• Gene id: 10723

Gene Summary

• Gene Symbol: SLC12A7   Gene   UCSC   Ensembl
• Aliases: KCC4
• Gene name: solute carrier family 12 member 7
• Alternate names: solute carrier family 12 member 7, K-Cl cotransporter 4, SUCO/SLC12A7 fusion, electroneutral potassium-chloride cotransporter 4, potassium/chloride transporter KCC4, solute carrier family 12 (potassium/chloride transporter), member 7, solute carrier family 12 (,
• Gene location: 5p15.33 (1155886: 1050383)     Exons: 32     NC_000005.10

Protein Summary

• Protein general information: Q9Y666  
  • Name: Solute carrier family 12 member 7 (Electroneutral potassium chloride cotransporter 4) (K Cl cotransporter 4)
  • Length: 1083  
  • Mass: 119106
  • Tissue specificity: Detected in muscle, brain, lung, heart and kidney.
• Sequence:

  MPTNFTVVPVEAHADGGGDETAERTEAPGTPEGPEPERPSPGDGNPRENSPFLNNVEVEQESFFEGKNMALFEEE
  MDSNPMVSSLLNKLANYTNLSQGVVEHEEDEESRRREAKAPRMGTFIGVYLPCLQNILGVILFLRLTWIVGVAGV
  LESFLIVAMCCTCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEIFL
  TYISPGAAIFQAEAAGGEAAAMLHNMRVYGTCTLVLMALVVFVGVKYVNKLALVFLACVVLSILAIYAGVIKSAF
  DPPDIPVCLLGNRTLSRRSFDACVKAYGIHNNSATSALWGLFCNGSQPSAACDEYFIQNNVTEIQGIPGAASGVF
  LENLWSTYAHAGAFVEKKGVPSVPVAEESRASALPYVLTDIAASFTLLVGIYFPSVTGIMAGSNRSGDLKDAQKS
  IPTGTILAIVTTSFIYLSCIVLFGACIEGVVLRDKFGEALQGNLVIGMLAWPSPWVIVIGSFFSTCGAGLQSLTG
  APRLLQAIARDGIVPFLQVFGHGKANGEPTWALLLTVLICETGILIASLDSVAPILSMFFLMCYLFVNLACAVQT
  LLRTPNWRPRFKFYHWTLSFLGMSLCLALMFICSWYYALSAMLIAGCIYKYIEYRGAEKEWGDGIRGLSLNAARY
  ALLRVEHGPPHTKNWRPQVLVMLNLDAEQAVKHPRLLSFTSQLKAGKGLTIVGSVLEGTYLDKHMEAQRAEENIR
  SLMSTEKTKGFCQLVVSSSLRDGMSHLIQSAGLGGLKHNTVLMAWPASWKQEDNPFSWKNFVDTVRDTTAAHQAL
  LVAKNVDSFPQNQERFGGGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQVDDNSIQMKKDLQMFLY
  HLRISAEVEVVEMVENDISAFTYERTLMMEQRSQMLKQMQLSKNEQEREAQLIHDRNTASHTAAAARTQAPPTPD
  KVQMTWTREKLIAEKYRSRDTSLSGFKDLFSMKPDQSNVRRMHTAVKLNGVVLNKSQDAQLVLLNMPGPPKNRQG
  DENYMEFLEVLTEGLNRVLLVRGGGREVITIYS

• Structural information:
  • Interpro: IPR004841  IPR030354  IPR000076  IPR018491  IPR004842  
  • STRING: ENSP00000264930
• Other Databases: GeneCards:  SLC12A7  Malacards:  SLC12A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008519	ammonium transmembrane transporter activity	ISS	molecular function
GO:0140157	ammonium import across plasma membrane	ISS	biological process
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: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:0006884	cell volume homeostasis	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:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015379	potassium:chloride symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0008519	ammonium transmembrane transporter activity	IEA	molecular function
GO:0140157	ammonium import across plasma membrane	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
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