Seroatlas · Human Serome Atlas

SLC12A5

Solute carrier family 12 member 5

Also known as: KCC2, KIAA1176, S12A5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H2X9
Gene: SLC12A5
Ensembl: ENSG00000124140
Chromosome: 20
Canonical length: 1139 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Quaternary structure: Homodimer

OverviewNCBI Gene

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]

Canonical amino-acid sequenceUniProt

1139 residues, UniProt reviewed canonical sequence.

>Q9H2X9|SLC12A5
     1  MSRRFTVTSL PPAGPARSPD PESRRHSVAD PRHLPGEDVK GDGNPKESSP FINSTDTEKG
    61  KEYDGKNMAL FEEEMDTSPM VSSLLSGLAN YTNLPQGSRE HEEAENNEGG KKKPVQAPRM
   121  GTFMGVYLPC LQNIFGVILF LRLTWVVGIA GIMESFCMVF ICCSCTMLTA ISMSAIATNG
   181  VVPAGGSYYM ISRSLGPEFG GAVGLCFYLG TTFAGAMYIL GTIEILLAYL FPAMAIFKAE
   241  DASGEAAAML NNMRVYGTCV LTCMATVVFV GVKYVNKFAL VFLGCVILSI LAIYAGVIKS
   301  AFDPPNFPIC LLGNRTLSRH GFDVCAKLAW EGNETVTTRL WGLFCSSRFL NATCDEYFTR
   361  NNVTEIQGIP GAASGLIKEN LWSSYLTKGV IVERSGMTSV GLADGTPIDM DHPYVFSDMT
   421  SYFTLLVGIY FPSVTGIMAG SNRSGDLRDA QKSIPTGTIL AIATTSAVYI SSVVLFGACI
   481  EGVVLRDKFG EAVNGNLVVG TLAWPSPWVI VIGSFFSTCG AGLQSLTGAP RLLQAISRDG
   541  IVPFLQVFGH GKANGEPTWA LLLTACICEI GILIASLDEV APILSMFFLM CYMFVNLACA
   601  VQTLLRTPNW RPRFRYYHWT LSFLGMSLCL ALMFICSWYY ALVAMLIAGL IYKYIEYRGA
   661  EKEWGDGIRG LSLSAARYAL LRLEEGPPHT KNWRPQLLVL VRVDQDQNVV HPQLLSLTSQ
   721  LKAGKGLTIV GSVLEGTFLE NHPQAQRAEE SIRRLMEAEK VKGFCQVVIS SNLRDGVSHL
   781  IQSGGLGGLQ HNTVLVGWPR NWRQKEDHQT WRNFIELVRE TTAGHLALLV TKNVSMFPGN
   841  PERFSEGSID VWWIVHDGGM LMLLPFLLRH HKVWRKCKMR IFTVAQMDDN SIQMKKDLTT
   901  FLYHLRITAE VEVVEMHESD ISAYTYEKTL VMEQRSQILK QMHLTKNERE REIQSITDES
   961  RGSIRRKNPA NTRLRLNVPE ETAGDSEEKP EEEVQLIHDQ SAPSCPSSSP SPGEEPEGEG
  1021  ETDPEKVHLT WTKDKSVAEK NKGPSPVSSE GIKDFFSMKP EWENLNQSNV RRMHTAVRLN
  1081  EVIVKKSRDA KLVLLNMPGP PRNRNGDENY MEFLEVLTEH LDRVMLVRGG GREVITIYS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC12A5 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): 0.31
Highest tissue expression: 195 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 195 nTPM
basal ganglia: 156 nTPM
cerebral cortex: 155 nTPM
hippocampal formation: 112 nTPM
retina: 109 nTPM
hypothalamus: 109 nTPM

Single-cell type

cone photoreceptor cells: 199 nCPM
retinal bipolar cells: 188 nCPM
retinal amacrine cells: 133 nCPM
brain inhibitory neurons: 131 nCPM
rod photoreceptor cells: 118 nCPM
brain excitatory neurons: 90 nCPM

Immune cell

naive CD4 T-cell: 2.4 nTPM
T-reg: 1.9 nTPM
naive CD8 T-cell: 1.3 nTPM
gdT-cell: 1.1 nTPM
classical monocyte: 0.6 nTPM
MAIT T-cell: 0.5 nTPM

Brain region

cerebral cortex: 286 nTPM
basal ganglia: 200 nTPM
cerebellum: 193 nTPM
hypothalamus: 190 nTPM
hippocampal formation: 176 nTPM
thalamus: 175 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC12A5.

Disease | AllUniProt

Conditions SLC12A5 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 34 (DEE34) MIM:616645
Epilepsy, idiopathic generalized 14 (EIG14) MIM:616685

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 1,037 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 34
Epilepsy, idiopathic generalized, susceptibility to, 14

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 4.7
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 SLC12A5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

AP2A1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC12A5 as an antibody target. Whether an autoantibody or antibody against SLC12A5 could matter depends on whether native SLC12A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC12A5 is annotated at the cell surface, where native SLC12A5 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 SLC12A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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