RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009] See more...

Aliases for RAB4B Gene

Aliases for RAB4B Gene

  • RAB4B, Member RAS Oncogene Family 2 3 5
  • Ras-Related GTP-Binding Protein 4b 2 3
  • Small GTP Binding Protein RAB4B 2 3
  • Ras-Related Protein Rab-4B 3 4
  • FLJ78649 2
  • MGC52123 2
  • RAB4B 5

External Ids for RAB4B Gene

Previous GeneCards Identifiers for RAB4B Gene

  • GC19P041923
  • GC19P041675
  • GC19P045960
  • GC19P045974
  • GC19P045977
  • GC19P045979
  • GC19P041284
  • GC19P037717

Summaries for RAB4B Gene

Entrez Gene Summary for RAB4B Gene

  • RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]

GeneCards Summary for RAB4B Gene

RAB4B (RAB4B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB4B include Progressive Familial Heart Block, Type Ii and Progressive Familial Heart Block. Among its related pathways are Signaling by GPCR and MET promotes cell motility. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB4B-EGLN2.

UniProtKB/Swiss-Prot Summary for RAB4B Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB4B Gene

Genomics for RAB4B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB4B 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 RAB4B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB4B

Top Transcription factor binding sites by QIAGEN in the RAB4B gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4

Genomic Locations for RAB4B Gene

Latest Assembly
chr19:40,778,216-40,796,942
(GRCh38/hg38)
Size:
18,727 bases
Orientation:
Plus strand

Previous Assembly
chr19:41,284,152-41,302,847
(GRCh37/hg19 by Entrez Gene)
Size:
18,696 bases
Orientation:
Plus strand

chr19:41,284,121-41,302,847
(GRCh37/hg19 by Ensembl)
Size:
18,727 bases
Orientation:
Plus strand

Genomic View for RAB4B Gene

Genes around RAB4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB4B Gene

Proteins for RAB4B Gene

  • Protein details for RAB4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61018-RAB4B_HUMAN
    Recommended name:
    Ras-related protein Rab-4B
    Protein Accession:
    P61018
    Secondary Accessions:
    • P22750
    • Q7Z514
    • Q9HBR6

    Protein attributes for RAB4B Gene

    Size:
    213 amino acids
    Molecular mass:
    23587 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB4B Gene

    Alternative splice isoforms for RAB4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB4B Gene

Post-translational modifications for RAB4B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB4B Gene

Antibodies for research

  • Abcam antibodies for RAB4B

No data available for DME Specific Peptides for RAB4B Gene

Domains & Families for RAB4B Gene

Gene Families for RAB4B Gene

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

Protein Domains for RAB4B Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • GTP-binding nuclear protein Ran
  • Ras small GTPase, Ras type
  • Ras small GTPase, Rho type

Suggested Antigen Peptide Sequences for RAB4B Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-4B (RAB4B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61018

UniProtKB/Swiss-Prot:

RAB4B_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 RAB4B: view

Function for RAB4B Gene

Molecular function for RAB4B Gene

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

Phenotypes From GWAS Catalog for RAB4B Gene

Gene Ontology (GO) - Molecular Function for RAB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003674 molecular_function ND --
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 RAB4B: view
genes like me logo Genes that share phenotypes with RAB4B: view

miRNA for RAB4B Gene

miRTarBase miRNAs that target RAB4B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB4B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB4B Gene

Localization for RAB4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB4B 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 RAB4B gene
Compartment Confidence
endosome 5
plasma membrane 4
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0030667 secretory granule membrane TAS --
genes like me logo Genes that share ontologies with RAB4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB4B Gene

Pathways & Interactions for RAB4B Gene

PathCards logo

SuperPathways for RAB4B Gene

genes like me logo Genes that share pathways with RAB4B: view

Pathways by source for RAB4B Gene

1 Sino Biological pathway for RAB4B Gene
4 GeneGo (Thomson Reuters) pathways for RAB4B Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
  • wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
1 Qiagen pathway for RAB4B Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0030100 regulation of endocytosis IBA 21873635
GO:0032482 Rab protein signal transduction IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0046323 glucose import IMP 19590752
genes like me logo Genes that share ontologies with RAB4B: view

No data available for SIGNOR curated interactions for RAB4B Gene

Drugs & Compounds for RAB4B Gene

No Compound Related Data Available

Transcripts for RAB4B Gene

mRNA/cDNA for RAB4B Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 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 RAB4B

Alternative Splicing Database (ASD) splice patterns (SP) for RAB4B Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - - -
SP2: -
SP3: - -
SP4:

Relevant External Links for RAB4B Gene

GeneLoc Exon Structure for
RAB4B

Expression for RAB4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB4B Gene

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for RAB4B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.8) and Brain (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB4B Gene



Protein tissue co-expression partners for RAB4B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB4B

SOURCE GeneReport for Unigene cluster for RAB4B Gene:

Hs.631539

Evidence on tissue expression from TISSUES for RAB4B Gene

  • Nervous system(4.9)
  • Lung(2.9)
  • Spleen(2.4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with RAB4B: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB4B Gene

Orthologs for RAB4B Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB4B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB4B 30
  • 100 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia RAB4B 29 30
  • 94.37 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia RAB4B 29
  • 92.8 (n)
-- 30
  • 77 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rab4b 29
  • 91.86 (n)
Mouse
(Mus musculus)
Mammalia Rab4b 29 16 30
  • 91.55 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 91 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 92 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab4b 29
  • 72.61 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab4b 29 30
  • 79.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004204 29
  • 71.12 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rab4 29 30 31
  • 67.93 (n)
OneToMany
Rab-RP4 31
  • 45 (a)
Worm
(Caenorhabditis elegans)
Secernentea F11A5.4 31
  • 52 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 69 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13157 29
Species where no ortholog for RAB4B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 RAB4B Gene

ENSEMBL:
Gene Tree for RAB4B (if available)
TreeFam:
Gene Tree for RAB4B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB4B: view image
Alliance of Genome Resources:
Additional Orthologs for RAB4B

Paralogs for RAB4B Gene

genes like me logo Genes that share paralogs with RAB4B: view

Variants for RAB4B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB4B 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 RAB4B Gene

Variant ID Type Subtype PubMed ID
esv26234 CNV loss 19812545
esv2758762 CNV gain+loss 17122850
nsv833832 CNV loss 17160897

Variation tolerance for RAB4B Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB4B
Leiden Open Variation Database (LOVD)
RAB4B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB4B Gene

Disorders for RAB4B Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB4B Gene - From: COP

Disorder Aliases PubMed IDs
progressive familial heart block, type ii
  • pfhb2
progressive familial heart block
  • familial lenegre disease
- elite association - COSMIC cancer census association via MalaCards
Search RAB4B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB4B

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 RAB4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB4B Gene

Publications for RAB4B Gene

  1. A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. (PMID: 22080838) Cho MH … COPDGene Investigators (Human molecular genetics 2012) 3 40
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RAB4B Gene

Sources for RAB4B Gene