Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 149 (29 Sep 2021)
Sequence version 1 (01 Mar 2001)
Previous versions | rss
Add a publicationFeedback
Protein

Solute carrier family 52, riboflavin transporter, member 2

Gene

SLC52A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554).

Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).

May also act as a receptor for 4-hydroxybutyrate (Probable).

1 Publication1 Publication5 Publications

(Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A).

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Riboflavin transport is Na+-independent but moderately pH-sensitive (PubMed:20463145). Activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145). Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) (PubMed:20463145).1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.33 µM for riboflavin1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHost cell receptor for virus entry, Receptor
Biological processTransport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HAB3

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196843, Vitamin B2 (riboflavin) metabolism

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.125.1.3, the eukaryotic riboflavin transporter (e-rft) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 52, riboflavin transporter, member 2
Alternative name(s):
Porcine endogenous retrovirus A receptor 11 Publication
Short name:
PERV-A receptor 11 Publication
Protein GPR172A
Riboflavin transporter 3
Short name:
hRFT3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC52A2
Synonyms:GPR172A, PAR1, RFT3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30224, SLC52A2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607882, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HAB3

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000185803

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei14 – 34HelicalSequence analysisAdd BLAST21
Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
Transmembranei112 – 132HelicalSequence analysisAdd BLAST21
Transmembranei147 – 167HelicalSequence analysisAdd BLAST21
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Transmembranei366 – 386HelicalSequence analysisAdd BLAST21
Transmembranei404 – 424HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07743331W → S in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs797045199EnsemblClinVar.1
Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657EnsemblClinVar.1
Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538EnsemblClinVar.1
Natural variantiVAR_077436141P → T in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs377740960Ensembl.1
Natural variantiVAR_077437284A → D in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123067EnsemblClinVar.1
Natural variantiVAR_077438305Y → C in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123068EnsemblClinVar.1
Natural variantiVAR_068694306G → R in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs398124641EnsemblClinVar.1
Natural variantiVAR_077439312L → P in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs754320812EnsemblClinVar.1
Natural variantiVAR_077440339L → P in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs148234606EnsemblClinVar.1
Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
79581

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC52A2

MalaCards human disease database

More...
MalaCardsi
SLC52A2
MIMi614707, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185803

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
572543, RFVT2-related riboflavin transporter deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134982935

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HAB3, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB01440, gamma-Hydroxybutyric acid

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC52A2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74734171

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000426311 – 445Solute carrier family 52, riboflavin transporter, member 2Add BLAST445

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HAB3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HAB3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HAB3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9HAB3

PeptideAtlas

More...
PeptideAtlasi
Q9HAB3

PRoteomics IDEntifications database

More...
PRIDEi
Q9HAB3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81389

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9HAB3, 1 site, 2 O-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HAB3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HAB3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185803, Expressed in prostate gland and 217 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HAB3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HAB3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185803, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
122725, 11 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HAB3, 6 interactors

Molecular INTeraction database

More...
MINTi
Q9HAB3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000436768

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HAB3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni228 – 264DisorderedSequence analysisAdd BLAST37

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the riboflavin transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4255, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003774

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034789_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HAB3

Identification of Orthologs from Complete Genome Data

More...
OMAi
IVHIVEM

Database of Orthologous Groups

More...
OrthoDBi
757564at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HAB3

TreeFam database of animal gene trees

More...
TreeFami
TF314820

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009357, Riboflavin_transptr

The PANTHER Classification System

More...
PANTHERi
PTHR12929, PTHR12929, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06237, DUF1011, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

Q9HAB3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY
60 70 80 90 100
VSVLVALGNL GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH
110 120 130 140 150
HVAPVAGQLH SVAFLALAFV LALACCASNV TFLPFLSHLP PRFLRSFFLG
160 170 180 190 200
QGLSALLPCV LALVQGVGRL ECPPAPINGT PGPPLDFLER FPASTFFWAL
210 220 230 240 250
TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA EEEVEESSPL
260 270 280 290 300
QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF
310 320 330 340 350
SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG
360 370 380 390 400
GYLMALAVLS PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG
410 420 430 440
GRPALLAAGV AIQVGSLLGA VAMFPPTSIY HVFHSRKDCA DPCDS
Length:445
Mass (Da):45,777
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB61421B956E44F84
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKE4E9PKE4_HUMAN
Riboflavin transporter
SLC52A2
281Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PG35A0A6Q8PG35_HUMAN
Riboflavin transporter
SLC52A2
262Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHF8A0A6Q8PHF8_HUMAN
Riboflavin transporter
SLC52A2
357Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGB9A0A6Q8PGB9_HUMAN
Riboflavin transporter
SLC52A2
439Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJC1E9PJC1_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
111Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGE2A0A6Q8PGE2_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PIX2E9PIX2_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPS0E9PPS0_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRC3E9PRC3_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFH5A0A6Q8PFH5_HUMAN
Solute carrier family 52, riboflavi...
SLC52A2
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti341G → S in AAL59882 (PubMed:12740431).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07743331W → S in BVVLS2; strong decrease in riboflavin transport; no effect on localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs797045199EnsemblClinVar.1
Natural variantiVAR_07743452S → F in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514657EnsemblClinVar.1
Natural variantiVAR_077435123L → P in BVVLS2; strongly decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514538EnsemblClinVar.1
Natural variantiVAR_077436141P → T in BVVLS2; decreased riboflavin transport; no effect on localization to plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs377740960Ensembl.1
Natural variantiVAR_077437284A → D in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123067EnsemblClinVar.1
Natural variantiVAR_077438305Y → C in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs398123068EnsemblClinVar.1
Natural variantiVAR_068694306G → R in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs398124641EnsemblClinVar.1
Natural variantiVAR_077439312L → P in BVVLS2; decreased riboflavin transport; decreased localization to plasma membrane; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs754320812EnsemblClinVar.1
Natural variantiVAR_077440339L → P in BVVLS2; loss of riboflavin transport; loss of localization to plasma membrane; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs148234606EnsemblClinVar.1
Natural variantiVAR_077441419G → S in BVVLS2; decreased riboflavin transport. 1 PublicationCorresponds to variant dbSNP:rs397514658EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY070774 mRNA Translation: AAL59882.1
AB522904 mRNA Translation: BAK79010.1
AK021918 mRNA Translation: BAB13936.1
AK027888 mRNA Translation: BAB55433.1
AK291581 mRNA Translation: BAF84270.1
AF205589 Genomic DNA No translation available.
CH471162 Genomic DNA Translation: EAW82115.1
CH471162 Genomic DNA Translation: EAW82116.1
BC002917 mRNA Translation: AAH02917.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6423.1

NCBI Reference Sequences

More...
RefSeqi
NP_001240744.1, NM_001253815.1
NP_001240745.1, NM_001253816.1
NP_078807.1, NM_024531.4
XP_006716721.1, XM_006716658.2
XP_006716722.1, XM_006716659.2
XP_006716723.1, XM_006716660.2
XP_016869308.1, XM_017013819.1
XP_016869309.1, XM_017013820.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000329994; ENSP00000333638; ENSG00000185803
ENST00000402965; ENSP00000385961; ENSG00000185803
ENST00000527078; ENSP00000434728; ENSG00000185803
ENST00000530047; ENSP00000435820; ENSG00000185803
ENST00000532815; ENSP00000501933; ENSG00000185803
ENST00000533662; ENSP00000502274; ENSG00000185803
ENST00000534725; ENSP00000431965; ENSG00000185803
ENST00000643944; ENSP00000496184; ENSG00000185803
ENST00000644059; ENSP00000494426; ENSG00000285112
ENST00000644819; ENSP00000495046; ENSG00000285112
ENST00000645040; ENSP00000495874; ENSG00000285112
ENST00000645386; ENSP00000495049; ENSG00000285112
ENST00000646034; ENSP00000495788; ENSG00000285112
ENST00000674870; ENSP00000502406; ENSG00000185803
ENST00000675121; ENSP00000501993; ENSG00000185803
ENST00000675280; ENSP00000502796; ENSG00000185803
ENST00000675292; ENSP00000502652; ENSG00000185803
ENST00000675888; ENSP00000502294; ENSG00000185803

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79581

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79581

UCSC genome browser

More...
UCSCi
uc003zcc.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY070774 mRNA Translation: AAL59882.1
AB522904 mRNA Translation: BAK79010.1
AK021918 mRNA Translation: BAB13936.1
AK027888 mRNA Translation: BAB55433.1
AK291581 mRNA Translation: BAF84270.1
AF205589 Genomic DNA No translation available.
CH471162 Genomic DNA Translation: EAW82115.1
CH471162 Genomic DNA Translation: EAW82116.1
BC002917 mRNA Translation: AAH02917.1
CCDSiCCDS6423.1
RefSeqiNP_001240744.1, NM_001253815.1
NP_001240745.1, NM_001253816.1
NP_078807.1, NM_024531.4
XP_006716721.1, XM_006716658.2
XP_006716722.1, XM_006716659.2
XP_006716723.1, XM_006716660.2
XP_016869308.1, XM_017013819.1
XP_016869309.1, XM_017013820.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi122725, 11 interactors
IntActiQ9HAB3, 6 interactors
MINTiQ9HAB3
STRINGi9606.ENSP00000436768

Chemistry databases

DrugBankiDB01440, gamma-Hydroxybutyric acid

Protein family/group databases

TCDBi2.A.125.1.3, the eukaryotic riboflavin transporter (e-rft) family

PTM databases

GlyGeniQ9HAB3, 1 site, 2 O-linked glycans (1 site)
iPTMnetiQ9HAB3
PhosphoSitePlusiQ9HAB3

Genetic variation databases

BioMutaiSLC52A2
DMDMi74734171

Proteomic databases

EPDiQ9HAB3
jPOSTiQ9HAB3
MassIVEiQ9HAB3
PaxDbiQ9HAB3
PeptideAtlasiQ9HAB3
PRIDEiQ9HAB3
ProteomicsDBi81389

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
67476, 90 antibodies

The DNASU plasmid repository

More...
DNASUi
79581

Genome annotation databases

EnsembliENST00000329994; ENSP00000333638; ENSG00000185803
ENST00000402965; ENSP00000385961; ENSG00000185803
ENST00000527078; ENSP00000434728; ENSG00000185803
ENST00000530047; ENSP00000435820; ENSG00000185803
ENST00000532815; ENSP00000501933; ENSG00000185803
ENST00000533662; ENSP00000502274; ENSG00000185803
ENST00000534725; ENSP00000431965; ENSG00000185803
ENST00000643944; ENSP00000496184; ENSG00000185803
ENST00000644059; ENSP00000494426; ENSG00000285112
ENST00000644819; ENSP00000495046; ENSG00000285112
ENST00000645040; ENSP00000495874; ENSG00000285112
ENST00000645386; ENSP00000495049; ENSG00000285112
ENST00000646034; ENSP00000495788; ENSG00000285112
ENST00000674870; ENSP00000502406; ENSG00000185803
ENST00000675121; ENSP00000501993; ENSG00000185803
ENST00000675280; ENSP00000502796; ENSG00000185803
ENST00000675292; ENSP00000502652; ENSG00000185803
ENST00000675888; ENSP00000502294; ENSG00000185803
GeneIDi79581
KEGGihsa:79581
UCSCiuc003zcc.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79581
DisGeNETi79581

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC52A2
GeneReviewsiSLC52A2
HGNCiHGNC:30224, SLC52A2
HPAiENSG00000185803, Low tissue specificity
MalaCardsiSLC52A2
MIMi607882, gene
614707, phenotype
neXtProtiNX_Q9HAB3
OpenTargetsiENSG00000185803
Orphaneti572543, RFVT2-related riboflavin transporter deficiency
PharmGKBiPA134982935
VEuPathDBiHostDB:ENSG00000185803

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4255, Eukaryota
GeneTreeiENSGT00390000003774
HOGENOMiCLU_034789_1_0_1
InParanoidiQ9HAB3
OMAiIVHIVEM
OrthoDBi757564at2759
PhylomeDBiQ9HAB3
TreeFamiTF314820

Enzyme and pathway databases

PathwayCommonsiQ9HAB3
ReactomeiR-HSA-196843, Vitamin B2 (riboflavin) metabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
79581, 24 hits in 1015 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC52A2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
79581
PharosiQ9HAB3, Tbio

Protein Ontology

More...
PROi
PR:Q9HAB3
RNActiQ9HAB3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185803, Expressed in prostate gland and 217 other tissues
ExpressionAtlasiQ9HAB3, baseline and differential
GenevisibleiQ9HAB3, HS

Family and domain databases

InterProiView protein in InterPro
IPR009357, Riboflavin_transptr
PANTHERiPTHR12929, PTHR12929, 1 hit
PfamiView protein in Pfam
PF06237, DUF1011, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS52A2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HAB3
Secondary accession number(s): A8K6B6
, D3DWL8, G1UCY1, Q86UT1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: September 29, 2021
This is version 149 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again