TMX2
entrez
51075
canonical
uniprot
Q9Y320
canonical
ensembl
ENSG00000213593
resolver
ensp
ENSP00000278422
resolver
ensp
ENSP00000367562
resolver
ensp
ENSP00000555054
resolver
ensp
ENSP00000660440
resolver
genesymbol
TMX2
resolver
genesymbol_syn
TXNDC14
resolver
hgnc
HGNC:30739
resolver
uniprot
B7Z4R4
resolver
uniprot
Q53G73
resolver
uniprot
Q561W0
resolver
uniprot
Q5J7Q7
resolver
uniprot
Q8NBP9
resolver
uniprot
Q9H3L1
resolver
uniprot_entry
TMX2_HUMAN
resolver
uniprot_sec
B7Z4R4
resolver
uniprot_sec
Q53G73
resolver
uniprot_sec
Q561W0
resolver
uniprot_sec
Q5J7Q7
resolver
uniprot_sec
Q8NBP9
resolver
uniprot_sec
Q9H3L1
resolver
amino_acid_sequence
MAVLAPLIALVYSVPRLSRWLAQPYYLLSALLSAAFLLVRKLPPLCHGLPTQREDGNPCDFDWREVEILMFLSAIVMMKNRRSITVEQHIGNIFMFSKVANTILFFRLDIRMGLLYITLCIVFLMTCKPPLYMGPEYIKYFNDKTIDEELERDKRVTWIVEFFANWSNDCQSFAPIYADLSLKYNCTGLNFGKVDVGRYTDVSTRYKVSTSPLTKQLPTLILFQGGKEAMRRPQIDKKGRAVSWTFSEENVIREFNLNELYQRAKKLSKAGDNIPEEQPVASTPTTVSDGENKKDK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) [MIM:618730]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients. {ECO:0000269|PubMed:31586943, ECO:0000269|PubMed:31735293}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endoplasmic reticulum and mitochondria-associated protein that probably functions as a regulator of cellular redox state and thereby regulates protein post-translational modification, protein folding and mitochondrial activity. Indirectly regulates neuronal proliferation, migration, and organization in the developing brain. {ECO:0000269|PubMed:31735293}.
uniprot
proteins
mass_dalton
34038
uniprot
proteins
mutagenesis
MUTAGEN 170; /note="C->G: Increased homodimerization even in absence of oxidative stress."; /evidence="ECO:0000269|PubMed:31735293
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12670024
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22045338
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31586943
uniprot
proteins
pubmed
31735293
uniprot
proteins
sequence_length
296
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22045338, ECO:0000269|PubMed:31735293}; Single-pass type I membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:22045338, ECO:0000269|PubMed:31735293}; Single-pass type I membrane protein {ECO:0000255}. Note=Localizes to endoplasmic reticulum mitochondria-associated membrane (MAMs) that connect the endoplasmic reticulum and the mitochondria. {ECO:0000269|PubMed:22045338, ECO:0000269|PubMed:31735293}.
uniprot
proteins
transmembrane_region
TRANSMEM 103..125; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins