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Gene

SLC52A2

solute carrier family 52 member 2

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 144,358,613–144,361,272 (GRCh38)
Exons
5 exons across 2.7 kb
Protein
445 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3, RFT3, HuPAR-1
Previous symbols
GPR172A
MANE Select transcript
ENST00000643944.2NM_001363118.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Riboflavin Transporter Deficiency

    • Autosomal recessive

      A neuronopathy caused by biallelic variants in SLC52A2 or SLC52A3, with sensorineural hearing loss, bulbar palsy, optic atrophy and respiratory weakness.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      High-dose oral riboflavin can improve outcomes, especially when started early.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SLC52A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where SLC52A2 sits. SLC52A2 and 47 genes near it on chromosome 8, from 143,859,943 to 144,859,942.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3144 Mb144.2 Mb144.4 Mb144.6 Mb144.8 MbEPPK1: 143,857,324–143,878,468, reverse strandEPPK1PLEC: 143,915,152–143,977,039, reverse strandPLECPARP10: 143,977,151–144,019,930, reverse strandPARP10GRINA: 143,990,048–143,994,935, forward strandGRINASPATC1: 144,012,275–144,047,114, forward strandSPATC1OPLAH: 144,051,265–144,064,091, reverse strandEXOSC4: 144,078,560–144,081,408, forward strand: 144,078,642–144,084,330, forward strandGPAA1: 144,082,337–144,093,149, forward strandCYC1: 144,095,039–144,097,525, forward strandSHARPIN: 144,097,513–144,108,124, reverse strandSHARPINMAF1: 144,103,112–144,107,618, forward strandMAF1WDR97: 144,107,726–144,118,328, forward strandWDR97HGH1: 144,137,774–144,140,851, forward strandHGH1MROH1: 144,147,975–144,262,470, forward strandMROH1BOP1: 144,262,045–144,291,453, reverse strandBOP1SCX: 144,266,446–144,268,481, forward strandSCXHSF1: 144,291,521–144,314,729, forward strandHSF1DGAT1: 144,314,584–144,326,916, reverse strandSCRT1: 144,330,565–144,336,503, reverse strandCATSPERQ: 144,352,219–144,354,954, reverse strandCATSPERQ: 144,353,228–144,355,609, reverse strandFBXL6: 144,355,427–144,359,376, reverse strandFBXL6SLC52A2: 144,358,613–144,361,272, forward strandSLC52A2ADCK5: 144,373,101–144,393,243, forward strandCPSF1: 144,393,229–144,409,864, reverse strandSLC39A4: 144,409,742–144,416,894, reverse strandVPS28: 144,423,597–144,429,499, reverse strandVPS28TONSL: 144,428,763–144,444,488, reverse strandTONSLZFTRAF1: 144,447,345–144,462,908, reverse strandZFTRAF1TMEM276-ZFTRAF1: 144,449,582–144,465,430, reverse strandTMEM276: 144,463,817–144,466,890, reverse strandKIFC2: 144,465,940–144,474,202, forward strandFOXH1: 144,473,412–144,475,873, reverse strandPPP1R16A: 144,475,989–144,502,126, forward strandGPT: 144,502,608–144,507,494, forward strandGPTSLC33A2: 144,508,263–144,511,317, forward strandSLC33A2RECQL4: 144,511,284–144,517,890, reverse strandLRRC14: 144,517,957–144,526,244, forward strandLRRC24: 144,522,385–144,527,608, reverse strandC8orf82: 144,525,733–144,529,132, reverse strandARHGAP39: 144,529,179–144,685,879, reverse strandZNF251: 144,720,515–144,756,417, reverse strandZNF251ZNF34: 144,770,441–144,788,684, reverse strandZNF34RPL8: 144,789,765–144,793,502, reverse strandRPL8ZNF517: 144,798,863–144,813,034, forward strandZNF517ZNF7: 144,826,894–144,848,546, forward strandZNF7COMMD5: 144,837,760–144,854,229, reverse strandCOMMD5Diagram of SLC52A2: 5 exons on the forward strand of chromosome 8Exon 2: 2 known disease-causing sitesExon 3: 17 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 1: 144,358,613–144,359,065, 453 basesExon 2: 144,359,184–144,359,423, 240 basesExon 3: 144,359,623–144,360,493, 871 basesExon 4: 144,360,590–144,360,713, 124 basesExon 5: 144,360,803–144,361,272, 470 bases123455′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.2 kb of the gene's 2.7 kb; 1,338 of those bases code for the protein.

How a genome test reads SLC52A2

30

positions in SLC52A2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.7 kb of SLC52A2, introns included, not only the 2.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC52A2 gene: solute carrier family 52 member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc52a2

Vancouver

Dante Labs. SLC52A2 gene: solute carrier family 52 member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc52a2

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