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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIRC3 Gene

protein-coding   GIFtS: 31
GCID: GC02M218174

Disrupted In Renal Carcinoma 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Disrupted In Renal Carcinoma 31 2

External Ids:    HGNC: 178051   Entrez Gene: 7295822   Ensembl: ENSG000002316727   OMIM: 6082625   UniProtKB: C9JPN64   
ORGUL members:         
NONCODE14:n383807 n339143      

Export aliases for DIRC3 gene to outside databases

Previous GC identifers: GC00U912756 GC02U900716 GC02M218276 GC02M210003


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DIRC3 Gene: 
DIRC3 (disrupted in renal carcinoma 3) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with DIRC3 include thyroid cancer, and thyroiditis.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DIRC3 gene promoter:
         GATA-3   FOXF2   Pbx1a   E4BP4   Evi-1   GATA-1   GATA-2   CREB   deltaCREB   FOXO4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DIRC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

DIRC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIRC3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M218174:  view genomic region     (about GC identifiers)

Start:
218,148,742 bp from pter      End:
218,621,316 bp from pter
Size:
472,575 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DIRC3

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/TrEMBL: C9JPN6 (See protein sequence)
Recommended Name: Protein DIRC3  
Size: 131 amino acids; 14375 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

DIRC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

ENSEMBL proteins: 
 ENSP00000389455  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: C9JPN6


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRC3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DIRC3

Search CenterWatch for drugs/clinical trials and news about DIRC3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

Unigene Cluster for DIRC3:

Disrupted in renal carcinoma 3
Hs.572788  [show with all ESTs]
Unigene Representative Sequence: NR_026597
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000474063(uc002vgn.2 uc002vgo.3) ENST00000486365 ENST00000484635
ENST00000423123
miRNA
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Additional mRNA sequence: 

AK024261.1 AK090954.1 NR_026597.1 

3 DOTS entries:

DT.309715  DT.100745263  DT.40313650 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DIRC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGAAACTTA
DIRC3 Expression
About this image


Genevestigator expression for DIRC3

SOURCE GeneReport for Unigene cluster: Hs.572788
    SABiosciences Custom PCR Arrays for DIRC3
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and chimp.

Orthologs for DIRC3 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DIRC36
disrupted in renal carcinoma 3
98(a)
1 ↔ 1
2B(222754314-222807022)


ENSEMBL Gene Tree for DIRC3 (if available)
TreeFam Gene Tree for DIRC3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/9339 SNPs in DIRC3 are shown (see all 9339)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs665354631,2
C--210112837(+) CCTCA-/CC/CCC
        
CCCCC
1 -- int12NA CSA 4
rs340783081,2
C--210373534(+) CTTTT-/CTATTTT 1 -- int11Minor allele frequency- CT:0.00NA 2
rs343719501,2
C--217799119(+) ATCTC-/AAAAAAAA 1 -- int10--------
rs606481291,2
C--217978493(+) TTTTT-/TTTGAGAT 1 -- int11Minor allele frequency- TTT:0.00NA 2
rs1823995111,2
--218148256(+) TCACAA/TAAATC 1 -- ds50010--------
rs1869796521,2
--218148425(+) TCCCAC/TGCACT 1 -- ds50010--------
rs1430642711,2
--218148426(+) CCCACA/GCACTC 1 -- ds50010--------
rs1460513391,2
--218148590(+) CCACAA/TGATGT 1 -- ds50010--------
rs1134709111,2
C--218148766(+) AGTAAA/GTTTTA 1 -- nc-transcript-variant0--------
rs1827467201,2
--218148793(+) AGATTC/GTAATC 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for DIRC3 (218148742 - 218398742 bp, first 250kb of DIRC3)

Structural Variations
     Database of Genomic Variants (DGV) 10/22 variations for DIRC3 (see all 22):    About this table     
Variant IDTypeSubtypePubMed ID
esv993506CNV Deletion20482838
esv2721469CNV Deletion23290073
esv2721468CNV Deletion23290073
esv2668873CNV Deletion23128226
esv2661099CNV Deletion23128226
esv2721467CNV Deletion23290073
esv2721466CNV Deletion23290073
esv2721470CNV Deletion23290073
esv2450238CNV Deletion19546169
esv269834CNV Insertion20981092


Human Gene Mutation Database (HGMD): DIRC3
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 608262    OMIM disorders: --

2 diseases for DIRC3:    About MalaCards
thyroid cancer    thyroiditis


DIRC3 for disorders           About GeneDecksing

Genetic Association Database (GAD): DIRC3

Export disorders for DIRC3 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for DIRC3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DIRC3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Discovery of common variants associated with low TSH l evels and thyroid cancer risk. (PubMed id 22267200)1, 4 Gudmundsson J....Stefansson K. (2012)
  2. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (2011)
  3. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)
  4. Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21). (PubMed id 12939738)1, 3 Bodmer D....Geurts van Kessel A. (2003)
  5. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (2013)
  6. Large-scale genotyping identifies 41 new loci associat ed with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (2013)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 729582 HGNC: 17805 Ensembl:ENSG00000231672 euGenes: HUgn729582 ECgene: DIRC3
H-InvDB: DIRC3

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for DIRC3 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DIRC3 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for DIRC3 gene:
Search GeneIP for patents involving DIRC3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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