Human Gene NEUROD6 (uc003tch.4) Description and Page Index
Description: Homo sapiens neuronal differentiation 6 (NEUROD6), mRNA. RefSeq Summary (NM_022728): 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]. ##Evidence-Data-START## Transcript exon combination :: BC035048.2, AF248954.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000297142.4/ ENSP00000297142.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr7:31,377,075-31,380,538 Size: 3,464 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr7:31,377,869-31,378,882 Size: 1,014 Coding Exon Count: 1
ID:NDF6_HUMAN DESCRIPTION: RecName: Full=Neurogenic differentiation factor 6; Short=NeuroD6; AltName: Full=Class A basic helix-loop-helix protein 2; Short=bHLHa2; AltName: Full=Protein atonal homolog 2; 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). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein (By similarity). SUBCELLULAR LOCATION: Nucleus (Probable). SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SEQUENCE CAUTION: Sequence=AAG43167.1; Type=Frameshift; Positions=300, 307;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NEUROD6 CDC HuGE Published Literature: NEUROD6 Positive Disease Associations: Parietal Lobe Related Studies:
Parietal Lobe Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics.
Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96NK8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0046983 protein dimerization activity
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0021542 dentate gyrus development GO:0030154 cell differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter