RHBDL2 Gene
protein-coding GIFtS: 48
GCID: GC01M039351
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rhomboid, veinlet-like 2 (Drosophila)(Previous names: rhomboid (veinlet, Drosophila)-like 2 )
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Aliases for RHBDL2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Rhomboid, Veinlet-Like 2 (Drosophila)1 2 | | FLJ204351 | | Rhomboid (Veinlet, Drosophila)-Like 21 2 | | Rhomboid Protease 22 | | Rhomboid-Like Protein 22 3 | | Rhomboid-Related Protein 22 | | RRP22 3 | | EC 3.4.21.1053 |
Export aliases for RHBDL2 gene to outside databasesPrevious GC identifers: GC01M039276 GC01M038359 GC01M038815 GC01M038765 GC01M039021 GC01M039124 GC01M037469 |
Summaries for RHBDL2 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 RHBDL2: The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family containsproteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes andeukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to releasesoluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrinB3. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: RHBL2_HUMAN, Q9NX52Function: Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides fromtheir membrane anchors. Known substrate: EFNB3
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Genomic Views for RHBDL2 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_000001.10 NC_018912.1 NT_032977.9
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RHBDL2 gene promoter: Bach1 Roaz NF-AT NF-AT4 POU2F1 NF-AT2 POU2F1a NF-AT3 MRF-2 NF-AT1 Other transcription factors
Search SABiosciences Chromatin IP Primers for RHBDL2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDL2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p34.3 Ensembl cytogenetic band: 1p34.3 HGNC cytogenetic band: 1p35.1RHBDL2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M039351: view genomic region
(about GC identifiers)
Start:
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39,351,479 bp from pter |
End:
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39,407,471 bp from pter |
Size:
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55,993 bases |
Orientation:
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minus strand |
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Proteins for RHBDL2 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: RHBL2_HUMAN, Q9NX52 (See
protein sequence)Recommended Name: Rhomboid-related protein 2 Size: 303 amino acids; 34021 Da
Subcellular location: Rhomboid-related protein 2, C-terminal fragment: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH13103.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA91168.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RNT3 B9EH75 Q6P175 Q8NER8 Q96E02Alternative splicing: 2 isoforms: Q9NX52-1 Q9NX52-3 (May be due to an intron retention. No experimental confirmation available)Explore the universe of human proteins at neXtProt for RHBDL2: NX_Q9NX52
Post-translational modifications:
Proteolytic processing of the proenzyme produces a N-terminal fragment (NTF) and a C-terminal fragment (CTF). Theprocessing is required for activation of the protease1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NX52 RHBDL2 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_060291.2 ENSEMBL proteins: ENSP00000289248 ENSP00000441097 ENSP00000362076 ENSP00000439227 ENSP00000362081 Human Recombinant Protein Products for RHBDL2:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
RHBDL2 for ontologies About GeneDecksing
RHBDL2 Antibody Products: Assay Products for RHBDL2: |
Protein
Domains / Families for RHBDL2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RHBDL2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NX52ProtoNet protein and cluster: Q9NX52 1 Blocks protein family: IPB002610 Rhomboid-like protein
UniProtKB/Swiss-Prot: RHBL2_HUMAN, Q9NX52Similarity: Belongs to the peptidase S54 family |
Function for RHBDL2 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: RHBL2_HUMAN, Q9NX52Function: Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides fromtheir membrane anchors. Known substrate: EFNB3Catalytic activity: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine thatare contributed by different transmembrane domains Enzyme Number (IUBMB): EC 3.4.21.1051
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 |
IDA | 19850051 |
RHBDL2 for ontologies About GeneDecksing
Phenotypes: 1 GenomeRNAi human phenotype for RHBDL2: Animal 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 RHBDL2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDL2 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RHBDL2 (NM_017821) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL2 |
|
Pathways & Interactions for RHBDL2 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 RHBDL2
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
 3 Interacting proteins for RHBDL2 (Q9NX523 ENSP000002892484) via UniProtKB, MINT, STRING, and/or I2DAbout this table
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:0006508 | proteolysis |
IEA | -- |
RHBDL2 for ontologies About GeneDecksing
|
Drugs & Compounds for RHBDL2 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 RHBDL2 Search CenterWatch for drugs/clinical trials and news about RHBDL2 / RHBL2 
|
Transcripts for RHBDL2 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 RHBDL2 gene: NM_017821.3 Unigene Cluster for RHBDL2: Rhomboid, veinlet-like 2 (Drosophila) Hs.524626 [show with all ESTs]Unigene Representative Sequence: AK0976215 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000289248 ENST00000540558(uc001ccv.3) ENST00000372985 ENST00000538156 ENST00000372990(uc010oin.1 uc010oio.1 uc001ccu.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDL2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHBDL2 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: RHBDL2 (NM_017821) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RHBDL2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDL2  |
Additional cDNA sequence: AK097621.1 AK294115.1 AY126343.1 BC013103.1 BC137108.1 BC137110.1 BC144476.1 BC144477.1 7 DOTS entries: DT.121348336 DT.87016578 DT.91938592 DT.102822514 DT.86849383 DT.65286529 DT.102822513 24/538 AceView cDNA sequences (see all 538): CB132041 AI076839 AA165138 AF271261 AI148118 BQ777715 BU071030 AI765647 AI418896 CA307952 CB160441 BM791108 AI797354 AA581659 BM312296 AA904343 AA504831 CR608844 NM_030772 BC016668 NM_017821 AA352872 BI770903 AA505988 GeneLoc Exon Structure
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Expression for RHBDL2 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
| RHBDL2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AGTTCAAGAC
 About this image See RHBDL2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RHBDL2
SOURCE GeneReport for Unigene cluster: Hs.524626 SABiosciences Custom PCR Arrays for RHBDL2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHBDL2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RHBDL2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHBDL2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHBDL2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL2 |
Orthologs for RHBDL2 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 RHBDL2 gene from 4/16 species (see all 16) About this table
ENSEMBL Gene Tree for RHBDL2 (if available) TreeFam Gene Tree for RHBDL2 (if available)  |
Paralogs for RHBDL2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for RHBDL2 gene
- RHBDL12 RHBDL32
2 SIMAP similar genes for RHBDL2 using alignment to 3 protein entries: RHBL2_HUMAN (see all proteins):RHBDL1 RHBDL3
RHBDL2 for paralogs About GeneDecksing
|
Genomic Variants for RHBDL2 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 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for RHBDL2 (39351479 - 39407471 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for RHBDL2 1 CNV: 23108  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RHBDL2 |
|
Disorders
/ Diseases for RHBDL2 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
|
RHBDL2 for disorders About GeneDecksing
OMIM gene information: 608962
OMIM disorders: --
3 diseases for RHBDL2: About MalaCardslyme disease prostate cancer prostatitis Human Genome Epidemiology (HuGE) Navigator: RHBDL2 (1 document) Export disorders for RHBDL2 gene to outside databases
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Publications for RHBDL2 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 RHBDL2 gene, integrated from 9 sources (see all 13): (articles sorted by number of sources associating them with RHBDL2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2. (PubMed id 15047175)1, 2, 9 Pascall J.C. and Brown K.D. (2004)
- The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity. (PubMed id 19850051)1, 2 Lei X. and Li Y.M. (2009)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- 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)
- Drosophila Rhomboid-1 defines a family of putative intramembrane serine proteases. (PubMed id 11672525)1, 2 Urban S.... Freeman M. (2001)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PubMed id 22267201)1 Stolk L....Lunetta K.L. (2012)
- Mammalian EGF receptor activation by the rhomboid pro tease RHBDL2. (PubMed id 21494248)1 Adrain C....Freeman M. (2011)
- Functions of rhomboid family protease RHBDL2 and thro mbomodulin in wound healing. (PubMed id 21833011)1 Cheng T.L....Wu H.L. (2011)
- Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1 Xu J....Isaacs W.B. (2010)
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External Searches for RHBDL2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing RHBDL2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RHBDL2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RHBDL2 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 RHBDL2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for RHBDL2 gene: Search GeneIP for patents involving RHBDL2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for RHBDL2 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
|
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 | |
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 | | RHBDL2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL2 |
|  |  |  |  | | | Search ThermoFisher Antibodies for RHBDL2 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDL2 |
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