NEUROD2
Neurogenic differentiation factor 2
Also known as: bHLHa1, NDF2_HUMAN, NDRF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15784
- Gene
- NEUROD2
- Ensembl
- ENSG00000171532
- Chromosome
- 17
- Canonical length
- 382 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
382 residues, UniProt reviewed canonical sequence.
>Q15784|NEUROD2
1 MLTRLFSEPG LLSDVPKFAS WGDGEDDEPR SDKGDAPPPP PPAPGPGAPG PARAAKPVPL
61 RGEEGTEATL AEVKEEGELG GEEEEEEEEE EGLDEAEGER PKKRGPKKRK MTKARLERSK
121 LRRQKANARE RNRMHDLNAA LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI WALSEILRSG
181 KRPDLVSYVQ TLCKGLSQPT TNLVAGCLQL NSRNFLTEQG ADGAGRFHGS GGPFAMHPYP
241 YPCSRLAGAQ CQAAGGLGGG AAHALRTHGY CAAYETLYAA AGGGGASPDY NSSEYEGPLS
301 PPLCLNGNFS LKQDSSPDHE KSYHYSMHYS ALPGSRPTGH GLVFGSSAVR GGVHSENLLS
361 YDMHLHHDRG PMYEELNAFF HNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NEUROD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 99 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 99 nTPM
- hippocampal formation: 41 nTPM
- cerebral cortex: 29 nTPM
- amygdala: 17 nTPM
- spinal cord: 2.5 nTPM
- midbrain: 1.4 nTPM
Single-cell type
- brain excitatory neurons: 38 nCPM
- neuroendocrine cells: 11 nCPM
- retinal bipolar cells: 5.9 nCPM
- retinal pigment epithelial cells: 4.3 nCPM
- paneth cells: 3.9 nCPM
- brain inhibitory neurons: 2.9 nCPM
Immune cell
- basophil: 0.5 nTPM
- MAIT T-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- non-classical monocyte: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
Brain region
- cerebral cortex: 81 nTPM
- hippocampal formation: 80 nTPM
- cerebellum: 80 nTPM
- white matter: 45 nTPM
- basal ganglia: 44 nTPM
- pons: 42 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NEUROD2.
Disease | AllUniProt
Conditions NEUROD2 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 72 (DEE72) MIM:618374
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 110 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 72
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.33
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 2.67
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- associative learning
- axon development
- behavioral fear response
- cellular response to calcium ion
- cellular response to electrical stimulus
- cerebellar cortex development
- negative regulation of synapse maturation
- nervous system development
- positive regulation of calcium-mediated signaling
- positive regulation of DNA-binding transcription factor activity
- positive regulation of neuron differentiation
- positive regulation of synapse maturation
- positive regulation of synaptic plasticity
- positive regulation of transcription by RNA polymerase II
- protein ubiquitination
- regulation of transcription by RNA polymerase II
- sensory organ development
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- E-box binding
- protein heterodimerization activity
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Myc-type, basic helix-loop-helix (bHLH) domain
- Neurogenic differentiation factor NeuroD
- Neurogenic differentiation factor, domain of unknown function
- Helix-loop-helix DNA-binding domain superfamily
- Basic helix-loop-helix transcription factors
- Helix-loop-helix DNA-binding domain
- Neuronal helix-loop-helix transcription factor
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NEUROD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NEUROD2 as an antibody target. Whether an autoantibody or antibody against NEUROD2 could matter depends on whether native NEUROD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NEUROD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NEUROD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...