• Gene id: 57468

Gene Summary

• Gene Symbol: SLC12A5   Gene   UCSC   Ensembl
• Aliases: EIEE34, EIG14, KCC2, hKCC2
• Gene name: solute carrier family 12 member 5
• Alternate names: solute carrier family 12 member 5, K-Cl cotransporter 2, electroneutral potassium-chloride cotransporter 2, erythroid K-Cl cotransporter 2, neuronal K-Cl cotransporter, solute carrier family 12 (potassium/chloride transporter), member 5,
• Gene location: 20q13.12 (46021685: 46060149)     Exons: 27     NC_000020.11
• Gene summary(Entrez): K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or infl
• OMIM: 614161

Protein Summary

• Protein general information: Q9H2X9  
  • Name: Solute carrier family 12 member 5 (Electroneutral potassium chloride cotransporter 2) (K Cl cotransporter 2) (hKCC2) (Neuronal K Cl cotransporter)
  • Length: 1139  
  • Mass: 126184
  • Tissue specificity: Brain specific. Detected in neuronal cells.
• Sequence:

  MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKGKEYDGKNMALFEEEM
  DTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILFLRLTWVVGIA
  GIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEI
  LLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKS
  AFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTRNNVTEIQGIPGAASG
  LIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMTSYFTLLVGIYFPSVTGIMAGSNRSGDLRDA
  QKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQS
  LTGAPRLLQAISRDGIVPFLQVFGHGKANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACA
  VQTLLRTPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSA
  ARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEE
  SIRRLMEAEKVKGFCQVVISSNLRDGVSHLIQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGH
  LALLVTKNVSMFPGNPERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTT
  FLYHLRITAEVEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDESRGSIRRKNPANTRLR
  LNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSE
  GIKDFFSMKPEWENLNQSNVRRMHTAVRLNEVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHLDRVM
  LVRGGGREVITIYS

• Structural information:
  • Interpro: IPR004841  IPR030358  IPR000076  IPR018491  IPR004842  
  • STRING: ENSP00000387694
• Other Databases: GeneCards:  SLC12A5  Malacards:  SLC12A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071944	cell periphery	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0071944	cell periphery	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
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:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0006884	cell volume homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0030644	cellular chloride ion homeostasis	IDA	biological process
GO:0015108	chloride transmembrane transporter activity	IDA	molecular function
GO:0060996	dendritic spine development	IDA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0015379	potassium:chloride symporter activity	IEA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
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:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0015379	potassium:chloride symporter activity	IEA	molecular function
GO:0040040	thermosensory behavior	IEA	biological process
GO:0071944	cell periphery	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006873	cellular ion homeostasis	IDA	biological process
GO:0015379	potassium:chloride symporter activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0006811	ion transport	IDA	biological process
GO:0006971	hypotonic response	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Idiopathic generalized epilepsies	KEGG:H00808
Early infantile epileptic encephalopathy	KEGG:H00606
Idiopathic generalized epilepsies	KEGG:H00808
Malignant migrating partial seizures in infancy	KEGG:H01815
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq