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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DENND1B
DENN domain containing 1B
Chromosome 1 · 1q31.3
NCBI Gene: 163486Ensembl: ENSG00000213047.14HGNC: HGNC:28404UniProt: Q6P3S1
33PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolguanyl-nucleotide exchange factor activityT cell receptor signaling pathwaypositive regulation of T-helper 2 cell cytokine productionpsoriasismacular degenerationdegeneration of macula and posterior polemajor depressive disorder
✦AI Summary

DENND1B is a guanine nucleotide exchange factor (GEF) that activates RAB35 by promoting GDP-to-GTP exchange, converting it to its active form 1. In T helper 2 (TH2) cells, DENND1B regulates T-cell receptor (TCR) internalization through clathrin-mediated endocytosis via interaction with adapter protein complex 2 (AP-2), controlling the rate of TCR downmodulation and routing to endosomes 1. This process critically regulates cytokine production in TH2 lymphocytes 1. Beyond immune regulation, DENND1B localizes to cilia where it controls cilium length, function, and membrane composition through RAB35 regulation 2. DENND1B variants are strongly associated with asthma development; loss of DENND1B function results in delayed TCR downmodulation, enhanced TCR signaling, and increased effector cytokine production in TH2 cells, phenotypically consistent with hyper-allergic responses 1. Genome-wide association studies confirm DENND1B polymorphisms significantly associate with asthma, atopy markers, and severe asthma in diverse populations 3. Additionally, DENND1B variants link to obesity through melanocortin 4 receptor signaling and energy homeostasis regulation 4, and to narcolepsy type 1 through T-cell autoimmunity pathways 5. DENND1B also influences susceptibility to chr1 cavitary pulmonary aspergillosis 6.

Sources cited
1
DENND1B is a GEF for RAB35; regulates TCR internalization via AP-2 interaction in TH2 cells; loss-of-function causes delayed TCR downmodulation and increased cytokine production
PMID: 26774822
2
DENND1B localizes to cilia and regulates cilium length, function, and membrane composition through RAB35 activation
PMID: 31432619
3
DENND1B polymorphisms associated with asthma, severe asthma, and atopy markers in Brazilian children
PMID: 28668455
4
DENND1B variants associated with obesity; role in melanocortin 4 receptor signaling and energy homeostasis
PMID: 40048553
5
DENND1B identified as novel narcolepsy type 1 risk locus linked to T-cell autoimmunity
PMID: 37188663
6
DENND1B polymorphisms associated with susceptibility to chronic cavitary pulmonary aspergillosis
PMID: 24712925
7
rs2786098 SNP regulating DENND1B shows strong asthma association in isolated populations
PMID: 31608842
8
DENND1B contains GEF domain for RAB35 activation; localizes to novel cellular structures involved in cell migration
PMID: 33135087
Disease Associationsⓘ21
psoriasisOpen Targets
0.50Moderate
macular degenerationOpen Targets
0.50Moderate
degeneration of macula and posterior poleOpen Targets
0.49Moderate
major depressive disorderOpen Targets
0.48Moderate
inflammatory bowel diseaseOpen Targets
0.48Moderate
primary biliary cirrhosisOpen Targets
0.47Moderate
retinopathyOpen Targets
0.43Moderate
Crohn's diseaseOpen Targets
0.41Moderate
autoimmune diseaseOpen Targets
0.39Weak
psoriasis vulgarisOpen Targets
0.39Weak
asthmaOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.36Weak
AnxietyOpen Targets
0.35Weak
age-related macular degenerationOpen Targets
0.34Weak
smoking initiationOpen Targets
0.32Weak
neurotic disorderOpen Targets
0.31Weak
exostosisOpen Targets
0.31Weak
smoking cessationOpen Targets
0.31Weak
ulcerative colitisOpen Targets
0.31Weak
ankylosing spondylitisOpen Targets
0.31Weak
AsthmaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB35Protein interaction100%DENND1AProtein interaction75%LHX9Protein interaction72%DENND1CShared pathway40%MYO1DShared pathway29%CD8BShared pathway22%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
97%
Liver
36%
Lung
32%
Ovary
25%
Brain
16%
Gene Interaction Network
Click a node to explore
DENND1BRAB35DENND1ALHX9DENND1CMYO1DCD8B
PROTEIN STRUCTURE
Preparing viewer…
PDB3TW8 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.44–0.80]
RankingsWhere DENND1B stands among ~20K protein-coding genes
  • #11,321of 20,598
    Most Researched33
  • #6,636of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedDENND1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Canine genome-wide association study identifies
PMID: 40048553
Science · 2025
1.00
2
Polymorphisms in DENND1B gene are associated with asthma and atopy phenotypes in Brazilian children.
PMID: 28668455
Mol Immunol · 2017
0.90
3
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
PMID: 37188663
Nat Commun · 2023
0.80
4
Reduced expression of TLR3, TLR10 and TREM1 by human macrophages in Chronic cavitary pulmonary aspergillosis, and novel associations of VEGFA, DENND1B and PLAT.
PMID: 24712925
Clin Microbiol Infect · 2014
0.70
5
In focus in HCB.
PMID: 33469707
Histochem Cell Biol · 2021
0.60