RABEP2 Gene
protein-coding GIFtS: 46
GCID: GC16M028915
|
|
rabaptin, RAB GTPase binding effector protein 2
| |
Aliases
for RABEP2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rabaptin, RAB GTPase Binding Effector Protein 21 2 | | Rabaptin-5 Beta2 | | FRA1 2 | | Rabaptin-5beta3 | | FLJ232821 | | RABPT5B3 | | Rab GTPase-Binding Effector Protein 22 | | Rabaptin-5beta3 |
Export aliases for RABEP2 gene to outside databasesPrevious GC identifers: GC16M028954 GC16M028823 GC16M026783 |
Summaries
for RABEP2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: RABE2_HUMAN, Q9H5N1Function: Plays a role in membrane trafficking and in homotypic early endosome fusion
|
Genomic Views
for RABEP2 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_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RABEP2 gene promoter:
STAT1 AP-1 ATF-2 STAT1beta STAT1alpha CRE-BP1 STAT2 STAT3 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for RABEP2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABEP2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p12.1RABEP2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M028915: view genomic region
(about GC identifiers)
Start:
|
28,915,742 bp from pter |
End:
|
28,947,847 bp from pter |
Size:
|
32,106 bases |
Orientation:
|
minus strand |
|
Proteins
for RABEP2 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: RABE2_HUMAN, Q9H5N1 (See
protein sequence)Recommended Name: Rab GTPase-binding effector protein 2 Size: 569 amino acids; 63543 Da
Subunit: Heterodimer with RABGEF1. The dimer binds RAB5A that has been activated by GTP-binding
Subcellular location: Cytoplasm. Early endosome
Sequence caution: Sequence=BAB15594.1; Type=Frameshift; Positions=524;Alternative splicing: 2 isoforms: Q9H5N1-1 Q9H5N1-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RABEP2: NX_Q9H5N1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H5N1
RABEP2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_079092.2
ENSEMBL proteins: ENSP00000350186 ENSP00000350934 ENSP00000442798 ENSP00000454968 ENSP00000457040 ENSP00000457495 ENSP00000454974 ENSP00000454510
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:0005769 | early endosome |
IEA | -- |
RABEP2 for ontologies About GeneDecksing
RABEP2 Antibody Products:
Assay Products for RABEP2: |
Protein
Domains /
Families
for RABEP2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RABEP2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H5N1ProtoNet protein and cluster: Q9H5N1 UniProtKB/Swiss-Prot: RABE2_HUMAN, Q9H5N1Similarity: Belongs to the rabaptin family |
Function
for RABEP2 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
|
Function Summary:
UniProtKB/Swiss-Prot: RABE2_HUMAN, Q9H5N1Function: Plays a role in membrane trafficking and in homotypic early endosome fusion
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 RABEP2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RABEP2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABEP2 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004674 | protein serine/threonine kinase activity |
IEA | -- | | GO:0005096 | GTPase activator activity |
IEA | -- | | GO:0005524 | ATP binding |
IEA | -- | | GO:0008083 | growth factor activity |
IEA | -- |
RABEP2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for RABEP2:
|
Pathways & Interactions
for RABEP2 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 RABEP2
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5 Interacting proteins for RABEP2 (ENSP000003509344) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
RABEP2 for ontologies About GeneDecksing
|
Drugs & Compounds
for RABEP2 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
|
RABEP2 for compounds About GeneDecksing
 Browse Tocris compounds for RABEP2
1 HMDB Compound for RABEP2 About this table
4 Novoseek chemical compound relationships for RABEP2 gene About this table
Search CenterWatch for drugs/clinical trials and news about RABEP2 / RABE2
|
Transcripts
for RABEP2 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 RABEP2 gene: NM_024816.2 Unigene Cluster for RABEP2: Rabaptin, RAB GTPase binding effector protein 2 Hs.555978 [show with all ESTs]Unigene Representative Sequence: AK09229914 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000357573(uc010byn.3) ENST00000358201(uc002drq.3 uc010vdf.2)
ENST00000544477 ENST00000562590(uc002drr.3) ENST00000568703 ENST00000567483
ENST00000561501 ENST00000566762 ENST00000561803 ENST00000564473 ENST00000562475
ENST00000570030 ENST00000564579 ENST00000563577
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RABEP2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RABEP2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RABEP2 (NM_024816) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RABEP2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RABEP2 |
Additional cDNA sequence: AK026935.1 AK092299.1 AK129668.1 AK295229.1 AY129017.1 BC027584.1 BC046118.1 BC058900.1 23 DOTS entries: DT.317108 DT.400328 DT.40232035 DT.100812663 DT.101982511 DT.75146602 DT.100733603 DT.303879 DT.92424851 DT.101954086 DT.102843668 DT.102843694 DT.86854683 DT.91787641 DT.100793777 DT.100812659 DT.120695486 DT.120695543 DT.120696967 DT.95090635 DT.99939261 DT.100722106 DT.100793782 24/125 AceView cDNA sequences (see all 125): AX747462 BI912514 BU631764 BQ072641 CD723526 BF436612 CD110237 BC058900 AI126989 AI972778 AK092299 BP358132 BQ641911 BM456690 BM725364 F00003 BQ949976 CD723553 BC046118 AI143085 CB996405 BM423980 BX349214 AW136769
GeneLoc Exon Structure
5/16 Alternative Splicing Database (ASD) splice patterns (SP) for RABEP2 (see all 16) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | - | | - | | | | - | | - | | - | | - | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | |
| SP3: | | | | | - | | - | | | | | | - | | - | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | - | | - | | - | | - | | - | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | | | | | - | | - | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 15 | ^ | 16 | ^ | 17 |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for RABEP2
|
Expression
for RABEP2 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
| RABEP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See RABEP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RABEP2
SOURCE GeneReport for Unigene cluster: Hs.555978
SABiosciences Custom PCR Arrays for RABEP2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RABEP2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RABEP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RABEP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RABEP2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABEP2 |
Orthologs
for RABEP2 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 RABEP2 gene from 6/19 species (see all 19) About this table
ENSEMBL Gene Tree for RABEP2 (if available)
TreeFam Gene Tree for RABEP2 (if available) |
Paralogs
for RABEP2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RABEP2 gene
- RABEP12
RABEP2 for paralogs About GeneDecksing
|
Genomic Variants
for RABEP2 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 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RABEP2 (28915742 - 28947847 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RABEP2
1 CNV: 3999
1 Indel: 102244 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RABEP2 |
|
Disorders
/ Diseases
for RABEP2 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
|
RABEP2 for disorders About GeneDecksing
OMIM gene information: 611869
OMIM disorders: --
12  diseases for RABEP2: About MalaCardstransient global amnesia retrograde amnesia fragile x syndrome intellectual disability
brain injury plague down syndrome multiple sclerosis
pertussis alzheimer's disease seizures neuronitis
Export disorders for RABEP2 gene to outside databases
|
Publications
for RABEP2 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 RABEP2 gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with RABEP2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Two distinct effectors of the small GTPase Rab5 cooperate in endocytic membrane fusion. (PubMed id 9524116)1, 2 Gournier H.... Zerial M. (1998)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders. (PubMed id 17254320)1 Chiappetta G....Fusco A. (2007)
|
External Searches for RABEP2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RABEP2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RABEP2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RABEP2 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 RABEP2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RABEP2 gene:
Search GeneIP for patents involving RABEP2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RABEP2 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
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RABEP2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RABEP2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RABEP2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RABEP2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RABEP2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RABEP2 |
| |
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 | | | RABEP2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RABEP2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RABEP2 |
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