EHD2 (EH domain containing 2)

2012-12-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
PAST2
FUSION GENES

Other Information

Locus ID:

NCBI: 30846
MIM: 605890
HGNC: 3243
Ensembl: ENSG00000024422

Variants:

dbSNP: 30846
ClinVar: 30846
TCGA: ENSG00000024422
COSMIC: EHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000024422ENST00000263277Q9NZN4
ENSG00000024422ENST00000263277A0A024R0S6
ENSG00000024422ENST00000538399Q9NZN4
ENSG00000024422ENST00000596225M0R1B9

Expression (GTEx)

0
50
100
150
200
250
300
350
400

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

References

Pubmed IDYearTitleCitations
223232872012EHD2 regulates caveolar dynamics via ATP-driven targeting and oligomerization.59
225050292012Oligomers of the ATPase EHD2 confine caveolae to the plasma membrane through association with actin.50
204891642010EH domain proteins regulate cardiac membrane protein targeting.41
226799232012Sarcolemmal repair is a slow process and includes EHD2.26
217562492011EHD2 mediates trafficking from the plasma membrane by modulating Rac1 activity.11
240402682013Role of phosphatidylinositol 4,5-bisphosphate in regulating EHD2 plasma membrane localization.11
303487492018EHD2 is a mechanotransducer connecting caveolae dynamics with gene transcription.10
224489062012EHD2 shuttles to the nucleus and represses transcription.9
255577912015Role of EHD2 in migration and invasion of human breast cancer cells.7
257581272015Decreased expression and prognostic role of EHD2 in human breast carcinoma: correlation with E-cadherin.7

Citation

Dessen P

EHD2 (EH domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53067/ehd2-(eh-domain-containing-2)