NEUROD1 (neuronal differentiation 1)

2007-02-01 Affiliation

Identity

HGNC

NEUROD1

LOCATION

2q31.3

LOCUSID

4760

ALIAS

BETA2,BHF-1,MODY6,NEUROD,T2D,bHLHa3

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: 4760
MIM: 601724
HGNC: 7762
Ensembl: ENSG00000162992

Variants:

dbSNP: 4760
ClinVar: 4760
TCGA: ENSG00000162992
COSMIC: NEUROD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000162992	ENST00000295108	Q13562
ENSG00000162992	ENST00000295108	A0A0S2Z493

Expression (GTEx)

100

150

200

250

300

350

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

Pathways

Pathway	Source	External ID
Maturity onset diabetes of the young	KEGG	ko04950
Maturity onset diabetes of the young	KEGG	hsa04950
Developmental Biology	REACTOME	R-HSA-1266738
Regulation of beta-cell development	REACTOME	R-HSA-186712
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells	REACTOME	R-HSA-210746
Regulation of gene expression in beta cells	REACTOME	R-HSA-210745

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA24684	AKT1	Gene	Pathway	associated
PA443886	Diabetes Mellitus	Disease	ClinicalAnnotation	associated	PD
PA451234	repaglinide	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
20682687	2010	Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.	88
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17327436	2007	Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.	74
15650322	2004	NeuroD: the predicted and the surprising.	45
23739064	2013	Selective tropism of Seneca Valley virus for variant subtype small cell lung cancer.	37
12890672	2003	NeuroD1/E47 regulates the E-box element of a novel zinc finger transcription factor, IA-1, in developing nervous system.	36
15247487	2004	The role of BETA2/NeuroD1 in the development of the nervous system.	35
20573748	2010	Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.	35
20573748	2010	Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.	35
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

Citation

Dessen P

NEUROD1 (neuronal differentiation 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46351/neurod1