BHLHE23 (basic helix-loop-helix family member e23)

2017-04-01  

Identity

HGNC
BHLHE23
LOCATION
20q13.33
LOCUSID
128408
ALIAS
BETA4,BHLHB4,Beta3b,bA305P22.3

Other Information

Locus ID:

NCBI: 128408
MIM: 609331
HGNC: 16093
Ensembl: ENSG00000125533

Variants:

dbSNP: 128408
ClinVar: 128408
TCGA: ENSG00000125533
COSMIC: BHLHE23

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125533ENST00000370346Q8NDY6
ENSG00000125533ENST00000612929A0A087WXG3

Expression (GTEx)

0
1
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
N/A

References

Pubmed IDYearTitleCitations
153633902004The transcription factor Bhlhb4 is required for rod bipolar cell maturation.59
153633902004The transcription factor Bhlhb4 is required for rod bipolar cell maturation.59
118633702002BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary.23
118633702002BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary.23

Citation

Dessen P

BHLHE23 (basic helix-loop-helix family member e23)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56741/js/lib/js/gene-fusions-explorer/