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 4
  • FRA 2 3
  • Rabaptin-5 Beta 3
  • FLJ23282 2
  • RABPT5B 4
  • RABEP2 5

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. Diseases associated with RABEP2 include Brody Myopathy and Koolen-De Vries Syndrome. 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 Summary for RABEP2 Gene

  • Plays a role in membrane trafficking and in homotypic early endosome fusion (PubMed:9524116). Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking (PubMed:29425100). By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis (PubMed:27224062).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABEP2 Gene

Genomics for RABEP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RABEP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RABEP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABEP2

Top Transcription factor binding sites by QIAGEN in the RABEP2 gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • CRE-BP1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3

Genomic Locations for RABEP2 Gene

Genomic Locations for RABEP2 Gene
chr16:28,904,421-28,936,526
(GRCh38/hg38)
Size:
32,106 bases
Orientation:
Minus strand
chr16:28,915,742-28,947,847
(GRCh37/hg19)
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. Interacts with SDCCAG8; this interaction is important for ciliogenesis regulation (PubMed:27224062). Interacts with RAB4A; this interaction may mediate VEGFR2 cell surface expression (PubMed:29425100).
    SequenceCaution:
    • Sequence=BAB15594.1; Type=Frameshift; 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 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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57369, highly similar to Rab GTPase-binding effector protein 2 (B4DHR0_HUMAN)
  • RABEP2 protein (Q49AT6_HUMAN)
  • Rabaptin-5beta (RABE2_HUMAN)

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 (PubMed:9524116). Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking (PubMed:29425100). By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis (PubMed:27224062).

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:0005515 protein binding IPI 27224062
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABEP2

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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body.

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
cytoskeleton 5
cytosol 5
endosome 4
nucleus 3
plasma membrane 1
extracellular 1
lysosome 1

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:0005813 centrosome IDA 27224062
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with RABEP2: view

Pathways & Interactions for RABEP2 Gene

PathCards logo

SuperPathways for RABEP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RABEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization 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

mRNA/cDNA for RABEP2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABEP2

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

Expression for RABEP2 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for RABEP2 Gene



Protein tissue co-expression partners for RABEP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.8)
  • Muscle(2.7)
genes like me logo Genes that share expression patterns with RABEP2: view

No data available for 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 30 31
  • 99.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RABEP2 30 31
  • 89.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RABEP2 30 31
  • 88.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rabep2 30 17 31
  • 83.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rabep2 30
  • 82.3 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RABEP2 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RABEP2 31
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 47 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.1350 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.19157 30
Zebrafish
(Danio rerio)
Actinopterygii rabep2 31
  • 36 (a)
OneToOne
Species where no ortholog for RABEP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RABEP2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABEP2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710473 Benign: not provided 28,905,054(-) C/T INTRON_VARIANT
721642 Benign: not provided 28,908,723(-) T/C SYNONYMOUS_VARIANT
rs114173613 Benign: Brody myopathy 28,904,503(-) C/T THREE_PRIME_UTR_VARIANT
rs886051885 Uncertain Significance: Brody myopathy 28,904,492(-) G/A THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RABEP2 Gene

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
RABEP2

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

Disorders for RABEP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RABEP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brody myopathy
  • brody disease
koolen-de vries syndrome
  • kdvs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RABEP2: view

No data available for 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
  2. Rab-GTPase binding effector protein 2 (RABEP2) is a primed substrate for Glycogen Synthase kinase-3 (GSK3). (PMID: 29247183) Logie L … Sutherland C (Scientific reports 2017) 3 4
  3. SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. (PMID: 27224062) Airik R … Hildebrandt F (PloS one 2016) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for RABEP2 Gene

Sources for RABEP2 Gene