NEUROD6 neuronal differentiation 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEUROD6provided by HGNC
Official Full Name: neuronal differentiation 6provided by HGNC
Primary source: HGNC:HGNC:13804
See related: Ensembl:ENSG00000164600 MIM:611513; AllianceGenome:HGNC:13804
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Nex1; Atoh2; MATH2; NEX1M; Math-2; bHLHa2
Summary: 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]
Expression: Restricted expression toward brain (RPKM 7.3) See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (31337465..31340726, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (31475149..31478410, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (31377079..31380340, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

single nucleotide polymorphisms in either the region of NEUROD6 or SNAP25 were significantly associated with Alzheimer's Disease, in APOE4+ females and APOE4+ males, respectively.
Title: Leveraging existing data sets to generate new insights into Alzheimer's disease biology in specific patient subsets.
NeuroD6 serves as a possible biomarker for Alzheimer disease brains.
Title: RNA-Seq data mining: downregulation of NeuroD6 serves as a possible biomarker for alzheimer's disease brains.
Observational study of gene-disease association. (HuGE Navigator)
Title: Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.
cloning and some features of a novel human gene, MATH2, which encodes a protein of 337 amino acid residues with a basic helix loop helix domain and exhibits 98% similarity to mouse Math2
Title: Cloning, chromosome localization and features of a novel human gene, MATH2.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NEUROD6 (e-PCR)
- UniSTS:503634

NEUROD6_223.2 (e-PCR)
- UniSTS:468092

RH78250 (e-PCR)
- UniSTS:19385

BF386980 (e-PCR)
- UniSTS:243902

Neurod6 (e-PCR), detects polymorphism
- UniSTS:507084

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in dentate gyrus development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neurogenic differentiation factor 6

Names: brain my051 protein; class A basic helix-loop-helix protein 2; protein atonal homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022728.4 → NP_073565.2 neurogenic differentiation factor 6

See identical proteins and their annotated locations for NP_073565.2

Status: REVIEWED

Source sequence(s)

AF248954

Consensus CDS

CCDS5434.1

UniProtKB/Swiss-Prot

Q548T9, Q96NK8, Q9H3H6

UniProtKB/TrEMBL

A0A090N7T3, B3KNX6, Q7Z4W9, Q8IYR9

Related

ENSP00000297142.3, ENST00000297142.4

Conserved Domains (2) summary

cd19722
Location:82 → 151

bHLH_TS_NeuroD6_ATOH2; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 6 (NeuroD6) and similar proteins

pfam12533
Location:153 → 272

Neuro_bHLH; Neuronal helix-loop-helix transcription factor