Format

Send to:

Choose Destination

SLC52A2 solute carrier family 52 member 2 [ Homo sapiens (human) ]

Gene ID: 79581, updated on 7-Jun-2020

Summary

Official Symbol
SLC52A2provided by HGNC
Official Full Name
solute carrier family 52 member 2provided by HGNC
Primary source
HGNC:HGNC:30224
See related
Ensembl:ENSG00000185803 MIM:607882
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAR1; RFT3; RFVT2; hRFT3; BVVLS2; GPCR41; GPR172A; D15Ertd747e
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 10.9), stomach (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See SLC52A2 in Genome Data Viewer
Location:
8q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144358547..144361272)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145582217..145584946)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scratch family transcriptional repressor 1 Neighboring gene transmembrane protein 249 Neighboring gene F-box and leucine rich repeat protein 6 Neighboring gene uncharacterized LOC101928902 Neighboring gene aarF domain containing kinase 5 Neighboring gene cleavage and polyadenylation specific factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
riboflavin transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
riboflavin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
riboflavin metabolic process TAS
Traceable Author Statement
more info
 
riboflavin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
riboflavin transport IDA
Inferred from Direct Assay
more info
PubMed 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier family 52, riboflavin transporter, member 2
Names
G protein-coupled receptor 172A
PERV-A receptor 1
porcine endogenous retrovirus A receptor 1
putative G-protein coupled receptor GPCR41
riboflavin transporter 3
solute carrier family 52 (riboflavin transporter), member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032872.2 RefSeqGene

    Range
    5001..7730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253815.2NP_001240744.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    See identical proteins and their annotated locations for NP_001240744.1

    Status: REVIEWED

    Source sequence(s)
    AC233992, AK291581, BQ772207
    Consensus CDS
    CCDS6423.1
    UniProtKB/Swiss-Prot
    Q9HAB3
    Related
    ENSP00000385961.1, ENST00000402965.5
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)
  2. NM_001253816.2NP_001240745.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    See identical proteins and their annotated locations for NP_001240745.1

    Status: REVIEWED

    Source sequence(s)
    AC233992
    Consensus CDS
    CCDS6423.1
    UniProtKB/Swiss-Prot
    Q9HAB3
    Related
    ENSP00000435820.1, ENST00000530047.5
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)
  3. NM_001363118.2NP_001350047.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC002917, BF984649
    Consensus CDS
    CCDS6423.1
    Related
    ENSP00000496184.1, ENST00000643944.1
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)
  4. NM_001363120.2NP_001350049.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AU119853, BC002917
    Consensus CDS
    CCDS6423.1
    Related
    ENSP00000434728.1, ENST00000527078.5
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)
  5. NM_001363121.2NP_001350050.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC002917, BX462918
    Consensus CDS
    CCDS6423.1
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)
  6. NM_001363122.2NP_001350051.1  solute carrier family 52, riboflavin transporter, member 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC233992, AL560856, BC002917
    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  7. NM_024531.5NP_078807.1  solute carrier family 52, riboflavin transporter, member 2 isoform 1

    See identical proteins and their annotated locations for NP_078807.1

    Status: REVIEWED

    Source sequence(s)
    AC233992, AL560856, BC002917
    Consensus CDS
    CCDS6423.1
    UniProtKB/Swiss-Prot
    Q9HAB3
    Related
    ENSP00000333638.2, ENST00000329994.6
    Conserved Domains (1) summary
    pfam06237
    Location:273371
    DUF1011; Protein of unknown function (DUF1011)

RNA

  1. NR_045600.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK303822, CA306391, CN260061, DA289629

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144358547..144361272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013822.1XP_016869311.1  solute carrier family 52, riboflavin transporter, member 2 isoform X3

    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  2. XM_017013821.1XP_016869310.1  solute carrier family 52, riboflavin transporter, member 2 isoform X3

    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  3. XM_011517300.2XP_011515602.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    Conserved Domains (1) summary
    pfam06237
    Location:185283
    DUF1011; Protein of unknown function (DUF1011)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p13 PATCHES

    Range
    89155..91875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center