitleCitations
274553482016Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.96
262904902015The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.11
150682442003Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain.5
269744332016Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.5
275488992016Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.3
284223942017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.3
262941032015C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.2

Citation

Dessen P

CFAP410 (cilia and flagella associated protein 410)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57670/cfap410