• Gene id: 56996

Gene Summary

• Gene Symbol: SLC12A9   Gene   UCSC   Ensembl
• Aliases: CCC6, CIP1, WO3.3, hCCC6
• Gene name: solute carrier family 12 member 9
• Alternate names: solute carrier family 12 member 9, CCC-interacting protein 1, cation-chloride cotransporter 6, cation-chloride cotransporter-interacting protein 1, potassium-chloride transporter 9, solute carrier family 12 (potassium/chloride transporters), member 9,
• Gene location: 7q22.1 (100826868: 100867011)     Exons: 16     NC_000007.14
• OMIM: 602965

Protein Summary

• Protein general information: Q9BXP2  
  • Name: Solute carrier family 12 member 9 (Cation chloride cotransporter 6) (hCCC6) (Cation chloride cotransporter interacting protein 1) (CCC interacting protein 1) (hCIP1) (Potassium chloride transporter 9) (WO3.3)
  • Length: 914  
  • Mass: 96110
  • Tissue specificity: Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart.
• Sequence:

  MASESSPLLAYRLLGEEGVALPANGAGGPGGASARKLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLLQALAM
  LLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLVESVLDVFGAD
  ATGPSGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLISFVAVGPRDIRLTPRP
  GPNGSSLPPRFGHFTGFNSSTLKDNLGAGYAEDYTTGAVMNFASVFAVLFNGCTGIMAGANMSGELKDPSRAIPL
  GTIVAVAYTFFVYVLLFFLSSFTCDRTLLQEDYGFFRAISLWPPLVLIGIYATALSASMSSLIGASRILHALARD
  DLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAVVTVFYLVAYAAVDLSCLSLEWASAPNFRPT
  FSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAALLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKD
  HVKFWRPQLLLLVGNPRGALPLLRLANQLKKGGLYVLGHVTLGDLDSLPSDPVQPQYGAWLSLVDRAQVKAFVDL
  TLSPSVRQGAQHLLRISGLGGMKPNTLVLGFYDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSP
  RALNPQDYVATVADALKMNKNVVLARASGALPPERLSRGSGGTSQLHHVDVWPLNLLRPRGGPGYVDVCGLFLLQ
  MATILGMVPAWHSARLRIFLCLGPREAPGAAEGRLRALLSQLRIRAEVQEVVWGEGAGAGEPEAEEEGDFVNSGR
  GDAEAEALARSANALVRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDLGPT
  LLVHGVTPVTCTDL

• Structural information:
  • Interpro: IPR004841  IPR018491  IPR030345  
  • STRING: ENSP00000275730
• Other Databases: GeneCards:  SLC12A9  Malacards:  SLC12A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006884	cell volume homeostasis	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:0022857	transmembrane transporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015377	cation:chloride symporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

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