DENND3 (DENN domain containing 3)

2014-11-01  

Identity

HGNC
DENND3
LOCATION
8q24.3
LOCUSID
22898
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22898
MIM: 617503
HGNC: 29134
Ensembl: ENSG00000105339

Variants:

dbSNP: 22898
ClinVar: 22898
TCGA: ENSG00000105339
COSMIC: DENND3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105339ENST00000262585A2RUS2
ENSG00000105339ENST00000424248A2RUS2
ENSG00000105339ENST00000517985H0YBH5
ENSG00000105339ENST00000518198E5RH95
ENSG00000105339ENST00000518249H0YAW2
ENSG00000105339ENST00000518347E5RIR7
ENSG00000105339ENST00000518668H0YAY3
ENSG00000105339ENST00000519291E5RJ42
ENSG00000105339ENST00000519811E9PF32
ENSG00000105339ENST00000520725H0YBK9
ENSG00000105339ENST00000520986E5RHH2
ENSG00000105339ENST00000523058E5RI43
ENSG00000105339ENST00000523308B3KRG7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
367292832023DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.1
367292832023DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.1
293521042018A PH-like domain of the Rab12 guanine nucleotide exchange factor DENND3 binds actin and is required for autophagy.9
293521042018A PH-like domain of the Rab12 guanine nucleotide exchange factor DENND3 binds actin and is required for autophagy.9
282499392017Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction.7
282499392017Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction.7
259256682015Phosphorylation of the exchange factor DENND3 by ULK in response to starvation activates Rab12 and induces autophagy.37
259256682015Phosphorylation of the exchange factor DENND3 by ULK in response to starvation activates Rab12 and induces autophagy.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

DENND3 (DENN domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62431/dennd3-(denn-domain-containing-3)