This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ... See more...

Aliases for DENND2B Gene

Aliases for DENND2B Gene

  • DENN Domain Containing 2B 2 3 5
  • HTS1 2 3 4
  • Suppression Of Tumorigenicity 5 Protein 3 4
  • DENN Domain-Containing Protein 2B 3 4
  • DENN/MADD Domain Containing 2B 2 3
  • HeLa Tumor Suppression 1 3 4
  • P126 2 3
  • ST5 3 4
  • Suppression Of Tumorigenicity 5 2
  • HeLa Tumor Suppression 2
  • DENND2B 5

External Ids for DENND2B Gene

Previous HGNC Symbols for DENND2B Gene

  • ST5

Summaries for DENND2B Gene

Entrez Gene Summary for DENND2B Gene

  • This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for DENND2B Gene

DENND2B (DENN Domain Containing 2B) is a Protein Coding gene. Diseases associated with DENND2B include Charcot-Marie-Tooth Disease, Axonal, Type 2W and Meningococcal Meningitis. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. An important paralog of this gene is DENND2A.

UniProtKB/Swiss-Prot Summary for DENND2B Gene

  • [Isoform 1]: May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane (PubMed:29030480).
  • [Isoform 2]: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
  • [Isoform 3]: May block ERK2 activation stimulated by ABL1 (Probable). May alter cell morphology and cell growth (Probable).

Gene Wiki entry for DENND2B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DENND2B Gene

Genomics for DENND2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DENND2B 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 DENND2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND2B

Genomic Locations for DENND2B Gene

Latest Assembly
chr11:8,693,351-8,910,951
(GRCh38/hg38)
Size:
217,601 bases
Orientation:
Minus strand

Previous Assembly
chr11:8,714,899-8,932,498
(GRCh37/hg19 by Entrez Gene)
Size:
217,600 bases
Orientation:
Minus strand

chr11:8,714,898-8,932,498
(GRCh37/hg19 by Ensembl)
Size:
217,601 bases
Orientation:
Minus strand

Genomic View for DENND2B Gene

Genes around DENND2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DENND2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DENND2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DENND2B Gene

Proteins for DENND2B Gene

  • Protein details for DENND2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78524-DEN2B_HUMAN
    Recommended name:
    DENN domain-containing protein 2B
    Protein Accession:
    P78524
    Secondary Accessions:
    • B2R6X7
    • B3KXQ6
    • P78523
    • Q16492
    • Q7KYY2
    • Q7KZ12
    • Q8NE12
    • Q9BQQ6

    Protein attributes for DENND2B Gene

    Size:
    1137 amino acids
    Molecular mass:
    126485 Da
    Quaternary structure:
    • Interacts with ITSN1 and GRB2 (PubMed:29030480). Isoform 1 interacts with the SH3 domain of ABL1.
    SequenceCaution:
    • Sequence=AAC50925.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Produced by alternative promoter usage.
    • [Isoform 2]: Produced by alternative splicing of isoform 1.
    • [Isoform 3]: Produced by alternative promoter usage.

    Alternative splice isoforms for DENND2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DENND2B Gene

Post-translational modifications for DENND2B Gene

No data available for DME Specific Peptides for DENND2B Gene

Domains & Families for DENND2B Gene

Gene Families for DENND2B Gene

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

Protein Domains for DENND2B Gene

Suggested Antigen Peptide Sequences for DENND2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55510, highly similar to Suppression of tumorigenicity 5 (B4DDL8_HUMAN)
  • cDNA FLJ55800, highly similar to Suppression of tumorigenicity 5 (B4DZA9_HUMAN)
  • HeLa tumor suppression 1 (ST5_HUMAN)
genes like me logo Genes that share domains with DENND2B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DENND2B Gene

Function for DENND2B Gene

Molecular function for DENND2B Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane (PubMed:29030480).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.
UniProtKB/Swiss-Prot Function:
[Isoform 3]: May block ERK2 activation stimulated by ABL1 (Probable). May alter cell morphology and cell growth (Probable).

Phenotypes From GWAS Catalog for DENND2B Gene

Gene Ontology (GO) - Molecular Function for DENND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 20937701
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with DENND2B: view
genes like me logo Genes that share phenotypes with DENND2B: view

miRNA for DENND2B Gene

miRTarBase miRNAs that target DENND2B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND2B

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DENND2B Gene

Localization for DENND2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DENND2B Gene

[Isoform 1]: Cytoplasm, cell cortex. Cell membrane. Recycling endosome. Note=Colocalizes with RAB13 and ITSN1 at cytoplasmic vesicles that are most likely recycling endosomes. Colocalizes with the cortical actin cytoskeleton. {ECO:0000269 PubMed:29030480}.

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 DENND2B gene
Compartment Confidence
plasma membrane 4
nucleus 4
endosome 3
cytoskeleton 2
mitochondrion 2
cytosol 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DENND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IEA --
GO:0005938 cell cortex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DENND2B: view

Pathways & Interactions for DENND2B Gene

genes like me logo Genes that share pathways with DENND2B: view

Pathways by source for DENND2B Gene

Interacting Proteins for DENND2B Gene

Gene Ontology (GO) - Biological Process for DENND2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity IEA --
GO:0070374 positive regulation of ERK1 and ERK2 cascade IBA 21873635
genes like me logo Genes that share ontologies with DENND2B: view

No data available for SIGNOR curated interactions for DENND2B Gene

Drugs & Compounds for DENND2B Gene

No Compound Related Data Available

Transcripts for DENND2B Gene

mRNA/cDNA for DENND2B Gene

15 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
61 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 DENND2B

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for DENND2B Gene

No ASD Table

Relevant External Links for DENND2B Gene

GeneLoc Exon Structure for
DENND2B

Expression for DENND2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DENND2B

SOURCE GeneReport for Unigene cluster for DENND2B Gene:

Hs.117715

mRNA Expression by UniProt/SwissProt for DENND2B Gene:

P78524-DEN2B_HUMAN
Tissue specificity: Widely expressed with the exception of peripheral blood lymphocytes. Isoform 1 is expressed in several epithelial and fibroblast (including tumorigenic) but absent in lymphoid cell lines (at protein level). Isoform 3 is expressed in primary cell or weakly tumorigenic but not in tumorigenic cell lines (at protein level).

Evidence on tissue expression from TISSUES for DENND2B Gene

  • Nervous system(4.9)
  • Spleen(4.4)
  • Liver(4.3)
  • Lung(2.5)
  • Skin(2.4)
  • Muscle(2)

Primer products for research

No data available for mRNA expression in normal human tissues , 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND2B Gene

Orthologs for DENND2B Gene

This gene was present in the common ancestor of chordates.

Orthologs for DENND2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ST5 29 30
  • 99.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ST5 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ST5 29 30
  • 92.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ST5 29 30
  • 92.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia St5 29 30
  • 89.95 (n)
OneToOne
Denn2b 16
Rat
(Rattus norvegicus)
Mammalia St5 29
  • 89.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia ST5 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ST5 29 30
  • 74.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ST5 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st5 29
  • 72.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1916 29
Zebrafish
(Danio rerio)
Actinopterygii st5 29 30
  • 67.53 (n)
OneToOne
Dr.16306 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8836 29
Species where no ortholog for DENND2B 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DENND2B Gene

ENSEMBL:
Gene Tree for DENND2B (if available)
TreeFam:
Gene Tree for DENND2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DENND2B: view image
Alliance of Genome Resources:
Additional Orthologs for DENND2B

Paralogs for DENND2B Gene

Paralogs for DENND2B Gene

genes like me logo Genes that share paralogs with DENND2B: view

Variants for DENND2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND2B Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs149402828 Benign: not provided 8,707,189(-) C/T
NM_213618.2(DENND2B):c.2467G>A (p.Ala823Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1592609521 Uncertain Significance: not provided 8,715,650(-) T/A
NM_213618.2(DENND2B):c.1798A>T (p.Thr600Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs182856766 Benign: not provided 8,731,213(-) G/T
NM_213618.2(DENND2B):c.81-4C>A
INTRON
rs200023000 Uncertain Significance: not specified 8,730,355(-) C/T
NM_213618.2(DENND2B):c.935G>A (p.Arg312Gln)
MISSENSE_VARIANT,INTRON
rs200801002 Benign: not provided 8,730,030(-) A/G
NM_213618.2(DENND2B):c.1260T>C (p.Pro420=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DENND2B 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 DENND2B Gene

Variant ID Type Subtype PubMed ID
esv1699885 CNV deletion 17803354
esv2669920 CNV deletion 23128226
esv2744087 CNV deletion 23290073
esv2744088 CNV deletion 23290073
esv2744089 CNV deletion 23290073
esv2759803 CNV gain 17122850
esv3547293 CNV deletion 23714750
nsv1069559 CNV deletion 25765185
nsv1120084 OTHER inversion 24896259
nsv1134089 CNV deletion 24896259
nsv435923 CNV deletion 17901297
nsv478661 CNV novel sequence insertion 20440878
nsv499766 OTHER inversion 21111241
nsv509388 CNV insertion 20534489
nsv513308 CNV insertion 21212237
nsv527073 CNV loss 19592680
nsv527920 CNV loss 19592680
nsv553447 CNV loss 21841781
nsv7215 OTHER inversion 18451855
nsv7664 CNV insertion 18451855
nsv7665 CNV insertion 18451855
nsv7666 CNV insertion 18451855
nsv832062 CNV loss 17160897
nsv951306 CNV deletion 24416366

Variation tolerance for DENND2B Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.01; 95.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DENND2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DENND2B
Leiden Open Variation Database (LOVD)
DENND2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND2B Gene

Disorders for DENND2B Gene

MalaCards: The human disease database

(8) MalaCards diseases for DENND2B Gene - From: COP

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2w
  • cmt2w
meningococcal meningitis
  • meningitis, meningococcal
campylobacteriosis
  • campylobacter infections
hypotrichosis 1
  • hypt1
oral candidiasis
  • candidiasis of mouth
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DENND2B

genes like me logo Genes that share disorders with DENND2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DENND2B Gene

Publications for DENND2B Gene

  1. Activation of extracellular signal-regulated kinase 2 by a novel Abl-binding protein, ST5. (PMID: 9632734) Majidi M … Lichy JH (The Journal of biological chemistry 1998) 2 3 4 22
  2. Differential expression of the human ST5 gene in HeLa-fibroblast hybrid cell lines mediated by YY1: evidence that YY1 plays a part in tumor suppression. (PMID: 8972856) Lichy JH … Tsai MM (Nucleic acids research 1996) 3 4 22
  3. Identification of a human chromosome 11 gene which is differentially regulated in tumorigenic and nontumorigenic somatic cell hybrids of HeLa cells. (PMID: 1390339) Lichy JH … Howley PM (Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research 1992) 2 3 4
  4. Intersectin-s interaction with DENND2B facilitates recycling of epidermal growth factor receptor. (PMID: 29030480) Ioannou MS … McPherson PS (EMBO reports 2017) 3 4
  5. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S … Barr FA (The Journal of cell biology 2010) 3 4

Products for DENND2B Gene

  • Boster Bio Antibodies for DENND2B
  • Boster Bio ELISA Kits for DENND2B

Sources for DENND2B Gene