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Aliases for RAB4A Gene

Aliases for RAB4A Gene

  • RAB4A, Member RAS Oncogene Family 2 3 5
  • RAB4 3 4
  • HTLV-1 Related Endogenous Sequence 3
  • Ras-Related Protein Rab-4A 3
  • HRES-1/RAB4 3
  • HRES-1 3
  • HRES1 3

External Ids for RAB4A Gene

Previous HGNC Symbols for RAB4A Gene

  • RAB4

Previous GeneCards Identifiers for RAB4A Gene

  • GC01P227854
  • GC01P225101
  • GC01P225807
  • GC01P226368
  • GC01P225713
  • GC01P227473
  • GC01P229406
  • GC01P199897

Summaries for RAB4A Gene

Entrez Gene Summary for RAB4A Gene

  • This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for RAB4A Gene

RAB4A (RAB4A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB4A include Chilblain Lupus and Charcot-Marie-Tooth Disease, Type 4D. Among its related pathways are RAB geranylgeranylation and Metabolism. GO annotations related to this gene include GTP binding and protein transporter activity. An important paralog of this gene is RAB4B-EGLN2.

UniProtKB/Swiss-Prot for RAB4A Gene

  • Protein transport. Probably involved in vesicular traffic (By similarity).

Gene Wiki entry for RAB4A Gene

Additional gene information for RAB4A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB4A Gene

Genomics for RAB4A Gene

Regulatory Elements for RAB4A Gene

Enhancers for RAB4A 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
GH01H229267 1.6 Ensembl ENCODE dbSUPER 6 -0.4 -411 5.4 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 CBX5 NUP133 URB2 ENSG00000269890 HIST3H3 CCSAP TAF5L TMEM78 ABCB10 HMGN2P19 RAB4A
GH01H229478 0.8 ENCODE 11.3 +209.0 209008 3 HDGF PKNOX1 EBF1 BATF ZNF766 POLR2A EED ETV6 RUNX3 IKZF2 HMGN2P19 TMEM78 LOC105373159 RAB4A ACTA1 RNU4-21P ABCB10 RNU6-180P CCSAP GC01M229453
GH01H229273 1.6 FANTOM5 ENCODE dbSUPER 4.3 +3.0 3017 1.4 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 SP5 REST CCSAP TMEM78 RAB4A GC01P229305 GC01P229306
GH01H229278 0.8 dbSUPER 6.8 +8.0 8023 2 PKNOX1 ATF1 ARID4B CEBPG THRB RARA ZNF121 ZNF316 POLR2A ZNF366 CCSAP SPHAR ENSG00000237481 RNU6-180P TMEM78 ACTA1 ABCB10 RNU4-21P RAB4A GC01P229306
GH01H229326 0.4 Ensembl 11.6 +55.2 55239 0.2 PKNOX1 LOC105373159 RAB4A RNU6-180P GC01M228906 CCSAP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB4A on UCSC Golden Path with GeneCards custom track

Promoters for RAB4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000021466 438 1401 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 CBX5

Genomic Locations for RAB4A Gene

Genomic Locations for RAB4A Gene
34,833 bases
Plus strand

Genomic View for RAB4A Gene

Genes around RAB4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB4A Gene

Proteins for RAB4A Gene

  • Protein details for RAB4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ras-related protein Rab-4A
    Protein Accession:
    Secondary Accessions:
    • Q5T7P7
    • Q9BQ44

    Protein attributes for RAB4A Gene

    218 amino acids
    Molecular mass:
    24390 Da
    Quaternary structure:
    • Interacts with SGSM1, SGSM2 and SGSM3 (By similarity). Interacts with RAB11FIP1, RABEP1, ZFYVE20 and RUFY1. Interacts (membrane-bound form) with NDRG1; the interaction involves NDRG1 in vesicular recycling of E-cadherin. Does not interact with HPS4 (By similarity).
    • Sequence=AAA60244.1; Type=Frameshift; Positions=6; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB4A Gene

neXtProt entry for RAB4A Gene

Post-translational modifications for RAB4A Gene

Other Protein References for RAB4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB4A Gene

Domains & Families for RAB4A Gene

Gene Families for RAB4A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB4A Gene

Suggested Antigen Peptide Sequences for RAB4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the small GTPase superfamily. Rab family.
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB4A: view

Function for RAB4A Gene

Molecular function for RAB4A Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Probably involved in vesicular traffic (By similarity).

Phenotypes From GWAS Catalog for RAB4A Gene

Gene Ontology (GO) - Molecular Function for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IEA --
GO:0003924 GTPase activity TAS,IEA --
GO:0005515 protein binding IPI 16034420
GO:0005525 GTP binding IEA,IDA 15907487
GO:0008565 protein transporter activity IEA --
genes like me logo Genes that share ontologies with RAB4A: view
genes like me logo Genes that share phenotypes with RAB4A: view

Animal Model Products

CRISPR Products

miRNA for RAB4A Gene

miRTarBase miRNAs that target RAB4A

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB4A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB4A Gene

Localization for RAB4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB4A Gene

Membrane; Peripheral membrane protein. Cytoplasm. Note=Generally associated with membranes. Cytoplasmic when phosphorylated by CDK1.

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 RAB4A gene
Compartment Confidence
extracellular 5
endosome 5
plasma membrane 4
cytosol 4
cytoskeleton 2
lysosome 2
golgi apparatus 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB4A Gene

Pathways & Interactions for RAB4A Gene

genes like me logo Genes that share pathways with RAB4A: view

SIGNOR curated interactions for RAB4A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0019882 antigen processing and presentation IMP 19717423
GO:0030100 regulation of endocytosis IBA --
genes like me logo Genes that share ontologies with RAB4A: view

Drugs & Compounds for RAB4A Gene

(1) Drugs for RAB4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for RAB4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB4A: view

Transcripts for RAB4A Gene

Unigene Clusters for RAB4A Gene

RAB4A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RAB4A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB4A Gene

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

Relevant External Links for RAB4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RAB4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB4A Gene

Protein differential expression in normal tissues from HIPED for RAB4A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.5) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB4A Gene

Protein tissue co-expression partners for RAB4A Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB4A Gene:


SOURCE GeneReport for Unigene cluster for RAB4A Gene:


Evidence on tissue expression from TISSUES for RAB4A Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Heart(2.4)
  • Muscle(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RAB4A: 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 RAB4A Gene

Orthologs for RAB4A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB4A Gene

Organism Taxonomy Gene Similarity Type Details
(Monodelphis domestica)
Mammalia RAB4A 34
  • 99 (a)
(Canis familiaris)
Mammalia RAB4A 33 34
  • 93.73 (n)
(Pan troglodytes)
Mammalia RAB4A 34
  • 91 (a)
(Bos Taurus)
Mammalia RAB4A 33 34
  • 90.98 (n)
(Rattus norvegicus)
Mammalia Rab4a 33
  • 86.54 (n)
(Mus musculus)
Mammalia Rab4a 16 34 33
  • 86.54 (n)
(Gallus gallus)
Aves RAB4A 33 34
  • 85.17 (n)
(Anolis carolinensis)
Reptilia RAB4A 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7138 33
African clawed frog
(Xenopus laevis)
Amphibia rab4a-prov 33
(Danio rerio)
Actinopterygii rab4a 33 34
  • 79.5 (n)
wufc93b03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10002 33
fruit fly
(Drosophila melanogaster)
Insecta Rab4 35 34
  • 77 (a)
(Caenorhabditis elegans)
Secernentea F11A5.4 35
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00889 33
  • 55.14 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt4 33
  • 53.2 (n)
Species where no ortholog for RAB4A 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for RAB4A Gene

Gene Tree for RAB4A (if available)
Gene Tree for RAB4A (if available)

Paralogs for RAB4A Gene

Variants for RAB4A Gene

Sequence variations from dbSNP and Humsavar for RAB4A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000000052 -- 229,295,311(+) AGACG(A/C)CTTCT intron-variant
rs1000249294 -- 229,288,968(+) CAGAA(A/G)CTTCA intron-variant
rs1000269996 -- 229,289,740(+) GAACC(C/T)GGGAG intron-variant
rs1000551134 -- 229,294,624(+) CATCC(A/G)AGGTC intron-variant
rs1000553794 -- 229,290,763(+) GAGCA(A/G)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB4A Gene

Variant ID Type Subtype PubMed ID
nsv827119 CNV gain 20364138
nsv549299 CNV gain 21841781
esv3589072 CNV gain 21293372
esv3589070 CNV loss 21293372
esv2673164 CNV deletion 23128226
esv25148 CNV loss 19812545

Variation tolerance for RAB4A Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB4A Gene

Disorders for RAB4A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
chilblain lupus
  • lupus erythematosus, cutaneous
charcot-marie-tooth disease, type 4d
  • charcot-marie-tooth disease type 4d
- elite association - COSMIC cancer census association via MalaCards
Search RAB4A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAB4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RAB4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB4A Gene

Publications for RAB4A Gene

  1. High resolution crystal structures of human Rab4a in its active and inactive conformations. (PMID: 15907487) Huber SK … Scheidig AJ (FEBS letters 2005) 3 4 22 60
  2. Rab coupling protein (RCP), a novel Rab4 and Rab11 effector protein. (PMID: 11786538) Lindsay AJ … McCaffrey MW (The Journal of biological chemistry 2002) 3 4 22 60
  3. Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes. (PMID: 11788822) de Renzis S … Zerial M (Nature cell biology 2002) 3 4 22 60
  4. Reversible phosphorylation--dephosphorylation determines the localization of rab4 during the cell cycle. (PMID: 1425574) van der Sluijs P … Mellman I (The EMBO journal 1992) 3 4 22 60
  5. D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling. (PMID: 19797056) Eggers CT … Taylor SS (The Journal of biological chemistry 2009) 3 22 60

Products for RAB4A Gene

  • Addgene plasmids for RAB4A

Sources for RAB4A Gene

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