SLC52A2

Protein identityUniProt · HPA

UniProt accession

Q9HAB3

Gene

SLC52A2

Ensembl

ENSG00000185803

Chromosome

8

Canonical length

445 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]

Canonical amino-acid sequenceUniProt

445 residues, UniProt reviewed canonical sequence.

>Q9HAB3|SLC52A2
     1  MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY VSVLVALGNL
    61  GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH HVAPVAGQLH SVAFLALAFV
   121  LALACCASNV TFLPFLSHLP PRFLRSFFLG QGLSALLPCV LALVQGVGRL ECPPAPINGT
   181  PGPPLDFLER FPASTFFWAL TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA
   241  EEEVEESSPL QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF
   301  SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG GYLMALAVLS
   361  PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG GRPALLAAGV AIQVGSLLGA
   421  VAMFPPTSIY HVFHSRKDCA DPCDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC52A2 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

11

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC52A2.

Disease | AllUniProt

Conditions SLC52A2 is implicated in, by any mechanism.

• Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) MIM:614707

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 572 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Brown-Vialetto-van Laere syndrome 2
• Inborn genetic diseases
• Mitochondrial disease
• SLC52A2-related disorder
• Brown-Vialetto-van Laere syndrome 1

Disease | ImmuneIEDB

Conditions an epitope on SLC52A2 was assayed in.

• colonic benign neoplasm T cell

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)

0.98

gnomAD pLI

0

gnomAD missense Z

-0.85

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• riboflavin metabolic process
• riboflavin transport

Molecular functions

• riboflavin transmembrane transporter activity
• virus receptor activity
• 4-hydroxybutyrate receptor activity

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Solute carrier family 52, riboflavin transporter
• Solute carrier family 52, riboflavin transporter

KeywordsUniProt

• Cell membrane
• Deafness
• Host cell receptor for virus entry
• Membrane
• Receptor
• Transmembrane
• Transmembrane helix
• Transport