Property Summary

NCBI Gene PubMed Count 15
Grant Count 19
R01 Count 5
Funding $1,985,442.9
PubMed Score 37.37
PubTator Score 7.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -1.500 0.000
osteosarcoma -1.177 0.000

Gene RIF (4)

PMID Text
26974433 Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation
26294103 This retinal dystrophy phenotype is caused by recessive mutations in C21orf2 and can be considered a retinal ciliopathy as C21orf2 encodes a protein that localises to photoreceptor ciliary structures.
26290490 C21ORF2 functions in the same pathway as NEK1 in DNA damage repair.
15068244 Downregulated protein level of C21orf2 in adult brain of patients with Down syndrome (DS) in contrast to Alzheimer's disease indicates that it can be considered specific for changes in DS.

AA Sequence

MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLR      1 - 70
RNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEE     71 - 140
ITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSS    141 - 210
HRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE                            211 - 256
//

Text Mined References (17)

PMID Year Title
26974433 2016 Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
26294103 2015 C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
26290490 2015 The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
26167768 2015 An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
25416956 2014 A proteome-scale map of the human interactome network.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21834987 2011 Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.
19369195 2009 Large-scale proteomics analysis of the human kinome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
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