SLC52A2

Existing Annotations Review

GO Term	Evidence	Action	Reason
GO:0005886 plasma membrane	IBA GO_REF:0000033	ACCEPT	Summary: Phylogenetic (IBA) inference that RFVT2 is active in the plasma membrane. This is correct and matches the experimentally established localization of this multi-pass cell-membrane transporter; it is a core cellular component. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt SUBCELLULAR LOCATION: Cell membrane
GO:0032217 riboflavin transmembrane transporter activity	IBA GO_REF:0000033	ACCEPT	Summary: Phylogenetic (IBA) inference of riboflavin transmembrane transporter activity, propagated across the SLC52/RFVT family. This is the core molecular function of SLC52A2 and is independently supported by direct transport assays. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Plasma membrane transporter mediating the uptake by cells of
GO:0032218 riboflavin transport	IBA GO_REF:0000033	ACCEPT	Summary: Phylogenetic (IBA) inference that RFVT2 is involved in riboflavin transport. Correct and core: RFVT2 imports riboflavin into cells and contributes to systemic/brain riboflavin homeostasis. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Plasma membrane transporter mediating the uptake by cells of
GO:0005886 plasma membrane	IEA GO_REF:0000120	ACCEPT	Summary: Electronic (IEA) plasma-membrane assignment (InterPro / UniProt SubCell). Redundant with the experimental localization but correct; this is the gene's own core component, so it is accepted rather than downgraded. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt SUBCELLULAR LOCATION: Cell membrane
GO:0032217 riboflavin transmembrane transporter activity	IEA GO_REF:0000120	ACCEPT	Summary: Electronic (IEA, ARBA/InterPro) assignment of riboflavin transmembrane transporter activity. Redundant with the experimental IDA evidence but correct; this is the gene's core molecular function, so it is accepted. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Plasma membrane transporter mediating the uptake by cells of
GO:0032218 riboflavin transport	IEA GO_REF:0000002	ACCEPT	Summary: Electronic (IEA, InterPro) assignment of riboflavin transport. Redundant with experimental evidence but correct and core; accepted. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Plasma membrane transporter mediating the uptake by cells of
GO:0005515 protein binding	IPI PMID:25416956 A proteome-scale map of the human interactome network.	MARK AS OVER ANNOTATED	Summary: Bare "protein binding" from a systematic human interactome map (interactor CDC23, Q9UJX2), matching UniProt's INTERACTION section. High-throughput binary interaction with no functional interpretation; uninformative as a molecular function. Retained (experimental IPI is not removed) but marked as over-annotated. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Q9HAB3; Q9UJX2: CDC23;
GO:0005515 protein binding	IPI PMID:32296183 A reference map of the human binary protein interactome.	MARK AS OVER ANNOTATED	Summary: Bare "protein binding" from the HuRI binary interactome (interactor FAM209A, Q5JX71), matching UniProt's INTERACTION section. High-throughput interaction with no functional insight; uninformative molecular function. Retained but marked as over-annotated. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Q9HAB3; Q5JX71: FAM209A;
GO:0006771 riboflavin metabolic process	TAS Reactome:R-HSA-196843	MARK AS OVER ANNOTATED	Summary: Placed in the Reactome "Vitamin B2 (riboflavin) metabolism" pathway. SLC52A2 is a membrane transporter, not a metabolic enzyme; it participates only by importing the vitamin. The specific, correct biological process is riboflavin transport (GO:0032218), which is already annotated. Annotating a transporter to the broad metabolic-process term is an over-annotation. Proposed replacements: riboflavin transport
GO:0016323 basolateral plasma membrane	IDA PMID:21854757 Differential expression of human riboflavin transporters -1,...	KEEP AS NON CORE	Summary: IDA from Subramanian et al. 2011. Note the historical nomenclature: in that paper the entity called "hRFT-3" is this gene (SLC52A2/RFVT2), whereas its "hRFT-2 apical" result concerns SLC52A3. For hRFT-3/SLC52A2 the paper reports predominantly intracellular-vesicle localization with some basolateral (BLM) signal in polarized epithelia. This supports a partial basolateral pool but is a context-specific, non-canonical localization; the dominant/core component is the plasma membrane generally. Kept as non-core. Supporting Evidence: PMID:21854757 this transporter was found to be localized predominantly within intracellular vesicles, although expression was evident at the BLM of some cells
GO:0032217 riboflavin transmembrane transporter activity	IDA PMID:21854757 Differential expression of human riboflavin transporters -1,...	ACCEPT	Summary: Direct assay: over-expression of this transporter (hRFT-3/SLC52A2) in HuTu-80 cells induced carrier-mediated 3H-riboflavin uptake. Supports the core molecular function. Supporting Evidence: PMID:21854757 over-expression of hRFTs in HuTu-80 cells caused a significant induction in carrier-mediated RF uptake
GO:0005886 plasma membrane	EXP PMID:24253200 Treatable childhood neuronopathy caused by mutations in ribo...	ACCEPT	Summary: Experimental localization from the RFVT2 BVVLS2 study (Foley et al. 2014): wild-type and the transport-dead p.W31S SLC52A2 are expressed in the plasma membrane of transfected HEK293 cells (crude-membrane western blot). Confirms the core plasma-membrane localization. Supporting Evidence: PMID:24253200 The dysfunctional p.W31S mutant was expressed in the plasma
GO:0032217 riboflavin transmembrane transporter activity	TAS Reactome:R-HSA-3165230	ACCEPT	Summary: Reactome TAS for the reaction "SLC52A1,2,3 transport RIB from extracellular region to cytosol". Correctly captures the core riboflavin transmembrane transporter activity of SLC52A2.
GO:0062124 4-hydroxybutyrate receptor activity	IDA PMID:17197387 Cloning and functional characterization of a gamma-hydroxybu...	MARK AS OVER ANNOTATED	Summary: Legacy characterization: Andriamampandry et al. 2007 cloned GPR172A/GHBh1 (this gene) from human cortex as a putative gamma-hydroxybutyrate (GHB) receptor with GTP-gamma-S-sensitive signalling. The protein is now firmly established as the riboflavin transporter RFVT2 (SLC52/e-RFT family, no GPCR fold), and UniProt retains the GHB-receptor role only tentatively ("May also act as a receptor for 4-hydroxybutyrate (Probable)", ECO:0000305). Assigning receptor activity to a riboflavin transporter is an over-annotation of a superseded secondary claim. Retained (experimental IDA is not removed) but marked as over-annotated. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt May also act as a receptor for 4-
GO:0005886 plasma membrane	IDA PMID:17197387 Cloning and functional characterization of a gamma-hydroxybu...	ACCEPT	Summary: Plasma-membrane localization from the same GPR172A/GHBh1 study. Independent of the disputed receptor-function interpretation, cell-surface localization is consistent with the established plasma-membrane transporter and is corroborated by multiple other studies; accepted as the core component. Supporting Evidence: PMID:17197387 the databank as the GPCR 172A.
GO:0005886 plasma membrane	IDA PMID:27702554 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialett...	ACCEPT	Summary: IDA (Udhayabanu et al. 2016): live-cell confocal imaging shows wild-type GFP-hRFVT-2 (SLC52A2) with membranous/cell-surface expression. Supports the core plasma-membrane localization. Supporting Evidence: PMID:27702554 showed membranous expression similar to wild-type GFP-hRFVT-2
GO:0032218 riboflavin transport	IDA PMID:27702554 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialett...	ACCEPT	Summary: IDA: 3H-riboflavin uptake assays in HuTu-80 cells for wild-type SLC52A2 (hRFVT-2) and the BVVLS2 mutant p.P141T. Demonstrates that SLC52A2 mediates riboflavin uptake (mutant shows a slight but significant reduction). Core biological process. Supporting Evidence: PMID:27702554 RF uptake by hRFVT-2 mutant p.P141T was slightly reduced
GO:0005886 plasma membrane	TAS Reactome:R-HSA-3165230	ACCEPT	Summary: Reactome TAS placing the SLC52A1/2/3 riboflavin transport reaction at the plasma membrane. Consistent with the established localization; accepted as core component.
GO:0005886 plasma membrane	IDA PMID:20463145 Identification and comparative functional characterization o...	ACCEPT	Summary: IDA (Yao et al. 2010) for the cloned transporter called "hRFT3" (= SLC52A2; KM 0.33 uM matches the UniProt value), a plasma-membrane riboflavin transporter. Core plasma-membrane localization. Supporting Evidence: file:human/SLC52A2/SLC52A2-uniprot.txt Plasma membrane transporter mediating the uptake by cells of
GO:0032217 riboflavin transmembrane transporter activity	IDA PMID:20463145 Identification and comparative functional characterization o...	ACCEPT	Summary: IDA: hRFT3/SLC52A2-mediated [3H]riboflavin uptake in HEK293 cells, KM 0.33 uM, Na+/Cl--independent and inhibited by riboflavin analogs. Directly establishes the core riboflavin transmembrane transporter activity. Supporting Evidence: PMID:20463145 was independent of extracellular Na+ and Cl(-). Specific uptake of
GO:0032218 riboflavin transport	IDA PMID:20463145 Identification and comparative functional characterization o...	ACCEPT	Summary: IDA: functional characterization of hRFT3/SLC52A2 as a riboflavin transporter strongly expressed in brain, proposed to play a role in brain riboflavin homeostasis. Supports the core riboflavin transport process. Supporting Evidence: PMID:20463145 hRFT3 may play an important role in brain riboflavin homeostasis

Gene Description

Existing Annotations Review

Core Functions

References

📚 Additional Documentation

Notes

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