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

Gene ID: 79581, updated on 3-Apr-2024

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; AllianceGenome:HGNC:30224
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; HuPAR-1; 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
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Genomic context

See SLC52A2 in Genome Data Viewer
Location:
8q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144358552..144361272)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145527181..145529901)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145582212..145584932)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145579988-145580524 Neighboring gene transmembrane protein 249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145583746-145584281 Neighboring gene F-box and leucine rich repeat protein 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145589246-145589414 Neighboring gene uncharacterized LOC101928902 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:145593027-145593528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145595436-145595936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19680 Neighboring gene aarF domain containing kinase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145613649-145614150 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
solute carrier family 52, riboflavin transporter, member 2
Names
G protein-coupled receptor 172A
G-protein coupled receptor 41
PERV-A receptor 1
human porcine endogenous retrovirus subgroup 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)

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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
    5057..7716
    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
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    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
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    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
    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    Related
    ENSP00000496184.2, ENST00000643944.2
    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
    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    Related
    ENSP00000434728.1, ENST00000527078.6
    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
    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    Related
    ENSP00000431965.2, ENST00000534725.6
    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
    Consensus CDS
    CCDS94364.1
    UniProtKB/TrEMBL
    A0A6Q8PG35, E9PKE4
    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  7. NM_001410949.1NP_001397878.1  solute carrier family 52, riboflavin transporter, member 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC233992
    Consensus CDS
    CCDS94365.1
    UniProtKB/TrEMBL
    A0A6Q8PHF8
    Related
    ENSP00000502670.1, ENST00000526891.2
  8. 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
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    UniProtKB/TrEMBL
    B4E1F8
    Related
    ENSP00000333638.2, ENST00000329994.7
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144358552..144361272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013822.2XP_016869311.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PG35, E9PKE4
    Related
    ENSP00000433583.3, ENST00000526338.7
    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  2. XM_047422214.1XP_047278170.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    Related
    ENSP00000502406.1, ENST00000674870.1
  3. XM_017013821.2XP_016869310.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PG35, E9PKE4
    Related
    ENSP00000501973.1, ENST00000675597.1
    Conserved Domains (1) summary
    pfam06237
    Location:109207
    DUF1011; Protein of unknown function (DUF1011)
  4. XM_047422217.1XP_047278173.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
    Related
    ENSP00000501554.1, ENST00000674929.1
  5. XM_047422216.1XP_047278172.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  6. XM_047422213.1XP_047278169.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
    Related
    ENSP00000502796.1, ENST00000675280.1
  7. XM_047422215.1XP_047278171.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654716.1 Reference GRCh38.p14 PATCHES

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

mRNA and Protein(s)

  1. XM_054332209.1XP_054188184.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  2. XM_054332204.1XP_054188179.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
  3. XM_054332206.1XP_054188181.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  4. XM_054332208.1XP_054188183.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  5. XM_054332207.1XP_054188182.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  6. XM_054332203.1XP_054188178.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
  7. XM_054332205.1XP_054188180.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145527181..145529901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361202.1XP_054217177.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  2. XM_054361197.1XP_054217172.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
  3. XM_054361199.1XP_054217174.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  4. XM_054361201.1XP_054217176.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  5. XM_054361200.1XP_054217175.1  solute carrier family 52, riboflavin transporter, member 2 isoform X2

    UniProtKB/TrEMBL
    E9PKE4
  6. XM_054361196.1XP_054217171.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3
  7. XM_054361198.1XP_054217173.1  solute carrier family 52, riboflavin transporter, member 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K6B6, D3DWL8, G1UCY1, Q86UT1, Q9HAB3