Seroatlas · Human Serome Atlas

SLC19A2

Thiamine transporter 1

Also known as: S19A2_HUMAN, ThT1, THTR1, TRMA

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

Protein identityUniProt · HPA

UniProt accession
O60779
Gene
SLC19A2
Ensembl
ENSG00000117479
Chromosome
1
Canonical length
497 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

497 residues, UniProt reviewed canonical sequence.

>O60779|SLC19A2
     1  MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP
    61  DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV VLLQGLSLIV TWFMLLYAQG
   121  LLAIQFLEFF YGIATATEIA YYSYIYSVVD LGMYQKVTSY CRSATLVGFT VGSVLGQILV
   181  SVAGWSLFSL NVISLTCVSV AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD
   241  TPASNHLPGW EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV
   301  WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA VGYIKISWST
   361  WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY MLLITIATFQ IAANLSMERY
   421  ALVFGVNTFI ALALQTLLTL IVVDASGLGL EITTQFLIYA SYFALIAVVF LASGAVSVMK
   481  KCRKLEDPQS SSQVTTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC19A2 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)
0.33
Highest tissue expression
102 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 102 nTPM
  • tongue: 79 nTPM
  • liver: 35 nTPM
  • adipose tissue: 34 nTPM
  • gallbladder: 24 nTPM
  • parathyroid gland: 23 nTPM

Single-cell type

  • syncytiotrophoblasts: 361 nCPM
  • urothelial cells: 274 nCPM
  • myonuclei: 254 nCPM
  • ocular epithelial cells: 213 nCPM
  • salivary basal cells: 183 nCPM
  • epididymal efferent duct absorptive cells: 166 nCPM

Immune cell

  • non-classical monocyte: 2 nTPM
  • eosinophil: 1.1 nTPM
  • MAIT T-cell: 1.1 nTPM
  • naive CD4 T-cell: 1 nTPM
  • naive CD8 T-cell: 1 nTPM
  • NK-cell: 0.9 nTPM

Brain region

  • choroid plexus: 18 nTPM
  • cerebellum: 9 nTPM
  • medulla oblongata: 8.7 nTPM
  • thalamus: 7.2 nTPM
  • hippocampal formation: 6.8 nTPM
  • pons: 6.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC19A2.

Disease | AllUniProt

Conditions SLC19A2 is implicated in, by any mechanism.

  • Thiamine-responsive megaloblastic anemia syndrome (TRMA) MIM:249270

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 517 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)
0.76
gnomAD pLI
0
gnomAD missense Z
0.19
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 SLC19A2 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 SLC19A2 as an antibody target. Whether an autoantibody or antibody against SLC19A2 could matter depends on whether native SLC19A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC19A2 is annotated at the cell surface, where native SLC19A2 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 SLC19A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC19A2. 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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