NEUROD2 (neuronal differentiation 2)

2014-08-01  

Identity

HGNC
NEUROD2
LOCATION
17q12
LOCUSID
4761
ALIAS
DEE72,EIEE72,NDRF,bHLHa1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4761
MIM: 601725
HGNC: 7763
Ensembl: ENSG00000171532

Variants:

dbSNP: 4761
ClinVar: 4761
TCGA: ENSG00000171532
COSMIC: NEUROD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171532ENST00000302584Q15784

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

References

Pubmed IDYearTitleCitations
379550062023NEUROD2 function is dispensable for human pancreatic β cell specification.0
379550062023NEUROD2 function is dispensable for human pancreatic β cell specification.0
334388282021Expansion of NEUROD2 phenotypes to include developmental delay without seizures.5
341881642021Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.14
334388282021Expansion of NEUROD2 phenotypes to include developmental delay without seizures.5
341881642021Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.14
303230192019De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.19
303230192019De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.19
292263332018p53 and miR-210 regulated NeuroD2, a neuronal basic helix-loop-helix transcription factor, is downregulated in glioblastoma patients and functions as a tumor suppressor under hypoxic microenvironment.17
292263332018p53 and miR-210 regulated NeuroD2, a neuronal basic helix-loop-helix transcription factor, is downregulated in glioblastoma patients and functions as a tumor suppressor under hypoxic microenvironment.17
284701062017Associations of NEUROD2 polymorphisms and change of cognitive dysfunctions in schizophrenia and schizoaffective disorder after eight weeks of antipsychotic treatment.6
284701062017Associations of NEUROD2 polymorphisms and change of cognitive dysfunctions in schizophrenia and schizoaffective disorder after eight weeks of antipsychotic treatment.6
227520912012Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.18
227520912012Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.18
208805942011Lack of association between SNPs in the NEUROD2 gene and alcohol dependence in a German patient sample.0

Citation

Dessen P

NEUROD2 (neuronal differentiation 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54498/css/case-report-explorer/js/lib/zoomerang.js