| Tbio | Thiamine transporter 2 |
Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Basal Ganglia Diseases | 14 | 0.0 | 0.0 |
| Basal ganglia disease, biotin-responsive | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Leigh disease | 100 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 2.2e-20 |
| non-small cell lung cancer | 2890 | 5.8e-13 |
| lung adenocarcinoma | 2716 | 3.3e-11 |
| ovarian cancer | 8520 | 2.9e-08 |
| colon cancer | 1478 | 1.8e-06 |
| ductal carcinoma in situ | 1745 | 2.2e-04 |
| invasive ductal carcinoma | 2951 | 6.6e-04 |
| lung cancer | 4740 | 5.7e-03 |
| breast carcinoma | 1638 | 7.1e-03 |
| fibroadenoma | 559 | 1.4e-02 |
| active Crohn's disease | 922 | 2.0e-02 |
| active ulcerative colitis | 764 | 2.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Type 2 diabetes mellitus | 272 | 0.0 | 0.8 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| biotin-responsive basal ganglia disease | 8 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Beriberi | 12 | 4.095 | 2.0 |
| Brain disease | 96 | 3.843 | 1.9 |
| Biotin deficiency | 10 | 3.611 | 1.8 |
| Megaloblastic anemia | 18 | 3.61 | 1.8 |
| Pyruvate decarboxylase deficiency | 16 | 3.023 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | -1.136 | 2.0e-02 |
| active ulcerative colitis | -1.239 | 2.7e-02 |
| breast carcinoma | -1.700 | 7.1e-03 |
| colon cancer | -2.900 | 1.8e-06 |
| ductal carcinoma in situ | -3.900 | 2.2e-04 |
| fibroadenoma | -2.600 | 1.4e-02 |
| invasive ductal carcinoma | -4.400 | 6.6e-04 |
| lung adenocarcinoma | -1.900 | 3.3e-11 |
| lung cancer | -1.600 | 5.7e-03 |
| lung carcinoma | -3.000 | 2.2e-20 |
| non-small cell lung cancer | -1.369 | 5.8e-13 |
| ovarian cancer | -1.200 | 2.9e-08 |
MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPV 1 - 70 FVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVS 71 - 140 GYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKS 141 - 210 SSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFY 211 - 280 WSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALV 281 - 350 VFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTI 351 - 420 MTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNI 421 - 490 IMSTKL 491 - 496 //
