NEUROD2 (neuronal differentiation 2)

2014-08-01 Affiliation

Identity

HGNC

NEUROD2

LOCATION

17q12

LOCUSID

4761

ALIAS

DEE72,EIEE72,NDRF,bHLHa1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171532	ENST00000302584	Q15784

Expression (GTEx)

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 ID	Year	Title	Citations
19086053	2009	Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.	34
19124506	2009	Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.	22
17117180	2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.	16
22752091	2012	Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21.	14
29226333	2018	p53 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.	9
11473083	2001	NeuroD/beta2 gene G-->A polymorphism may affect onset pattern of type 1 diabetes in Japanese.	2
30323019	2019	De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.	2
11900979	2002	The proneural genes NEUROD1 and NEUROD2 are expressed during human trophoblast invasion.	1
28470106	2017	Associations of NEUROD2 polymorphisms and change of cognitive dysfunctions in schizophrenia and schizoaffective disorder after eight weeks of antipsychotic treatment.	1
16607387	2006	A possible impact of the neuroD2 transcription factor on the development of drug abusing behavior.	0

Citation

Dessen P

NEUROD2 (neuronal differentiation 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54498/neurod2