Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DIRC2 Gene

Aliases for DIRC2 Gene

  • Disrupted In Renal Carcinoma 2 2 3
  • Disrupted In Renal Cancer Protein 2 2 3 4
  • Renal Cell Carcinoma 4 2 3
  • RCC4 3 6
  • Disrupted In Renal Carcinoma Protein 2 3

External Ids for DIRC2 Gene

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 seminal vesicle tumor. An important paralog of this gene is FLVCR2.

UniProtKB/Swiss-Prot for DIRC2 Gene

  • Electrogenic metabolite transporter.

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

Genomics for DIRC2 Gene

Genomic Location for DIRC2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRC2 Gene

Regulatory Elements 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

Proteomics data for DIRC2 Gene at MOPED

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

Other Protein References for DIRC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRC2 Gene

Domains for DIRC2 Gene

Gene Families for DIRC2 Gene

Protein Domains for DIRC2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

DIRC2_HUMAN
Family:
  • Belongs to the major facilitator superfamily.:
    • Q96SL1
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.

miRNA for DIRC2 Gene

miRTarBase miRNAs that target DIRC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for DIRC2 Gene COMPARTMENTS Subcellular localization image for DIRC2 gene
Compartment Confidence
lysosome 5
vacuole 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for DIRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0005765 lysosomal membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIRC2: view

Pathways for DIRC2 Gene

SuperPathways for DIRC2 Gene

No Data Available

Interacting Proteins for DIRC2 Gene

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 for DIRC2 Gene

Transcripts for DIRC2 Gene

mRNA/cDNA for DIRC2 Gene

Unigene Clusters for DIRC2 Gene

Disrupted in renal carcinoma 2:
Representative Sequences:

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 for DIRC2 Gene

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

This gene is overexpressed in Muscle - Skeletal (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for DIRC2 Gene

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.
genes like me logo Genes that share expressions with DIRC2: view

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 36
  • 99.65 (n)
  • 99.58 (a)
DIRC2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DIRC2 36
  • 91.61 (n)
  • 94.13 (a)
DIRC2 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIRC2 36
  • 93.12 (n)
  • 93.68 (a)
DIRC2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dirc2 36
  • 87.7 (n)
  • 94.55 (a)
Dirc2 16
Dirc2 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIRC2 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIRC2 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dirc2 36
  • 87.14 (n)
  • 93.92 (a)
chicken
(Gallus gallus)
Aves DIRC2 36
  • 79.31 (n)
  • 87.19 (a)
DIRC2 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIRC2 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13546 36
tropical clawed frog
(Silurana tropicalis)
Amphibia dirc2 36
  • 71.64 (n)
  • 79.39 (a)
Str.17094 36
zebrafish
(Danio rerio)
Actinopterygii dirc2 36
  • 66.28 (n)
  • 73.21 (a)
dirc2 37
  • 71 (a)
OneToOne
Dr.12786 36
worm
(Caenorhabditis elegans)
Secernentea C27A7.6 37
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToMany
-- 37
  • 36 (a)
OneToMany
Species with no ortholog for DIRC2:
  • 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 MAF
rs725404 -- 122,848,125(-) AAGAA(C/G)AGAGC intron-variant
rs725405 -- 122,848,062(-) ATCTA(C/T)ACCGT intron-variant
rs728298 -- 122,821,396(-) CGGCC(C/G)CCAAC intron-variant
rs735728 -- 122,804,327(-) CAGAT(C/T)CTCAT intron-variant
rs735729 -- 122,804,284(-) gagtt(C/T)ttgct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv877391 CNV Gain 21882294
nsv829706 CNV Gain 17160897
nsv877392 CNV Loss 21882294
esv2590652 CNV Deletion 19546169
nsv517377 CNV Gain+Loss 19592680

Relevant External Links for DIRC2 Gene

HapMap Linkage Disequilibrium report
DIRC2
Human Gene Mutation Database (HGMD)
DIRC2

Disorders for DIRC2 Gene

(1) OMIM Diseases for DIRC2 Gene (602773)

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).

(2) University of Copenhagen DISEASES for DIRC2 Gene

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

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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. 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
  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

Products for DIRC2 Gene

Sources for DIRC2 Gene

Back to Top

Content