SLC2A3

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

Basic information

Region (hg38): 12:7919230-8019007

Previous symbols: [ "GLUT3" ]

Links

ENSG00000059804 ∙ NCBI:6515 ∙ OMIM:138170 ∙ HGNC:11007 ∙ Uniprot:P11169 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC2A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			21	4		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding				1		1
Total	0	0	21	6	1

Variants in SLC2A3

This is a list of pathogenic ClinVar variants found in the SLC2A3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-7921445-C-T		not specified	Uncertain significance (Oct 25, 2023)
12-7921455-C-A		not specified	Uncertain significance (May 14, 2024)
12-7921543-C-T		not specified	Uncertain significance (Jan 17, 2024)
12-7921618-G-C		not specified	Uncertain significance (Mar 17, 2023)
12-7922812-T-A			Likely benign (Mar 29, 2018)
12-7922827-G-A			Benign (Jul 17, 2018)
12-7922867-T-C		not specified	Uncertain significance (May 23, 2023)
12-7922889-T-C		not specified	Uncertain significance (Jun 11, 2021)
12-7922966-A-C		not specified	Uncertain significance (Jul 21, 2021)
12-7922984-A-G		not specified	Uncertain significance (Oct 29, 2021)
12-7924406-C-T			Benign (Dec 31, 2019)
12-7924480-G-A		not specified	Uncertain significance (Jan 16, 2024)
12-7929702-C-A		not specified	Uncertain significance (Oct 26, 2022)
12-7929719-G-A		not specified	Uncertain significance (Jan 31, 2023)
12-7929733-A-G		not specified	Uncertain significance (May 31, 2023)
12-7929734-T-C		not specified	Uncertain significance (Sep 07, 2022)
12-7929800-T-C		not specified	Uncertain significance (Jun 24, 2022)
12-7930512-A-G		not specified	Uncertain significance (Feb 13, 2024)
12-7930596-A-T		not specified	Uncertain significance (May 07, 2024)
12-7930599-G-A		not specified	Uncertain significance (Mar 07, 2023)
12-7930650-C-T			Likely benign (Aug 16, 2017)
12-7931265-C-T		not specified	Likely benign (Jul 09, 2021)
12-7931269-G-T			Likely benign (Sep 01, 2017)
12-7931289-T-A		not specified	Uncertain significance (Dec 17, 2021)
12-7931310-C-G		not specified	Uncertain significance (Apr 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A3	protein_coding	protein_coding	ENST00000075120	10	17046

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0103	0.988	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	237	286	0.828	0.0000161	3200
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000797	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000326	0.000326

dbNSFP

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}.
• Pathway: 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;Glycolysis and Gluconeogenesis;Neutrophil degranulation;Vitamin C (ascorbate) metabolism;Innate Immune System;Immune System;Metabolism;SLC-mediated transmembrane transport;Transport of small molecules;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors;Fructose and mannose metabolism;Galactose metabolism;Vitamin C metabolism;Cellular hexose transport (Consensus)

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.345
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• pHI: 0.358
• hipred: N
• hipred_score: 0.380
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.284

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc2a3
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: slc2a3a
• Affected structure: blood vessel
• Phenotype tag: abnormal
• Phenotype quality: permeable

Gene ontology

• Biological process: carbohydrate metabolic process;L-ascorbic acid metabolic process;neutrophil degranulation;dehydroascorbic acid transport;glucose transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;secretory granule membrane;specific granule membrane;cell projection;perikaryon;extracellular exosome;tertiary granule membrane;ficolin-1-rich granule membrane
• Molecular function: glucose transmembrane transporter activity;glucose binding;dehydroascorbic acid transmembrane transporter activity;D-glucose transmembrane transporter activity