PLEKHB1 (pleckstrin homology domain containing B1)

2014-11-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
KPL1,PHR1,PHRET1
FUSION GENES

Other Information

Locus ID:

NCBI: 58473
MIM: 607651
HGNC: 19079
Ensembl: ENSG00000021300

Variants:

dbSNP: 58473
ClinVar: 58473
TCGA: ENSG00000021300
COSMIC: PLEKHB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021300ENST00000227214Q9UF11
ENSG00000021300ENST00000227214A0A024R5H7
ENSG00000021300ENST00000354190Q9UF11
ENSG00000021300ENST00000354190A0A024R5H9
ENSG00000021300ENST00000398492Q9UF11
ENSG00000021300ENST00000398492A0A024R5J2
ENSG00000021300ENST00000398494Q9UF11
ENSG00000021300ENST00000535129Q9UF11
ENSG00000021300ENST00000535129A0A024R5H7
ENSG00000021300ENST00000535582F5H3M1
ENSG00000021300ENST00000536527F5GY96
ENSG00000021300ENST00000538227F5H1B8
ENSG00000021300ENST00000539157F5H0R6
ENSG00000021300ENST00000540431F5GZ38
ENSG00000021300ENST00000541597F5H866
ENSG00000021300ENST00000542389F5GY87
ENSG00000021300ENST00000543085F5GYU9
ENSG00000021300ENST00000543524F5GZH3
ENSG00000021300ENST00000545798F5H190
ENSG00000021300ENST00000546251F5H114

Expression (GTEx)

0
500
1000
1500
2000

References

Pubmed IDYearTitleCitations
248408022014Wallerian degeneration: an emerging axon death pathway linking injury and disease.143
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203089902011Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.47
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
203012002010PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.1
263181752015In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1).0

Citation

Dessen P

PLEKHB1 (pleckstrin homology domain containing B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71974/plekhb1