SLC12A1 (solute carrier family 12 member 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6557
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 12 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC12A1
Synonyms (NCBI Gene) Gene synonyms aliases
BSC, BSC-1, BSC1, CCC2, NKCC2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle`s loop and the macula densa. It plays a key role in concentrating urine an
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs34819316 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs142646329 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs779588655 T>- Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs1057519608 G>- Pathogenic Coding sequence variant, frameshift variant
rs1057520300 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(30)
miRTarBase ID miRNA Experiments Reference
MIRT1351875 hsa-miR-2052 CLIP-seq
MIRT1351876 hsa-miR-23a CLIP-seq
MIRT1351877 hsa-miR-23b CLIP-seq
MIRT1351878 hsa-miR-23c CLIP-seq
MIRT1351879 hsa-miR-323-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 7929272
GO:0006811 Process Monoatomic ion transport IEA
GO:0006811 Process Monoatomic ion transport TAS
GO:0006813 Process Potassium ion transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600839 10910 ENSG00000074803
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13621
Protein name Solute carrier family 12 member 1 (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1) (BSC1) (Kidney-specific Na-K-Cl symporter) (Na-K-2Cl cotransporter 2) (NKCC2)
Protein function Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). Electrically
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08403 AA_permease_N 90 → 157 Amino acid permease N-terminal Family
PF00324 AA_permease 182 → 686 Amino acid permease Family
PF03522 SLC12 694 → 1099 Solute carrier family 12 Family
Tissue specificity TISSUE SPECIFICITY: Kidney; localizes to the thick ascending limbs (at protein level). {ECO:0000269|PubMed:29993276}.
Sequence 
MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
LPPVLLVRGNHKNVLTFYS
Sequence length 1099
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Cation-coupled Chloride cotransporters
Defective SLC12A1 causes Bartter syndrome 1 (BS1)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bartter syndrome Bartter disease type 1 rs779588655, rs1057520300, rs1057520301, rs1057520302, rs1057520303, rs137853158, rs1057520304, rs137853159, rs1555466999, rs774515747, rs1566857461, rs1057519608, rs764247288, rs765347751, rs865973286
View all (2 more)		 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 36285332
Adenoma Associate 28544176, 37074453
Bartter Syndrome Associate 12472765, 12589089, 12911530, 15287206, 17998760, 21631963, 26963954, 28000888, 33607471, 35348259, 36305432, 37537162
Bartter syndrome antenatal type 1 Associate 26963954
Bartter syndrome type 3 Associate 19056867, 34461850, 36361553
Bloom Syndrome Associate 32506365
Breast Neoplasms Associate 38003293
Carcinoma Renal Cell Associate 26831905, 27766950, 39348357
Colorectal Neoplasms Associate 25165391
Disease Associate 18391953