PHLDB1 (pleckstrin homology like domain family B member 1)

2014-06-01  

Identity

HGNC
PHLDB1
LOCATION
11q23.3
LOCUSID
23187
ALIAS
LL5A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23187
MIM: 612834
HGNC: 23697
Ensembl: ENSG00000019144

Variants:

dbSNP: 23187
ClinVar: 23187
TCGA: ENSG00000019144
COSMIC: PHLDB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000019144ENST00000356063Q86UU1
ENSG00000019144ENST00000356063A0A024R3F4
ENSG00000019144ENST00000361417Q86UU1
ENSG00000019144ENST00000361417A0A024R3H6
ENSG00000019144ENST00000528594Q86UU1
ENSG00000019144ENST00000530708A0A087WXY7
ENSG00000019144ENST00000530994Q86UU1
ENSG00000019144ENST00000532639A0A087WTZ7
ENSG00000019144ENST00000534140A0A087WZL0
ENSG00000019144ENST00000600882Q86UU1
ENSG00000019144ENST00000600882A0A024R3H6

Expression (GTEx)

0
50
100
150
200
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

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
195783672009Genome-wide association study identifies five susceptibility loci for glioma.340
213500452011Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.34
208470582010Genetic risk profiles identify different molecular etiologies for glioma.28
205137692010Laminin-based cell adhesion anchors microtubule plus ends to the epithelial cell basal cortex through LL5alpha/beta.26
204629332010Interaction between 5 genetic variants and allergy in glioma risk.21
249824452014Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.19
266103922015Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.10
240015992014Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.7
233007982012Fine mapping of a region of chromosome 11q23.3 reveals independent locus associated with risk of glioma.6
261563972015Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.4

Citation

Dessen P

PHLDB1 (pleckstrin homology like domain family B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54007/phldb1