Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments
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
MIRT1351880	hsa-miR-3646	CLIP-seq
MIRT1351881	hsa-miR-3662	CLIP-seq
MIRT1351882	hsa-miR-433	CLIP-seq
MIRT1351883	hsa-miR-4424	CLIP-seq
MIRT1351884	hsa-miR-4742-3p	CLIP-seq
MIRT1351885	hsa-miR-548c-3p	CLIP-seq
MIRT1351886	hsa-miR-561	CLIP-seq
MIRT1351887	hsa-miR-876-3p	CLIP-seq
MIRT2104285	hsa-miR-1305	CLIP-seq
MIRT1351876	hsa-miR-23a	CLIP-seq
MIRT1351877	hsa-miR-23b	CLIP-seq
MIRT1351878	hsa-miR-23c	CLIP-seq
MIRT2104286	hsa-miR-944	CLIP-seq
MIRT2104285	hsa-miR-1305	CLIP-seq
MIRT1351876	hsa-miR-23a	CLIP-seq
MIRT1351877	hsa-miR-23b	CLIP-seq
MIRT1351878	hsa-miR-23c	CLIP-seq
MIRT2104286	hsa-miR-944	CLIP-seq
MIRT2394603	hsa-miR-1231	CLIP-seq
MIRT2394604	hsa-miR-4288	CLIP-seq
MIRT2394605	hsa-miR-4434	CLIP-seq
MIRT2394606	hsa-miR-4516	CLIP-seq
MIRT2394607	hsa-miR-4531	CLIP-seq
MIRT2394608	hsa-miR-516b	CLIP-seq
MIRT2394609	hsa-miR-632	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Ion transport	TAS
GO:0006884	Process	Cell volume homeostasis	IBA	21873635
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA	21873635
GO:0015379	Function	Potassium:chloride symporter activity	IBA	21873635
GO:0016020	Component	Membrane	TAS	7929272
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0055064	Process	Chloride ion homeostasis	IBA	21873635
GO:0055075	Process	Potassium ion homeostasis	IBA	21873635
GO:0055078	Process	Sodium ion homeostasis	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289, 21082674
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635

MIM	HGNC	e!Ensembl
600839	10910	ENSG00000074803

Protein

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

	Reactome
			Cation-coupled Chloride cotransporters Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Bartter syndrome	Bartter Disease, Bartter syndrome, antenatal type 1	rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134 View all (58 more)	10561751, 16807401, 9585600, 12761241, 17998760, 8640224, 20219833, 28095294
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Antenatal bartter syndrome	Antenatal Bartter syndrome	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus	GWAS

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Dwarfism Pituitary	Associate	25157616
Esophageal Squamous Cell Carcinoma	Associate	24944475
Gitelman Syndrome	Associate	32506365
Glioma	Associate	24555568
Hyperparathyroidism Neonatal Severe Primary	Associate	26963954
Hypertension	Associate	18391953, 30113482, 30248150
Hypotension	Associate	30113482
Kidney Diseases	Associate	33095447, 36361553
Multiple System Atrophy	Associate	27900370
Neoplasms	Associate	20420713, 25165391
Nephrocalcinosis	Associate	17998760, 28893421
Nephrolithiasis	Associate	28893421
Pre Eclampsia	Associate	30248150
Retinitis Pigmentosa	Associate	27297950
Sleep Initiation and Maintenance Disorders	Associate	33530007
Stomach Neoplasms	Associate	17052386
Urinary Retention	Associate	23387299
Wilms Tumor	Associate	37904849

SLC12A1 (solute carrier family 12 member 1)