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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. 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

Regulatory Elements for RABEP2 Gene

Enhancers for RABEP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H028874 1.3 Ensembl ENCODE 12.3 +58.6 58613 6 HDGF FEZF1 GLI4 ZNF2 GLIS2 ZNF143 KLF7 FOS RUNX3 SP3 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1 ENSG00000261766
GH16H028861 1.2 ENCODE 12.4 +71.9 71906 5 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 CBX5 TUFM ATXN2L ENSG00000260853 NPIPB12 NFATC2IP SPNS1 ENSG00000260367 SMG1P2 SULT1A2 NPIPB10P
GH16H028973 1.2 ENCODE 11.8 -38.2 -38196 2 FOXA2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ENSG00000261766 ATXN2L NPIPB12 NFATC2IP ENSG00000260853 SPNS1 CDIPT SULT1A2 ENSG00000247735 NPIPB9
GH16H028910 1.1 ENCODE dbSUPER 12.6 +25.8 25836 1 HDAC1 BATF FOSL1 ZNF324 HIC1 ZNF316 POLR2A ZBTB48 ZSCAN5C PATZ1 TUFM CD19 RABEP2 ATP2A1 NFATC2IP GC16P028925 GC16M028787
GH16H028542 1.2 FANTOM5 Ensembl ENCODE 10.4 +393.0 392963 1 ELF3 SAP130 MLX POLR2A CEBPA IKZF1 EBF1 SULT1A2 TUFM NPIPB7 APOBR CLN3 CD19 RABEP2 IL27 ENSG00000251417 SULT1A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RABEP2 on UCSC Golden Path with GeneCards custom track

Promoters for RABEP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084947 126 401 HDAC1 ELF3 TBP HDGF RB1 ARID4B ZBTB40 RAD21 EGR1 ATF7

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

Post-translational modifications for RABEP2 Gene

  • Ubiquitination at isoforms=2105
  • 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

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

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

  • Applied Biological Materials Clones for RABEP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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: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

  • Applied Biological Materials Clones for RABEP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

RABEP2

SOURCE GeneReport for Unigene cluster for RABEP2 Gene:

Hs.555978

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia RABEP2 33 34
  • 99.29 (n)
cow
(Bos Taurus)
Mammalia RABEP2 33 34
  • 89.17 (n)
dog
(Canis familiaris)
Mammalia RABEP2 33 34
  • 88.79 (n)
mouse
(Mus musculus)
Mammalia Rabep2 33 16 34
  • 83.03 (n)
rat
(Rattus norvegicus)
Mammalia Rabep2 33
  • 82.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RABEP2 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RABEP2 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 47 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19157 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1350 33
zebrafish
(Danio rerio)
Actinopterygii rabep2 34
  • 36 (a)
OneToOne
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

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

Sequence variations from dbSNP and Humsavar for RABEP2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs114173613 Likely benign 28,904,503(+) GTCGC(C/T)GCTGT utr-variant-3-prime
rs140984847 Uncertain significance 28,904,316(+) TATAA(A/G)CATGT downstream-variant-500B, utr-variant-3-prime
rs368850176 Uncertain significance 28,904,245(+) TGACA(C/T)ATCTT downstream-variant-500B, utr-variant-3-prime
rs540528794 Uncertain significance 28,904,300(+) GTGTC(-/AT)GTGTC downstream-variant-500B, utr-variant-3-prime
rs886051884 Uncertain significance 28,904,345(+) CCCTC(C/G)GCCAC downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for RABEP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RABEP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 (The EMBO journal 1998) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for RABEP2 Gene

Sources for RABEP2 Gene

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