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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
  • 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. 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.

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

Genomics for RABEP2 Gene

Regulatory Elements for RABEP2 Gene

Promoters for RABEP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RABEP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RABEP2 Gene

Chromosome:
16
Start:
28,904,421 bp from pter
End:
28,936,526 bp from pter
Size:
32,106 bases
Orientation:
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:
    Q9H5N1-RABE2_HUMAN
    Recommended name:
    Rab GTPase-binding effector protein 2
    Protein Accession:
    Q9H5N1

    Protein attributes for RABEP2 Gene

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

    Alternative splice isoforms for RABEP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RABEP2 Gene

Proteomics data for RABEP2 Gene at MOPED

Post-translational modifications for RABEP2 Gene

  • Ubiquitination at Lys 105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RABEP2 Gene

Domains & Families for RABEP2 Gene

Protein Domains for RABEP2 Gene

Suggested Antigen Peptide Sequences for RABEP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H5N1

UniProtKB/Swiss-Prot:

RABE2_HUMAN :
  • Belongs to the rabaptin family.
Family:
  • Belongs to the rabaptin family.
genes like me logo Genes that share domains with RABEP2: view

No data available for Gene Families for RABEP2 Gene

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.
genes like me logo Genes that share phenotypes with RABEP2: view

Animal Model Products

miRNA for RABEP2 Gene

miRTarBase miRNAs that target RABEP2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for RABEP2 Gene COMPARTMENTS Subcellular localization image for RABEP2 gene
Compartment Confidence
endosome 4
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for RABEP2 Gene

Pathways & Interactions for RABEP2 Gene

SuperPathways for RABEP2 Gene

No Data Available

Interacting Proteins for RABEP2 Gene

Gene Ontology (GO) - Biological Process for RABEP2 Gene

None

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: Novoseek and HMDB

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:

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: - - - - - -
SP10:
SP11: - - - -
SP12: - - -
SP13: -
SP14: -
SP15:
SP16: - -

ExUns: 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for RABEP2 Gene

GeneLoc Exon Structure for
RABEP2
ECgene alternative splicing isoforms for
RABEP2

Expression for RABEP2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for RABEP2 Gene



SOURCE GeneReport for Unigene cluster for RABEP2 Gene Hs.555978

genes like me logo Genes that share expression patterns with RABEP2: view

Protein tissue co-expression partners for RABEP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia RABEP2 36
  • 96 (a)
OneToOne
RABEP2 35
  • 99.29 (n)
  • 98.41 (a)
cow
(Bos Taurus)
Mammalia RABEP2 35
  • 89.17 (n)
  • 89.95 (a)
RABEP2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RABEP2 36
  • 89 (a)
OneToOne
RABEP2 35
  • 88.79 (n)
  • 91.19 (a)
mouse
(Mus musculus)
Mammalia Rabep2 16
Rabep2 36
  • 84 (a)
OneToOne
Rabep2 35
  • 83.03 (n)
  • 85.27 (a)
oppossum
(Monodelphis domestica)
Mammalia RABEP2 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RABEP2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rabep2 35
  • 82.3 (n)
  • 84.91 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 47 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.1350 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19157 35
zebrafish
(Danio rerio)
Actinopterygii rabep2 36
  • 36 (a)
OneToOne
Species with no ortholog for RABEP2:
  • 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

ENSEMBL:
Gene Tree for RABEP2 (if available)
TreeFam:
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

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

Variant ID Type Subtype PubMed ID
dgv842e1 CNV Complex 17122850
nsv905700 CNV Loss 21882294
nsv905701 CNV Loss 21882294
nsv905702 CNV Gain+Loss 21882294
nsv518648 CNV Loss 19592680
nsv519100 CNV Gain 19592680
nsv513449 CNV Insertion 21212237
esv2443571 CNV Insertion 19546169

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)

Relevant External Links for RABEP2 Gene

HapMap Linkage Disequilibrium report
RABEP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RABEP2 Gene

Disorders for RABEP2 Gene

Relevant External Links for RABEP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (EMBO J. 1998) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines. (PMID: 25260751) Charlaftis N. … Gallagher E. (EMBO J. 2014) 3
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3

Products for RABEP2 Gene

Sources for RABEP2 Gene

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