EHD3 (EH domain containing 3)

2014-06-01  

Identity

HGNC
EHD3
LOCATION
2p23.1
LOCUSID
30845
ALIAS
PAST3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30845
MIM: 605891
HGNC: 3244
Ensembl: ENSG00000013016

Variants:

dbSNP: 30845
ClinVar: 30845
TCGA: ENSG00000013016
COSMIC: EHD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013016ENST00000322054Q9NZN3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

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
162513582006Interactions between EHD proteins and Rab11-FIP2: a role for EHD3 in early endosomal transport.98
175076472007Myosin Vb interacts with Rab8a on a tubular network containing EHD1 and EHD3.87
191390872009EHD3 regulates early-endosome-to-Golgi transport and preserves Golgi morphology.47
204891642010EH domain proteins regulate cardiac membrane protein targeting.41
121214202002EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1.36
240195282013Differential roles of C-terminal Eps15 homology domain proteins as vesiculators and tubulators of recycling endosomes.27
224061952012Differential regulation of EHD3 in human and mammalian heart failure.23
243060262014Ehd3, a regulator of vesicular trafficking, is silenced in gliomas and functions as a tumor suppressor by controlling cell cycle arrest and apoptosis.8
271899422016EHD3 Protein Is Required for Tubular Recycling Endosome Stabilization, and an Asparagine-Glutamic Acid Residue Pair within Its Eps15 Homology (EH) Domain Dictates Its Selective Binding to NPF Peptides.7
223377032012A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.4

Citation

Dessen P

EHD3 (EH domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53932/ehd3-(eh-domain-containing-3)