Human Gene SLC12A5 (ENST00000454036.6) from GENCODE V44
Description: Homo sapiens solute carrier family 12 member 5 (SLC12A5), transcript variant 1, mRNA. (from RefSeq NM_001134771) RefSeq Summary (NM_001134771): 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]. Gencode Transcript: ENST00000454036.6 Gencode Gene: ENSG00000124140.15 Transcript (Including UTRs) Position: hg38 chr20:46,021,690-46,057,702 Size: 36,013 Total Exon Count: 26 Strand: + Coding Region Position: hg38 chr20:46,021,766-46,057,605 Size: 35,840 Coding Exon Count: 26
ID:S12A5_HUMAN DESCRIPTION: RecName: Full=Solute carrier family 12 member 5; AltName: Full=Electroneutral potassium-chloride cotransporter 2; AltName: Full=K-Cl cotransporter 2; Short=hKCC2; AltName: Full=Neuronal K-Cl cotransporter; FUNCTION: Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons. ENZYME REGULATION: Inhibited by WNK3. SUBUNIT: Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Brain specific. Detected in neuronal cells. MISCELLANEOUS: Inhibited by furosemide and bumetanide. SIMILARITY: Belongs to the SLC12A transporter family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H2X9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KC295693 - Homo sapiens KCC2 transcript variant 1 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295694 - Homo sapiens KCC2 transcript variant 2 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295695 - Homo sapiens KCC2 transcript variant 3 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295696 - Homo sapiens KCC2 transcript variant 4 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295697 - Homo sapiens KCC2 transcript variant 5 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295698 - Homo sapiens KCC2 transcript variant 6 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295699 - Homo sapiens KCC2 transcript variant 7 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295700 - Homo sapiens KCC2 transcript variant 8 (SLC12A5) mRNA, complete cds, alternatively spliced. KC295701 - Homo sapiens KCC2 transcript variant 9 (SLC12A5) mRNA, complete cds, alternatively spliced. AK098371 - Homo sapiens cDNA FLJ25505 fis, clone CBR04623, highly similar to K-Cl cotransport protein 2, furosemide-sensitive. AK289758 - Homo sapiens cDNA FLJ75342 complete cds, highly similar to Homo sapiens solute carrier family 12, (potassium-chloride transporter) member 5 (SLC12A5), mRNA. AK296331 - Homo sapiens cDNA FLJ59167 complete cds, highly similar to Solute carrier family 12 member 5. AK294059 - Homo sapiens cDNA FLJ58455 complete cds, highly similar to Solute carrier family 12 member 5. BC132668 - Homo sapiens solute carrier family 12 (potassium-chloride transporter), member 5, mRNA (cDNA clone MGC:164299 IMAGE:40146690), complete cds. BC132670 - Homo sapiens solute carrier family 12 (potassium-chloride transporter), member 5, mRNA (cDNA clone MGC:164301 IMAGE:40146692), complete cds. AK295096 - Homo sapiens cDNA FLJ57980 complete cds, highly similar to Solute carrier family 12 member 5. AF208159 - Homo sapiens electroneutral potassium-chloride cotransporter KCC2 (KCC2) mRNA, complete cds. AB033002 - Homo sapiens mRNA for KIAA1176 protein, partial cds. AK295900 - Homo sapiens cDNA FLJ56812 complete cds, highly similar to Solute carrier family 12 member 5. JD320293 - Sequence 301317 from Patent EP1572962. JD129616 - Sequence 110640 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9H2X9 (Reactome details) participates in the following event(s):
R-HSA-426155 SLC12A4,5,6,7 cotransport K+, Cl- from cytosol to extracellular region R-HSA-426117 Cation-coupled Chloride cotransporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
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