SLC2A5

solute carrier family 2 member 5, the group of Solute carrier family 2

Basic information

Region (hg38): 1:9035106-9088478

Previous symbols: [ "GLUT5" ]

Links

ENSG00000142583

∙ NCBI:6518 ∙ OMIM:138230 ∙ HGNC:11010 ∙ Uniprot:P22732 ∙ 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 SLC2A5 gene.

not_specified (68 variants)
not_provided (6 variants)
Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003039.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			67 clinvar	3 clinvar	1 clinvar	71
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A5	protein_coding	protein_coding	ENST00000377424	12	53372

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.57e-10	0.317	125618	0	130	125748	0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.54	226	301	0.750	0.0000190	3198
Missense in Polyphen		107	134.37	0.79634		1436
Synonymous	1.52	118	141	0.837	0.0000107	1049
Loss of Function	0.884	17	21.4	0.794	9.91e-7	246

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.00	0.00
East Asian	0.00403	0.00403
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.00403	0.00403
South Asian	0.000915	0.000915
Other	0.000658	0.000652

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions as a fructose transporter that has only low activity with other monosaccharides (PubMed:8333543). Can mediate the uptake of 2-deoxyglucose, but with low efficiency (PubMed:1695905). Essential for fructose uptake in the small intestine. Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose. Required for the development of high blood pressure in response to high dietary fructose intake (By similarity). {ECO:0000250|UniProtKB:Q9WV38, ECO:0000269|PubMed:1695905, ECO:0000269|PubMed:8333543}.;
Pathway: Carbohydrate digestion and absorption - Homo sapiens (human);Uric Acid-Lowering Drugs Pathway, Pharmacodynamics;Nuclear Receptors Meta-Pathway;NRF2 pathway;Glycolysis and Gluconeogenesis;Neutrophil degranulation;Innate Immune System;Immune System;Fructose and mannose metabolism;Intestinal hexose absorption;Intestinal absorption;Digestion and absorption (Consensus)

Recessive Scores

pRec: 0.371

Intolerance Scores

loftool: 0.452
rvis_EVS: -0.2
rvis_percentile_EVS: 39.17

Haploinsufficiency Scores

pHI: 0.145
hipred: N
hipred_score: 0.297
ghis: 0.557

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.556

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Slc2a5
Phenotype: vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype;

Gene ontology

Biological process: regulation of systemic arterial blood pressure mediated by a chemical signal;carbohydrate metabolic process;response to fructose;fructose transmembrane transport;neutrophil degranulation;cellular response to fructose stimulus;intestinal hexose absorption;glucose transmembrane transport;fructose import across plasma membrane
Cellular component: plasma membrane;integral component of plasma membrane;apical plasma membrane;specific granule membrane;sarcolemma;extracellular exosome
Molecular function: fructose transmembrane transporter activity;glucose transmembrane transporter activity;fructose binding