SLC52A2 Chromosome 8
Solute carrier family 52 member 2
Upload your DNA to see your personal genotypes for variants in SLC52A2.
What This Gene Does
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]
Gene Info
Gene Group
"Solute carrier family 52|Flavoproteins"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000185803
Associated Conditions (7)
Inborn genetic diseases
Brown-Vialetto-van Laere syndrome 2
Auditory neuropathy spectrum disorder
SLC52A2-related disorder
Sensorineural hearing loss disorder
Brown-Vialetto-van Laere syndrome 1
Mitochondrial disease
Key Variants
RS1131691969
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1175039425
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Auditory neuropathy spectrum disorder, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS138160033
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS144290224
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder
Health Risk
RS144912258
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder
Health Risk
RS145502954
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder
Health Risk
RS146274588
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS151081625
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS1554853682
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS1564653965
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS200631895
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
Health Risk
RS2489047024
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691969 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1175039425 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Auditory neuropathy spectrum disorder, Brown-Vialetto-van Laere syndrome 2 |
| RS138160033 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS144290224 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder |
| RS144912258 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder |
| RS145502954 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder |
| RS146274588 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS151081625 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS1554853682 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1564653965 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS200631895 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2489047024 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS369895693 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS377110942 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS566858747 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS781816242 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS781903086 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS782175326 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS782245545 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS782345472 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2 |
| RS782731667 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1064795599 | Health Risk | Likely pathogenic | — |
| RS1554853875 | Health Risk | Likely pathogenic | — |
| RS1554854341 | Health Risk | Likely pathogenic | Sensorineural hearing loss disorder, Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2537251153 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS566814350 | Health Risk | Likely pathogenic | — |
| RS781842708 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS781923855 | Health Risk | Likely pathogenic | — |
| RS782305211 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS879253962 | Health Risk | Likely pathogenic | — |
| RS1312209529 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1337709383 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1374925248 | Health Risk | Pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS148234606 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, SLC52A2-related disorder |
| RS1554854044 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1564657463 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1586558204 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1818749427 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS1818749779 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2130638836 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2489035158 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2489039522 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS2489042181 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS375088539 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 2 |
| RS397514538 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, SLC52A2-related disorder, Mitochondrial disease |
| RS397514657 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS398123067 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS398123068 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |
| RS398124641 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases, Mitochondrial disease |
| RS781865550 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2 |