Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006] See more...

Aliases for RAB2B Gene

Aliases for RAB2B Gene

  • RAB2B, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-2B 3 4
  • GTP-Binding Protein RAB2B 3
  • RAS Family, Member RAB2B 3
  • FLJ14824 2
  • RAB2B 5

External Ids for RAB2B Gene

Previous GeneCards Identifiers for RAB2B Gene

  • GC14M015714
  • GC14M019917
  • GC14M020997
  • GC14M021927
  • GC14M002046

Summaries for RAB2B Gene

Entrez Gene Summary for RAB2B Gene

  • Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]

GeneCards Summary for RAB2B Gene

RAB2B (RAB2B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB2B include Carpenter Syndrome 1. 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 RAB2A.

UniProtKB/Swiss-Prot Summary for RAB2B Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB2B Gene

Genomics for RAB2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB2B 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 RAB2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB2B

Top Transcription factor binding sites by QIAGEN in the RAB2B gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • CREB
  • CUTL1
  • deltaCREB
  • E47
  • Ik-1
  • Tal-1

Genomic Locations for RAB2B Gene

Latest Assembly
chr14:21,459,020-21,476,960
(GRCh38/hg38)
Size:
17,941 bases
Orientation:
Minus strand

Previous Assembly
chr14:21,927,179-21,945,118
(GRCh37/hg19 by Entrez Gene)
Size:
17,940 bases
Orientation:
Minus strand

chr14:21,927,179-21,945,132
(GRCh37/hg19 by Ensembl)
Size:
17,954 bases
Orientation:
Minus strand

Genomic View for RAB2B Gene

Genes around RAB2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB2B Gene

Proteins for RAB2B Gene

  • Protein details for RAB2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUD1-RAB2B_HUMAN
    Recommended name:
    Ras-related protein Rab-2B
    Protein Accession:
    Q8WUD1
    Secondary Accessions:
    • B2RD03
    • D3DS24
    • Q6NZ33

    Protein attributes for RAB2B Gene

    Size:
    216 amino acids
    Molecular mass:
    24214 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB2B Gene

    Alternative splice isoforms for RAB2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB2B Gene

Post-translational modifications for RAB2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB2B Gene

Antibodies for research

  • Abcam antibodies for RAB2B

No data available for DME Specific Peptides for RAB2B Gene

Domains & Families for RAB2B Gene

Gene Families for RAB2B Gene

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

Protein Domains for RAB2B Gene

Suggested Antigen Peptide Sequences for RAB2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55078, highly similar to Ras-related protein Rab-2B (Q6NZ33_HUMAN)
  • GTP-binding protein RAB2B (Q9UL31_HUMAN)
  • Ras-related protein Rab-2B (RAB2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUD1

UniProtKB/Swiss-Prot:

RAB2B_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 RAB2B: view

Function for RAB2B Gene

Molecular function for RAB2B Gene

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

Phenotypes From GWAS Catalog for RAB2B Gene

Gene Ontology (GO) - Molecular Function for RAB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB2B: view
genes like me logo Genes that share phenotypes with RAB2B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB2B Gene

Localization for RAB2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB2B Gene

Cell membrane. Lipid-anchor. Cytoplasmic side. Endoplasmic reticulum membrane. Golgi apparatus membrane.

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 RAB2B gene
Compartment Confidence
plasma membrane 4
extracellular 4
golgi apparatus 4
cytosol 3
nucleus 2
endosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RAB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with RAB2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB2B Gene

Pathways & Interactions for RAB2B Gene

genes like me logo Genes that share pathways with RAB2B: view

Pathways by source for RAB2B Gene

1 Sino Biological pathway for RAB2B Gene
1 Qiagen pathway for RAB2B Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0045921 positive regulation of exocytosis IMP 19966785
genes like me logo Genes that share ontologies with RAB2B: view

No data available for SIGNOR curated interactions for RAB2B Gene

Drugs & Compounds for RAB2B Gene

No Compound Related Data Available

Transcripts for RAB2B Gene

mRNA/cDNA for RAB2B Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 RAB2B

Alternative Splicing Database (ASD) splice patterns (SP) for RAB2B Gene

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

Relevant External Links for RAB2B Gene

GeneLoc Exon Structure for
RAB2B

Expression for RAB2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB2B Gene

This gene is overexpressed in Brain (23.5) and Fetal Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB2B Gene



Protein tissue co-expression partners for RAB2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB2B

SOURCE GeneReport for Unigene cluster for RAB2B Gene:

Hs.22399

mRNA Expression by UniProt/SwissProt for RAB2B Gene:

Q8WUD1-RAB2B_HUMAN
Tissue specificity: Expressed in kidney, prostate, lung, liver, thymus, colon, pancreas, and skeletal muscle, and low levels in placenta. Not detected in heart, brain, spleen, testis, ovary, small intestine and leukocyte.

Evidence on tissue expression from TISSUES for RAB2B Gene

  • Nervous system(4.7)
  • Skin(4.4)
genes like me logo Genes that share expression patterns with RAB2B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB2B Gene

Orthologs for RAB2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB2B 29 30
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB2B 29 30
  • 94.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB2B 29 30
  • 93.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB2B 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab2b 29
  • 91.47 (n)
Mouse
(Mus musculus)
Mammalia Rab2b 29 16 30
  • 91.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB2B 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 49 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia RAB2B 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab2b 29
  • 74.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2749 29
Zebrafish
(Danio rerio)
Actinopterygii rab11al 30
  • 46 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rab2 30
  • 83 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-108 30
  • 86 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT31 30
  • 41 (a)
ManyToMany
YPT32 30
  • 39 (a)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os04g0470100 29
  • 68.28 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.5672 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
ManyToMany
Species where no ortholog for RAB2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 RAB2B Gene

ENSEMBL:
Gene Tree for RAB2B (if available)
TreeFam:
Gene Tree for RAB2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB2B: view image
Alliance of Genome Resources:
Additional Orthologs for RAB2B

Paralogs for RAB2B Gene

genes like me logo Genes that share paralogs with RAB2B: view

Variants for RAB2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB2B Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs17106411 -- p.Asn212Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB2B 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 RAB2B Gene

Variant ID Type Subtype PubMed ID
esv2422459 CNV duplication 17116639
esv3633716 CNV gain 21293372

Variation tolerance for RAB2B Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB2B
Leiden Open Variation Database (LOVD)
RAB2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB2B Gene

Disorders for RAB2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAB2B Gene - From: COP

Disorder Aliases PubMed IDs
carpenter syndrome 1
  • crpt1
- elite association - COSMIC cancer census association via MalaCards
Search RAB2B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB2B

genes like me logo Genes that share disorders with RAB2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB2B Gene

Publications for RAB2B Gene

  1. Molecular cloning and characterization of a novel human Rab ( Rab2B) gene. (PMID: 12376746) Ni X … Mao Y (Journal of human genetics 2002) 2 3 4 22
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Unbiased Profiling of the Human Proinsulin Biosynthetic Interaction Network Reveals a Role for Peroxiredoxin 4 in Proinsulin Folding. (PMID: 32457219) Tran DT … Itkin-Ansari P (Diabetes 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RAB2B Gene

Sources for RAB2B Gene