Aliases for RAB20 Gene

Aliases for RAB20 Gene

  • RAB20, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-20 3 4
  • FLJ20429 2
  • RAB20 5

External Ids for RAB20 Gene

Previous GeneCards Identifiers for RAB20 Gene

  • GC13M109535
  • GC13M105562
  • GC13M110012
  • GC13M108873
  • GC13M109973
  • GC13M111175
  • GC13M091774

Summaries for RAB20 Gene

GeneCards Summary for RAB20 Gene

RAB20 (RAB20, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB20 include Laryngeal Tuberculosis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB36.

UniProtKB/Swiss-Prot Summary for RAB20 Gene

  • Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB20 Gene

Genomics for RAB20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB20 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 RAB20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB20

Top Transcription factor binding sites by QIAGEN in the RAB20 gene promoter:
  • c-Ets-1
  • C/EBPalpha
  • CP2
  • HOXA3
  • HSF1 (long)
  • HSF1short
  • MEF-2
  • MEF-2A
  • Roaz
  • STAT3

Genomic Locations for RAB20 Gene

Latest Assembly
chr13:110,523,066-110,561,722
(GRCh38/hg38)
Size:
38,657 bases
Orientation:
Minus strand

Previous Assembly
chr13:111,175,413-111,214,069
(GRCh37/hg19 by Entrez Gene)
Size:
38,657 bases
Orientation:
Minus strand

chr13:111,175,417-111,214,080
(GRCh37/hg19 by Ensembl)
Size:
38,664 bases
Orientation:
Minus strand

Genomic View for RAB20 Gene

Genes around RAB20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB20 Gene

Proteins for RAB20 Gene

  • Protein details for RAB20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX57-RAB20_HUMAN
    Recommended name:
    Ras-related protein Rab-20
    Protein Accession:
    Q9NX57
    Secondary Accessions:
    • Q5T9X5
    • Q9NX49

    Protein attributes for RAB20 Gene

    Size:
    234 amino acids
    Molecular mass:
    26277 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB20 Gene

Post-translational modifications for RAB20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB20 Gene

Domains & Families for RAB20 Gene

Gene Families for RAB20 Gene

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

Protein Domains for RAB20 Gene

Suggested Antigen Peptide Sequences for RAB20 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-20 (RAB20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX57

UniProtKB/Swiss-Prot:

RAB20_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 RAB20: view

Function for RAB20 Gene

Molecular function for RAB20 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.

Phenotypes From GWAS Catalog for RAB20 Gene

Gene Ontology (GO) - Molecular Function for RAB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB20: view
genes like me logo Genes that share phenotypes with RAB20: view

Animal Models for RAB20 Gene

MGI Knock Outs for RAB20:
  • Rab20 Rab20<tm1a(EUCOMM)Hmgu>
  • Rab20 Rab20<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RAB20 Gene

Localization for RAB20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB20 Gene

Golgi apparatus. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Note=Highly enriched on apical endocytic structures in polarized epithelial cells of kidney proximal tubules (By similarity). Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000250 UniProtKB:P35295, ECO:0000269 PubMed:21255211}.

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 RAB20 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2
endosome 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IDA --
GO:0012505 endomembrane system IBA 21873635
GO:0016020 membrane IEA --
GO:0030670 phagocytic vesicle membrane IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with RAB20: view

Pathways & Interactions for RAB20 Gene

genes like me logo Genes that share pathways with RAB20: view

Pathways by source for RAB20 Gene

1 Sino Biological pathway for RAB20 Gene
1 Qiagen pathway for RAB20 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0071346 cellular response to interferon-gamma IEA --
GO:0090383 phagosome acidification IMP 21255211
GO:0090385 phagosome-lysosome fusion IMP 21255211
genes like me logo Genes that share ontologies with RAB20: view

No data available for SIGNOR curated interactions for RAB20 Gene

Drugs & Compounds for RAB20 Gene

No Compound Related Data Available

Transcripts for RAB20 Gene

mRNA/cDNA for RAB20 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 RAB20

Alternative Splicing Database (ASD) splice patterns (SP) for RAB20 Gene

No ASD Table

Relevant External Links for RAB20 Gene

GeneLoc Exon Structure for
RAB20

Expression for RAB20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB20 Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for RAB20 Gene

This gene is overexpressed in Pancreas (15.0), Platelet (10.5), Liver (9.6), Spleen (7.8), and Testis (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB20 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB20

SOURCE GeneReport for Unigene cluster for RAB20 Gene:

Hs.743563

mRNA Expression by UniProt/SwissProt for RAB20 Gene:

Q9NX57-RAB20_HUMAN
Tissue specificity: Low or absent expression in normal pancreas and stronger expression in 15 of 18 exocrine pancreatic adenocarcinomas (at protein level).

Evidence on tissue expression from TISSUES for RAB20 Gene

  • Lung(4.3)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with RAB20: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB20 Gene

Orthologs for RAB20 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB20 29 30
  • 98.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB20 29 30
  • 83.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab20 29 16 30
  • 81.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab20 29
  • 81.9 (n)
Cow
(Bos Taurus)
Mammalia RAB20 29 30
  • 80.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB20 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB20 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB20 29 30
  • 76.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB20 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab20 29
  • 67.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab20 29 30
  • 64.7 (n)
OneToOne
wufb01f02 29
Fruit Fly
(Drosophila melanogaster)
Insecta chrw 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 23 (a)
OneToMany
Species where no ortholog for RAB20 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)
  • 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 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 RAB20 Gene

ENSEMBL:
Gene Tree for RAB20 (if available)
TreeFam:
Gene Tree for RAB20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB20: view image
Alliance of Genome Resources:
Additional Orthologs for RAB20

Paralogs for RAB20 Gene

Variants for RAB20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB20 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs426453 -- p.Asn134Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB20 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 RAB20 Gene

Variant ID Type Subtype PubMed ID
esv1619657 CNV deletion 17803354
esv3580900 CNV loss 25503493
esv3580901 CNV loss 25503493
nsv1038914 CNV loss 25217958
nsv1044234 CNV gain 25217958
nsv1046291 CNV loss 25217958
nsv1046423 CNV gain 25217958
nsv1070198 CNV deletion 25765185
nsv1134351 CNV deletion 24896259
nsv509516 CNV insertion 20534489
nsv832720 CNV loss 17160897

Variation tolerance for RAB20 Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB20
Leiden Open Variation Database (LOVD)
RAB20

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB20 Gene

Disorders for RAB20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB20 Gene - From: COP

Disorder Aliases PubMed IDs
laryngeal tuberculosis
  • tuberculosis, laryngeal
- elite association - COSMIC cancer census association via MalaCards
Search RAB20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB20

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 RAB20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB20 Gene

Publications for RAB20 Gene

  1. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Characterization of human Rab20 overexpressed in exocrine pancreatic carcinoma. (PMID: 16613320) Amillet JM … Goubin G (Human pathology 2006) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RAB20 Gene

Sources for RAB20 Gene