DENND5A (DENN domain containing 5A)

2014-11-01  

Identity

HGNC
DENND5A
LOCATION
11p15.4
LOCUSID
23258
ALIAS
DEE49,EIEE49,RAB6IP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23258
MIM: 617278
HGNC: 19344
Ensembl: ENSG00000184014

Variants:

dbSNP: 23258
ClinVar: 23258
TCGA: ENSG00000184014
COSMIC: DENND5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184014ENST00000328194Q6IQ26
ENSG00000184014ENST00000524446H0YCW5
ENSG00000184014ENST00000525784H0YDE6
ENSG00000184014ENST00000526707B4DFB6
ENSG00000184014ENST00000527896H0YDV6
ENSG00000184014ENST00000528725H0YDS8
ENSG00000184014ENST00000530044Q6IQ26
ENSG00000184014ENST00000530780E9PIS3
ENSG00000184014ENST00000531747H0YE63
ENSG00000184014ENST00000533737H0YEA8

Expression (GTEx)

0
50
100
150
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
esophagus
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
191412792009Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain.42
278667052016Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.7
225581852012Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1.2

Citation

Dessen P

DENND5A (DENN domain containing 5A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62433/dennd5a