| Tbio | Solute carrier family 12 member 5 |
Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
Comments
| Disease | Target Count |
|---|---|
| Schizophrenia | 1160 |
| Mood Disorders | 184 |
| Disease | Target Count | P-value |
|---|---|---|
| Astrocytoma, Pilocytic | 3081 | 1.1e-14 |
| glioblastoma | 5792 | 8.1e-12 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.1e-10 |
| adult high grade glioma | 3801 | 2.8e-10 |
| ovarian cancer | 8520 | 5.1e-10 |
| group 3 medulloblastoma | 4104 | 2.9e-09 |
| medulloblastoma, large-cell | 6241 | 3.0e-08 |
| pituitary cancer | 1972 | 7.8e-07 |
| ependymoma | 4679 | 9.0e-04 |
| primitive neuroectodermal tumor | 3035 | 1.1e-03 |
| astrocytic glioma | 2597 | 4.5e-03 |
| subependymal giant cell astrocytoma | 2287 | 1.7e-02 |
| oligodendroglioma | 2850 | 2.1e-02 |
| Pick disease | 1894 | 3.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autistic Disorder | 364 | 3.421 | 1.7 |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 | 3.388 | 1.7 |
| Disease | Target Count |
|---|---|
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 | 1 |
| Temporal lobe epilepsy | 7 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -4.100 | 2.8e-10 |
| astrocytic glioma | -2.900 | 4.5e-03 |
| Astrocytoma, Pilocytic | -5.900 | 1.1e-14 |
| atypical teratoid / rhabdoid tumor | -4.700 | 1.1e-10 |
| ependymoma | -4.500 | 9.0e-04 |
| glioblastoma | -4.900 | 8.1e-12 |
| group 3 medulloblastoma | -4.700 | 2.9e-09 |
| medulloblastoma, large-cell | -4.600 | 3.0e-08 |
| oligodendroglioma | -2.400 | 2.1e-02 |
| ovarian cancer | 1.900 | 5.1e-10 |
| Pick disease | -1.800 | 3.0e-02 |
| pituitary cancer | 2.200 | 7.8e-07 |
| primitive neuroectodermal tumor | -3.400 | 1.1e-03 |
| subependymal giant cell astrocytoma | -4.225 | 1.7e-02 |
MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKGKEYDGKNMAL 1 - 70 FEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILF 71 - 140 LRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLG 141 - 210 TTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFAL 211 - 280 VFLGCVILSILAIYAGVIKSAFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFL 281 - 350 NATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT 351 - 420 SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFG 421 - 490 EAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHGKANGEPTWA 491 - 560 LLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLRTPNWRPRFRYYHWTLSFLGMSLCL 561 - 630 ALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVL 631 - 700 VRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVIS 701 - 770 SNLRDGVSHLIQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN 771 - 840 PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTTFLYHLRITAE 841 - 910 VEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPE 911 - 980 ETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSE 981 - 1050 GIKDFFSMKPEWENLNQSNVRRMHTAVRLNEVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEH 1051 - 1120 LDRVMLVRGGGREVITIYS 1121 - 1139 //
