NEUROG3
entrez
50674
canonical
uniprot
Q9Y4Z2
canonical
ensembl
ENSG00000122859
resolver
ensp
ENSP00000242462
resolver
ensp
ENSP00000599843
resolver
enst
ENST00000242462
resolver
enst
ENST00000929784
resolver
genesymbol
NEUROG3
resolver
genesymbol_syn
ATOH5
resolver
genesymbol_syn
BHLHA7
resolver
genesymbol_syn
NGN3
resolver
hgnc
HGNC:13806
resolver
uniprot
Q5VVI0
resolver
uniprot
Q6DJX6
resolver
uniprot
Q9BY24
resolver
uniprot_entry
NGN3_HUMAN
resolver
uniprot_sec
Q5VVI0
resolver
uniprot_sec
Q6DJX6
resolver
uniprot_sec
Q9BY24
resolver
amino_acid_sequence
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQRRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELGSPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency (DIAR4) [MIM:610370]: An autosomal recessive disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. In addition to malabsorptive diarrhea, most patients develop insulin-dependent diabetes mellitus in the neonatal period or early childhood, and manifest short stature and delayed puberty. Pituitary gland hypoplasia with multiple pituitary hormone deficiencies and proximal renal tubulopathy have also been observed. {ECO:0000269|PubMed:16855267, ECO:0000269|PubMed:21378176, ECO:0000269|PubMed:21490072, ECO:0000269|PubMed:25120094, ECO:0000269|PubMed:28724572, ECO:0000269|PubMed:32574610, ECO:0000269|PubMed:36149814, ECO:0000269|PubMed:37168762}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a transcriptional regulator involved in the control of enteroendocrine cell differentiation (PubMed:21378176). Together with NKX2-2, initiates transcriptional activation of NEUROD1 (PubMed:16855267, PubMed:21378176). Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity). {ECO:0000250|UniProtKB:P70661, ECO:0000269|PubMed:16855267}.
uniprot
proteins
mass_dalton
23077
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16855267
uniprot
proteins
pubmed
21378176
uniprot
proteins
pubmed
21490072
uniprot
proteins
pubmed
25120094
uniprot
proteins
pubmed
28724572
uniprot
proteins
pubmed
32574610
uniprot
proteins
pubmed
36149814
uniprot
proteins
pubmed
37168762
uniprot
proteins
sequence_length
214
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
uniprot
proteins