Details for: TMX2

Gene ID: 51075

Symbol: TMX2

Ensembl ID: ENSG00000213593

Description: thioredoxin related transmembrane protein 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 201.9348
    Cell Significance Index: -31.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 121.7654
    Cell Significance Index: -30.8900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 90.3756
    Cell Significance Index: -37.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 79.2167
    Cell Significance Index: -37.4000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 75.1002
    Cell Significance Index: -30.5100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 67.2259
    Cell Significance Index: -34.5800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 55.9147
    Cell Significance Index: -37.5200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 31.9981
    Cell Significance Index: -30.5500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.2687
    Cell Significance Index: -37.3200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.2432
    Cell Significance Index: -27.4400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.7059
    Cell Significance Index: -38.3000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.4646
    Cell Significance Index: 287.2200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1661
    Cell Significance Index: 233.9100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0900
    Cell Significance Index: 29.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.0584
    Cell Significance Index: 55.5700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9686
    Cell Significance Index: 61.0500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8953
    Cell Significance Index: 61.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7950
    Cell Significance Index: 109.1700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7541
    Cell Significance Index: 20.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7071
    Cell Significance Index: 127.4700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6678
    Cell Significance Index: 34.6900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6510
    Cell Significance Index: 6.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6410
    Cell Significance Index: 78.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6375
    Cell Significance Index: 575.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6253
    Cell Significance Index: 224.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5704
    Cell Significance Index: 26.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.5697
    Cell Significance Index: 14.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5583
    Cell Significance Index: 41.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5426
    Cell Significance Index: 69.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5415
    Cell Significance Index: 295.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5139
    Cell Significance Index: 39.4400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4676
    Cell Significance Index: 26.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.4645
    Cell Significance Index: 133.6500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4555
    Cell Significance Index: 201.3900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4228
    Cell Significance Index: 54.6300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4161
    Cell Significance Index: 41.1600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4031
    Cell Significance Index: 28.5100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3914
    Cell Significance Index: 8.4800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3873
    Cell Significance Index: 4.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3484
    Cell Significance Index: 15.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3392
    Cell Significance Index: 15.9400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3312
    Cell Significance Index: 11.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3202
    Cell Significance Index: 20.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2360
    Cell Significance Index: 11.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1912
    Cell Significance Index: 11.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1796
    Cell Significance Index: 34.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0881
    Cell Significance Index: 15.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0609
    Cell Significance Index: 1.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0416
    Cell Significance Index: 1.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0236
    Cell Significance Index: 0.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0186
    Cell Significance Index: 14.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0184
    Cell Significance Index: 2.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0082
    Cell Significance Index: 6.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0099
    Cell Significance Index: -0.2100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0204
    Cell Significance Index: -38.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0224
    Cell Significance Index: -2.6400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0228
    Cell Significance Index: -0.7300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0235
    Cell Significance Index: -43.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0240
    Cell Significance Index: -1.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0282
    Cell Significance Index: -43.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0292
    Cell Significance Index: -21.6600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0311
    Cell Significance Index: -0.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0320
    Cell Significance Index: -43.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0326
    Cell Significance Index: -3.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0518
    Cell Significance Index: -32.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0551
    Cell Significance Index: -31.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0711
    Cell Significance Index: -44.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0743
    Cell Significance Index: -2.8200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0802
    Cell Significance Index: -36.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0902
    Cell Significance Index: -9.8100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1155
    Cell Significance Index: -2.9500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1312
    Cell Significance Index: -1.4900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1572
    Cell Significance Index: -1.2600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1598
    Cell Significance Index: -4.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1678
    Cell Significance Index: -19.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1903
    Cell Significance Index: -37.7700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1920
    Cell Significance Index: -40.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2484
    Cell Significance Index: -36.1100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2693
    Cell Significance Index: -7.0800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2785
    Cell Significance Index: -3.8000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2964
    Cell Significance Index: -6.4900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3467
    Cell Significance Index: -4.3000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3639
    Cell Significance Index: -9.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3741
    Cell Significance Index: -38.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3779
    Cell Significance Index: -29.9300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4236
    Cell Significance Index: -5.0500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4257
    Cell Significance Index: -8.9100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4363
    Cell Significance Index: -10.0800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4549
    Cell Significance Index: -13.4000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4574
    Cell Significance Index: -28.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4821
    Cell Significance Index: -14.1600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5019
    Cell Significance Index: -8.8700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5076
    Cell Significance Index: -26.4400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5316
    Cell Significance Index: -4.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5772
    Cell Significance Index: -38.8100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.6511
    Cell Significance Index: -6.7400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6736
    Cell Significance Index: -4.0700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.6973
    Cell Significance Index: -28.5700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7337
    Cell Significance Index: -12.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7821
    Cell Significance Index: -28.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TMX2 is a transmembrane protein with a thioredoxin-related domain, which suggests its involvement in redox regulation and antioxidant defense mechanisms. Its expression is widespread, with significant levels detected in hematopoietic cells, stem cells, and various epithelial tissues. The protein's subcellular localization is primarily restricted to the endoplasmic reticulum (ER) and mitochondria-associated ER membrane contact sites (MAM), where it may play a crucial role in maintaining ER homeostasis and regulating mitochondrial function. **Pathways and Functions:** TMX2 is implicated in several cellular processes, including: 1. **Disulfide Oxidoreductase Activity:** TMX2's thioredoxin-related domain enables it to catalyze the reduction of disulfide bonds, thereby regulating the activity of various proteins involved in cellular signaling and homeostasis. 2. **Endoplasmic Reticulum Homeostasis:** TMX2's presence in the ER and MAM suggests its involvement in maintaining ER calcium homeostasis and regulating the activity of ER-resident proteins. 3. **Mitochondrial Function:** TMX2's localization to the mitochondrial outer membrane and MAM may contribute to regulating mitochondrial dynamics, function, and biogenesis. 4. **Protein Binding:** TMX2 interacts with a range of proteins, including those involved in immune cell function, cellular signaling, and tissue homeostasis. **Clinical Significance:** TMX2's dysregulation has been implicated in various diseases, including: 1. **Autoimmune Disorders:** TMX2's role in regulating immune cell function and tissue homeostasis may contribute to the development of autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** TMX2's involvement in cellular signaling and homeostasis may also contribute to cancer progression, particularly in hematological malignancies. 3. **Neurological Disorders:** TMX2's expression in the brain and its potential role in regulating neuronal function and homeostasis may contribute to the development of neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, TMX2 is a multifunctional protein that plays a critical role in regulating cellular processes, particularly those related to immune cell function and tissue homeostasis. Further research is necessary to elucidate the mechanisms by which TMX2 regulates these processes and to explore its clinical significance in human health and disease.

Genular Protein ID: 3876546774

Symbol: TMX2_HUMAN

Name: Thioredoxin-related transmembrane protein 2

UniProtKB Accession Codes:

Q9Y320 B7Z4R4 Q53G73 Q561W0 Q5J7Q7 Q8NBP9 Q9H3L1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12670024

Title: Cloning and identification of a novel cDNA coding thioredoxin-related transmembrane protein 2.

PubMed ID: 12670024

DOI: 10.1023/a:1022073917044

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22045338

Title: Palmitoylated TMX and calnexin target to the mitochondria-associated membrane.

PubMed ID: 22045338

DOI: 10.1038/emboj.2011.384

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 31735293

Title: TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities.

PubMed ID: 31735293

DOI: 10.1016/j.ajhg.2019.10.009

PubMed ID: 31586943

Title: Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

PubMed ID: 31586943

DOI: 10.1136/jmedgenet-2019-106409

Sequence Information:

  • Length: 296
  • Mass: 34038
  • Checksum: D646B16B3A5F0C6D
  • Sequence:
    • MAVLAPLIAL VYSVPRLSRW LAQPYYLLSA LLSAAFLLVR KLPPLCHGLP TQREDGNPCD 
FDWREVEILM FLSAIVMMKN RRSITVEQHI GNIFMFSKVA NTILFFRLDI RMGLLYITLC 
IVFLMTCKPP LYMGPEYIKY FNDKTIDEEL ERDKRVTWIV EFFANWSNDC QSFAPIYADL 
SLKYNCTGLN FGKVDVGRYT DVSTRYKVST SPLTKQLPTL ILFQGGKEAM RRPQIDKKGR 
AVSWTFSEEN VIREFNLNEL YQRAKKLSKA GDNIPEEQPV ASTPTTVSDG ENKKDK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.