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51075 TMX2

51075

TMX2

thioredoxin related transmembrane protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition thioredoxin related transmembrane protein 2

研究结论

Date Results Publications
2021-02-06 13:56:00 Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 31586943
2020-11-21 13:16:00 Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-beta-dependent nuclear cargo transport. 31653923
2020-04-04 11:37:00 TMX2 Dysfunction Causes Severe Brain Developmental Abnormalities. 31735293
2012-03-31 11:14:00 TMX2 is enriched on the mitochondria-associated membrane. Targeting TMX to the MAM requires palmitoylation of two membrane-proximal cytosolic cysteines. 22045338
2010-01-21 00:00:00 molecular cloning and characterization of one member of the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA consists of 1644 nucleotides and contains an open reading frame encoding a protein of 372 amino acids 12670024

名称对应

Type IDs
Synonymous CGI-31, PDIA12, PIG26, TXNDC14
Gene
UniProtKB-ID: TMX2_HUMAN
UniprotKB: Q9Y320
UniParc: UPI00003D2137, UPI0000048EB5
EMBL: AK075359, AY451237, BC093062, AK297688, AF132965, AY358501, BC000666, AF059753, AK223058
Ensembl: ENSG00000213593
KO: hsa:51075
Nucleutide sequences
EMBL-CDS: BAC11569.1, AAG43122.1, AAD27740.1, AAH93062.1, BAH12650.1, AAQ88865.1, BAD96778.1, AAH00666.1, AAS66642.1
Gene_ORFName: CGI-31, PIG26, PSEC0045, UNQ237/PRO270, My009
Ensembl_TRS: ENST00000278422, ENST00000378312
Protein sequencees
Ensembl_PRO: ENSP00000367562, ENSP00000278422
RefSeq: NP_001137484.1, NP_001334820.1, NP_001334827.1, NP_001334819.1, NP_001334824.1, NP_001334822.1, NP_001334823.1, NP_001334825.1, NP_057043.1, NP_001334821.1
Others
UniRef100: UniRef100_Q9Y320
UniRef90: UniRef90_Q9Y320
UniRef50: UniRef50_Q9Y320
UniGene: Hs.654965
CCDS: CCDS7967.1, CCDS44601.1

全选

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