SLC52A3

SLC52A3
Identifiers
Aliases	SLC52A3 , BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, solute carrier family 52 member 3
External IDs	OMIM: 613350 MGI: 1916948 HomoloGene: 12324 GeneCards: SLC52A3
Gene location (Human)
Chr.	Chromosome 20 (human)
End	776,015 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	151,851,178 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; duodenum; ; deltoid muscle; ; tibialis anterior muscle; ; kidney; ; rectum; ; pancreatic ductal cell; ; palpebral conjunctiva; ; ventricle; ; left ventricle;
	Top expressed in
	intestinal villus; ; proximal tubule; ; jejunum; ; pyloric antrum; ; Paneth cell; ; crypt of lieberkuhn of small intestine; ; ileum; ; epithelium of stomach; ; seminiferous tubule; ; mucous cell of stomach;
	More reference expression data
	n/a
Gene ontology
Molecular function	riboflavin transmembrane transporter activity ;
Cellular component	integral component of membrane ; apical plasma membrane ; membrane ; integral component of plasma membrane ; plasma membrane ; nucleus ; cytoplasm ; nuclear membrane ;
Biological process	riboflavin metabolic process ; sensory perception of sound ; riboflavin transport ; cellular response to heat ;
	Sources:Amigo / QuickGO
Orthologs
	113278
	69698
	ENSG00000101276
	ENSMUSG00000027463
	Q9NQ40
	Q9D6X5
	NM_033409 ; NM_001370085 ; NM_001370086
	NM_001164819 ; NM_001164820 ; NM_027172
	NP_212134 ; NP_001357014 ; NP_001357015
	NP_001158291 ; NP_001158292 ; NP_081448
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 03, 2023

Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the SLC52A3 gene.^[5]^[6]

Function

This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.^[5]^[6]

Clinical significance

Mutations at this locus have been associated with Fazio–Londe disease and Brown-Vialetto-Van Laere syndrome.^[7]^[8]

Model organisms

*2310046K01Rik* knockout mouse phenotype
Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal^[9]
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Abnormal^[10]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal^[11]
Citrobacter infection	Normal^[12]
All tests and analysis from^[13]^[14]

Model organisms have been used in the study of C20orf54 function. The orthologous gene in mice is called 2310046K01Rik. A conditional knockout mouse line, called 2310046K01Rik^{tm2a(KOMP)Wtsi}^[15]^[16] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[17]^[18]^[19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[13]^[20] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.^[13] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and males had an increased mean corpuscular haemoglobin concentration.^[13]

Related Research Articles

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Kang Zhang is a Chinese-American ophthalmologist specializing in ophthalmic genetics and aging processes in the eye. He is currently a Professor of the Faculty of Medicine at Macau University of Science and Technology. He was previously a Professor of Ophthalmology and the Founding Director of the Institute for Genomic Medicine at the University of California, San Diego. Zhang is particularly known for his work on lanosterol, stem cell research, gene editing, and artificial intelligence.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000101276 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027463 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: chromosome 20 open reading frame 54".
1 2 Yamamoto S, Inoue K, Ohta KY, Fukatsu R, Maeda JY, Yoshida Y, Yuasa H (April 2009). "Identification and functional characterization of rat riboflavin transporter 2". J. Biochem. 145 (4): 437–43. doi:10.1093/jb/mvn181. PMID 19122205.
↑ Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (March 2010). "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54". Am. J. Hum. Genet. 86 (3): 485–9. doi:10.1016/j.ajhg.2010.02.006. PMC 2833371 . PMID 20206331.
↑ Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". Am. J. Hum. Genet. 87 (4): 567–9, author reply 569–70. doi:10.1016/j.ajhg.2010.05.021. PMC 2948797 . PMID 20920669.
↑ "Dysmorphology data for 2310046K01Rik". Wellcome Trust Sanger Institute.
↑ "Haematology data for 2310046K01Rik". Wellcome Trust Sanger Institute.
↑ "Salmonella infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.
↑ "Citrobacter infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.
1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
↑ "International Knockout Mouse Consortium".
↑ "Mouse Genome Informatics".
↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410 . PMID 21677750.
↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID 21677718.
↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID 17218247. S2CID 18872015.
↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC 3218837 . PMID 21722353.

Fujimura M, Yamamoto S, Murata T, Yasujima T, Inoue K, Ohta KY, Yuasa H (2010). "Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption". J. Nutr. 140 (10): 1722–7. doi: 10.3945/jn.110.128330 . PMID 20724488.
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Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z, Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S, Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE, Vidal M (2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307–15. doi:10.1016/j.ygeno.2006.11.012. PMC 4647941 . PMID 17207965.
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Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (2010). "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54". Am. J. Hum. Genet. 86 (3): 485–9. doi:10.1016/j.ajhg.2010.02.006. PMC 2833371 . PMID 20206331.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000101276 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027463 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: chromosome 20 open reading frame 54".

[pmid19122205-6] 1 2 Yamamoto S, Inoue K, Ohta KY, Fukatsu R, Maeda JY, Yoshida Y, Yuasa H (April 2009). "Identification and functional characterization of rat riboflavin transporter 2". J. Biochem. 145 (4): 437–43. doi:10.1093/jb/mvn181. PMID 19122205.

[pmid20206331-7] Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (March 2010). "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54". Am. J. Hum. Genet. 86 (3): 485–9. doi:10.1016/j.ajhg.2010.02.006. PMC 2833371 . PMID 20206331.

[pmid20920669-8] Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". Am. J. Hum. Genet. 87 (4): 567–9, author reply 569–70. doi:10.1016/j.ajhg.2010.05.021. PMC 2948797 . PMID 20920669.

[Dysmorphology-9] "Dysmorphology data for 2310046K01Rik". Wellcome Trust Sanger Institute.

[Haematology-10] "Haematology data for 2310046K01Rik". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-11] "Salmonella infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-12] "Citrobacter infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.

[mgp_reference-13] 1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[14] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-15] "International Knockout Mouse Consortium".

[mgi_allele_ref-16] "Mouse Genome Informatics".

[pmid21677750-17] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410 . PMID 21677750.

[mouse_library-18] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID 21677718.

[mouse_for_all_reasons-19] Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID 17218247. S2CID 18872015.

[pmid21722353-20] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC 3218837 . PMID 21722353.

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