| Tbio | H(+)/Cl(-) exchange transporter 5 |
Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Dent disease | 18 | 0.0 | 5.0 |
| Dent disease 1 | 2 | 0.0 | 0.0 |
| Familial Hypophosphatemic Rickets | 2 | 0.0 | 0.0 |
| Glioma | 74 | 0.0 | 0.0 |
| Goiter | 38 | 0.0 | 0.0 |
| Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis | 1 | 0.0 | 0.0 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure | 1 | 0.0 | 0.0 |
| Proteinuria | 144 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 5112 | 1.4e-09 |
| glioblastoma | 5792 | 7.5e-07 |
| tuberculosis | 2010 | 7.8e-07 |
| malignant mesothelioma | 3232 | 6.0e-06 |
| medulloblastoma, large-cell | 6241 | 2.6e-05 |
| primitive neuroectodermal tumor | 3035 | 1.9e-04 |
| pituitary cancer | 1972 | 5.2e-04 |
| adult high grade glioma | 3801 | 1.0e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 2.1e-03 |
| group 4 medulloblastoma | 1855 | 3.1e-03 |
| osteosarcoma | 7950 | 4.8e-03 |
| Rheumatoid arthritis | 1191 | 5.3e-03 |
| adrenocortical carcinoma | 1428 | 5.9e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 2.2e-02 |
| ovarian cancer | 8520 | 2.3e-02 |
| non primary Sjogren syndrome sicca | 891 | 2.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Calcinosis | 70 | 6.319 | 3.2 |
| Kidney disease | 430 | 5.452 | 2.7 |
| Oculocerebrorenal syndrome | 29 | 4.991 | 2.5 |
| Osteopetrosis | 43 | 3.134 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | 1.009 | 5.9e-03 |
| adult high grade glioma | 1.400 | 1.0e-03 |
| atypical teratoid / rhabdoid tumor | 2.300 | 1.4e-09 |
| glioblastoma | 1.600 | 7.5e-07 |
| group 4 medulloblastoma | 1.200 | 3.1e-03 |
| intraductal papillary-mucinous adenoma (... | 1.200 | 2.2e-02 |
| intraductal papillary-mucinous carcinoma... | 1.200 | 2.1e-03 |
| malignant mesothelioma | -1.200 | 6.0e-06 |
| medulloblastoma, large-cell | 1.900 | 2.6e-05 |
| non primary Sjogren syndrome sicca | -1.100 | 2.9e-02 |
| osteosarcoma | 2.226 | 4.8e-03 |
| ovarian cancer | 1.100 | 2.3e-02 |
| pituitary cancer | 1.100 | 5.2e-04 |
| primitive neuroectodermal tumor | 1.300 | 1.9e-04 |
| Rheumatoid arthritis | 2.000 | 5.3e-03 |
| tuberculosis | 1.200 | 7.8e-07 |
MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGS 1 - 70 LAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNY 71 - 140 FMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGK 141 - 210 EGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR 211 - 280 SFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT 281 - 350 QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPA 351 - 420 GVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWC 421 - 490 SQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDA 491 - 560 HIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQR 561 - 630 LVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVV 631 - 700 DIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN 701 - 746 //
