SLC12A8
Solute carrier family 12 member 8
Also known as: CCC9, S12A8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A0AV02
- Gene
- SLC12A8
- Ensembl
- ENSG00000221955
- Chromosome
- 3
- Canonical length
- 714 aa
- Protein class
- Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
714 residues, UniProt reviewed canonical sequence.
>A0AV02|SLC12A8
1 MTQMSQVQEL FHEAAQQDAL AQPQPWWKTQ LFMWEPVLFG TWDGVFTSCM INIFGVVLFL
61 RTGWLVGNTG VLLGMFLVSF VILVALVTVL SGIGVGERSS IGSGGVYSMI SSVLGGQTGG
121 TIGLLYVFGQ CVAGAMYITG FAESISDLLG LGNIWAVRGI SVAVLLALLG INLAGVKWII
181 RLQLLLLFLL AVSTLDFVVG SFTHLDPEHG FIGYSPELLQ NNTLPDYSPG ESFFTVFGVF
241 FPAATGVMAG FNMGGDLREP AASIPLGSLA AVGISWFLYI IFVFLLGAIC TREALRYDFL
301 IAEKVSLMGF LFLLGLYISS LASCMGGLYG APRILQCIAQ EKVIPALACL GQGKGPNKTP
361 VAAICLTSLV TMAFVFVGQV NVLAPIVTIN FMLTYVAVDY SYFSLSMCSC SLTPVPEPVL
421 REGAEGLHCS EHLLLEKAPS YGSEGPAQRV LEGTLLEFTK DMDQLLQLTR KLESSQPRQG
481 EGNRTPESQK RKSKKATKQT LQDSFLLDLK SPPSFPVEIS DRLPAASWEG QESCWNKQTS
541 KSEGTQPEGT YGEQLVPELC NQSESSGEDF FLKSRLQEQD VWRRSTSFYT HMCNPWVSLL
601 GAVGSLLIMF VIQWVYTLVN MGVAAIVYFY IGRASPGLHL GSASNFSFFR WMRSLLLPSC
661 RSLRSPQEQI ILAPSLAKVD MEMTQLTQEN ADFATRDRYH HSSLVNREQL MPHYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC12A8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 13
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 21 nTPM
- choroid plexus: 13 nTPM
- salivary gland: 11 nTPM
- pancreas: 9.2 nTPM
- gallbladder: 7.7 nTPM
- liver: 6 nTPM
Single-cell type
- goblet cells: 157 nCPM
- choroid plexus epithelial cells: 155 nCPM
- salivary acinar cells: 83 nCPM
- lacrimal acinar cells: 76 nCPM
- alveolar cells type 1: 75 nCPM
- gonadotrophs: 61 nCPM
Immune cell
- basophil: 0.2 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 26 nTPM
- hippocampal formation: 7.9 nTPM
- basal ganglia: 7.3 nTPM
- cerebral cortex: 7.2 nTPM
- amygdala: 6.6 nTPM
- hypothalamus: 5.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.23
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.31
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell volume homeostasis
- chloride ion homeostasis
- chloride transmembrane transport
- potassium ion homeostasis
- potassium ion import across plasma membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC12A8 as an antibody target. Whether an autoantibody or antibody against SLC12A8 could matter depends on whether native SLC12A8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC12A8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC12A8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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