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Aliases for RABEP2 Gene

Aliases for RABEP2 Gene

  • Rabaptin, RAB GTPase Binding Effector Protein 2 2 3 5
  • Rabaptin-5beta 2 3 4
  • Rab GTPase-Binding Effector Protein 2 3
  • Rabaptin-5 Beta 3
  • RABPT5B 4
  • FRA 3

External Ids for RABEP2 Gene

Previous GeneCards Identifiers for RABEP2 Gene

  • GC16M028954
  • GC16M028823
  • GC16M026783

Summaries for RABEP2 Gene

GeneCards Summary for RABEP2 Gene

RABEP2 (Rabaptin, RAB GTPase Binding Effector Protein 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and growth factor activity. An important paralog of this gene is RABEP1.

UniProtKB/Swiss-Prot for RABEP2 Gene

  • Plays a role in membrane trafficking and in homotypic early endosome fusion.

Additional gene information for RABEP2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RABEP2 Gene

Genomics for RABEP2 Gene

GeneHancer (GH) Regulatory Elements for RABEP2 Gene

Promoters and enhancers for RABEP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I028922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +12.2 12237 4.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A ZNF2 ZBTB7B GC16P028925 RABEP2 TUFM CDC37P1 GC16M028787
GH16I028936 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 550.8 -0.1 -61 1.1 HDGF ATF1 ARID4B E2F8 ATF7 SP3 SP5 NFYC MXD4 SNIP1 RABEP2 ENSG00000260853 SPNS1 NFATC2IP ATXN2L SMG1P2 ENSG00000260367 NPIPB12 ENSG00000198106 SGF29
GH16I028874 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 12.3 +58.6 58613 6.4 HDGF FEZF1 GLI4 ZNF2 GLIS2 ZNF213 E2F8 ZNF143 KLF7 FOS ATP2A1 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1-AS1 GC16M028787 ENSG00000261766
GH16I028861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 +71.9 71906 5.6 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC PPARGC1A SH2B1 ENSG00000261766 TUFM ATXN2L NPIPB12 NFATC2IP ENSG00000260853 SULT1A2 NPIPB10P ENSG00000198106
GH16I028973 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 -38.2 -38196 2.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 SPNS1 ENSG00000261067 ENSG00000261766 ATXN2L NPIPB12 NFATC2IP ENSG00000260853 CDIPT SULT1A2 ENSG00000247735
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RABEP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RABEP2 gene promoter:

Genomic Locations for RABEP2 Gene

Genomic Locations for RABEP2 Gene
32,106 bases
Minus strand

Genomic View for RABEP2 Gene

Genes around RABEP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RABEP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RABEP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RABEP2 Gene

Proteins for RABEP2 Gene

  • Protein details for RABEP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rab GTPase-binding effector protein 2
    Protein Accession:

    Protein attributes for RABEP2 Gene

    569 amino acids
    Molecular mass:
    63543 Da
    Quaternary structure:
    • Heterodimer with RABGEF1. The dimer binds RAB5A that has been activated by GTP-binding.
    • Sequence=BAB15594.1; Type=Frameshift; Positions=524; Evidence={ECO:0000305};

    Alternative splice isoforms for RABEP2 Gene


neXtProt entry for RABEP2 Gene

Post-translational modifications for RABEP2 Gene

  • Ubiquitination at Lys105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABEP2 Gene

Domains & Families for RABEP2 Gene

Gene Families for RABEP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RABEP2 Gene

Suggested Antigen Peptide Sequences for RABEP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the rabaptin family.
  • Belongs to the rabaptin family.
genes like me logo Genes that share domains with RABEP2: view

Function for RABEP2 Gene

Molecular function for RABEP2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in membrane trafficking and in homotypic early endosome fusion.

Phenotypes From GWAS Catalog for RABEP2 Gene

Gene Ontology (GO) - Molecular Function for RABEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with RABEP2: view
genes like me logo Genes that share phenotypes with RABEP2: view

Animal Model Products

CRISPR Products

miRNA for RABEP2 Gene

miRTarBase miRNAs that target RABEP2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RABEP2 Gene

Localization for RABEP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RABEP2 Gene

Cytoplasm. Early endosome.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RABEP2 gene
Compartment Confidence
cytosol 5
endosome 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RABEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RABEP2: view

Pathways & Interactions for RABEP2 Gene

SuperPathways for RABEP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0010469 regulation of receptor activity IEA --
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RABEP2: view

No data available for Pathways by source and SIGNOR curated interactions for RABEP2 Gene

Drugs & Compounds for RABEP2 Gene

(5) Drugs for RABEP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RABEP2: view

Transcripts for RABEP2 Gene

Unigene Clusters for RABEP2 Gene

Rabaptin, RAB GTPase binding effector protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RABEP2 Gene

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: - - - - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP11: - - - -
SP12: - - -
SP13: -
SP14: -
SP16: - -

ExUns: 15 ^ 16 ^ 17

Relevant External Links for RABEP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RABEP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RABEP2 Gene

Protein differential expression in normal tissues from HIPED for RABEP2 Gene

This gene is overexpressed in Lymph node (21.4) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RABEP2 Gene

Protein tissue co-expression partners for RABEP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RABEP2 Gene:


SOURCE GeneReport for Unigene cluster for RABEP2 Gene:


Evidence on tissue expression from TISSUES for RABEP2 Gene

  • Liver(4.2)
  • Nervous system(3.5)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with RABEP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABEP2 Gene

Orthologs for RABEP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RABEP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RABEP2 33 34
  • 99.29 (n)
(Bos Taurus)
Mammalia RABEP2 33 34
  • 89.17 (n)
(Canis familiaris)
Mammalia RABEP2 33 34
  • 88.79 (n)
(Mus musculus)
Mammalia Rabep2 33 16 34
  • 83.03 (n)
(Rattus norvegicus)
Mammalia Rabep2 33
  • 82.3 (n)
(Ornithorhynchus anatinus)
Mammalia RABEP2 34
  • 73 (a)
(Monodelphis domestica)
Mammalia RABEP2 34
  • 63 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 47 (a)
-- 34
  • 37 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19157 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1350 33
(Danio rerio)
Actinopterygii rabep2 34
  • 36 (a)
Species where no ortholog for RABEP2 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RABEP2 Gene

Gene Tree for RABEP2 (if available)
Gene Tree for RABEP2 (if available)

Paralogs for RABEP2 Gene

Paralogs for RABEP2 Gene

genes like me logo Genes that share paralogs with RABEP2: view

Variants for RABEP2 Gene

Sequence variations from dbSNP and Humsavar for RABEP2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs10499 benign, not specified, Brody myopathy 28,904,206(-) G/A downstream_transcript_variant
rs114173613 likely-benign, Brody myopathy 28,904,503(-) C/T 3_prime_UTR_variant
rs140984847 uncertain-significance, Brody myopathy 28,904,316(-) A/G downstream_transcript_variant
rs368850176 uncertain-significance, Brody myopathy 28,904,245(-) C/T downstream_transcript_variant
rs540528794 uncertain-significance, Brody myopathy 28,904,300(-) AT/ downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RABEP2 Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
esv2443571 CNV insertion 19546169
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3638349 CNV gain 21293372
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv513449 CNV insertion 21212237
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781

Variation tolerance for RABEP2 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RABEP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RABEP2 Gene

Disorders for RABEP2 Gene

Additional Disease Information for RABEP2

No disorders were found for RABEP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RABEP2 Gene

Publications for RABEP2 Gene

  1. Two distinct effectors of the small GTPase Rab5 cooperate in endocytic membrane fusion. (PMID: 9524116) Gournier H … Zerial M (The EMBO journal 1998) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RABEP2 Gene

Sources for RABEP2 Gene

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