PLEKHB1 (pleckstrin homology domain containing B1)

2014-11-01  

Identity

HGNC
PLEKHB1
LOCATION
11q13.4
LOCUSID
58473
ALIAS
KPL1,PHR1,PHRET1
FUSION GENES
Show Gene Fusions

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
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

References

Pubmed IDYearTitleCitations
263181752015In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1).1
263181752015In vitro interaction between coxsackievirus B3 VP1 protein and human pleckstrin homology domain retinal protein (PHR1).1
248408022014Wallerian degeneration: an emerging axon death pathway linking injury and disease.267
248408022014Wallerian degeneration: an emerging axon death pathway linking injury and disease.267
203089902011Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.61
203089902011Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.61
203012002010PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.1
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203012002010PHR1 is a vesicle-bound protein abundantly expressed in mature olfactory neurons.1
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

PLEKHB1 (pleckstrin homology domain containing B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71974/js/css/template-nav.css