TXNRD2
entrez
10587
canonical
uniprot
Q9NNW7
canonical
ensembl
ENSG00000184470
resolver
ensp
ENSP00000334451
resolver
ensp
ENSP00000383362
resolver
ensp
ENSP00000383363
resolver
ensp
ENSP00000383365
resolver
ensp
ENSP00000485128
resolver
ensp
ENSP00000485543
resolver
enst
ENST00000334363
resolver
enst
ENST00000400521
resolver
enst
ENST00000491939
resolver
enst
ENST00000542719
resolver
genesymbol
TXNRD2
resolver
genesymbol_syn
KIAA1652
resolver
genesymbol_syn
TRXR2
resolver
hgnc
HGNC:18155
resolver
uniprot
A0A096LPD9
resolver
uniprot
E7EWK1
resolver
uniprot
O95840
resolver
uniprot
Q96IJ2
resolver
uniprot
Q9H2Z5
resolver
uniprot
Q9NZV3
resolver
uniprot
Q9NZV4
resolver
uniprot
Q9P2Y0
resolver
uniprot
Q9P2Y1
resolver
uniprot
Q9UQU8
resolver
uniprot_entry
A0A096LPD9_HUMAN
resolver
uniprot_entry
E7EWK1_HUMAN
resolver
uniprot_entry
TRXR2_HUMAN
resolver
uniprot_sec
O95840
resolver
uniprot_sec
Q96IJ2
resolver
uniprot_sec
Q9H2Z5
resolver
uniprot_sec
Q9NZV3
resolver
uniprot_sec
Q9NZV4
resolver
uniprot_sec
Q9P2Y0
resolver
uniprot_sec
Q9P2Y1
resolver
uniprot_sec
Q9UQU8
resolver
amino_acid_sequence
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGCUG
uniprot
proteins
disease_involvement
DISEASE: Glucocorticoid deficiency 5 (GCCD5) [MIM:617825]: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269|PubMed:24601690}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.8.1.9
uniprot
proteins
function
FUNCTION: Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling. {ECO:0000250|UniProtKB:Q9Z0J5, ECO:0000269|PubMed:24601690}.
uniprot
proteins
mass_dalton
56507
uniprot
proteins
protein_family
Class-I pyridine nucleotide-disulfide oxidoreductase family
uniprot
proteins
pubmed
10215850
uniprot
proteins
pubmed
10455115
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10608886
uniprot
proteins
pubmed
11060283
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24601690
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9923614
uniprot
proteins
sequence_length
524
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10215850}.
uniprot
proteins