Seroatlas · Human Serome Atlas

SLC12A2

Solute carrier family 12 member 2

Also known as: BSC-2, BSC2, CCC1, NKCC1, PPP1R141, S12A2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P55011
Gene: SLC12A2
Ensembl: ENSG00000064651
Chromosome: 5
Canonical length: 1212 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters
Subcellular location: Vesicles,Plasma membrane,Basal body
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

1212 residues, UniProt reviewed canonical sequence.

>P55011|SLC12A2
     1  MEPRPTAPSS GAPGLAGVGE TPSAAALAAA RVELPGTAVP SVPEDAAPAS RDGGGVRDEG
    61  PAAAGDGLGR PLGPTPSQSR FQVDLVSENA GRAAAAAAAA AAAAAAAGAG AGAKQTPADG
   121  EASGESEPAK GSEEAKGRFR VNFVDPAASS SAEDSLSDAA GVGVDGPNVS FQNGGDTVLS
   181  EGSSLHSGGG GGSGHHQHYY YDTHTNTYYL RTFGHNTMDA VPRIDHYRHT AAQLGEKLLR
   241  PSLAELHDEL EKEPFEDGFA NGEESTPTRD AVVTYTAESK GVVKFGWIKG VLVRCMLNIW
   301  GVMLFIRLSW IVGQAGIGLS VLVIMMATVV TTITGLSTSA IATNGFVRGG GAYYLISRSL
   361  GPEFGGAIGL IFAFANAVAV AMYVVGFAET VVELLKEHSI LMIDEINDIR IIGAITVVIL
   421  LGISVAGMEW EAKAQIVLLV ILLLAIGDFV IGTFIPLESK KPKGFFGYKS EIFNENFGPD
   481  FREEETFFSV FAIFFPAATG ILAGANISGD LADPQSAIPK GTLLAILITT LVYVGIAVSV
   541  GSCVVRDATG NVNDTIVTEL TNCTSAACKL NFDFSSCESS PCSYGLMNNF QVMSMVSGFT
   601  PLISAGIFSA TLSSALASLV SAPKIFQALC KDNIYPAFQM FAKGYGKNNE PLRGYILTFL
   661  IALGFILIAE LNVIAPIISN FFLASYALIN FSVFHASLAK SPGWRPAFKY YNMWISLLGA
   721  ILCCIVMFVI NWWAALLTYV IVLGLYIYVT YKKPDVNWGS STQALTYLNA LQHSIRLSGV
   781  EDHVKNFRPQ CLVMTGAPNS RPALLHLVHD FTKNVGLMIC GHVHMGPRRQ AMKEMSIDQA
   841  KYQRWLIKNK MKAFYAPVHA DDLREGAQYL MQAAGLGRMK PNTLVLGFKK DWLQADMRDV
   901  DMYINLFHDA FDIQYGVVVI RLKEGLDISH LQGQEELLSS QEKSPGTKDV VVSVEYSKKS
   961  DLDTSKPLSE KPITHKVEEE DGKTATQPLL KKESKGPIVP LNVADQKLLE ASTQFQKKQG
  1021  KNTIDVWWLF DDGGLTLLIP YLLTTKKKWK DCKIRVFIGG KINRIDHDRR AMATLLSKFR
  1081  IDFSDIMVLG DINTKPKKEN IIAFEEIIEP YRLHEDDKEQ DIADKMKEDE PWRITDNELE
  1141  LYKTKTYRQI RLNELLKEHS STANIIVMSL PVARKGAVSS ALYMAWLEAL SKDLPPILLV
  1201  RGNHQSVLTF YS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC12A2 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: Cell surface
Secreted: No
Transmembrane segments: 9
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 71 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 71 nTPM
stomach: 58 nTPM
rectum: 55 nTPM
small intestine: 46 nTPM
colon: 46 nTPM
breast: 41 nTPM

Single-cell type

mucous neck cells: 1,034 nCPM
paneth cells: 1,002 nCPM
enteric stem cells: 984 nCPM
prostatic glandular cells: 762 nCPM
gastric chief cells: 742 nCPM
lacrimal acinar cells: 723 nCPM

Immune cell

plasmacytoid DC: 6.4 nTPM
NK-cell: 2.4 nTPM
naive B-cell: 2 nTPM
MAIT T-cell: 1.9 nTPM
memory B-cell: 1.7 nTPM
naive CD8 T-cell: 1.6 nTPM

Brain region

white matter: 159 nTPM
basal ganglia: 127 nTPM
cerebellum: 125 nTPM
midbrain: 118 nTPM
medulla oblongata: 114 nTPM
choroid plexus: 113 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC12A2.

Disease | AllUniProt

Conditions SLC12A2 is implicated in, by any mechanism.

Deafness, autosomal dominant, 78 (DFNA78) MIM:619081
Delpire-McNeill syndrome (DELMNES) MIM:619083
Kilquist syndrome (KILQS) MIM:619080

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 685 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Delpire-McNeill syndrome
Hearing loss, autosomal dominant 78
Kilquist syndrome
SLC12A2-related disorder
Hearing loss

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): 0.31
gnomAD pLI: 0.96
gnomAD missense Z: 2.4
DepMap mean gene effect: 0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC12A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC12A2 as an antibody target. Whether an autoantibody or antibody against SLC12A2 could matter depends on whether native SLC12A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC12A2 is annotated at the cell surface, where native SLC12A2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC12A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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