RBCC Red Blood Cell Collection

NGN3_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NEUROG3 , ATOH5, BHLHA7, NGN3
Protein names and data: NGN3_HUMAN , Neurogenin-3; NGN-3 , Class A basic helix-loop-helix protein 7; bHLHa7; Protein atonal homolog 5 Lenght: 214 a.a.
Mass: 23077 Da
fasta formatted sequence
Function: Acts as a transcriptional regulator. Together with NKX2- 2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity).
Disease: ( OMIM: 604882 610370 ) Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus (Potential).

Genetic variants

93 - 93 R -> L (in DIAR4; attenuated NEUROG3 function in vivo). VAR_029003
107 - 107 R -> S (in DIAR4; attenuated NEUROG3 function in vivo). VAR_029004
199 - 199 F -> S (in dbSNP:rs4536103). VAR_055316 4536103

Database cross-references

UniProt: Q9Y4Z2
Ensembl: ENST00000242462
MIM: 604882
MIM: 610370
neXtProt: NX_Q9Y4Z2
Antibodypedia: Q9Y4Z2 (may not find the protein thus also not any antibody)
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