Aliases for RAB6B Gene

Aliases for RAB6B Gene

  • RAB6B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-6B 3 4
  • Small GTP-Binding Protein 3
  • Small GTPase RAB6B 3
  • RAB6B 5

External Ids for RAB6B Gene

Previous GeneCards Identifiers for RAB6B Gene

  • GC03M130506
  • GC03M134292
  • GC03M134828
  • GC03M134868
  • GC03M135025
  • GC03M133543
  • GC03M130921

Summaries for RAB6B Gene

GeneCards Summary for RAB6B Gene

RAB6B (RAB6B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB6B include Charcot-Marie-Tooth Disease, Recessive Intermediate A and Charcot-Marie-Tooth Disease, Axonal, Type 2K. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and myosin V binding. An important paralog of this gene is RAB6A.

UniProtKB/Swiss-Prot Summary for RAB6B Gene

  • Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells.

Gene Wiki entry for RAB6B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB6B Gene

Genomics for RAB6B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB6B 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
GH03J133895 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 265.2 +0.4 381 2.2 ZNF600 ZIC2 NFIC ZNF341 ZNF148 SIN3A ZNF513 KLF9 CTBP1 ZNF610 RAB6B RYK INHCAP piR-31199-236 SRPRB
GH03J134347 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -466.0 -465960 29.2 ZNF600 SSRP1 JUND ATF2 ZNF223 ZSCAN16 BRCA1 POLR2A ZIC2 ZBTB10 AMOTL2 ENSG00000260633 RYK TOPBP1 INHCAP RAB6B lnc-AMOTL2-3 MIR6827 RPL39P5 lnc-ANAPC13-2
GH03J133568 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 +322.3 322278 11.4 BCLAF1 SP1 ZNF207 MYC IKZF1 JUND ZNF592 ZMYM3 POLR2A ATF3 CDV3 ENSG00000272832 MN298035 TOPBP1 SRPRB INHCAP RAB6B NPHP3 UBA5 lnc-CDV3-1
GH03J133874 Enhancer 0.6 Ensembl 12.8 +20.7 20682 0.8 NCOR1 TAL1 MAX TCF12 NR2F6 DPF2 ARID1B CEBPB GABPB1 CBFA2T2 RAB6B C3orf36 piR-31199-236 SRPRB
GH03J133955 Enhancer 0.7 Ensembl CraniofacialAtlas 10.5 -60.2 -60219 1.4 JUND ATF2 NFIC ZBTB48 ZNF189 NFIB GLIS1 CREB1 CHD2 ATF7 SLCO2A1 C3orf36 RAB6B piR-55128 piR-57137-017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB6B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB6B

Top Transcription factor binding sites by QIAGEN in the RAB6B gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • FAC1
  • GR
  • GR-alpha
  • GR-beta
  • Olf-1
  • p53

Genomic Locations for RAB6B Gene

Latest Assembly
chr3:133,824,235-133,895,882
(GRCh38/hg38)
Size:
71,648 bases
Orientation:
Minus strand

Previous Assembly
chr3:133,543,079-133,614,726
(GRCh37/hg19 by Entrez Gene)
Size:
71,648 bases
Orientation:
Minus strand

chr3:133,543,083-133,614,680
(GRCh37/hg19 by Ensembl)
Size:
71,598 bases
Orientation:
Minus strand

Genomic View for RAB6B Gene

Genes around RAB6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB6B Gene

Proteins for RAB6B Gene

  • Protein details for RAB6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRW1-RAB6B_HUMAN
    Recommended name:
    Ras-related protein Rab-6B
    Protein Accession:
    Q9NRW1
    Secondary Accessions:
    • B2R5Z9
    • B7Z337
    • D3DND3
    • Q92929

    Protein attributes for RAB6B Gene

    Size:
    208 amino acids
    Molecular mass:
    23462 Da
    Quaternary structure:
    • Interacts with BICDL1/BICDR1; leads to its accumulation in the pericentrosomal region (By similarity). Interacts with RAB6KIFL. Interacts (GTP-bound) with BICD1 (via C-terminus); the interaction is direct. Interacts (GDP-bound) with DYNLRB1. Interacts (GTP-bound) with APBA1/MINT1 isoform 2, also called Mint1_826, but not with isoform 1.

    Three dimensional structures from OCA and Proteopedia for RAB6B Gene

    Alternative splice isoforms for RAB6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB6B Gene

Post-translational modifications for RAB6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB6B Gene

Domains & Families for RAB6B Gene

Gene Families for RAB6B Gene

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

Protein Domains for RAB6B Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB6B Gene

GenScript: Design optimal peptide antigens:
  • RAB6B protein (Q6AZ91_HUMAN)
  • GTP-binding protein RAB6B (Q9UL29_HUMAN)
  • Ras-related protein Rab-6B (RAB6B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRW1

UniProtKB/Swiss-Prot:

RAB6B_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 RAB6B: view

Function for RAB6B Gene

Molecular function for RAB6B Gene

UniProtKB/Swiss-Prot Function:
Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells.

Phenotypes From GWAS Catalog for RAB6B Gene

Gene Ontology (GO) - Molecular Function for RAB6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,NAS 10893188
GO:0005515 protein binding IPI 23737971
GO:0005525 GTP binding IEA --
GO:0031489 myosin V binding IPI 24006491
genes like me logo Genes that share ontologies with RAB6B: view
genes like me logo Genes that share phenotypes with RAB6B: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RAB6B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB6B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB6B Gene

Localization for RAB6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB6B Gene

Golgi apparatus membrane. Lipid-anchor. Endoplasmic reticulum-Golgi intermediate compartment. Cytoplasmic vesicle. Note=Colocalizes with BICD1 at vesicular structures that align along microtubules. {ECO:0000269 PubMed:17707369}.

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 RAB6B gene
Compartment Confidence
cytosol 4
golgi apparatus 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IBA,NAS 10893188
GO:0005829 cytosol IEA --
GO:0012505 endomembrane system IBA 21873635
genes like me logo Genes that share ontologies with RAB6B: view

Pathways & Interactions for RAB6B Gene

genes like me logo Genes that share pathways with RAB6B: view

Pathways by source for RAB6B Gene

1 Qiagen pathway for RAB6B Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA,NAS 10893188
GO:0006891 intra-Golgi vesicle-mediated transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with RAB6B: view

No data available for SIGNOR curated interactions for RAB6B Gene

Drugs & Compounds for RAB6B Gene

No Compound Related Data Available

Transcripts for RAB6B Gene

mRNA/cDNA for RAB6B Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 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 RAB6B

Alternative Splicing Database (ASD) splice patterns (SP) for RAB6B Gene

No ASD Table

Relevant External Links for RAB6B Gene

GeneLoc Exon Structure for
RAB6B

Expression for RAB6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB6B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB6B Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.1), Brain - Anterior cingulate cortex (BA24) (x6.4), and Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for RAB6B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.7), Platelet (11.3), Brain (8.5), and Frontal cortex (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB6B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB6B

SOURCE GeneReport for Unigene cluster for RAB6B Gene:

Hs.715344

mRNA Expression by UniProt/SwissProt for RAB6B Gene:

Q9NRW1-RAB6B_HUMAN
Tissue specificity: Predominantly expressed in brain.

Evidence on tissue expression from TISSUES for RAB6B Gene

  • Nervous system(5)
  • Skin(4.2)
  • Eye(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with RAB6B: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB6B Gene

Orthologs for RAB6B Gene

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

Orthologs for RAB6B Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia RAB6B 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia RAB6B 29
  • 99.46 (n)
Cow
(Bos Taurus)
Mammalia RAB6B 29 30
  • 94.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB6B 29 30
  • 93.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab6b 29
  • 92.95 (n)
Mouse
(Mus musculus)
Mammalia Rab6b 29 16 30
  • 92.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB6B 30
  • 92 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 80 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 87 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab6b 29
  • 79.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab6ba 30
  • 96 (a)
OneToMany
rab6bb 30
  • 90 (a)
OneToMany
rab6b 29
  • 79.33 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3014 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rab6 30 31
  • 84 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rab-6.2 30
  • 82 (a)
OneToMany
C56E6.2 31
  • 37 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR257C 29
  • 60.07 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20471g 29
  • 58.88 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT6 29 30 32
  • 58.54 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10389 30
  • 86 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU05234 29
  • 64.72 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ryh1 29
  • 62.46 (n)
Species where no ortholog for RAB6B was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)

Evolution for RAB6B Gene

ENSEMBL:
Gene Tree for RAB6B (if available)
TreeFam:
Gene Tree for RAB6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB6B: view image
Alliance of Genome Resources:
Additional Orthologs for RAB6B

Paralogs for RAB6B Gene

genes like me logo Genes that share paralogs with RAB6B: view

Variants for RAB6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB6B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs201173392 Benign: not provided 133,839,583(-) G/A
NM_016577.4(RAB6B):c.324C>T (p.Ile108=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB6B 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 RAB6B Gene

Variant ID Type Subtype PubMed ID
esv3413841 CNV duplication 20981092
esv3569012 CNV loss 25503493
nsv829729 CNV loss 17160897
nsv955349 CNV deletion 24416366

Variation tolerance for RAB6B Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB6B
Leiden Open Variation Database (LOVD)
RAB6B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB6B Gene

Disorders for RAB6B Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB6B Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search RAB6B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB6B

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 RAB6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB6B Gene

Publications for RAB6B Gene

  1. The small GTPase Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus. (PMID: 10893188) Opdam FJ … Fransen JA (Journal of cell science 2000) 3 4 22
  2. A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6. (PMID: 23737971) Thyrock A … Barnekow A (PloS one 2013) 3 4
  3. 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
  4. Rab6 family proteins interact with the dynein light chain protein DYNLRB1. (PMID: 18044744) Wanschers B … Fransen J (Cell motility and the cytoskeleton 2008) 3 4
  5. A role for the Rab6B Bicaudal-D1 interaction in retrograde transport in neuronal cells. (PMID: 17707369) Wanschers BF … Fransen JA (Experimental cell research 2007) 3 4

Products for RAB6B Gene

Sources for RAB6B Gene