Entry - *611513 - NEUROGENIC DIFFERENTIATION 6; NEUROD6 - OMIM

 
 
* 611513

NEUROGENIC DIFFERENTIATION 6; NEUROD6


Alternative titles; symbols

ATOH2
MATH2


HGNC Approved Gene Symbol: NEUROD6

Cytogenetic location: 7p14.3     Genomic coordinates (GRCh38): 7:31,337,465-31,340,726 (from NCBI)


TEXT

▼ Description

NEUROD6 is a member of the NEUROD (NEUROD1; 601724) family of basic helix-loop-helix (bHLH) transcription factors (Guo et al., 2002).


▼ Cloning and Expression

As part of a large-scale sequence analysis of a human fetal brain cDNA library, Guo et al. (2002) cloned NEUROD6, which they called MATH2. The deduced 337-amino acid protein contains an N-terminal region rich in glutamic acid followed by a basic helix-loop-helix (bHLH) domain. The NEUROD6 protein shares 98% overall identity with the mouse Math2 ortholog, with 100% identity over the Math2 bHLH domain. NEUROD6 shares 95% identity over the bHLH region with NEUROD1 and NEUROD2 (601725). Northern blot analysis of 8 human tissues detected 2.4- and 1.7-kb transcripts exclusively in brain; the 2.4-kb transcript corresponds to the full-length cDNA.


▼ Gene Structure

Guo et al. (2002) determined that the NEUROD6 gene contains 2 exons.


▼ Mapping

By genomic sequence analysis, Guo et al. (2002) mapped the NEUROD6 gene to chromosome 7p15-p14.


▼ REFERENCES

  1. Guo, L., Jiang, M., Ma, Y., Cheng, H., Ni, X., Jin, Y., Xie, Y., Mao, Y. Cloning, chromosome localization and features of a novel human gene, MATH2. J. Genet. 81: 13-17, 2002. [PubMed: 12357074, related citations] [Full Text]


Creation Date:
Dorothy S. Reilly : 10/8/2007
Edit History:
mgross : 10/08/2007
alopez : 10/8/2007
alopez : 10/8/2007

* 611513

NEUROGENIC DIFFERENTIATION 6; NEUROD6


Alternative titles; symbols

ATOH2
MATH2


HGNC Approved Gene Symbol: NEUROD6

Cytogenetic location: 7p14.3     Genomic coordinates (GRCh38): 7:31,337,465-31,340,726 (from NCBI)


TEXT

Description

NEUROD6 is a member of the NEUROD (NEUROD1; 601724) family of basic helix-loop-helix (bHLH) transcription factors (Guo et al., 2002).


Cloning and Expression

As part of a large-scale sequence analysis of a human fetal brain cDNA library, Guo et al. (2002) cloned NEUROD6, which they called MATH2. The deduced 337-amino acid protein contains an N-terminal region rich in glutamic acid followed by a basic helix-loop-helix (bHLH) domain. The NEUROD6 protein shares 98% overall identity with the mouse Math2 ortholog, with 100% identity over the Math2 bHLH domain. NEUROD6 shares 95% identity over the bHLH region with NEUROD1 and NEUROD2 (601725). Northern blot analysis of 8 human tissues detected 2.4- and 1.7-kb transcripts exclusively in brain; the 2.4-kb transcript corresponds to the full-length cDNA.


Gene Structure

Guo et al. (2002) determined that the NEUROD6 gene contains 2 exons.


Mapping

By genomic sequence analysis, Guo et al. (2002) mapped the NEUROD6 gene to chromosome 7p15-p14.


REFERENCES

  1. Guo, L., Jiang, M., Ma, Y., Cheng, H., Ni, X., Jin, Y., Xie, Y., Mao, Y. Cloning, chromosome localization and features of a novel human gene, MATH2. J. Genet. 81: 13-17, 2002. [PubMed: 12357074] [Full Text: https://doi.org/10.1007/BF02715865]


Creation Date:
Dorothy S. Reilly : 10/8/2007

Edit History:
mgross : 10/08/2007
alopez : 10/8/2007
alopez : 10/8/2007



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 13, 2024