DIRC2 Gene
protein-coding GIFtS: 45
GCID: GC03P122513
|
|
disrupted in renal carcinoma 2
| |
Aliases
for DIRC2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Disrupted In Renal Carcinoma 21 2 | | RCC41 2 5 | | Disrupted In Renal Cancer Protein 22 3 | | FLJ147841 | | Disrupted In Renal Carcinoma Protein 22 | | Renal Cell Carcinoma 42 |
Export aliases for DIRC2 gene to outside databasesPrevious GC identifers: GC03P119232 GC03P122462 GC03P123794 GC03P123835 GC03P123836 GC03P123996 GC03P119887 |
Summaries
for DIRC2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DIRC2:
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of thisgene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively splicedtranscript variants have been described, but their biological validity has not yet been determined. (provided byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DIRC2_HUMAN, Q96SL1Function: Electrogenic metabolite transporter
|
Genomic Views
for DIRC2 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DIRC2 gene promoter:
p53 E4BP4 POU3F2 c-Ets-1 Evi-1 AREB6 HEN1 CHOP-10 FAC1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DIRC2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRC2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q21.1 Ensembl cytogenetic band: 3q21.1 HGNC cytogenetic band: 3q21.1DIRC2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P122513: view genomic region
(about GC identifiers)
Start:
|
122,513,642 bp from pter |
End:
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122,599,986 bp from pter |
Size:
|
86,345 bases |
Orientation:
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plus strand |
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Proteins
for DIRC2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DIRC2_HUMAN, Q96SL1 (See
protein sequence)Recommended Name: Disrupted in renal carcinoma protein 2 Size: 478 amino acids; 52088 Da
Subcellular location: Lysosome membrane; Multi-pass membrane protein
Secondary accessions: A8K561 Q8NBX9Alternative splicing: 2 isoforms: Q96SL1-1 Q96SL1-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DIRC2: NX_Q96SL1
Post-translational modifications:
Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and anon-glycosylated C-terminal fragment1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96SL1
DIRC2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_116228.1
ENSEMBL proteins: ENSP00000261038 ENSP00000418554
Human Recombinant Protein Products for DIRC2:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005765 | lysosomal membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
DIRC2 for ontologies About GeneDecksing
DIRC2 Antibody Products:
Assay Products for DIRC2: |
Protein
Domains /
Families
for DIRC2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DIRC2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96SL1ProtoNet protein and cluster: Q96SL1 UniProtKB/Swiss-Prot: DIRC2_HUMAN, Q96SL1Similarity: Belongs to the major facilitator superfamily |
Function
for DIRC2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DIRC2_HUMAN, Q96SL1Function: Electrogenic metabolite transporterAnimal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DIRC2 (NM_032839) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIRC2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC2 |
|
Pathways & Interactions
for DIRC2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIRC2
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006810 | transport |
IEA | -- |
DIRC2 for ontologies About GeneDecksing
|
Drugs & Compounds
for DIRC2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DIRC2
Search CenterWatch for drugs/clinical trials and news about DIRC2
|
Transcripts
for DIRC2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DIRC2 gene: NM_032839.2 Unigene Cluster for DIRC2: Disrupted in renal carcinoma 2 Hs.477346 [show with all ESTs]Unigene Representative Sequence: NM_0328392 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261038(uc003efw.4 uc010hrl.3 uc010hrm.3) ENST00000477647
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DIRC2 (NM_032839) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIRC2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC2 |
Additional cDNA sequence: AK027690.1 AK075158.1 AK291176.1 BC022204.1 BC033738.1 BC039821.1 5 DOTS entries: DT.113781 DT.211595 DT.100784942 DT.91727901 DT.100784943 24/120 AceView cDNA sequences (see all 120): AA031274 NM_032839 AA234944 AK027690 BF593262 BU075645 BX106061 BM787946 BM804078 R49386 AW592488 CB134598 AK075158 BC033738 AI129738 CD518322 BQ380052 R10542 AA625541 BX283383 AI079410 AA234945 Z39752 Z43693
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for DIRC2 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | |
ECgene alternative splicing isoforms for DIRC2
|
Expression
for DIRC2 gene
(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
| DIRC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACACTACAT
About this image
See DIRC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DIRC2
SOURCE GeneReport for Unigene cluster: Hs.477346
UniProtKB/Swiss-Prot: DIRC2_HUMAN, Q96SL1Tissue specificity: Ubiquitous. Expressed in proximal tubular cells of the kidney
SABiosciences Custom PCR Arrays for DIRC2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIRC2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIRC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIRC2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC2 |
Orthologs
for DIRC2 gene
(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 animals.
Orthologs for DIRC2 gene from 5/20 species (see all 20) About this table
ENSEMBL Gene Tree for DIRC2 (if available)
TreeFam Gene Tree for DIRC2 (if available) |
Paralogs
for DIRC2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DIRC2 gene
- MFSD72 FLVCR12 FLVCR22
DIRC2 for paralogs About GeneDecksing
|
Genomic Variants
for DIRC2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DIRC2 (122513642 - 122599986 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DIRC2
3 CNVs: 50917 91503 98426
Human Gene Mutation Database (HGMD): DIRC2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIRC2 |
|
Disorders
/ Diseases
for DIRC2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DIRC2 for disorders About GeneDecksing
OMIM gene information: 602773
OMIM disorders: 144700
UniProtKB/Swiss-Prot: DIRC2_HUMAN, Q96SL1
Note=A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocationt(2;3)(q35;q21)
9  diseases for DIRC2: About MalaCardsrenal cell carcinoma renal cell carcinoma 4 carcinoma renal carcinoma
seminal vesicle tumor central nervous system hemangioblastoma familial renal cell carcinoma hemangioblastoma
kidney cancer
2 diseases from the University of Copenhagen DISEASES database for DIRC2:Renal cell carcinoma Seminal vesicle tumor Export disorders for DIRC2 gene to outside databases
|
Publications
for DIRC2 gene (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 DIRC2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DIRC2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21). (PubMed id 11912179)1, 2, 3 Bodmer D....van Kessel A.G. (2002)
- Disrupted in renal carcinoma 2 (DIRC2), a novel trans porter of the lysosomal membrane, is proteolytically processed by cathepsin L. (PubMed id 21692750)1, 2 Savalas L.R....SchrAPder B. (2011)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
- Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints. (PubMed id 12237231)1 Bodmer D....van Kessel A.G. (2002)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for DIRC2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DIRC2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DIRC2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DIRC2 gene(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
|
|
About This Section
| Patent Information for DIRC2 gene:
Search GeneIP for patents involving DIRC2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DIRC2 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DIRC2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIRC2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIRC2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DIRC2 | | OriGene 3'-UTR Clone for DIRC2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIRC2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DIRC2 | | OriGene Custom Protein Services for DIRC2 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIRC2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIRC2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIRC2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIRC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIRC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIRC2 |
| |
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| | | | Search Tocris compounds for DIRC2 |
| |  |  |  |  | | | | |
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 |
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 | | | DIRC2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIRC2 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for DIRC2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIRC2 |
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