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Aliases for DIRC2 Gene

Aliases for DIRC2 Gene

  • Disrupted In Renal Carcinoma 2 2 3 5
  • Disrupted In Renal Cancer Protein 2 2 3 4
  • Renal Cell Carcinoma 4 2 3
  • Disrupted In Renal Carcinoma Protein 2 3
  • RCC4 3

External Ids for DIRC2 Gene

Previous GeneCards Identifiers for DIRC2 Gene

  • GC03P119232
  • GC03P122462
  • GC03P123794
  • GC03P123835
  • GC03P123836
  • GC03P123996
  • GC03P122513
  • GC03P119887

Summaries for DIRC2 Gene

Entrez Gene Summary for DIRC2 Gene

  • This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DIRC2 Gene

DIRC2 (Disrupted In Renal Carcinoma 2) is a Protein Coding gene. Diseases associated with DIRC2 include Renal Cell Carcinoma 4 and Renal Cell Carcinoma. An important paralog of this gene is FLVCR1.

UniProtKB/Swiss-Prot for DIRC2 Gene

  • Electrogenic metabolite transporter.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIRC2 Gene

Genomics for DIRC2 Gene

Regulatory Elements for DIRC2 Gene

Enhancers for DIRC2 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
GH03G122766 1.7 FANTOM5 Ensembl ENCODE dbSUPER 50.7 -26.5 -26474 3.8 HDAC1 TAL1 CHAMP1 FOSL1 TCF12 FOXM1 ZNF121 NCOR1 SCRT2 FOS DIRC2 HSPBAP1 PARP14 PARP9 DTX3L LINC02035 CSTA KPNA1
GH03G122689 1.1 ENCODE dbSUPER 17.4 -104.3 -104314 2.7 PKNOX1 FOXA2 SIN3A RARA FOS RELB MIXL1 JUNB CEBPB KAT8 HSPBAP1 DIRC2 PARP14 LINC02035
GH03G122770 1 FANTOM5 Ensembl dbSUPER 16.3 -24.1 -24139 0.5 WT1 PARP14 DIRC2 HSPBAP1 PARP9 DTX3L CSTA KPNA1
GH03G122758 0.9 Ensembl ENCODE dbSUPER 17.9 -35.3 -35341 1.7 ZNF664 PRDM4 HSPBAP1 DIRC2 LINC02035 PARP14
GH03G122773 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -20.7 -20655 1.8 CTCF PKNOX1 MTA2 NR2F1 HLF TRIM22 TBX21 FOSL1 RAD51 EED PARP14 HSPBAP1 DTX3L PARP9 DIRC2 CSTA KPNA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIRC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIRC2 Gene

Chromosome:
3
Start:
122,794,795 bp from pter
End:
122,881,139 bp from pter
Size:
86,345 bases
Orientation:
Plus strand

Genomic View for DIRC2 Gene

Genes around DIRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRC2 Gene

Proteins for DIRC2 Gene

  • Protein details for DIRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SL1-DIRC2_HUMAN
    Recommended name:
    Disrupted in renal carcinoma protein 2
    Protein Accession:
    Q96SL1
    Secondary Accessions:
    • A8K561
    • Q8NBX9

    Protein attributes for DIRC2 Gene

    Size:
    478 amino acids
    Molecular mass:
    52088 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DIRC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIRC2 Gene

Post-translational modifications for DIRC2 Gene

  • Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated C-terminal fragment.
  • Glycosylation at Asn209
  • Modification sites at PhosphoSitePlus

Other Protein References for DIRC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRC2 Gene

Domains & Families for DIRC2 Gene

Gene Families for DIRC2 Gene

Protein Domains for DIRC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DIRC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96SL1

UniProtKB/Swiss-Prot:

DIRC2_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with DIRC2: view

Function for DIRC2 Gene

Molecular function for DIRC2 Gene

UniProtKB/Swiss-Prot Function:
Electrogenic metabolite transporter.
genes like me logo Genes that share phenotypes with DIRC2: view

Human Phenotype Ontology for DIRC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for DIRC2

CRISPR Products

miRNA for DIRC2 Gene

miRTarBase miRNAs that target DIRC2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DIRC2 Gene

Localization for DIRC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIRC2 Gene

Lysosome membrane; Multi-pass membrane protein.

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 DIRC2 gene
Compartment Confidence
plasma membrane 3
lysosome 3

Gene Ontology (GO) - Cellular Components for DIRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with DIRC2: view

Pathways & Interactions for DIRC2 Gene

SuperPathways for DIRC2 Gene

No Data Available

Interacting Proteins for DIRC2 Gene

Selected Interacting proteins: Q96SL1-DIRC2_HUMAN for DIRC2 Gene via IID

Symbol External ID(s) Details
CUL2

Gene Ontology (GO) - Biological Process for DIRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with DIRC2: view

No data available for Pathways by source and SIGNOR curated interactions for DIRC2 Gene

Drugs & Compounds for DIRC2 Gene

No Compound Related Data Available

Transcripts for DIRC2 Gene

mRNA/cDNA for DIRC2 Gene

Unigene Clusters for DIRC2 Gene

Disrupted in renal carcinoma 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIRC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -

Relevant External Links for DIRC2 Gene

GeneLoc Exon Structure for
DIRC2
ECgene alternative splicing isoforms for
DIRC2

Expression for DIRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIRC2 Gene

mRNA differential expression in normal tissues according to GTEx for DIRC2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for DIRC2 Gene

This gene is overexpressed in Cervix (27.4), Bone (21.8), Heart (10.2), and Placenta (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DIRC2 Gene



Protein tissue co-expression partners for DIRC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DIRC2 Gene:

DIRC2

SOURCE GeneReport for Unigene cluster for DIRC2 Gene:

Hs.477346

mRNA Expression by UniProt/SwissProt for DIRC2 Gene:

Q96SL1-DIRC2_HUMAN
Tissue specificity: Ubiquitous. Expressed in proximal tubular cells of the kidney.

Evidence on tissue expression from TISSUES for DIRC2 Gene

  • Skin(4.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRC2 Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Organs:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with DIRC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DIRC2 Gene

Orthologs for DIRC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIRC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRC2 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia DIRC2 34 35
  • 93.12 (n)
cow
(Bos Taurus)
Mammalia DIRC2 34 35
  • 91.61 (n)
mouse
(Mus musculus)
Mammalia Dirc2 34 16 35
  • 87.7 (n)
rat
(Rattus norvegicus)
Mammalia Dirc2 34
  • 87.14 (n)
oppossum
(Monodelphis domestica)
Mammalia DIRC2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIRC2 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIRC2 34 35
  • 79.31 (n)
lizard
(Anolis carolinensis)
Reptilia DIRC2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dirc2 34
  • 71.64 (n)
Str.17094 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13546 34
zebrafish
(Danio rerio)
Actinopterygii dirc2 34 35
  • 66.28 (n)
Dr.12786 34
worm
(Caenorhabditis elegans)
Secernentea C27A7.6 35
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
Species where no ortholog for DIRC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DIRC2 Gene

ENSEMBL:
Gene Tree for DIRC2 (if available)
TreeFam:
Gene Tree for DIRC2 (if available)

Paralogs for DIRC2 Gene

Paralogs for DIRC2 Gene

genes like me logo Genes that share paralogs with DIRC2: view

Variants for DIRC2 Gene

Sequence variations from dbSNP and Humsavar for DIRC2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000019190 -- 122,843,481(+) TAACT(A/G)AAAAC intron-variant
rs1000040799 -- 122,816,352(+) TCTCT(A/C)TTGTG intron-variant
rs1000063737 -- 122,841,550(+) GTTAC(A/C/G)TTTAA intron-variant
rs1000065627 -- 122,868,774(+) TGTAA(C/T)AGAAA intron-variant
rs1000103834 -- 122,815,562(+) AGTCT(C/T)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIRC2 Gene

Variant ID Type Subtype PubMed ID
esv2590652 CNV deletion 19546169
esv3400727 CNV duplication 20981092
nsv517377 CNV gain+loss 19592680
nsv829706 CNV gain 17160897

Variation tolerance for DIRC2 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIRC2 Gene

Human Gene Mutation Database (HGMD)
DIRC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIRC2 Gene

Disorders for DIRC2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DIRC2 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal cell carcinoma 4
  • rcc4
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
seminal vesicle tumor
  • seminal vesicle neoplasm
male reproductive organ benign neoplasm
hereditary renal cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search DIRC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DIRC2_HUMAN
  • Note=A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21) (PubMed:11912179). {ECO:0000269 PubMed:11912179}.

Relevant External Links for DIRC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIRC2
genes like me logo Genes that share disorders with DIRC2: view

No data available for Genatlas for DIRC2 Gene

Publications for DIRC2 Gene

  1. Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21). (PMID: 11912179) Bodmer D. … van Kessel A.G. (Hum. Mol. Genet. 2002) 2 3 4 64
  2. Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L. (PMID: 21692750) Savalas L.R. … Schroder B. (Biochem. J. 2011) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for DIRC2 Gene

Sources for DIRC2 Gene

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