| Tchem | Chloride channel protein ClC-Kb |
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bartter Syndrome | 4 | 0.0 | 0.0 |
| Bartter Syndrome, Type 4B | 2 | 0.0 | 0.0 |
| Bartter syndrome, type 3 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 9.5e-13 |
| pituitary cancer | 1972 | 2.0e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nephrocalcinosis | 35 | 4.796 | 2.4 |
| Dent disease | 18 | 4.294 | 2.1 |
| Nephrolithiasis | 56 | 3.605 | 1.8 |
| Sensorineural hearing loss | 106 | 3.393 | 1.7 |
| Chondrocalcinosis | 9 | 3.105 | 1.6 |
| Pseudohypoaldosteronism | 23 | 3.042 | 1.5 |
| Disease | Target Count |
|---|---|
| Bartter disease | 13 |
| Gitelman syndrome | 6 |
| Bartter disease type 4a | 3 |
| Disease | log2 FC | p |
|---|---|---|
| pituitary cancer | 1.400 | 2.0e-03 |
| psoriasis | -1.200 | 9.5e-13 |
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLA 1 - 70 VESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLD 71 - 140 IKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA 141 - 210 TVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLP 211 - 280 EIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLAS 281 - 350 RLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP 351 - 420 MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFE 421 - 490 VTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK 491 - 560 DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEP 561 - 630 VTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK 631 - 687 //
