NEUROD6 (neuronal differentiation 6)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63974
Gene name Gene Name - the full gene name approved by the HGNC.
Neuronal differentiation 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEUROD6
Synonyms (NCBI Gene) Gene synonyms aliases
Atoh2, MATH2, Math-2, NEX1M, Nex1, bHLHa2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.3
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT2281867 hsa-miR-374a CLIP-seq
MIRT2281868 hsa-miR-374b CLIP-seq
MIRT2281869 hsa-miR-586 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611513 13804 ENSG00000164600
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96NK8
Protein name Neurogenic differentiation factor 6 (NeuroD6) (Class A basic helix-loop-helix protein 2) (bHLHa2) (Protein atonal homolog 2)
Protein 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). {ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 95 → 147 Helix-loop-helix DNA-binding domain Domain
PF12533 Neuro_bHLH 153 → 272 Neuronal helix-loop-helix transcription factor Family
Sequence 
MLTLPFDESVVMPESQMCRKFSRECEDQKQIKKPESFSKQIVLRGKSIKRAPGEETEKEE
EEEDREEEDENGLPRRRGLRKKKTTKLRLERVKFRRQEANARERNRMHGLNDALDNLRKV
VPCYSKTQKLSKIETLRLAKNYIWALSEILRIGKRPDLLTFVQNLCKGLSQPTTNLVAGC
LQLNARSFLMGQGGEAAHHTRSPYSTFYPPYHSPELTTPPGHGTLDNSKSMKPYNYCSAY
ESFYESTSPECASPQFEGPLSPPPINYNGIFSLKQEETLDYGKNYNYGMHYCAVPPRGPL
GQGAMFRLPTDSHFPYDLHLRSQSLTMQDELNAVFHN
Sequence length 337
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25548427, 26395074, 26433351
Drug Resistant Epilepsy Associate 27094248
Lung Neoplasms Associate 22384118
Mohr Tranebjaerg syndrome Associate 27094248
Obsessive Compulsive Disorder Associate 24821223