Seroatlas · Human Serome Atlas

SLC6A12

Sodium- and chloride-dependent betaine transporter

Also known as: BGT-1, S6A12_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P48065
Gene
SLC6A12
Ensembl
ENSG00000111181
Chromosome
12
Canonical length
614 aa
Protein class
Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles

OverviewNCBI Gene

Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in gamma-aminobutyric acid transport and monocarboxylic acid transport. Predicted to be located in basolateral plasma membrane. Predicted to be active in cell projection and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

614 residues, UniProt reviewed canonical sequence.

>P48065|SLC6A12
     1  MDGKVAVQEC GPPAVSWVPE EGEKLDQEDE DQVKDRGQWT NKMEFVLSVA GEIIGLGNVW
    61  RFPYLCYKNG GGAFFIPYFI FFFVCGIPVF FLEVALGQYT SQGSVTAWRK ICPLFQGIGL
   121  ASVVIESYLN VYYIIILAWA LFYLFSSFTS ELPWTTCNNF WNTEHCTDFL NHSGAGTVTP
   181  FENFTSPVME FWERRVLGIT SGIHDLGSLR WELALCLLLA WVICYFCIWK GVKSTGKVVY
   241  FTATFPYLML VILLIRGVTL PGAYQGIIYY LKPDLFRLKD PQVWMDAGTQ IFFSFAICQG
   301  CLTALGSYNK YHNNCYKDCI ALCFLNSATS FVAGFVVFSI LGFMSQEQGV PISEVAESGP
   361  GLAFIAFPKA VTMMPLSQLW SCLFFIMLIF LGLDSQFVCV ECLVTASIDM FPRQLRKSGR
   421  RELLILTIAV MCYLIGLFLV TEGGMYIFQL FDYYASSGIC LLFLSLFEVV CISWVYGADR
   481  FYDNIEDMIG YRPWPLVKIS WLFLTPGLCL ATFLFSLSKY TPLKYNNVYV YPPWGYSIGW
   541  FLALSSMVCV PLFVVITLLK TRGPFRKRLR QLITPDSSLP QPKQHPCLDG SAGRNFGPSP
   601  TREGLIAGEK ETHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A12 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
12
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
68 nTPM

Expression across tissuesHPA

Tissue

  • liver: 68 nTPM
  • kidney: 20 nTPM
  • cerebral cortex: 6.7 nTPM
  • epididymis: 6.4 nTPM
  • duodenum: 4 nTPM
  • basal ganglia: 3.5 nTPM

Single-cell type

  • proximal tubule cells: 91 nCPM
  • retinal pigment epithelial cells: 77 nCPM
  • loop of henle epithelial cells: 63 nCPM
  • pericytes: 44 nCPM
  • renal collecting duct principal cells: 44 nCPM
  • hepatocytes: 39 nCPM

Immune cell

  • non-classical monocyte: 7 nTPM
  • classical monocyte: 4.9 nTPM
  • intermediate monocyte: 4.8 nTPM
  • neutrophil: 2.6 nTPM
  • myeloid DC: 2.1 nTPM
  • total PBMC: 1.7 nTPM

Brain region

  • cerebral cortex: 32 nTPM
  • midbrain: 25 nTPM
  • amygdala: 21 nTPM
  • thalamus: 21 nTPM
  • basal ganglia: 21 nTPM
  • hypothalamus: 18 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)
0.83
gnomAD pLI
0
gnomAD missense Z
1.59
DepMap mean gene effect
0.02
DepMap dependency class
selective

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 SLC6A12 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 SLC6A12 as an antibody target. Whether an autoantibody or antibody against SLC6A12 could matter depends on whether native SLC6A12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A12 is annotated at the cell surface, where native SLC6A12 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 SLC6A12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A12. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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