SLC2A3

protein-coding

solute carrier family 2 member 3, the group of Solute carrier family 2

Gene summary

Enables D-glucose binding activity; dehydroascorbic acid transmembrane transporter activity; and hexose transmembrane transporter activity. Involved in D-glucose import across plasma membrane; galactose transmembrane transport; and transport across blood-brain barrier. Located in plasma membrane. Biomarker of Alzheimer's disease; acanthosis nigricans; diabetes mellitus; and type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GLUT3

MANE transcript

NM_006931.3

Inheritance

ClinVar variants

U:62B:8

Top phenotype

Huntington disease

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr12:7,919,230-8,019,007

External References & Databases

Ensembl (ENSG00000059804)

Transcript & Mutation Effects

hg38 • Region Span ~99.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Huntington diseaseSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0007739

Submitter: Orphanet

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC2A3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 63

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006931.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar	1 clinvar	5
missense			60 clinvar	4 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	62	7	1	70

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006931.3	RefSeq	NP_008862.1	10	MANE Select
ENST00000075120.12	Ensembl	ENSP00000075120.7	10	MANE Select
ENST00000544291.1	Ensembl	ENSP00000440750.1	4	Standard
ENST00000544936.1	Ensembl	ENSP00000441496.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
slc2a3a	Danio rerio	Structure: blood vessel Quality: permeable abnormal

Gene / Model

Organism

Observed Phenotype

slc2a3a

Danio rerio

Structure: blood vessel

Quality: permeable

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors Meta-Pathway
NRF2 pathway
Photodynamic therapy-induced HIF-1 survival signaling
Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
PI3K-AKT-mTOR - VitD3 Signalling

Biological Process

carbohydrate metabolic process
L-ascorbic acid metabolic process
neutrophil degranulation
dehydroascorbic acid transport
glucose transmembrane transport

Molecular Function

glucose transmembrane transporter activity
glucose binding
dehydroascorbic acid transmembrane transporter activity
D-glucose transmembrane transporter activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane
secretory granule membrane
specific granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000075120
Coding exons: 10
Length: 17046
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125748
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.03	237	286	0.828	0.0000161	3200
Missense (PolyPhen)		73	104.18	0.7007		1265
Synonymous	-0.919	128	115	1.11	0.00000718	1026
Loss of Function	2.72	7	20.2	0.346	9.43e-7	233

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000033	0.000033	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed:9477959, PubMed:26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed:9477959, PubMed:26176916). Does not mediate fructose transport (PubMed:9477959, PubMed:26176916). {ECO:0000269|PubMed:26176916, ECO:0000269|PubMed:9477959}.;

Recessive Scores

pRec: 0.150

Intolerance Scores

LoFtool: 0.345
RVIS EVS: 0.62
RVIS percentile EVS: 83.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.284

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium