SLC12A2 (solute carrier family 12 member 2)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6558 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Solute carrier family 12 member 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SLC12A2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BSC, BSC-2, BSC2, CCC1, KILQS, NKCC1, PPP1R141, hNKCC1 |
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Chromosome
Chromosome number
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5 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q23.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA dam |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||
| UniProt ID | P55011 | ||||||||||||||||||||
| Protein name | Solute carrier family 12 member 2 (Basolateral Na-K-Cl symporter) (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2) (BSC2) (Na-K-2Cl cotransporter 1) (hNKCC1) | ||||||||||||||||||||
| Protein function | Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597714, PubMed:35585053, PubMed:36239040, PubMed | ||||||||||||||||||||
| PDB | 6PZT , 7D10 , 7MXO , 7N3N , 7S1X , 7S1Y , 7S1Z , 7SFL , 7SMP , 7ZGO , 8STE , 9C0E , 9C0G , 9C0H | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:7629105}. | ||||||||||||||||||||
| Sequence | |||||||||||||||||||||
| Sequence length | 1212 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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