Details for: CFAP410
Associated with
Other Information
Genular Protein ID: 1028751522
Symbol: CF410_HUMAN
Name: C21orf-HUMF09G8.5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9465297
Title: Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.
PubMed ID: 9465297
PubMed ID: 10830953
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 9325172
Title: Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3.
PubMed ID: 9325172
PubMed ID: 19369195
Title: Large-scale proteomics analysis of the human kinome.
PubMed ID: 19369195
PubMed ID: 21834987
Title: Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration.
PubMed ID: 21834987
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 26290490
Title: The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
PubMed ID: 26290490
DOI: 10.1093/abbs/gmv076
PubMed ID: 26294103
Title: C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
PubMed ID: 26294103
PubMed ID: 26167768
Title: An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
PubMed ID: 26167768
DOI: 10.1038/ncb3201
PubMed ID: 27548899
Title: Identification of novel mutations in the LRR-Cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and Cone-Rod Dystrophy.
PubMed ID: 27548899
PubMed ID: 26974433
Title: Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations.
PubMed ID: 26974433
PubMed ID: 28422394
Title: Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
PubMed ID: 28422394
DOI: 10.1002/ajmg.a.38215
Sequence Information:
- Length: 256
- Mass: 28340
- Checksum: D33F31EDAEA77D2A
- Sequence:
MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN SISTLEPVSR CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC GTSPHRYRMT VLRTLPRLQK LDNQAVTEEE LSRALSEGEE ITAAPEREGT GHGGPKLCCT LSSLSSAAET GRDPLDSEEE ATSGAQDERG LKPPSRGQFP SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG SRLQALRGEE VQEHAE
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.