PAX8
entrez
7849
canonical
uniprot
Q06710
canonical
ensembl
ENSG00000125618
resolver
ensp
ENSP00000263335
resolver
ensp
ENSP00000314750
resolver
ensp
ENSP00000380768
resolver
ensp
ENSP00000395498
resolver
genesymbol
PAX8
resolver
hgnc
HGNC:8622
resolver
uniprot
A0A024R4X3
resolver
uniprot
Q09155
resolver
uniprot
Q16337
resolver
uniprot
Q16338
resolver
uniprot
Q16339
resolver
uniprot
Q4ZG35
resolver
uniprot
Q96J49
resolver
uniprot
R9W7C9
resolver
uniprot_entry
PAX8_HUMAN
resolver
uniprot_entry
R9W7C9_HUMAN
resolver
uniprot_sec
A0A024R4X3
resolver
uniprot_sec
Q09155
resolver
uniprot_sec
Q16337
resolver
uniprot_sec
Q16338
resolver
uniprot_sec
Q16339
resolver
uniprot_sec
Q4ZG35
resolver
uniprot_sec
Q96J49
resolver
amino_acid_sequence
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLIPSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPFERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEYSGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL
uniprot
proteins
disease_involvement
DISEASE: Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. {ECO:0000269|PubMed:11232006, ECO:0000269|PubMed:11502839, ECO:0000269|PubMed:9590296}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
uniprot
proteins
mass_dalton
48218
uniprot
proteins
pubmed
11232006
uniprot
proteins
pubmed
11502839
uniprot
proteins
pubmed
1337742
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18829450
uniprot
proteins
pubmed
19010321
uniprot
proteins
pubmed
7737192
uniprot
proteins
pubmed
8413205
uniprot
proteins
pubmed
9590296
uniprot
proteins
sequence_length
450
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins