• Gene id: 6558

Gene Summary

• Gene Symbol: SLC12A2   Gene   UCSC   Ensembl
• Aliases: BSC, BSC2, NKCC1, PPP1R141
• Gene name: solute carrier family 12 member 2
• Alternate names: solute carrier family 12 member 2, basolateral Na-K-Cl symporter, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2, protein phosphatase 1, regulatory subunit 141, solute carrier ,
• Gene location: 5q23.3 (128083765: 128189676)     Exons: 29     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 600840

Protein Summary

• Protein general information: P55011  
  • Name: Solute carrier family 12 member 2 (Basolateral Na K Cl symporter) (Bumetanide sensitive sodium (potassium) chloride cotransporter 2)
  • Length: 1212  
  • Mass: 131447
  • Tissue specificity: Expressed in many tissues.
• Sequence:

  MEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPT
  PSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPAASS
  SAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRID
  HYRHTAAQLGEKLLRPSLAELHDELEKEPFEDGFANGEESTPTRDAVVTYTAESKGVVKFGWIKGVLVRCMLNIW
  GVMLFIRLSWIVGQAGIGLSVLVIMMATVVTTITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGAIGLIFAFA
  NAVAVAMYVVGFAETVVELLKEHSILMIDEINDIRIIGAITVVILLGISVAGMEWEAKAQIVLLVILLLAIGDFV
  IGTFIPLESKKPKGFFGYKSEIFNENFGPDFREEETFFSVFAIFFPAATGILAGANISGDLADPQSAIPKGTLLA
  ILITTLVYVGIAVSVGSCVVRDATGNVNDTIVTELTNCTSAACKLNFDFSSCESSPCSYGLMNNFQVMSMVSGFT
  PLISAGIFSATLSSALASLVSAPKIFQALCKDNIYPAFQMFAKGYGKNNEPLRGYILTFLIALGFILIAELNVIA
  PIISNFFLASYALINFSVFHASLAKSPGWRPAFKYYNMWISLLGAILCCIVMFVINWWAALLTYVIVLGLYIYVT
  YKKPDVNWGSSTQALTYLNALQHSIRLSGVEDHVKNFRPQCLVMTGAPNSRPALLHLVHDFTKNVGLMICGHVHM
  GPRRQAMKEMSIDQAKYQRWLIKNKMKAFYAPVHADDLREGAQYLMQAAGLGRMKPNTLVLGFKKDWLQADMRDV
  DMYINLFHDAFDIQYGVVVIRLKEGLDISHLQGQEELLSSQEKSPGTKDVVVSVEYSKKSDLDTSKPLSEKPITH
  KVEEEDGKTATQPLLKKESKGPIVPLNVADQKLLEASTQFQKKQGKNTIDVWWLFDDGGLTLLIPYLLTTKKKWK
  DCKIRVFIGGKINRIDHDRRAMATLLSKFRIDFSDIMVLGDINTKPKKENIIAFEEIIEPYRLHEDDKEQDIADK
  MKEDEPWRITDNELELYKTKTYRQIRLNELLKEHSSTANIIVMSLPVARKGAVSSALYMAWLEALSKDLPPILLV
  RGNHQSVLTFYS

• Structural information:
  • Interpro: IPR004841  IPR013612  IPR002444  IPR018491  IPR002443   IPR004842  
  • DIP: 43979
  • STRING: ENSP00000262461
• Other Databases: GeneCards:  SLC12A2  Malacards:  SLC12A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098659	inorganic cation import across plasma membrane	IDA	biological process
GO:0098659	inorganic cation import across plasma membrane	IDA	biological process
GO:0071944	cell periphery	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	is active in
GO:0009925	basal plasma membrane	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0015377	cation:chloride symporter activity	IDA	molecular function
GO:0046873	metal ion transmembrane transporter activity	IDA	molecular function
GO:0046873	metal ion transmembrane transporter activity	IDA	molecular function
GO:0043025	neuronal cell body	IDA	cellular component
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0051087	chaperone binding	IPI	molecular function
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0015079	potassium ion transmembrane transporter activity	ISS	molecular function
GO:1904464	regulation of matrix metallopeptidase secretion	ISS	biological process
GO:0006883	cellular sodium ion homeostasis	ISS	biological process
GO:0006884	cell volume homeostasis	TAS	biological process
GO:0006884	cell volume homeostasis	ISS	biological process
GO:0006884	cell volume homeostasis	ISS	biological process
GO:1902476	chloride transmembrane transport	ISS	biological process
GO:1902476	chloride transmembrane transport	NAS	biological process
GO:0150003	regulation of spontaneous synaptic transmission	ISS	biological process
GO:0150003	regulation of spontaneous synaptic transmission	ISS	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	ISS	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	ISS	biological process
GO:1904450	positive regulation of aspartate secretion	ISS	biological process
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0150003	regulation of spontaneous synaptic transmission	ISS	biological process
GO:0150003	regulation of spontaneous synaptic transmission	ISS	biological process
GO:0098719	sodium ion import across plasma membrane	ISS	biological process
GO:0071944	cell periphery	ISS	cellular component
GO:0071944	cell periphery	ISS	cellular component
GO:0044298	cell body membrane	TAS	cellular component
GO:0098658	inorganic anion import across plasma membrane	ISS	biological process
GO:0042995	cell projection	ISS	cellular component
GO:0044297	cell body	ISS	cellular component
GO:0031253	cell projection membrane	TAS	cellular component
GO:0035633	maintenance of blood-brain barrier	TAS	biological process
GO:0035633	maintenance of blood-brain barrier	ISS	biological process
GO:0089717	spanning component of membrane	RCA	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0035865	cellular response to potassium ion	ISS	biological process
GO:0035865	cellular response to potassium ion	ISS	biological process
GO:0061044	negative regulation of vascular wound healing	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0030644	cellular chloride ion homeostasis	ISS	biological process
GO:0030644	cellular chloride ion homeostasis	TAS	biological process
GO:0030007	cellular potassium ion homeostasis	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0055075	potassium ion homeostasis	IBA	biological process
GO:0055064	chloride ion homeostasis	IBA	biological process
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0015696	ammonium transport	IBA	biological process
GO:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0015081	sodium ion transmembrane transporter activity	IBA	molecular function
GO:0008519	ammonium transmembrane transporter activity	IBA	molecular function
GO:0006884	cell volume homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0055078	sodium ion homeostasis	IBA	biological process
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0015378	sodium:chloride symporter activity	IBA	molecular function
GO:0008511	sodium:potassium:chloride symporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015377	cation:chloride symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0008511	sodium:potassium:chloride symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0006972	hyperosmotic response	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0150003	regulation of spontaneous synaptic transmission	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0008511	sodium:potassium:chloride symporter activity	IEA	molecular function
GO:0045795	positive regulation of cell volume	IEA	biological process
GO:1990869	cellular response to chemokine	IMP	biological process
GO:0010818	T cell chemotaxis	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0072488	ammonium transmembrane transport	IEA	biological process
GO:0072488	ammonium transmembrane transport	IEA	biological process
GO:0072488	ammonium transmembrane transport	IEA	biological process
GO:0070634	transepithelial ammonium transport	IDA	biological process
GO:0030321	transepithelial chloride transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0015696	ammonium transport	IDA	biological process
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
Cerebral infarction	PMID:27798271
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R