Property Summary

NCBI Gene PubMed Count 20
PubMed Score 9.22
PubTator Score 90.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.600 4.9e-07
psoriasis -1.100 2.0e-03
ependymoma 1.400 1.2e-10
glioblastoma 1.400 1.2e-03
sonic hedgehog group medulloblastoma 1.800 4.5e-08
atypical teratoid/rhabdoid tumor 1.900 8.5e-14
medulloblastoma, large-cell 1.500 1.7e-06
lung cancer 3.100 9.0e-06
pediatric high grade glioma 1.400 1.5e-05
pilocytic astrocytoma 1.100 6.2e-09

 GWAS Trait (1)

Gene RIF (6)

PMID Text
24304693 C2ORF3 protein is required for pre-mRNA splicing through its presumable role in efficient intron turnover
20846247 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20189245 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17309879 Observational study of gene-disease association. (HuGE Navigator)
17309879 Study refined the 2p12 candidate region in two populations and report evidence supporting MRPL19 and C2ORF3 as candidate susceptibility genes for dyslexia.

AA Sequence

MAHRPKRTFRQRAADSSDSDGAEESPAEPGAPRELPVPGSAEEEPPSGGGRAQVAGLPHRVRGPRGRGRV      1 - 70
WASSRRATKAAPRADEGSESRTLDVSTDEEDKIHHSSESKDDQGLSSDSSSSLGEKELSSTVKIPDAAFI     71 - 140
QAARRKRELARAQDDYISLDVQHTSSISGMKRESEDDPESEPDDHEKRIPFTLRPQTLRQRMAEESISRN    141 - 210
EETSEESQEDEKQDTWEQQQMRKAVKIIEERDIDLSCGNGSSKVKKFDTSISFPPVNLEIIKKQLNTRLT    211 - 280
LLQETHRSHLREYEKYVQDVKSSKSTIQNLESSSNQALNCKFYKSMKIYVENLIDCLNEKIINIQEIESS    281 - 350
MHALLLKQAMTFMKRRQDELKHESTYLQQLSRKDETSTSGNFSVDEKTQWILEEIESRRTKRRQARVLSG    351 - 420
NCNHQEGTSSDDELPSAEMIDFQKSQGDILQKQKKVFEEVQDDFCNIQNILLKFQQWREKFPDSYYEAFI    421 - 490
SLCIPKLLNPLIRVQLIDWNPLKLESTGLKEMPWFKSVEEFMDSSVEDSKKESSSDKKVLSAIINKTIIP    491 - 560
RLTDFVEFLWDPLSTSQTTSLITHCRVILEEHSTCENEVSKSRQDLLKSIVSRMKKAVEDDVFIPLYPKS    561 - 630
AVENKTSPHSKFQERQFWSGLKLFRNILLWNGLLTDDTLQELGLGKLLNRYLIIALLNATPGPDVVKKCN    631 - 700
QVAACLPEKWFENSAMRTSIPQLENFIQFLLQSAHKLSRSEFRDEVEEIILILVKIKALNQAESFIGEHH    701 - 770
LDHLKSLIKED                                                               771 - 781
//

Text Mined References (28)

PMID Year Title
24304693 2014 Identification of a novel component C2ORF3 in the lariat-intron complex: lack of C2ORF3 interferes with pre-mRNA splicing via intron turnover pathway.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22745009 2012 Multiple loci influencing hippocampal degeneration identified by genome scan.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20846247 2011 Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20189245 2010 Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17309879 2007 A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10500253 1999 Molecular analysis of the GCF gene identifies revisions to the cDNA and amino acid sequences(1).
10480038 1999 [Revisions of the cDNA and primary protein structure of human transcription factor GCF].
9705290 1998 Molecular cloning and characterization of a transcription regulator with homology to GC-binding factor.
2556218 1989 Molecular cloning and characterization of a human DNA binding factor that represses transcription.
1370479 1992 Expression and chromosomal localization of the gene for the human transcriptional repressor GCF.