• Gene id: 9990

Gene Summary

• Gene Symbol: SLC12A6   Gene   UCSC   Ensembl
• Aliases: ACCPN, KCC3, KCC3A, KCC3B
• Gene name: solute carrier family 12 member 6
• Alternate names: solute carrier family 12 member 6, K-Cl cotransporter 3, electroneutral potassium-chloride cotransporter 3, potassium chloride cotransporter 3, potassium chloride cotransporter KCC3a-S3, potassium-chloride transporter-3a, potassium-chloride transporter-3b, solut,
• Gene location: 15q14 (34338056: 34229783)     Exons: 27     NC_000015.10
• Gene summary(Entrez): This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activa
• OMIM: 604878

Protein Summary

• Protein general information: Q9UHW9  
  • Name: Solute carrier family 12 member 6 (Electroneutral potassium chloride cotransporter 3) (K Cl cotransporter 3)
  • Length: 1150  
  • Mass: 127617
  • Tissue specificity: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Ex
• Sequence:

  MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSLATVAL
  DPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEMDTRPKVSSLL
  NRMANYTNLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVL
  ICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
  IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYAGAIKSSFAPPHFPVC
  MLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATCDEYFVHNNVTSIQGIPGLASGIITENLWSN
  YLPKGEIIEKPSAKSSDVLGSLNHEYVLVDITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAIL
  TTSFVYLSNVVLFGACIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
  DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLRTPNWRPR
  FRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPP
  HTKNWRPQLLVLLKLDEDLHVKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKG
  FCQLVVAAKLREGISHLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
  SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDLATFLYHLRIEAEVEV
  VEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKDRNSMLRLTSIGSDEDEETETYQEKVHMTWT
  KDKYMASRGQKAKSMEGFQDLLNMRPDQSNVRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFL
  EVLTEGLERVLLVRGGGSEVITIYS

• Structural information:
  • Interpro: IPR004841  IPR030364  IPR000076  IPR018491  IPR004842  
  • STRING: ENSP00000346112
• Other Databases: GeneCards:  SLC12A6  Malacards:  SLC12A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140157	ammonium import across plasma membrane	IDA	biological process
GO:0008519	ammonium transmembrane transporter activity	IDA	molecular function
GO:0006884	cell volume homeostasis	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0055064	chloride ion homeostasis	IBA	biological process
GO:0055075	potassium ion homeostasis	IBA	biological process
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0071477	cellular hypotonic salinity response	IDA	biological process
GO:0015379	potassium:chloride symporter activity	IDA	molecular function
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0015379	potassium:chloride symporter activity	IEA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0071477	cellular hypotonic salinity response	IEA	biological process
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:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015379	potassium:chloride symporter activity	IDA	molecular function
GO:0006811	ion transport	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0001525	angiogenesis	NAS	biological process

Diseases

Associated diseases	References
Agenesis of the corpus callosum with peripheral neuropathy	KEGG:H00816
Agenesis of the corpus callosum with peripheral neuropathy	KEGG:H00816
Agenesis of the corpus callosum with peripheral neuropathy	PMID:16606917
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray