Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79581
Gene name	Solute carrier family 52 member 2
Gene symbol	SLC52A2
Synonyms (NCBI Gene)	BVVLS2D15Ertd747eGPCR41GPR172AHuPAR-1PAR1RFT3RFVT2hRFT3
Chromosome	8
Chromosome location	8q24.3
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

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148234606	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368924997	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397514658	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879254305	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691969	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023237	hsa-miR-122-5p	Microarray	17612493
MIRT025663	hsa-miR-7-5p	Microarray	19073608
MIRT026995	hsa-miR-103a-3p	Sequencing	20371350
MIRT030432	hsa-miR-24-3p	Microarray	19748357

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17197387, 20463145, 27702554
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006771	Process	Riboflavin metabolic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0032217	Function	Riboflavin transmembrane transporter activity	IBA
GO:0032217	Function	Riboflavin transmembrane transporter activity	IDA	20463145
GO:0032217	Function	Riboflavin transmembrane transporter activity	IEA
GO:0032217	Function	Riboflavin transmembrane transporter activity	TAS
GO:0032218	Process	Riboflavin transport	IBA
GO:0032218	Process	Riboflavin transport	IDA	20463145, 27702554
GO:0032218	Process	Riboflavin transport	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0062124	Function	4-hydroxybutyrate receptor activity	IDA	17197387

MIM	HGNC	e!Ensembl
607882	30224	ENSG00000185803

Q9HAB3

Protein name

Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 3) (hRFT3)

Protein function

Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMe

PDB

8XSM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06237	DUF1011	273 → 371	Protein of unknown function (DUF1011)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues. {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:20463145}.

Sequence

MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNL
GLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFV
LALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGT
PGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGA
EEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSF
SCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLS
PCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGA
VAMFPPTSIYHVFHSRKDCADPCDS

Sequence length

445

Interactions

View interactions

	Reactome
			Vitamin B2 (riboflavin) metabolism

469

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy spectrum disorder	Pathogenic	rs1374925248	RCV003984983
Brown-Vialetto-van Laere syndrome 1	Pathogenic	rs375088539	RCV002272152
Brown-Vialetto-van Laere syndrome 2	Pathogenic; Likely pathogenic	rs398123067, rs398123068, rs1818749427, rs1554854341, rs2130638836, rs375088539, rs781865550, rs374071862, rs754320812, rs368924997, rs879254305, rs1818749779, rs2489039522, rs2489035158, rs2489042181 View all (14 more)	RCV000082864 RCV000082865 RCV001383060 RCV001994370 RCV001972860 RCV000167765 RCV002755808 RCV000191983 RCV000191986 RCV000191988 RCV001318413 RCV003531481 RCV003531552 RCV003646504 RCV003646562 RCV001061713 RCV000029145 RCV000545032 RCV000032776 RCV000032777 RCV000033238 RCV000703629 RCV000693599 RCV000818266 RCV000816576 RCV001059548 RCV001269384 RCV001220456 RCV001257945 RCV002510591
Mitochondrial disease	Pathogenic	rs398124641, rs397514538	RCV005624709 RCV005624715
Sensorineural hearing loss disorder	Likely pathogenic	rs1554854341	RCV001353205
SLC52A2-related disorder	Pathogenic	rs397514538, rs148234606	RCV004755753 RCV004755754

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs141698844	RCV005901743
Malignant tumor of urinary bladder	Uncertain significance	rs398124641	RCV005929960
Ovarian serous cystadenocarcinoma	Likely benign	rs1554854394	RCV005926411
Sarcoma	Uncertain significance	rs976384253	RCV005898557
Squamous cell lung carcinoma	Uncertain significance	rs141698844, rs782174760	RCV005901742 RCV005901727
Thymoma	Uncertain significance	rs782004712	RCV005928664

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Macrocytic	Associate	35441393
Ataxia	Associate	24253200
Brain Stem Neoplasms	Associate	31064337
Brown Vialetto Van Laere syndrome	Associate	22864630, 24139842, 24253200, 26918385, 27702554, 27777325, 28382968, 31064337, 31500345, 33109881, 33929122, 35441393, 37786244
Bulbar Palsy Progressive	Associate	33109881
Carcinoma Hepatocellular	Associate	36550445
Cranial Nerve Diseases	Associate	24253200
Deglutition Disorders	Associate	31064337
Diabetic Neuropathies	Associate	33109881
Dyspnea	Associate	31064337
Encephalitis Herpes Simplex	Associate	35441393
Fasciculation	Associate	33109881
Hearing Loss	Associate	24253200, 26918385, 31064337, 33109881
Hearing Loss Sensorineural	Associate	31064337
Isolated Noncompaction of the Ventricular Myocardium	Associate	33929122
Motor Neuron Disease	Associate	24139842
Muscle Weakness	Associate	24253200, 31064337
Muscular Atrophy Spinal	Associate	24253200
Neoplasms	Associate	23722107
Nervous System Diseases	Associate	33109881
Neurodegenerative Diseases	Associate	26918385
Neurologic Manifestations	Associate	31500345
Optic Atrophy	Associate	24253200, 33109881
Respiratory Insufficiency	Associate	31064337, 33109881
Riboflavin Deficiency	Associate	33929122, 34428344
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	24253200
Spinocerebellar Degenerations	Associate	26669662
Stomach Neoplasms	Associate	23722107
Tongue Diseases	Associate	33109881

SLC52A2 (solute carrier family 52 member 2)