1. Gene
  2. NEUROD1 - neuronal differentiation 1 Gene

NEUROD1 - neuronal differentiation 1 Gene

Homo sapiens

Also known as T2D; BETA2; BHF-1; MODY6; NEUROD; bHLHa3

Gene ID: 4760 | Gene type: protein coding

About NEUROD1

Cytogenetic location: 2q31.3 Genomic coordinates (GRCh38): 2:181,668,295-181,680,517 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 15 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 3.1), duodenum (RPKM 3.0) and 4 other tissues.

Summary

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with Other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the Insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

NEUROD1 Products(1)

mRNA Protein Name
NM_002500.5 NP_002491.3 neurogenic differentiation factor 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
14752053 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
10545951 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
19619559 GOA
enables E-box binding IDA
IDA: Inferred from direct assay
14752053 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
10545951 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14752053 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
14752053 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
10545951 GOA
contributes to sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10545951 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of insulin secretion IDA
IDA: Inferred from direct assay
17941991 GOA
involved in positive regulation of DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
14752053 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10545951 GOA
involved in positive regulation of transcription regulatory region DNA binding IDA
IDA: Inferred from direct assay
19619559 GOA
involved in response to glucose IMP
IMP: Inferred from mutant phenotype
10545951 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
10545951 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14752053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEUROD1 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (102 - 153)

Neuro_bHLH

Neuro_bHLH: Neuronal helix-loop-helix transcription factor (160 - 284)

  • 0
  • 100
  • 200
  • 300
  • 356 a.a.
Protein Preferred Names Protein Names

neurogenic differentiation factor 1

basic helix-loop-helix transcription factor

NEUROD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6
Y2H Pooling
32814053
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32814053
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6
Y2H Array
32814053
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3
Y2H Prey Pooling
32296183
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3
Validated Y2H
32296183
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3
Anti Tag CoIP
28514442
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3
Y2H Array
32296183
Intra
NEUROD1 Q13562 TCF4 Homo sapiens P15884-3
Y2H Array
32296183
Intra
NEUROD1 Q13562 TCF4 Homo sapiens P15884-3
Y2H Prey Pooling
32296183
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2
Y2H Pooling
32814053
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2
Validated Y2H
32814053
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2
Y2H Array
32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464
Y2H Pooling
32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464
Validated Y2H
32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464
Y2H Array
32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219
Validated Y2H
32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219
Y2H Pooling
32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Maturity-Onset Diabetes Of The Young, Type 6

MODY6

Maturity-Onset Diabetes Of The Young Type 6

Maturity-Onset Diabetes Of The Young 6

Mody Type 6

Mody, Type 6

Mody-6

Diabetes Of The Young, Maturity-Onset, Type 6

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Diabetes Mellitus

Diabetes

Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm

Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4

MODY4

Mody, Type Iv

Mody Type 4

Mody, Type 4

Maturity-Onset Diabetes Of The Young 4

Mody-4

Diabetes Of The Young, Maturity-Onset, Type 4

Maturity-Onset Diabetes Of The Young, Type Iv

Type 1 Diabetes Mellitus 7

Diabetes Mellitus, Insulin-Dependent, 7

Iddm7

Insulin-Dependent Diabetes Mellitus 7

T1D7

Maturity-Onset Diabetes Of The Young, Type 7

Maturity-Onset Diabetes Of The Young Type 7

MODY7

Maturity-Onset Diabetes Of The Young, Type Vii

Maturity-Onset Diabetes Of The Young 7

Mody-7

Mody Type 7

Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 9

Maturity-Onset Diabetes Of The Young Type 9

MODY9

Maturity-Onset Diabetes Of The Young, Type Ix

Maturity-Onset Diabetes Of The Young 9

Mody-9

Mody Type 9

Diabetes Of The Young, Maturity-Onset, Type 9

Maturity-Onset Diabetes Of The Young, Type 11

Maturity-Onset Diabetes Of The Young Type 11

MODY11

Maturity-Onset Diabetes Of The Young 11

Mody-11

Mody Type 11

Diabetes Of The Young, Maturity-Onset, Type 11

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young Type 8

MODY8

Dped

Maturity-Onset Diabetes Of The Young, Type Viii

Mody Type 8

Diabetes And Pancreatic Exocrine Dysfunction

Diabetes-Pancreatic Exocrine Dysfunction Syndrome

Diabetes And Pancreatic Exocrine

Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction

Diabetes And Pancreatic Exocrine Dysfunction Syndrome

Mody-8

Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1

MODY1

Mild Juvenile Diabetes Mellitus

Mody, Type I

Diabetes Mellitus Type 2

Mody Type 1

Mody, Type 1

Maturity-Onset Diabetes Of The Young 1

Mody-1

Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2

MODY2

Mody Glucokinase-Related

Mody Type 2

Mody, Type 2

Mody, Glucokinase-Related

Mody, Type Ii

Maturity-Onset Diabetes Of The Young 2

Mody-2

Diabetes Of The Young, Maturity-Onset, Type 2

Diabetes Mellitus Autosomal Dominant Type Ii

Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Maturity-Onset Diabetes Of The Young, Type 13

Maturity-Onset Diabetes Of The Young Type 13

MODY13

Mody Type 13

Mody, Type 13

Maturity-Onset Diabetes Of The Young 13

Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10

MODY10

Maturity-Onset Diabetes Of The Young 10

Mody-10

Mody Type 10

Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 14

Maturity-Onset Diabetes Of The Young Type 14

MODY14

Maturity-Onset Diabetes Of The Young 14

Diabetes Of The Young, Maturity-Onset, Type 14

Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

Neuroendocrine Carcinoma

Neuroendocrine Cancer

Carcinoma Neuroendocrine

Carcinoma, Neuroendocrine

Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

Neonatal Diabetes

Neonatal Diabetes Mellitus

Diabetes Mellitus Syndrome In Newborn Infant

Ndm

Gestational Diabetes

Gestational Diabetes Mellitus

GDM

Diabetes Mellitus Arising In Pregnancy

Maternal Gestational Diabetes Mellitus

Diabetes Mellitus, Gestational

Diabetes Mellitus, Pregnancy Related

Diabetes, Pregnancy-Induced

Diabetes Gestational

Diabetes, Gestational

Diabetes Of Pregnancy

Gdm - [Gestational Diabetes Mellitus]

Gestational Diabetes Mellitus Nos

Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Type 1 Diabetes Mellitus 11

Diabetes Mellitus, Insulin-Dependent, 11

Iddm11

Insulin-Dependent Diabetes Mellitus 11

T1D11

Insulin-Dependent Diabetes Mellitus-11

Spastic Paraplegia 52, Autosomal Recessive

SPG52

Hereditary Spastic Paraplegia 52

Cpsq6

Cerebral Palsy, Spastic Quadriplegic, 6, Formerly

Cpsq6, Formerly

Autosomal Recessive Spastic Paraplegia 52

Spastic Quadriplegic Cerebral Palsy 6

Cerebral Palsy, Spastic Quadriplegic 6

Pulmonary Neuroendocrine Tumor

Neuroendocrine Neoplasm Of Lung

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Pancreatic Cystadenoma

Cystadenoma Of Pancreas

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Hyperinsulinemic Hypoglycemia

Nesidioblastosis

Islet Cell Hyperplasia

Persistent Hyperinsulinemia Hypoglycemia Of Infancy

Hyperinsulinemic Hypoglycaemia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NEUROD1 VGNC VGNC:32017
Rattus norvegicus NEUROD1 RGD RGD:3165
Mus musculus NEUROD1 MGD MGI:1339708
Felis catus NEUROD1 VGNC VGNC:68464
Macaca mulatta NEUROD1 VGNC VGNC:75320