Seroatlas · Human Serome Atlas

SLC22A5

Organic cation/carnitine transporter 2

Also known as: CDSP, OCTN2, S22A5_HUMAN, SCD

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

Protein identityUniProt · HPA

UniProt accession
O76082
Gene
SLC22A5
Ensembl
ENSG00000197375
Chromosome
5
Canonical length
557 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Mitochondria

OverviewNCBI Gene

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Canonical amino-acid sequenceUniProt

557 residues, UniProt reviewed canonical sequence.

>O76082|SLC22A5
     1  MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC RVPDAANLSS
    61  AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS
   121  QDVYLSTIVT EWNLVCEDDW KAPLTISLFF VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ
   181  TGFSFLQIFS KNFEMFVVLF VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA
   241  FGYMVLPLFA YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA
   301  AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML WMTISVGYFG
   361  LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR YSMATALFLG GSVLLFMQLV
   421  PPDLYYLATV LVMVGKFGVT AAFSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF
   481  VYLGAYDRFL PYILMGSLTI LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR
   541  MLKDGQERPT ILKSTAF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC22A5 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)
0.27
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 34 nTPM
  • kidney: 16 nTPM
  • tongue: 13 nTPM
  • small intestine: 10 nTPM
  • parathyroid gland: 10 nTPM
  • heart muscle: 7.9 nTPM

Single-cell type

  • proximal tubule cells: 548 nCPM
  • myonuclei: 101 nCPM
  • renal collecting duct intercalated cells: 101 nCPM
  • epididymal efferent duct absorptive cells: 80 nCPM
  • enterocytes: 73 nCPM
  • colonocytes: 68 nCPM

Immune cell

  • myeloid DC: 2.7 nTPM
  • classical monocyte: 1.8 nTPM
  • T-reg: 1.8 nTPM
  • memory CD8 T-cell: 1.1 nTPM
  • naive CD8 T-cell: 1.1 nTPM
  • intermediate monocyte: 1 nTPM

Brain region

  • choroid plexus: 14 nTPM
  • hypothalamus: 5 nTPM
  • thalamus: 4.7 nTPM
  • white matter: 4.7 nTPM
  • spinal cord: 4.6 nTPM
  • basal ganglia: 4.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC22A5.

Disease | AllUniProt

Conditions SLC22A5 is implicated in, by any mechanism.

  • Systemic primary carnitine deficiency (CDSP) MIM:212140

Disease | GeneticClinVar

287 pathogenic / likely-pathogenic of 1,336 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Renal carnitine transport defect
  • Carnitine deficiency
  • Decreased circulating carnitine concentration
  • SLC22A5-related disorder
  • Inborn genetic diseases

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)
1.36
gnomAD pLI
0
gnomAD missense Z
-0.36
DepMap mean gene effect
-0.17
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC22A5 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 SLC22A5 as an antibody target. Whether an autoantibody or antibody against SLC22A5 could matter depends on whether native SLC22A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC22A5 is annotated at the cell surface, where native SLC22A5 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 SLC22A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC22A5. 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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