Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51075
Gene name Gene Name - the full gene name approved by the HGNC.
Thioredoxin related transmembrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMX2
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDMCMS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically ac
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052549 hsa-let-7a-5p CLASH 23622248
MIRT048152 hsa-miR-196a-5p CLASH 23622248
MIRT038472 hsa-miR-296-3p CLASH 23622248
MIRT645114 hsa-miR-605-5p HITS-CLIP 23824327
MIRT645113 hsa-miR-4733-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31735293, 32296183
GO:0005739 Component Mitochondrion IMP 31735293
GO:0005789 Component Endoplasmic reticulum membrane IDA 31735293
GO:0007420 Process Brain development IBA 21873635
GO:0007420 Process Brain development IMP 31735293
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616715 30739 ENSG00000213593
Protein
UniProt ID Q9Y320
Protein name Thioredoxin-related transmembrane protein 2 (Cell proliferation-inducing gene 26 protein) (Thioredoxin domain-containing protein 14)
Protein 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 regula
PDB 2DJ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 137 242 Thioredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12670024}.
Sequence
MAVLAPLIALVYSVPRLSRWLAQPYYLLSALLSAAFLLVRKLPPLCHGLPTQREDGNPCD
FDWREVEILMFLSAIVMMKNRRSITVEQHIGNIFMFSKVANTILFFRLDIRMGLLYITLC
IVFLMTCKPPLYMGPEYIKYFNDKTIDEELERDKRVTWIVEFFANWSNDCQSFAPIYADL
SLKYNCTGLNFGKVDVGRYTDVSTRYKVSTSPLTKQLPTLILFQGGKEAMRRPQIDKKGR
AV
SWTFSEENVIREFNLNELYQRAKKLSKAGDNIPEEQPVASTPTTVSDGENKKDK
Sequence length 296
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31270415
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31270415
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
31270415
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
28540026, 29483656
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 31735293
Carcinoma Hepatocellular Associate 38147024
Disease Associate 31586943
Drug Related Side Effects and Adverse Reactions Associate 31586943
Microcephaly Associate 31586943, 31735293
Neurologic Manifestations Associate 31735293