This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010] See more...

Aliases for RAB40A Gene

Aliases for RAB40A Gene

  • RAB40A, Member RAS Oncogene Family 2 3 5
  • SOCS Box-Containing Protein RAR2A 3 4
  • Ras-Related Protein Rab-40A 3 4
  • Protein Rar-2 3 4
  • RAR2A 2 3
  • RAB40A 5
  • Rar-2 2
  • RAR2 3

External Ids for RAB40A Gene

Previous GeneCards Identifiers for RAB40A Gene

  • GC0XM098056
  • GC0XM099663
  • GC0XM100787
  • GC0XM101526
  • GC0XM102560
  • GC0XM102641
  • GC0XM102754
  • GC0XM092410

Summaries for RAB40A Gene

Entrez Gene Summary for RAB40A Gene

  • This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010]

GeneCards Summary for RAB40A Gene

RAB40A (RAB40A, Member RAS Oncogene Family) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB40AL.

UniProtKB/Swiss-Prot Summary for RAB40A Gene

  • May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Gene Wiki entry for RAB40A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB40A Gene

Genomics for RAB40A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB40A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ103684 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.7 -167.2 -167212 5 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 IKZF1 MYC ZNF580 ATF2 POLR2A MORF4L2-AS1 MORF4L2 lnc-GLRA4-2 TMEM31 TCEAL3-AS1 BEX4 RAB40A piR-34093-039 TCEAL1
GH0XJ103438 Enhancer 0.8 Ensembl ENCODE 10.3 +77.8 77788 5.8 IKZF1 TAL1 ZNF316 NFE2 MAFG ZNF547 TCF12 TEAD4 ARID1B ZFX BEX4 BEX3 ENSG00000234405 ENSG00000224692 TCEAL8 RAB40A HSALNG0139305 piR-56883-210 LL0XNC01-250H12.3 ENSG00000281091
GH0XJ103552 Enhancer 0.8 Ensembl ENCODE 9.4 -33.0 -33012 0.6 CEBPA CEBPB ZFP64 JUND BCL6 HNF4A HMG20A RBPJ CEBPG NFIL3 RAB40A LINC02589 HSALNG0139312 TCEAL4
GH0XJ103655 Enhancer 0.9 Ensembl ENCODE 5.3 -138.2 -138197 4.2 ATF2 BRCA1 CEBPB MAX ZNF217 EP300 MBD2 FOXA2 CTBP1 RFX5 MORF4L2-AS1 MORF4L2 TCEAL3 TCEAL1 TCEAL3-AS1 PLP1 BEX4 BEX2 RAB40A piR-34093-039
GH0XJ103543 Enhancer 0.3 Ensembl 13 -23.3 -23312 0.4 GLIS1 RAB40A TCEAL1 TCEAL3-AS1 ENSG00000234405 HSALNG0139312 LINC02589 TCEAL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB40A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB40A

Top Transcription factor binding sites by QIAGEN in the RAB40A gene promoter:
  • AP-2rep
  • Cart-1
  • HNF-1
  • HNF-1A
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for RAB40A Gene

Latest Assembly
chrX:103,499,130-103,519,489
(GRCh38/hg38)
Size:
20,360 bases
Orientation:
Minus strand

Previous Assembly
chrX:102,754,058-102,774,417
(GRCh37/hg19 by Entrez Gene)
Size:
20,360 bases
Orientation:
Minus strand

chrX:102,754,678-102,774,417
(GRCh37/hg19 by Ensembl)
Size:
19,740 bases
Orientation:
Minus strand

Genomic View for RAB40A Gene

Genes around RAB40A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB40A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB40A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB40A Gene

Proteins for RAB40A Gene

  • Protein details for RAB40A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXH6-RB40A_HUMAN
    Recommended name:
    Ras-related protein Rab-40A
    Protein Accession:
    Q8WXH6
    Secondary Accessions:
    • O00407
    • Q17RQ5
    • Q6DK06
    • Q8TF06

    Protein attributes for RAB40A Gene

    Size:
    277 amino acids
    Molecular mass:
    31076 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB40A Gene

Post-translational modifications for RAB40A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB40A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB40A Gene

Domains & Families for RAB40A Gene

Gene Families for RAB40A Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for RAB40A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • SOCS protein, C-terminal

Suggested Antigen Peptide Sequences for RAB40A Gene

GenScript: Design optimal peptide antigens:
  • SOCS box-containing protein RAR2A (RB40A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXH6

UniProtKB/Swiss-Prot:

RB40A_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Belongs to the small GTPase superfamily. Rab family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB40A: view

Function for RAB40A Gene

Molecular function for RAB40A Gene

UniProtKB/Swiss-Prot Function:
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Phenotypes From GWAS Catalog for RAB40A Gene

Gene Ontology (GO) - Molecular Function for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB40A: view
genes like me logo Genes that share phenotypes with RAB40A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB40A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB40A Gene

Localization for RAB40A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB40A Gene

Cell membrane. Lipid-anchor. Cytoplasmic side.

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 RAB40A gene
Compartment Confidence
plasma membrane 3
endosome 3
cytosol 3
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0008021 synaptic vesicle IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB40A: view

Pathways & Interactions for RAB40A Gene

genes like me logo Genes that share pathways with RAB40A: view

Pathways by source for RAB40A Gene

1 Sino Biological pathway for RAB40A Gene

UniProtKB/Swiss-Prot Q8WXH6-RB40A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RAB40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0072659 protein localization to plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with RAB40A: view

No data available for SIGNOR curated interactions for RAB40A Gene

Drugs & Compounds for RAB40A Gene

No Compound Related Data Available

Transcripts for RAB40A Gene

mRNA/cDNA for RAB40A Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 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 RAB40A

Alternative Splicing Database (ASD) splice patterns (SP) for RAB40A Gene

No ASD Table

Relevant External Links for RAB40A Gene

GeneLoc Exon Structure for
RAB40A

Expression for RAB40A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB40A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB40A

SOURCE GeneReport for Unigene cluster for RAB40A Gene:

Hs.706904

Evidence on tissue expression from TISSUES for RAB40A Gene

  • Nervous system(4.4)
  • Lung(4)
genes like me logo Genes that share expression patterns with RAB40A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB40A Gene

Orthologs for RAB40A Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB40A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB40A 29 30
  • 99.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab40b 30
  • 82 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia RAB40B 30
  • 79 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 56 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 4 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RAB40B 30
  • 72 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 73 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii rab40b 30
  • 77 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1900 31
  • 58 (a)
Rab40 30
  • 57 (a)
OneToMany
Species where no ortholog for RAB40A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RAB40A Gene

ENSEMBL:
Gene Tree for RAB40A (if available)
TreeFam:
Gene Tree for RAB40A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB40A: view image
Alliance of Genome Resources:
Additional Orthologs for RAB40A

Paralogs for RAB40A Gene

genes like me logo Genes that share paralogs with RAB40A: view

Variants for RAB40A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB40A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1180895 -- p.His45Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB40A Gene

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

Variation tolerance for RAB40A Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.53; 77.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB40A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB40A
Leiden Open Variation Database (LOVD)
RAB40A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAB40A Gene

Disorders for RAB40A Gene

Additional Disease Information for RAB40A

No disorders were found for RAB40A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB40A Gene

Publications for RAB40A Gene

  1. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. (PMID: 16923123) Itoh T … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2006) 3 4
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  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
  4. Evolution of the Rab family of small GTP-binding proteins. (PMID: 11697911) Pereira-Leal JB … Seabra MC (Journal of molecular biology 2001) 2 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for RAB40A Gene

Sources for RAB40A Gene