RHBDD2 Gene
protein-coding GIFtS: 45
GCID: GC07P075471
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|
rhomboid domain containing 2(Previous names: rhomboid, veinlet-like 7 (Drosophila) )
(Previous symbol: RHBDL7)
| |
Aliases
for RHBDD2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rhomboid Domain Containing 21 2 | | H_RG122E10.2b2 | | RHBDL71 2 3 | | WUGSC:H_RG122E10.2a2 | | NPD0071 2 | | WUGSC:H_RG122E10.2b2 | | Rhomboid, Veinlet-Like 7 (Drosophila)1 | | Rhomboid Domain-Containing Protein 22 | | H_RG122E10.2a2 | | Rhomboid, Veinlet-Like 72 |
Export aliases for RHBDD2 gene to outside databasesPrevious GC identifers: GC07P075346 GC07P070594 |
Summaries
for RHBDD2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for RHBDD2 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_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RHBDD2 gene promoter:
GATA-3 Sp1 SREBP-1c MIF-1 LCR-F1 SREBP-1b C/EBPalpha GATA-1 GATA-2 SREBP-1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for RHBDD2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDD2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11RHBDD2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P075471: view genomic region
(about GC identifiers)
Start:
|
75,471,920 bp from pter |
End:
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75,518,244 bp from pter |
Size:
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46,325 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 74,841,381-74,851,308 |
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Proteins
for RHBDD2 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: RHBD2_HUMAN, Q6NTF9 (See
protein sequence)Recommended Name: Rhomboid domain-containing protein 2 Size: 364 amino acids; 39202 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Caution: Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting that ithas no peptidase activity
Sequence caution: Sequence=BAB15503.1; Type=Erroneous initiation;
Secondary accessions: Q7L534 Q9H5W6 Q9UDT2Explore the universe of human proteins at neXtProt for RHBDD2: NX_Q6NTF9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6NTF9
RHBDD2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001035546.1 NP_001035547.1
ENSEMBL proteins: ENSP00000006777 ENSP00000403507 ENSP00000391232 ENSP00000314144
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
RHBDD2 for ontologies About GeneDecksing
RHBDD2 Antibody Products:
Assay Products for RHBDD2: |
Protein
Domains /
Families
for RHBDD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RHBDD2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6NTF9ProtoNet protein and cluster: Q6NTF9 1 Blocks protein family: IPB002610 Rhomboid-like protein
UniProtKB/Swiss-Prot: RHBD2_HUMAN, Q6NTF9Similarity: Belongs to the peptidase S54 family |
Function
for RHBDD2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
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 RHBDD2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDD2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): RHBDD2 (NM_001040456) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RHBDD2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDD2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004252 | serine-type endopeptidase activity |
IEA | -- |
RHBDD2 for ontologies About GeneDecksing
|
Pathways & Interactions
for RHBDD2 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 RHBDD2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
4 Interacting proteins for RHBDD2 (Q6NTF93 ENSP000000067774) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for RHBDD2 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 RHBDD2
Search CenterWatch for drugs/clinical trials and news about RHBDD2 / RHBD2
|
Transcripts
for RHBDD2 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,
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 RHBDD2 gene (3 alternative transcripts): NM_020684.2 NM_001040456.1 NM_001040457.1 Unigene Cluster for RHBDD2: Rhomboid domain containing 2 Hs.488827 [show with all ESTs]Unigene Representative Sequence: NM_00104045710 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000466232 ENST00000468644 ENST00000006777 ENST00000454791 ENST00000476218
ENST00000468304 ENST00000428119 ENST00000467406 ENST00000470957 ENST00000318622(uc003udv.1 uc003udw.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDD2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDD2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): RHBDD2 (NM_001040456) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RHBDD2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDD2 |
Additional cDNA sequence: AF226732.1 AK026590.1 BC006234.2 BC069017.1 18 DOTS entries: DT.100712002 DT.448851 DT.100037815 DT.121078101 DT.91760918 DT.100821667 DT.101984259 DT.40107293 DT.121078092 DT.95276407 DT.100037814 DT.100821668 DT.121078077 DT.97810745 DT.97848535 DT.100821675 DT.100821677 DT.91728492 24/534 AceView cDNA sequences (see all 534): BF346295 BU739830 CA310736 CN481952 F04007 BU617814 CF454916 AL558604 BE394425 CR620747 BG110984 CR624338 CR613112 BG469644 AW247172 CF454938 BE796299 CR603596 BI754840 BQ024997 AI925699 BI907337 BE383396 CR590707
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD2 (see all 8) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6a | · | 6b |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | | | | | | | |
| SP4: | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for RHBDD2
|
Expression
for RHBDD2 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
| RHBDD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTCTGCCT
About this image
See RHBDD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RHBDD2
SOURCE GeneReport for Unigene cluster: Hs.488827
SABiosciences Custom PCR Arrays for RHBDD2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHBDD2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RHBDD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHBDD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHBDD2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD2 |
Orthologs
for RHBDD2 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 chordates.
Orthologs for RHBDD2 gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for RHBDD2 (if available)
TreeFam Gene Tree for RHBDD2 (if available) |
Paralogs
for RHBDD2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RHBDD2 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 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RHBDD2 (75471920 - 75518244 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RHBDD2
2 CNVs: 3686 22956 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for RHBDD2 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
|
RHBDD2 for disorders About GeneDecksing
1  disease for RHBDD2: About MalaCardsbreast cancer
Export disorders for RHBDD2 gene to outside databases
|
Publications
for RHBDD2 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 RHBDD2 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with RHBDD2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer. (PubMed id 22965880)1 Lacunza E....Abba M.C. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
|
External Searches for RHBDD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RHBDD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RHBDD2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RHBDD2 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
|
| Name | Description |
| PharmGKB entry for RHBDD2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RHBDD2 gene:
Search GeneIP for patents involving RHBDD2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RHBDD2 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for RHBDD2 | | OriGene shRNA RFP for RHBDD2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHBDD2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHBDD2 | | | OriGene Protein Over-expression Lysate for RHBDD2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for RHBDD2 | | OriGene 3'-UTR Clone for RHBDD2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDD2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDD2 | | | 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 RHBDD2 | | OriGene Custom Protein Services for RHBDD2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RHBDD2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RHBDD2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDD2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHBDD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHBDD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHBDD2 |
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| | | | Search Tocris compounds for RHBDD2 |
| |  |  |  |  | | | | |
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 | | | RHBDD2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD2 |
|  |  |  | | | | ThermoFisher Antibodies for RHBDD2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDD2 |
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