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Aliases for DIRC3 Gene

Subcategory (RNA class) for DIRC3 Gene

ncRNA

Quality Score for this RNA gene is

3

Aliases for DIRC3 Gene

  • Disrupted In Renal Carcinoma 3 2 3 5

External Ids for DIRC3 Gene

Previous GeneCards Identifiers for DIRC3 Gene

  • GC00U912756
  • GC02U900716
  • GC02M218174
  • GC02M218276
  • GC02M210003

Summaries for DIRC3 Gene

GeneCards Summary for DIRC3 Gene

DIRC3 (Disrupted In Renal Carcinoma 3) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with DIRC3 include Renal Cell Carcinoma and Differentiated Thyroid Carcinoma.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIRC3 Gene

Genomics for DIRC3 Gene

Regulatory Elements for DIRC3 Gene

Enhancers for DIRC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F217392 1.3 FANTOM5 Ensembl ENCODE 16.2 +362.5 362536 2.6 HDGF CTCF ESRRA PKNOX1 ZMYM3 SIN3A RAD21 GATA3 ZNF143 RCOR1 DIRC3 GC02M217383 GC02P217334
GH02F217429 1.1 Ensembl ENCODE 15.8 +325.8 325812 3.2 TBP PKNOX1 ZFP64 RAD21 THRB ZNF48 RARA ZNF263 CEBPB NFIL3 DIRC3 ENSG00000231597 TNP1 ENSG00000227021 LINC01921 LOC105373876 GC02P217429 GC02P217430
GH02F217387 1 Ensembl ENCODE 16.3 +368.5 368493 0.6 ESRRA PKNOX1 RAD21 GATA3 CTBP1 POLR2A TCF7L2 RFX1 ZNF687 NR3C1 DIRC3 GC02M217383 GC02P217334
GH02F217398 1 Ensembl ENCODE 15.8 +357.5 357503 2.1 CTCF SAP130 RAD21 ZNF644 ZNF48 POLR2A HNF4G NR2F6 ETV6 THAP11 DIRC3 GC02M217383 GC02P217334
GH02F217382 0.9 Ensembl ENCODE 16.1 +373.3 373300 2.0 ESRRA MTA2 TAL1 BHLHE40 REST NR2F2 ARID1B ATF3 NCOR1 SMARCA4 DIRC3 GC02M217383 GC02P217334
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIRC3 on UCSC Golden Path with GeneCards custom track

Promoters for DIRC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001832546 -107 201 CTCF MAX ZNF48 RAD21 GLIS2 POLR2A ZBTB48 PATZ1 SCRT2 ZNF143

Genomic Location for DIRC3 Gene

Chromosome:
2
Start:
217,284,019 bp from pter
End:
217,756,593 bp from pter
Size:
472,575 bases
Orientation:
Minus strand

Genomic View for DIRC3 Gene

Genes around DIRC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRC3 Gene

Proteins for DIRC3 Gene

  • Protein details for DIRC3 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    C9JPN6
    Recommended name:
    Protein DIRC3
    Protein Accession:
    C9JPN6

    Protein attributes for DIRC3 Gene

    Size:
    131 amino acids
    Molecular mass:
    14375 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DIRC3 Gene

Post-translational modifications for DIRC3 Gene

No Post-translational modifications

Other Protein References for DIRC3 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for DIRC3 Gene

Domains & Families for DIRC3 Gene

Protein Domains for DIRC3 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DIRC3: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for DIRC3 Gene

Function for DIRC3 Gene

Phenotypes for DIRC3 Gene

GenomeRNAi human phenotypes for DIRC3:
genes like me logo Genes that share phenotypes with DIRC3: view

Human Phenotype Ontology for DIRC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DIRC3 Gene

Localization for DIRC3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIRC3 gene
Compartment Confidence
extracellular 2
plasma membrane 1
nucleus 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DIRC3 Gene

Pathways & Interactions for DIRC3 Gene

SuperPathways for DIRC3 Gene

No Data Available

Interacting Proteins for DIRC3 Gene

Gene Ontology (GO) - Biological Process for DIRC3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DIRC3 Gene

Transcripts for DIRC3 Gene

mRNA/cDNA for DIRC3 Gene

(3) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DIRC3 Gene

Disrupted in renal carcinoma 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIRC3 Gene

No ASD Table

Relevant External Links for DIRC3 Gene

GeneLoc Exon Structure for
DIRC3
ECgene alternative splicing isoforms for
DIRC3

Expression for DIRC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIRC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DIRC3 Gene:

DIRC3

SOURCE GeneReport for Unigene cluster for DIRC3 Gene:

Hs.572788
genes like me logo Genes that share expression patterns with DIRC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DIRC3 Gene

Orthologs for DIRC3 Gene

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

Orthologs for DIRC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRC3 35
  • 98 (a)
OneToOne
Species where no ortholog for DIRC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DIRC3 Gene

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

Paralogs for DIRC3 Gene

No data available for Paralogs for DIRC3 Gene

Variants for DIRC3 Gene

Sequence variations from dbSNP and Humsavar for DIRC3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1002353 -- 217,530,422(+) ATAGC(C/T)CTCAG intron-variant
rs10084346 -- 217,442,013(+) AGGGT(C/T)TGGGA intron-variant
rs10164712 -- 217,288,117(+) ATACC(A/G)TCATC intron-variant
rs10164888 -- 217,309,371(+) GCCCA(G/T)TCTCT intron-variant
rs10167486 -- 217,755,438(+) GAGAC(A/G)GCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIRC3 Gene

Variant ID Type Subtype PubMed ID
nsv962111 CNV deletion 23825009
nsv834540 CNV gain 17160897
nsv834539 CNV gain 17160897
nsv584485 CNV loss 21841781
nsv527935 CNV loss 19592680
nsv523924 CNV loss 19592680
nsv508129 OTHER sequence alteration 20534489
nsv478858 CNV novel sequence insertion 20440878
nsv472963 CNV novel sequence insertion 20440878
nsv460101 CNV loss 19166990
nsv1127799 CNV deletion 24896259
nsv1010775 CNV loss 25217958
nsv1006953 CNV gain 25217958
esv993506 CNV deletion 20482838
esv3594324 CNV loss 21293372
esv3594323 CNV loss 21293372
esv3594320 CNV loss 21293372
esv3594319 CNV loss 21293372
esv3594318 CNV loss 21293372
esv3594314 CNV loss 21293372
esv3594312 CNV loss 21293372
esv3451297 CNV insertion 20981092
esv3336572 CNV insertion 20981092
esv3329205 CNV insertion 20981092
esv3310286 CNV mobile element insertion 20981092
esv3310024 CNV mobile element insertion 20981092
esv3306418 CNV mobile element insertion 20981092
esv2721470 CNV deletion 23290073
esv2721469 CNV deletion 23290073
esv2721468 CNV deletion 23290073
esv2721467 CNV deletion 23290073
esv2721466 CNV deletion 23290073
esv2668873 CNV deletion 23128226
esv2661099 CNV deletion 23128226
esv2450238 CNV deletion 19546169
esv1580867 CNV insertion 17803354
esv1156929 CNV insertion 17803354
dgv763e214 CNV gain 21293372
dgv4174n100 CNV gain 25217958
dgv1215e212 CNV loss 25503493

Variation tolerance for DIRC3 Gene

Gene Damage Index Score: 6.30; 76.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIRC3 Gene

Human Gene Mutation Database (HGMD)
DIRC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIRC3 Gene

Disorders for DIRC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIRC3 Gene - From: Orphanet

Disorder Aliases PubMed IDs
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search DIRC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DIRC3

Genetic Association Database (GAD)
DIRC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIRC3
genes like me logo Genes that share disorders with DIRC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIRC3 Gene

Publications for DIRC3 Gene

  1. Discovery of common variants associated with low TSH levels and thyroid cancer risk. (PMID: 22267200) Gudmundsson J. … Stefansson K. (Nat. Genet. 2012) 3 46 64
  2. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A. … Haiman C.A. (PLoS Genet. 2011) 3 46 64
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 46 64
  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). (PMID: 12939738) Bodmer D. … Geurts van Kessel A. (Genes Chromosomes Cancer 2003) 2 3 64
  5. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3 64

Products for DIRC3 Gene

Sources for DIRC3 Gene

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