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C2orf3

Written2017-05Masato Takimoto, Mao Peizhong
Institute for Genetic Medicine, Hokkaido University, Sapporo, Japan; takimoto@igm.hokudai.ac.jp (MT); Dept of Cell Developmental and Cancer Biology, School of Medicine and Division of Neuroscience, Oregon National Primate Research Center, Oregon Health & Science University, Oregon, USA maop@ohsu.edu (MP)

Abstract Review on C2orf3, with data on DNA, on the protein encoded, and where the gene isimplicated.

Keywords post-splicing, turnover of mRNA, lariat intron, dyslexia

(Note : for Links provided by Atlas : click)

Identity

Alias_namesTCF9
C2orf3
transcription factor 9 (binds GC-rich sequences)
chromosome 2 open reading frame 3
Alias_symbol (synonym)DNABF
GCF
Other aliasGCFC2?GC-rich sequence DNA-binding factor 2
HGNC (Hugo) GCFC2
LocusID (NCBI) 6936
Atlas_Id 54327
Location 2p12  [Link to chromosome band 2p12]
Location_base_pair Starts at 75662706 and ends at 75710606 bp from pter ( according to hg19-Feb_2009)  [Mapping GCFC2.png]
 
  Structural Relation among C2orf3, GCF and GCF2. GCF is an artificial cDNA composed of GCF2 and C2orf3
Note C2orf3 gene was discovered as a C-terminal side of GCF cDNA, which is an artificial chimeric one (Kageyama and Pastan, 1989;Takimoto et al., 1999) . As C2orf3 protein is a factor that plays a role in splicing of mRNA (Yoshimoto et al., 2014) and the protein encoded by a N-terminal side of GCF cDNA, which is a bona fide transcriptional repressor termed GCF2, binds to the GC rich element of DNA (Reed et al., 1998), the nomenclature of this gene as GCFC2 is inappropriate.
Major data bases, such as provided by University of California Santa Cruz (UCSC), National Center for Biotechnology Information (NCBI) and Hugo Gene Nomenclature Committee (HGNC), use GCFC2 to describe this gene. For example, UCSC genome browser describes this gene as GCFC2, which is present next to MRP19 gene in the chromosomal 2p12 region (Anthoni et al., 2007).
As C2orf3 does not bind to the GC-rich sequence (Takimoto et al., 1999), the use of the term GCFC2 for this gene is misleading and we think it should not be used.

DNA/RNA

Description Genomic DNA
Genomic size of DNA is about 50 kbp and consists of 17 exons. >
cDNA
GCF was originally discovered as a gene that encodes a transcriptional repressor that binds to a GC-rich sequence of the regulatory regions of human EGF-R gene (Kageyama and Pastan, 1989). However, a following study showed that GCF cDNA is an artificial fusion molecule between two different cDNAs; The 5' side of the cDNA encodes a highly basic region with the sequence-specific binding activity to the GC-rich region and the 3' side encodes most of C2orf3 protein (Takimoto et al., 1999). Reed et al. cloned a full length of the former cDNA that has transcriptional repressor activity with the sequence-specific DNA binding ability, and named this cDNA as GCF2. Following studies had confirmed the transcriptional repressive activity of GCF2 ( Shibutani M et al., 1998: Khachigian LM et al., 1999). The full length of C2orf3 cDNA was cloned and its sequence was determined. The cDNA is composed of 2661 nucleotides and encodes a protein of 781 amino acids. The encoded protein does not contain the highly basic region of the published GCF and has no sequence-specific DNA binding activity to the GC-rich sequence (Takimoto et al., 1999)
cDNA sequence: ( GenBank : AB026911 )
GGGCGGGCACTGAAGCTGCGGCTTGCGGTTCAGCGGGTTCTAGGGCGCCGGGCGCTCGGGCCTCGGCCATGGCTCACAGGCCGAAAAGGACTTTTCGGCA
GCGCGCGGCTGATTCCAGCGACAGCGATGGCGCCGAGGAGTCGCCTGCTGAGCCTGGGGCGCCGAGGGAACTTCCGGTCCCGGGTTCTGCGGAGGAAGAG
CCGCCCTCTGGAGGAGGCCGCGCGCAGGTGGCGGGACTGCCCCACCGGGTTCGGGGCCCTCGTGGCCGGGGCCGGGTCTGGGCGAGCTCCCGGCGTGCCA
CCAAAGCGGCTCCCCGCGCGGACGAAGGCTCAGAATCCAGAACCCTTGATGTGTCCACAGATGAAGAGGATAAAATACATCACTCCTCAGAAAGTAAGGA
TGATCAGGGTTTGTCTTCTGACAGTTCTAGCTCTCTTGGAGAAAAAGAACTTTCATCAACAGTTAAGATCCCAGATGCAGCTTTTATTCAGGCAGCCCGC
AGAAAACGTGAATTGGCCAGGGCCCAAGATGACTATATTTCTTTGGATGTACAACATACCTCCTCCATCTCTGGTATGAAGAGAGAGAGCGAAGATGACC
CTGAGAGTGAGCCTGATGACCATGAAAAGAGAATACCATTTACTCTAAGACCTCAAACACTTAGACAAAGGATGGCTGAGGAATCAATAAGCAGAAATGA
AGAAACAAGTGAAGAAAGTCAGGAAGATGAAAAGCAAGATACTTGGGAACAACAGCAAATGAGGAAAGCAGTTAAAATCATAGAGGAAAGAGACATAGAT
CTTTCCTGTGGCAGTGGATCTTCAAAAGTGAAGAAATTTGATACTTCCATTTCATTTCCGCCAGTAAATTTAGAAATTATAAAGAAGCAATTAAATACTA
GATTAACATTACTACAGGAAACTCACCGCTCACACCTGAGGGAGTATGAAAAATACGTACAAGATGTCAAAAGCTCAAAGAGTACCATCCAGAACCTAGA
GAGTTCATCAAATCAAGCTCTAAATTGTAAATTCTATAAAAGCATGAAAATTTATGTGGAAAATTTAATTGACTGCCTTAATGAAAAGATTATCAACATC
CAAGAAATAGAATCATCCATGCATGCACTCCTTTTAAAACAAGCTATGACCTTTATGAAACGCAGGCAAGATGAATTAAAACATGAATCAACGTATTTAC
AACAGTTATCACGCAAAGATGAGACATCCACAAGTGGAAACTTCTCAGTAGATGAAAAAACTCAGTGGATTTTAGAAGAGATTGAATCTCGAAGGACAAA
AAGAAGACAAGCAAGGGTGCTTTCTGGGAATTGTAACCATCAGGAAGGAACATCTAGTGATGATGAACTGCCTTCAGCAGAGATGATTGACTTCCAAAAA
AGCCAAGGTGACATTTTACAGAAACAGAAGAAAGTTTTTGAAGAAGTGCAAGATGATTTTTGTAACATCCAGAATATTTTGTTGAAATTTCAGCAATGGC
GAGAAAAGTTTCCTGACTCCTATTATGAAGCTTTCATTAGTTTATGCATACCAAAGCTTTTAAATCCCCTAATACGAGTTCAGTTGATTGATTGGAATCC
TCTTAAGTTGGAATCCACAGGTTTAAAAGAGATGCCATGGTTCAAATCTGTAGAAGAATTTATGGATAGCAGTGTAGAAGATTCAAAGAAGGAAAGTAGT
TCAGATAAAAAAGTCTTGTCTGCAATCATCAACAAAACAATTATTCCCCGACTTACAGACTTTGTAGAATTCCTTTGGGATCCTTTGTCAACCTCACAGA
CAACAAGTTTAATAACACATTGCAGAGTGATTCTTGAAGAACATTCCACTTGTGAAAATGAAGTTAGTAAAAGCAGACAGGATTTACTTAAATCCATTGT
TTCAAGAATGAAAAAGGCAGTAGAAGATGATGTTTTTATTCCTCTGTATCCAAAGAGTGCTGTAGAAAACAAAACATCACCTCATTCAAAGTTCCAAGAA
AGACAGTTCTGGTCAGGCCTAAAGCTCTTCCGCAATATTCTTCTTTGGAATGGACTCCTTACAGATGACACCTTGCAAGAACTAGGACTAGGGAAGCTGC
TAAATCGTTACCTTATTATAGCACTTCTCAATGCCACACCTGGGCCAGATGTGGTTAAAAAGTGCAACCAGGTAGCAGCATGTCTACCAGAAAAATGGTT
TGAAAATTCTGCCATGAGGACATCTATTCCACAGCTAGAAAACTTCATTCAGTTTTTATTGCAGTCTGCACATAAATTATCTAGAAGTGAATTCAGGGAT
GAAGTCGAAGAAATAATTCTTATTTTGGTGAAAATAAAAGCTTTGAATCAAGCAGAATCCTTCATAGGAGAGCATCACCTAGACCATCTTAAATCACTAA
TTAAAGAAGATTGAATAAACTTTATTGGAAAATGCTAAAATTTTAATATAGTTACACTCAGTTCCTTTGTTTGAGAAGAAGCTGGTGCCTCTCTCTTCTT
TATTCCCTGTAATAGAAGGTAGGATTTGAAAAAAAGCAGGACTCCACCTCTGTATTCCCCCGTGCTTTACCTTCTGGCATCATGAAAAGCTGCCATGATT
CTGTGGTGTTCTAAGGAATTAAATGCACTGGAGCTTTAAGAGCTCAACGTGTTTCCCTTTG
Transcription It is suggested that MRPL1 gene which is located closely to C2orf3 with head-head orientation and that they are co-regulated (Anthoni et al., 2007). There are several alternative spliced forms for mRNA expression: The initial report on a cDNA that encompass the full coding region is 2661bp in length (Takimoto et al., 1999).

Protein

Description Encodes 781 amino acids
Amino acid sequence: (Uniprot : P16383)
MAHRPKRTFRQRAADSSDSDGAEESPAEPGAPRELPVPGSAEEEPPSGGGRAQVAGLPHRVRGPRGRGRVWASSRRATKAAPRADEGSESRTLDVSTDEE
DKIHHSSESKDDQGLSSDSSSSLGEKELSSTVKIPDAAFIQAARRKRELARAQDDYISLDVQHTSSISGMKRESEDDPESEPDDHEKRIPFTLRPQTLRQ
RMAEESISRNEETSEESQEDEKQDTWEQQQMRKAVKIIEERDIDLSCGSGSSKVKKFDTSISFPPVNLEIIKKQLNTRLTLLQETHRSHLREYEKYVQDV
KSSKSTIQNLESSSNQALNCKFYKSMKIYVENLIDCLNEKIINIQEIESSMHALLLKQAMTFMKRRQDELKHESTYLQQLSRKDETSTSGNFSVDEKTQW
ILEEIESRRTKRRQARVLSGNCNHQEGTSSDDELPSAEMIDFQKSQGDILQKQKKVFEEVQDDFCNIQNILLKFQQWREKFPDSYYEAFISLCIPKLLNP
LIRVQLIDWNPLKLESTGLKEMPWFKSVEEFMDSSVEDSKKESSSDKKVLSAIINKTIIPRLTDFVEFLWDPLSTSQTTSLITHCRVILEEHSTCENEVS
KSRQDLLKSIVSRMKKAVEDDVFIPLYPKSAVENKTSPHSKFQERQFWSGLKLFRNILLWNGLLTDDTLQELGLGKLLNRYLIIALLNATPGPDVVKKCN
QVAACLPEKWFENSAMRTSIPQLENFIQFLLQSAHKLSRSEFRDEVEEIILILVKIKALNQAESFIGEHHLDHLKSLIKED
Expression C2orf3 protein with molecular weight of 89 kD are observed in human cancer cell line, and localizes in nucleoplasm and nucleolus.
Function C2orf3 plays a role in pre-mRNA splicing, by forming a complex with DHX15 (hPrp43) and TFIP11 (Yoshimoto et al., 2014). As these proteins are present in post-splicing intron complex, C2orf3 protein may play a role in post-splicing turnover of mRNA. The study with and antibody specific to C2ofr3 protein showed that this protein is present nucleoplasm and nucleoli.
After splicing reaction, pre-mRNA releases intron RNA complex, which contains uridine-rich small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) PRPF19complex, hnRNP proteins and TFIP11. A RNA helicase hPrp43 removes the several factors from the complex, leaving lariat RNA intron, which is then subject to linearization by a debranching enzyme DBR1 (Wen et al., 2008; Yoshimoto et al., 2009).C2orf3 protein was shown to form a complex with tuftelin-interacting protein (TFIP11) and hPrp43, which play a role in post-splicing turnover of mRNA. Through its amino terminal, TFIP11 binds to a RNA helicase hPrp43 that plays a role in the dissociation of snRNAs from a lariat intron in vitro. C2orf3 preferentially associates with lariat intron in the splicing reaction and C2orf3-deleted nuclear extracts showed a significant repression of splicing of pre-mRNA in vitro (Yoshimoto et al., 2014). The presence of C2orf3 protein in nucleoli suggest a potential role in rRNA processing/or nucleoli structure (Yoshimoto et al., 2014).

Implicated in

Note Although it is not conclusive, C2orf3 is suggested to be a causing gene for dyslexia.
  
Entity Dyslexia
Note The locus containing the C2orf3 gene on Chromosome 2p12 has been shown to link to dyslexia. It had been reported that the genomic regions responsive for human dyslexia, such DYXC1/EKN1, KIAA0319 and DCDC, and RUBO1, are located on human chromosome 15, 6 and 3, respectively (McGrath et al., 2006). In 1999, It was shown that a new region for dyslexia, DYX3, on human chromosome 2 was identified (Fagerheim et al., 1999). Subsequently, a study on Finnish and German families disclosed that DYX3 was present on chromosome 2p12, spanning 157 kbp. It was shown that there are only three genes, FLJ1339, MRPL1 and C2ORF3, in this region and that the latter two genes are closely located with positions in a head-to-head manner respective for transcriptional orientation, suggesting that both genes are transcriptionally co-regulated (Anthoni et al., 2007). Further analyses on several affected families revealed an overlapping region with risk haplotype within the 157 kbp region, delineating to 16 kbp, which located in an intergenic region between FLJ1339 and MRPL1/C2ORF3 genes. There is no SNP marker in the coding regions of MRPL1 and C2ORF3 genes by which coding change correlated with dyslexia, and the expressions of both genes are significant lower in carriers with risk haplotype compared with non-carriers. These results suggested that the 16 kbp region plays a role for transcriptional regulatory element and mutation in this element might lead to reduced expression of the genes, which could be a cause of dyslexia. While the expression of FLJ1339 in human brain, the expressions of MRPL1/C2ORF3 are high and significantly correlated with those of other dyslexia candidate genes of whichexpressions are also high in brain. Especially, the expression of C2ORF3 was correlated across the different parts of brain with those of other dyslexia candidate genes, DYXC1, RUBO1 and DCDC2 (Anthoni et al., 2007). Neuroimaging analyses revealed a significant association between a SNP marker and white matter volume of the posterior parts of the corpus callosum and cingulum (Scerri et al., 2012). In contrary to the studies described above, the studies on the populations of Australia and Inida showed non-significant association for the SNP marker for MRPL1/C2ORF3 with dyslexia (Paracchini et al., 2011 : Venkatesh et al., 2013).
  

To be noted

Previouly described GCF cDNA is an artificial fusion molecule between two different cDNAs, in which the 3' side of the molecule is derived from C2orf3 cDNA.

Bibliography

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia
Anthoni H, Zucchelli M, Matsson H, Müller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Körne G, Kere J, Nöthen MM, Peyrard-Janvid M
Hum Mol Genet 2007 Mar 15;16(6):667-77
PMID 17309879
 
A new gene (DYX3) for dyslexia is located on chromosome 2
Fagerheim T, Raeymaekers P, Tønnessen FE, Pedersen M, Tranebjaerg L, Lubs HA
J Med Genet 1999 Sep;36(9):664-9
PMID 10507721
 
Molecular cloning and characterization of a human DNA binding factor that represses transcription
Kageyama R, Pastan I
Cell 1989 Dec 1;59(5):815-25
PMID 2556218
 
GC factor 2 represses platelet-derived growth factor A-chain gene transcription and is itself induced by arterial injury
Khachigian LM, Santiago FS, Rafty LA, Chan OL, Delbridge GJ, Bobik A, Collins T, Johnson AC
Circ Res 1999 Jun 11;84(11):1258-67
PMID 10364563
 
Breakthroughs in the search for dyslexia candidate genes
McGrath LM, Smith SD, Pennington BF
Trends Mol Med 2006 Jul;12(7):333-41
PMID 16781891
 
Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population
Paracchini S, Ang QW, Stanley FJ, Monaco AP, Pennell CE, Whitehouse AJ
Genes Brain Behav 2011 Mar;10(2):158-65
PMID 20846247
 
Molecular cloning and characterization of a transcription regulator with homology to GC-binding factor
Reed AL, Yamazaki H, Kaufman JD, Rubinstein Y, Murphy B, Johnson AC
J Biol Chem 1998 Aug 21;273(34):21594-602
PMID 9705290
 
The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure
Scerri TS, Darki F, Newbury DF, Whitehouse AJ, Peyrard-Janvid M, Matsson H, Ang QW, Pennell CE, Ring S, Stein J, Morris AP, Monaco AP, Kere J, Talcott JB, Klingberg T, Paracchini S
PLoS One 2012;7(11):e50321
PMID 23209710
 
Transcriptional down-regulation of epidermal growth factor receptors by nerve growth factor treatment of PC12 cells
Shibutani M, Lazarovici P, Johnson AC, Katagiri Y, Guroff G
J Biol Chem 1998 Mar 20;273(12):6878-84
PMID 9506991
 
Molecular analysis of the GCF gene identifies revisions to the cDNA and amino acid sequences(1)
Takimoto M, Mao P, Wei G, Yamazaki H, Miura T, Johnson AC, Kuzumaki N
Biochim Biophys Acta 1999 Oct 6;1447(1):125-31
 
Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with developmental dyslexia
Venkatesh SK, Siddaiah A, Padakannaya P, Ramachandra NB
Gene 2013 Oct 25;529(2):215-9
PMID 23954868
 
TFIP11 interacts with mDEAH9, an RNA helicase involved in spliceosome disassembly
Wen X, Tannukit S, Paine ML
Int J Mol Sci 2008 Nov;9(11):2105-13
PMID 19165350
 
Identification of a novel component C2ORF3 in the lariat-intron complex: lack of C2ORF3 interferes with pre-mRNA splicing via intron turnover pathway
Yoshimoto R, Okawa K, Yoshida M, Ohno M, Kataoka N
Genes Cells 2014 Jan;19(1):78-87
PMID 24304693
 

Citation

This paper should be referenced as such :
Takimoto M, Peizhong M
C2orf3;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/C2orf3ID54327ch2p12.html


External links

Nomenclature
HGNC (Hugo)GCFC2   1317
Cards
AtlasC2orf3ID54327ch2p12.txt
Entrez_Gene (NCBI)GCFC2  6936  GC-rich sequence DNA-binding factor 2
AliasesC2orf3; DNABF; GCF; TCF9
GeneCards (Weizmann)GCFC2
Ensembl hg19 (Hinxton)ENSG00000005436 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005436 [Gene_View]  chr2:75662706-75710606 [Contig_View]  GCFC2 [Vega]
ICGC DataPortalENSG00000005436
TCGA cBioPortalGCFC2
AceView (NCBI)GCFC2
Genatlas (Paris)GCFC2
WikiGenes6936
SOURCE (Princeton)GCFC2
Genetics Home Reference (NIH)GCFC2
Genomic and cartography
GoldenPath hg38 (UCSC)GCFC2  -     chr2:75662706-75710606 -  2p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GCFC2  -     2p12   [Description]    (hg19-Feb_2009)
EnsemblGCFC2 - 2p12 [CytoView hg19]  GCFC2 - 2p12 [CytoView hg38]
Mapping of homologs : NCBIGCFC2 [Mapview hg19]  GCFC2 [Mapview hg38]
OMIM189901   
Gene and transcription
Genbank (Entrez)AB026911 AK097564 BC000853 BC064559 BG506463
RefSeq transcript (Entrez)NM_001201334 NM_001201335 NM_003203
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GCFC2
Cluster EST : UnigeneHs.710597 [ NCBI ]
CGAP (NCI)Hs.710597
Alternative Splicing GalleryENSG00000005436
Gene ExpressionGCFC2 [ NCBI-GEO ]   GCFC2 [ EBI - ARRAY_EXPRESS ]   GCFC2 [ SEEK ]   GCFC2 [ MEM ]
Gene Expression Viewer (FireBrowse)GCFC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6936
GTEX Portal (Tissue expression)GCFC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16383   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16383  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16383
Splice isoforms : SwissVarP16383
PhosPhoSitePlusP16383
Domains : Interpro (EBI)GCFC    GCFC_dom   
Domain families : Pfam (Sanger)GCFC (PF07842)   
Domain families : Pfam (NCBI)pfam07842   
Conserved Domain (NCBI)GCFC2
DMDM Disease mutations6936
Blocks (Seattle)GCFC2
SuperfamilyP16383
Human Protein AtlasENSG00000005436
Peptide AtlasP16383
HPRD01791
IPIIPI00418340   IPI00807475   IPI00975564   IPI00916468   IPI00916593   
Protein Interaction databases
DIP (DOE-UCLA)P16383
IntAct (EBI)P16383
FunCoupENSG00000005436
BioGRIDGCFC2
STRING (EMBL)GCFC2
ZODIACGCFC2
Ontologies - Pathways
QuickGOP16383
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  spliceosomal complex assembly  mRNA splicing, via spliceosome  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  U2-type post-mRNA release spliceosomal complex  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  spliceosomal complex assembly  mRNA splicing, via spliceosome  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  U2-type post-mRNA release spliceosomal complex  
REACTOMEP16383 [protein]
REACTOME PathwaysR-HSA-72163 [pathway]   
NDEx NetworkGCFC2
Atlas of Cancer Signalling NetworkGCFC2
Wikipedia pathwaysGCFC2
Orthology - Evolution
OrthoDB6936
GeneTree (enSembl)ENSG00000005436
Phylogenetic Trees/Animal Genes : TreeFamGCFC2
HOVERGENP16383
HOGENOMP16383
Homologs : HomoloGeneGCFC2
Homology/Alignments : Family Browser (UCSC)GCFC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGCFC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GCFC2
dbVarGCFC2
ClinVarGCFC2
1000_GenomesGCFC2 
Exome Variant ServerGCFC2
ExAC (Exome Aggregation Consortium)GCFC2 (select the gene name)
Genetic variants : HAPMAP6936
Genomic Variants (DGV)GCFC2 [DGVbeta]
DECIPHERGCFC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGCFC2 
Mutations
ICGC Data PortalGCFC2 
TCGA Data PortalGCFC2 
Broad Tumor PortalGCFC2
OASIS PortalGCFC2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGCFC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GCFC2
DgiDB (Drug Gene Interaction Database)GCFC2
DoCM (Curated mutations)GCFC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GCFC2 (select a term)
intoGenGCFC2
NCG5 (London)GCFC2
Cancer3DGCFC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM189901   
Orphanet
MedgenGCFC2
Genetic Testing Registry GCFC2
NextProtP16383 [Medical]
TSGene6936
GENETestsGCFC2
Target ValidationGCFC2
Huge Navigator GCFC2 [HugePedia]
snp3D : Map Gene to Disease6936
BioCentury BCIQGCFC2
ClinGenGCFC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6936
Chemical/Pharm GKB GenePA25892
Clinical trialGCFC2
Miscellaneous
canSAR (ICR)GCFC2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGCFC2
EVEXGCFC2
GoPubMedGCFC2
iHOPGCFC2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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