InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SLC12A2

Summary

InnateDB Gene

IDBG-39694.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC12A2

Gene Name

solute carrier family 12 (sodium/potassium/chloride transporters), member 2

Synonyms

BSC; BSC2; NKCC1; PPP1R141

Species

Homo sapiens

Ensembl Gene

ENSG00000064651

Encoded Proteins

IDBP-39696

solute carrier family 12 (sodium/potassium/chloride transporters), member 2

IDBP-39700

solute carrier family 12 (sodium/potassium/chloride transporters), member 2

IDBP-479181

solute carrier family 12 (sodium/potassium/chloride transporters), member 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:128083766-128189688

Strand

Forward strand

Band

q23.3

Transcripts

ENST00000262461	ENSP00000262461
ENST00000343225	ENSP00000340878
ENST00000509205	ENSP00000427109
ENST00000504416
ENST00000509616
ENST00000507791
ENST00000502849

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	11 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008511	sodium:potassium:chloride symporter activity
GO:0008519	ammonium transmembrane transporter activity
GO:0015377	cation:chloride symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006814	sodium ion transport
GO:0006821	chloride transport
GO:0006972	hyperosmotic response
GO:0007214	gamma-aminobutyric acid signaling pathway
GO:0015696	ammonium transport
GO:0030321	transepithelial chloride transport
GO:0035264	multicellular organism growth
GO:0045795	positive regulation of cell volume
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
GO:0055085	transmembrane transport
GO:0060444	branching involved in mammary gland duct morphogenesis
GO:0060763	mammary duct terminal end bud growth
GO:0070634	transepithelial ammonium transport
GO:0072488	ammonium transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024597

View Gene Order

ENSBTAG00000009637

Not yet available

Pathways

NETPATH

NetPath_56

Prolactin pathway

REACTOME

REACT_19315

Cation-coupled Chloride cotransporters pathway

REACT_19397

Transport of inorganic cations/anions and amino acids/oligopeptides pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_19118

SLC-mediated transmembrane transport pathway

KEGG

hsa05110

Vibrio cholerae infection pathway

hsa04972

Pancreatic secretion pathway

hsa04970

Salivary secretion pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.162585 Hs.712970 Hs.713135

RefSeq

NM_001046 NM_001256461

HUGO

OMIM

CCDS

CCDS4144 CCDS58965

HPRD

06775

IMGT

EMBL

GenPept

RNA Seq Atlas