Seroatlas · Human Serome Atlas

SLC6A5

Sodium- and chloride-dependent glycine transporter 2

Also known as: GlyT-2, GLYT2, NET1, SC6A5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9Y345
Gene
SLC6A5
Ensembl
ENSG00000165970
Chromosome
11
Canonical length
797 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

797 residues, UniProt reviewed canonical sequence.

>Q9Y345|SLC6A5
     1  MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR VPRSASTGAQ
    61  TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA QGAQASPPPG SSGPGNALHC
   121  KIPFLRGPEG DANVSVGKGT LERNNTPVVG WVNMSQSTVV LATDGITSVL PGSVATVATQ
   181  EDEQGDENKA RGNWSSKLDF ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA
   241  GLPIFFLEVS LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA
   301  SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA YPNVTMVNFT
   361  SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL FLAWVIVYAS LAKGIKTSGK
   421  VVYFTATFPY VVLVILLIRG VTLPGAGAGI WYFITPKWEK LTDATVWKDA ATQIFFSLSA
   481  AWGGLITLSS YNKFHNNCYR DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD
   541  QGPGIAFVVY PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT
   601  HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV GISYVYGLQR
   661  FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW EPMTYGSYRY PNWSMVLGWL
   721  MLACSVIWIP IMFVIKMHLA PGRFIERLKL VCSPQPDWGP FLAQHRGERY KNMIDPLGTS
   781  SLGLKLPVKD LELGTQC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC6A5 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)
0.35
Highest tissue expression
0.9 nTPM

Expression across tissuesHPA

Tissue

  • lung: 0.9 nTPM
  • spinal cord: 0.7 nTPM
  • cerebellum: 0.6 nTPM
  • pituitary gland: 0.6 nTPM
  • testis: 0.3 nTPM
  • cerebral cortex: 0.1 nTPM

Single-cell type

  • late spermatids: 114 nCPM
  • lactotrophs: 40 nCPM
  • early spermatids: 28 nCPM
  • oocytes: 9.2 nCPM
  • late primary spermatocytes: 2 nCPM
  • thyrotrophs: 2 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 46 nTPM
  • pons: 43 nTPM
  • spinal cord: 15 nTPM
  • white matter: 6.5 nTPM
  • cerebellum: 3.2 nTPM
  • amygdala: 2.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC6A5.

Disease | AllUniProt

Conditions SLC6A5 is implicated in, by any mechanism.

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 881 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.97
gnomAD pLI
0
gnomAD missense Z
-0.09
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 SLC6A5 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 SLC6A5 as an antibody target. Whether an autoantibody or antibody against SLC6A5 could matter depends on whether native SLC6A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC6A5 is annotated at the cell surface, where native SLC6A5 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 SLC6A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC6A5. 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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