NEUROD1 - neuronal differentiation 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4760

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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 References
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
NEUROD1 Q13562 FKBP1A Homo sapiens Q0VDC6 32814053
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3 32296183
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3 32296183
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3 28514442
Intra
NEUROD1 Q13562 TCF12 Homo sapiens Q99081-3 32296183
Intra
NEUROD1 Q13562 TCF4 Homo sapiens P15884-3 32296183
Intra
NEUROD1 Q13562 TCF4 Homo sapiens P15884-3 32296183
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2 32814053
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2 32814053
Intra
NEUROD1 Q13562 NUP58 Homo sapiens Q9BVL2 32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464 32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464 32814053
Intra
NEUROD1 Q13562 HTRA2 Homo sapiens O43464 32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219 32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219 32814053
Intra
NEUROD1 Q13562 PRPH Homo sapiens P41219 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

NEUROD1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83536 NeuroD1 Antibody (YA3281) WB, IHC-P, IHC-F, IP Human, Mouse, Rat
HY-P84552 Neurod Antibody (YA4249) WB, IHC-P, FC, ELISA Human
HY-P84552A Neurod Antibody (YA4249)(PBS only) WB, IHC-P, FC, ELISA Human

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
Others NEUROD1 NCBI