Slc52a3 MGI Mouse Gene Detail - MGI:1916948 - solute carrier protein family 52, member 3

Symbol

Slc52a3
Name

solute carrier protein family 52, member 3
Synonyms

2310046K01Rik

Feature Type

protein coding gene
IDs

MGI:1916948
NCBI Gene: 69698
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr2:151838431-151851178 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 74.83 cM, cytoband H1
Mapping Data

3 experiments

SNPs within 2kb

378 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916948	protein coding gene	Chr2:151838431-151851178 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026649	protein coding gene	Chr2:156510027-156522763 (+)
A/J	MGP_AJ_G0026615	protein coding gene	Chr2:150277953-150287076 (+)
AKR/J	MGP_AKRJ_G0026585	protein coding gene	Chr2:154668838-154672875 (+)
BALB/cJ	MGP_BALBcJ_G0026624	protein coding gene	Chr2:150596227-150601098 (+)
C3H/HeJ	MGP_C3HHeJ_G0026367	protein coding gene	Chr2:155054736-155058773 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027073	protein coding gene	Chr2:161072159-161083885 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024444	protein coding gene	Chr2:143885104-143898062 (+)
CAST/EiJ	MGP_CASTEiJ_G0025828	protein coding gene	Chr2:155276221-155287917 (+)
CBA/J	MGP_CBAJ_G0026345	protein coding gene	Chr2:166964096-166975746 (+)
DBA/2J	MGP_DBA2J_G0026481	protein coding gene	Chr2:149503306-149511571 (+)
FVB/NJ	MGP_FVBNJ_G0026446	protein coding gene	Chr2:147942143-147946180 (+)
LP/J	MGP_LPJ_G0026585	protein coding gene	Chr2:156673993-156689095 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026468	protein coding gene	Chr2:171107599-171120322 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027128	protein coding gene	Chr2:154543999-154553107 (+)
PWK/PhJ	MGP_PWKPhJ_G0025562	protein coding gene	Chr2:149020769-149033590 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025365	protein coding gene	Chr2:153374095-153387940 (+)
WSB/EiJ	MGP_WSBEiJ_G0025898	protein coding gene	Chr2:155467156-155478911 (+)

Human Ortholog

SLC52A3, solute carrier family 52 member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC52A3, solute carrier family 52 member 3
Synonyms

bA371L19.1, BVVLS, BVVLS1, C20orf54, hRFT2, RFT2, RFVT3
Links

HGNC:16187

NCBI Gene ID: 113278

neXtProt AC: NX_Q9NQ40

UniProt: Q9NQ40
Chr Location

20p13; chr20:760080-780033 (-) GRCh38

MGI Vertebrate Homology

Slc52a3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC52A3
Gene Tree

Slc52a3

Diseases

2 with human SLC52A3 associations

				Human Disease	Mouse Models
				Brown-Vialetto-Van Laere syndrome 1 IDs Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 OMIM:211530
				Fazio-Londe disease IDs Fazio-Londe disease DOID:0080632 OMIM:211500

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

29 phenotypes from 2 alleles in 3 genetic backgrounds
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Endonuclease-mediated

3
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Slc52a3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency.

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All GO Annotations

22
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

793
Tissues

58
cDNA Data

29
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc52a3

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All Sequences

48
RefSeq

8
UniProt

1
CCDS

CCDS16876.1, CCDS50749.1

Ensembl

ENSMUSG00000027463 (Evidence)
NCBI Gene

69698

			Length	Strain/Species	Flank
genomic	69698	NCBI Gene Model \| MGI Sequence Detail	12748	C57BL/6J	± kb
transcript	NM_027172	RefSeq \| MGI Sequence Detail	2656	C57BL/6
polypeptide	Q9D6X5	UniProt \| EBI \| MGI Sequence Detail	460	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032131 solute carrier family 52, riboflavin transporter, member 3

(term hierarchy)
InterPro Domains

IPR009357 Solute carrier family 52, riboflavin transporter
GlyGen

Q9D6X5 2 sites

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All nucleic 32

cDNA 29

Primer pair 2

Other 1

Microarray probesets 3

Summaries

All 44

Developmental Gene Expression 5

Gene Ontology 8

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Slc52a3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20746	Chr2:151838425-151838476 (+)	20 bp
Tssr20747	Chr2:151841794-151841805 (+)	3,369 bp
Tssr20748	Chr2:151841806-151841821 (+)	3,383 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24