DENND1B (DENN domain containing 1B)

2014-11-01  

Identity

HGNC
DENND1B
LOCATION
1q31.3
LOCUSID
163486
ALIAS
C1ORF18,C1orf218,FAM31B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163486
MIM: 613292
HGNC: 28404
Ensembl: ENSG00000213047

Variants:

dbSNP: 163486
ClinVar: 163486
TCGA: ENSG00000213047
COSMIC: DENND1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213047ENST00000235453Q6P3S1
ENSG00000213047ENST00000294737B3KR95
ENSG00000213047ENST00000367396Q6P3S1
ENSG00000213047ENST00000422998B7ZBL5
ENSG00000213047ENST00000620048Q6P3S1

Expression (GTEx)

0
1
2
3
4
5
6
7
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
200323182010Variants of DENND1B associated with asthma in children.133
229777322012Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.52
208161952010Analyses of shared genetic factors between asthma and obesity in children.43
220657582011Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate.39
267748222016Regulation of T Cell Receptor Signaling by DENND1B in TH2 Cells and Allergic Disease.14
260557122015Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors.5
286684552017Polymorphisms in DENND1B gene are associated with asthma and atopy phenotypes in Brazilian children.2
243475602015DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates.1
316088422019Variation at DENND1B and Asthma on the Island of Tristan da Cunha.0

Citation

Dessen P

DENND1B (DENN domain containing 1B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62427/dennd1b