The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for pro... See more...

Aliases for RAB2A Gene

Aliases for RAB2A Gene

  • RAB2A, Member RAS Oncogene Family 2 3 5
  • RAB2, Member RAS Oncogene Family 2 3
  • Ras-Related Protein Rab-2A 3 4
  • RAB2 3 4
  • Small GTP Binding Protein RAB2A 3
  • RAB2A 5
  • LHX 3

External Ids for RAB2A Gene

Previous HGNC Symbols for RAB2A Gene

  • RAB2

Previous GeneCards Identifiers for RAB2A Gene

  • GC08P061593
  • GC08P061429
  • GC08P056918

Summaries for RAB2A Gene

Entrez Gene Summary for RAB2A Gene

  • The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for RAB2A Gene

RAB2A (RAB2A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB2A include Sezary's Disease and Chronic Salpingo-Oophoritis. Among its related pathways are Cell Cycle, Mitotic and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB2B.

UniProtKB/Swiss-Prot Summary for RAB2A Gene

  • Required for protein transport from the endoplasmic reticulum to the Golgi complex.

Gene Wiki entry for RAB2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB2A Gene

Genomics for RAB2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB2A 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 RAB2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB2A

Top Transcription factor binding sites by QIAGEN in the RAB2A gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E47
  • Egr-2
  • GATA-3
  • Nkx3-1
  • RSRFC4
  • Tal-1

Genomic Locations for RAB2A Gene

Latest Assembly
chr8:60,516,910-60,623,644
(GRCh38/hg38)
Size:
106,735 bases
Orientation:
Plus strand

Previous Assembly
chr8:61,429,469-61,536,203
(GRCh37/hg19 by Entrez Gene)
Size:
106,735 bases
Orientation:
Plus strand

chr8:61,429,416-61,536,186
(GRCh37/hg19 by Ensembl)
Size:
106,771 bases
Orientation:
Plus strand

Genomic View for RAB2A Gene

Genes around RAB2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB2A Gene

Proteins for RAB2A Gene

  • Protein details for RAB2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61019-RAB2A_HUMAN
    Recommended name:
    Ras-related protein Rab-2A
    Protein Accession:
    P61019
    Secondary Accessions:
    • B2R5W8
    • B4DMQ5
    • P08886

    Protein attributes for RAB2A Gene

    Size:
    212 amino acids
    Molecular mass:
    23546 Da
    Quaternary structure:
    • Interacts with PRKCI. Interacts with TRIP11 (PubMed:25473115).

    Three dimensional structures from OCA and Proteopedia for RAB2A Gene

    Alternative splice isoforms for RAB2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB2A Gene

Post-translational modifications for RAB2A Gene

  • Ubiquitination at Lys165
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAB2A Gene

Domains & Families for RAB2A Gene

Gene Families for RAB2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB2A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • GTP-binding nuclear protein Ran
  • Ras small GTPase, Ras type
  • Ras small GTPase, Rho type

Suggested Antigen Peptide Sequences for RAB2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51998, highly similar to Ras-related protein Rab-2A (B4DMQ5_HUMAN)
  • Ras-related protein Rab-2A (RAB2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61019

UniProtKB/Swiss-Prot:

RAB2A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB2A: view

Function for RAB2A Gene

Molecular function for RAB2A Gene

UniProtKB/Swiss-Prot Function:
Required for protein transport from the endoplasmic reticulum to the Golgi complex.

Phenotypes From GWAS Catalog for RAB2A Gene

Gene Ontology (GO) - Molecular Function for RAB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 16034420
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA,IDA 16034420
GO:0019003 GDP binding IDA 16034420
genes like me logo Genes that share ontologies with RAB2A: view
genes like me logo Genes that share phenotypes with RAB2A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB2A Gene

Localization for RAB2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB2A Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane. Lipid-anchor. Melanosome. Endoplasmic reticulum membrane. Lipid-anchor. Golgi apparatus membrane. Lipid-anchor. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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 RAB2A gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
lysosome 4
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus HDA 21630459
GO:0005765 lysosomal membrane HDA 17897319
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with RAB2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB2A Gene

Pathways & Interactions for RAB2A Gene

genes like me logo Genes that share pathways with RAB2A: view

Pathways by source for RAB2A Gene

1 KEGG pathway for RAB2A Gene
1 Qiagen pathway for RAB2A Gene
  • Epithelial Tight Junctions

SIGNOR curated interactions for RAB2A Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for RAB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 NOT ER to Golgi vesicle-mediated transport TAS,IMP 17684057
GO:0007030 Golgi organization IMP 17684057
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with RAB2A: view

Drugs & Compounds for RAB2A Gene

(2) Additional Compounds for RAB2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB2A: view

Transcripts for RAB2A Gene

mRNA/cDNA for RAB2A Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB2A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB2A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9
SP1: - - - -
SP2: - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for RAB2A Gene

GeneLoc Exon Structure for
RAB2A

Expression for RAB2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB2A Gene



Protein tissue co-expression partners for RAB2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB2A

SOURCE GeneReport for Unigene cluster for RAB2A Gene:

Hs.369017

Evidence on tissue expression from TISSUES for RAB2A Gene

  • Nervous system(5)
  • Skin(4.8)
  • Lung(4.2)
  • Kidney(3.4)
  • Pancreas(3.3)
  • Intestine(3.1)
  • Liver(3)
  • Muscle(3)
  • Heart(3)
  • Spleen(2.7)
  • Thyroid gland(2.6)
  • Eye(2.5)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Lymph node(2.3)
  • Bone marrow(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with RAB2A: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB2A Gene

Orthologs for RAB2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB2A 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB2A 30
  • 100 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB2A 30
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB2A 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB2A 29 30
  • 96.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab2a 29
  • 92.14 (n)
Mouse
(Mus musculus)
Mammalia Rab2a 29 16 30
  • 91.98 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RAB2A 29 30
  • 87.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB2A 30
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab2a 29
  • 83.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab2a 29 30
  • 81.76 (n)
OneToOne
Dr.20914 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.890 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rab2 29 30
  • 73.94 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005393 29
  • 72.93 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-108 29 30
  • 74.49 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT31 30
  • 41 (a)
ManyToMany
YPT32 30
  • 39 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RABB1C 29
  • 74.29 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.232 29
Soybean
(Glycine max)
eudicotyledons Gma.6653 29
Rice
(Oryza sativa)
Liliopsida Os02g0586400 29
  • 71.45 (n)
Os.8483 29
Barley
(Hordeum vulgare)
Liliopsida Hv.10692 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5309 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.388 30
  • 90 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5043 29
Species where no ortholog for RAB2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAB2A Gene

ENSEMBL:
Gene Tree for RAB2A (if available)
TreeFam:
Gene Tree for RAB2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB2A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB2A

Paralogs for RAB2A Gene

Pseudogenes.org Pseudogenes for RAB2A Gene

genes like me logo Genes that share paralogs with RAB2A: view

Variants for RAB2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB2A Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1586089899 Likely Benign: not provided 60,572,038(+) CTATT/C
NM_002865.3(RAB2A):c.119-5_119-2del
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB2A Gene

Variant ID Type Subtype PubMed ID
esv1615811 CNV insertion 17803354
esv2737065 CNV deletion 23290073
esv2737066 CNV deletion 23290073
esv2737067 CNV deletion 23290073
esv2737068 CNV deletion 23290073
esv3305193 CNV mobile element insertion 20981092
esv3309463 CNV mobile element insertion 20981092
esv3395150 CNV insertion 20981092
esv3431404 CNV insertion 20981092
esv3572784 CNV loss 25503493
esv3617376 CNV loss 21293372
nsv472821 CNV novel sequence insertion 20440878
nsv6218 CNV deletion 18451855
nsv831335 CNV loss 17160897

Variation tolerance for RAB2A Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB2A Gene

Human Gene Mutation Database (HGMD)
RAB2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB2A
Leiden Open Variation Database (LOVD)
RAB2A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB2A Gene

Disorders for RAB2A Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAB2A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
sezary's disease
  • sezary disease
chronic salpingo-oophoritis
  • chronic salpingitis and oophoritis
warburg micro syndrome 3
  • warbm3
warburg micro syndrome
  • micro syndrome
warburg micro syndrome 2
  • warbm2
- elite association - COSMIC cancer census association via MalaCards
Search RAB2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB2A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAB2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB2A Gene

Publications for RAB2A Gene

  1. Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210. (PMID: 25473115) Sato K … Lowe M (Molecular biology of the cell 2015) 3 4
  2. Regulation of anterograde transport of adrenergic and angiotensin II receptors by Rab2 and Rab6 GTPases. (PMID: 17716866) Dong C … Wu G (Cellular signalling 2007) 3 22
  3. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A … Hunt DF (Journal of proteome research 2006) 3 4
  4. Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. (PMID: 16034420) Eathiraj S … Lambright DG (Nature 2005) 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 RAB2A Gene

Sources for RAB2A Gene