PAX9
entrez
5083
canonical
uniprot
P55771
canonical
ensembl
ENSG00000198807
resolver
ensp
ENSP00000355245
resolver
ensp
ENSP00000384817
resolver
enst
ENST00000361487
resolver
enst
ENST00000402703
resolver
genesymbol
PAX9
resolver
genesymbol
Pax9
resolver
genesymbol_syn
PAX9
resolver
hgnc
HGNC:8623
resolver
uniprot
Q2L4T1
resolver
uniprot
Q99582
resolver
uniprot
Q9UQR4
resolver
uniprot_entry
PAX9_HUMAN
resolver
uniprot_entry
Q2L4T1_HUMAN
resolver
uniprot_sec
Q99582
resolver
uniprot_sec
Q9UQR4
resolver
amino_acid_sequence
MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIYSYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHAVNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPASLAFKGMQAAREGSHSVTASAL
uniprot
proteins
disease_involvement
DISEASE: Tooth agenesis, selective, 3 (STHAG3) [MIM:604625]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269|PubMed:12786960}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. {ECO:0000250, ECO:0000269|PubMed:12657635}.
uniprot
proteins
mass_dalton
36310
uniprot
proteins
mutagenesis
MUTAGEN 173..174; /note="VP->AA: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635"; MUTAGEN 179..180; /note="VP->AA: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635"; MUTAGEN 189; /note="P->A: Abolishes interaction with KDM5B."; /evidence="ECO:0000269|PubMed:12657635
uniprot
proteins
pubmed
10899593
uniprot
proteins
pubmed
12657635
uniprot
proteins
pubmed
12786960
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
7981748
uniprot
proteins
pubmed
9021154
uniprot
proteins
sequence_length
341
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins