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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
  • 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 and Renal Cell Carcinoma 4. 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

Regulatory Elements for DIRC2 Gene

Enhancers for DIRC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

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 Asn 209
  • 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.

Phenotypes for DIRC2 Gene

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

miRNA for DIRC2 Gene

miRTarBase miRNAs that target DIRC2

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
Jensen Localization Image for DIRC2 Gene COMPARTMENTS Subcellular localization image for DIRC2 gene
Compartment Confidence
lysosome 3
plasma membrane 3
vacuole 3

No data available for Gene Ontology (GO) - Cellular Components for DIRC2 Gene

Pathways & Interactions for DIRC2 Gene

SuperPathways for DIRC2 Gene

No Data Available

Interacting Proteins for DIRC2 Gene

Gene Ontology (GO) - Biological Process for DIRC2 Gene

None

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:

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 (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, 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 expression patterns with DIRC2: view

Protein tissue co-expression partners for DIRC2 Gene

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
cow
(Bos Taurus)
Mammalia DIRC2 35
  • 91.61 (n)
  • 94.13 (a)
DIRC2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIRC2 35
  • 93.12 (n)
  • 93.68 (a)
DIRC2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dirc2 35
  • 87.7 (n)
  • 94.55 (a)
Dirc2 16
Dirc2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DIRC2 35
  • 99.65 (n)
  • 99.58 (a)
DIRC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dirc2 35
  • 87.14 (n)
  • 93.92 (a)
oppossum
(Monodelphis domestica)
Mammalia DIRC2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIRC2 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIRC2 35
  • 79.31 (n)
  • 87.19 (a)
DIRC2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIRC2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dirc2 35
  • 71.64 (n)
  • 79.39 (a)
Str.17094 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13546 35
zebrafish
(Danio rerio)
Actinopterygii dirc2 35
  • 66.28 (n)
  • 73.21 (a)
Dr.12786 35
dirc2 36
  • 71 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27A7.6 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
-- 36
  • 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
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

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

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
  • renal cell carcinoma, clear cell, somatic
renal cell carcinoma 4
  • rcc4
familial renal cell carcinoma
  • familial renal carcinoma
seminal vesicle tumor
  • seminal vesicle neoplasm
male reproductive organ benign neoplasm
- 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 67
  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
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3

Products for DIRC2 Gene

Sources for DIRC2 Gene

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