TMX2 (thioredoxin related transmembrane protein 2)

2014-11-01  

Identity

HGNC
LOCATION
11q12.1
LOCUSID
ALIAS
CGI-31,NEDMCMS,PDIA12,PIG26,TXNDC14
FUSION GENES

Other Information

Locus ID:

NCBI: 51075
MIM: 616715
HGNC: 30739
Ensembl: ENSG00000213593

Variants:

dbSNP: 51075
ClinVar: 51075
TCGA: ENSG00000213593
COSMIC: TMX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213593ENST00000278422Q9Y320
ENSG00000213593ENST00000378312Q9Y320
ENSG00000213593ENST00000524972E9PLR1
ENSG00000213593ENST00000525035G3V155
ENSG00000213593ENST00000528110E9PLR1
ENSG00000213593ENST00000529403G3V155
ENSG00000213593ENST00000530114E9PRL5
ENSG00000213593ENST00000533602E9PSF0

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
381470242023TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.0
381470242023TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer.0
315869432020Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.4
315869432020Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.4
316539232019Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-β-dependent nuclear cargo transport.3
317352932019TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.19
316539232019Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-β-dependent nuclear cargo transport.3
317352932019TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.19
220453382012Palmitoylated TMX and calnexin target to the mitochondria-associated membrane.108
220453382012Palmitoylated TMX and calnexin target to the mitochondria-associated membrane.108
126700242003Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2.13
126700242003Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2.13

Citation

Dessen P

TMX2 (thioredoxin related transmembrane protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75028/tmx2-(thioredoxin-related-transmembrane-protein-2)