PHETA2 (PH domain containing endocytic trafficking adaptor 2)

2018-11-01  

Identity

HGNC
PHETA2
LOCATION
22q13.2
LOCUSID
150368
ALIAS
FAM109B,IPIP27B,Ses2

Other Information

Locus ID:

NCBI: 150368
MIM: 614240
HGNC: 27161
Ensembl: ENSG00000177096

Variants:

dbSNP: 150368
ClinVar: 150368
TCGA: ENSG00000177096
COSMIC: PHETA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177096ENST00000321753Q6ICB4
ENSG00000177096ENST00000419475B1AHR3

References

Pubmed IDYearTitleCitations
321520892020Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.4
321520892020Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.4
212332882011The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.38
212332882011The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.38
201336022010Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.35
201336022010Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.35

Citation

Dessen P

PHETA2 (PH domain containing endocytic trafficking adaptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80323/pheta2-(ph-domain-containing-endocytic-trafficking-adaptor-2)