This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012] See more...

Aliases for NEUROD6 Gene

Aliases for NEUROD6 Gene

  • Neuronal Differentiation 6 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 2 3 4
  • Neurogenic Differentiation Factor 6 3 4
  • Protein Atonal Homolog 2 3 4
  • BHLHa2 3 4
  • Neurogenic Differentiation 6 2
  • Brain My051 Protein 3
  • NeuroD6 4
  • Math-2 3
  • BHLHA2 4
  • Atoh2 3
  • MATH2 3
  • NEX1M 3
  • ATOH2 4
  • Nex1 3

External Ids for NEUROD6 Gene

Previous GeneCards Identifiers for NEUROD6 Gene

  • GC07M031019
  • GC07M031119
  • GC07M031150

Summaries for NEUROD6 Gene

Entrez Gene Summary for NEUROD6 Gene

  • This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]

GeneCards Summary for NEUROD6 Gene

NEUROD6 (Neuronal Differentiation 6) is a Protein Coding gene. Diseases associated with NEUROD6 include Epilepsy, Familial Temporal Lobe, 8 and Tactile Agnosia. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is NEUROD1.

UniProtKB/Swiss-Prot Summary for NEUROD6 Gene

  • Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity).

Additional gene information for NEUROD6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEUROD6 Gene

Genomics for NEUROD6 Gene

GeneHancer (GH) Regulatory Elements for NEUROD6 Gene

Promoters and enhancers for NEUROD6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J031340 Promoter 0.6 EPDnew 500.7 +0.2 178 0.1 CREB1 POLR2A SMARCA4 ATF2 RNF2 E2F1 NEUROD6 ENSG00000271027
GH07J031310 Enhancer 0.7 UCNEbase Ensembl ENCODE 11.5 +29.6 29579 2.2 NEUROD6 piR-61101-606 FJ601684-421
GH07J031369 Enhancer 0.6 Ensembl 11.5 -30.7 -30682 4.4 CTCF REST RAD21 TRIM22 SMC3 YY1 ELF1 ZNF654 NANOG ZNF143 HSALNG0057054 NEUROD6 lnc-NEUROD6-4
GH07J030445 Enhancer 1 Ensembl ENCODE 5.5 +895.0 895024 1.4 RXRA CTCF SP1 ZIC2 REST MYC RAD21 CTBP1 TRIM22 SMC3 HE856046-002 NOD1 NEUROD6 lnc-GGCT-4
GH07J031309 Enhancer 0.3 FANTOM5 15.4 +31.3 31266 0.1 MAX NEUROD6 PPP1R17 piR-61101-606 FJ601684-421
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEUROD6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEUROD6

Top Transcription factor binding sites by QIAGEN in the NEUROD6 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HEN1

Genomic Locations for NEUROD6 Gene

Genomic Locations for NEUROD6 Gene
chr7:31,337,461-31,340,924
(GRCh38/hg38)
Size:
3,464 bases
Orientation:
Minus strand
chr7:31,377,075-31,380,538
(GRCh37/hg19)
Size:
3,464 bases
Orientation:
Minus strand

Genomic View for NEUROD6 Gene

Genes around NEUROD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEUROD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEUROD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEUROD6 Gene

Proteins for NEUROD6 Gene

  • Protein details for NEUROD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NK8-NDF6_HUMAN
    Recommended name:
    Neurogenic differentiation factor 6
    Protein Accession:
    Q96NK8
    Secondary Accessions:
    • Q548T9
    • Q9H3H6

    Protein attributes for NEUROD6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38705 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.
    SequenceCaution:
    • Sequence=AAG43167.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for NEUROD6 Gene

Post-translational modifications for NEUROD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEUROD6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NEUROD6 Gene

Domains & Families for NEUROD6 Gene

Gene Families for NEUROD6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NEUROD6 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NEUROD6 Gene

GenScript: Design optimal peptide antigens:
  • Protein atonal homolog 2 (NDF6_HUMAN)
  • cDNA FLJ78237, highly similar to Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA (Q548T9_HUMAN)
  • Neurogenic differentiation 6 (Q8IYR9_HUMAN)
genes like me logo Genes that share domains with NEUROD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NEUROD6 Gene

Function for NEUROD6 Gene

Molecular function for NEUROD6 Gene

UniProtKB/Swiss-Prot Function:
Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity).

Phenotypes From GWAS Catalog for NEUROD6 Gene

Gene Ontology (GO) - Molecular Function for NEUROD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with NEUROD6: view
genes like me logo Genes that share phenotypes with NEUROD6: view

Animal Models for NEUROD6 Gene

MGI Knock Outs for NEUROD6:

Animal Model Products

CRISPR Products

miRNA for NEUROD6 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEUROD6 Gene

Localization for NEUROD6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEUROD6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEUROD6 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NEUROD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NEUROD6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEUROD6 Gene

Pathways & Interactions for NEUROD6 Gene

PathCards logo

SuperPathways for NEUROD6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEUROD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0021542 dentate gyrus development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with NEUROD6: view

No data available for Pathways by source and SIGNOR curated interactions for NEUROD6 Gene

Drugs & Compounds for NEUROD6 Gene

No Compound Related Data Available

Transcripts for NEUROD6 Gene

mRNA/cDNA for NEUROD6 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEUROD6 Gene

No ASD Table

Relevant External Links for NEUROD6 Gene

GeneLoc Exon Structure for
NEUROD6

Expression for NEUROD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEUROD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEUROD6 Gene

This gene is overexpressed in Brain - Hippocampus (x13.6), Brain - Anterior cingulate cortex (BA24) (x11.9), Brain - Frontal Cortex (BA9) (x9.7), Brain - Cortex (x8.1), and Brain - Amygdala (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEUROD6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEUROD6

SOURCE GeneReport for Unigene cluster for NEUROD6 Gene:

Hs.45152

Evidence on tissue expression from TISSUES for NEUROD6 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with NEUROD6: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEUROD6 Gene

Orthologs for NEUROD6 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEUROD6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEUROD6 31 30
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEUROD6 31 30
  • 97.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEUROD6 31 30
  • 96.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Neurod6 17 31 30
  • 94.16 (n)
rat
(Rattus norvegicus)
Mammalia Neurod6 30
  • 94.07 (n)
oppossum
(Monodelphis domestica)
Mammalia NEUROD6 31
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEUROD6 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEUROD6 31 30
  • 86.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEUROD6 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia neurod6 30
  • 79.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia neurod6-A 30
zebrafish
(Danio rerio)
Actinopterygii neurod6a 31 30
  • 64.58 (n)
OneToMany
neurod6b 31
  • 63 (a)
OneToMany
atoh2a 30
worm
(Caenorhabditis elegans)
Secernentea cnd-1 31 30
  • 50.11 (n)
ManyToMany
ngn-1 31
  • 35 (a)
ManyToMany
Species where no ortholog for NEUROD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEUROD6 Gene

ENSEMBL:
Gene Tree for NEUROD6 (if available)
TreeFam:
Gene Tree for NEUROD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEUROD6: view image

Paralogs for NEUROD6 Gene

(6) SIMAP similar genes for NEUROD6 Gene using alignment to 2 proteins:

  • NDF6_HUMAN
  • Q8IYR9_HUMAN
genes like me logo Genes that share paralogs with NEUROD6: view

Variants for NEUROD6 Gene

Additional dbSNP identifiers (rs#s) for NEUROD6 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEUROD6 Gene

Variant ID Type Subtype PubMed ID
esv3891092 CNV gain 25118596
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297
nsv830940 CNV gain 17160897

Variation tolerance for NEUROD6 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEUROD6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEUROD6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEUROD6 Gene

Disorders for NEUROD6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NEUROD6 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NEUROD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEUROD6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEUROD6 Gene

Publications for NEUROD6 Gene

  1. Cloning, chromosome localization and features of a novel human gene, MATH2. (PMID: 12357074) Guo L … Mao Y (Journal of genetics 2002) 2 3 4 54
  2. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. (PMID: 19733838) Ribasés M … Cormand B (Biological psychiatry 2009) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre RN … Friedlander Y (Journal of lipid research 2015) 3 54
  5. Leveraging existing data sets to generate new insights into Alzheimer's disease biology in specific patient subsets. (PMID: 26395074) Fowler KD … Towfic F (Scientific reports 2015) 3 54

Products for NEUROD6 Gene

Sources for NEUROD6 Gene