SLC2A5

protein-coding

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

Gene summary

The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]

Previous symbols:

GLUT5

MANE transcript

NM_003039.3

Inheritance

—

ClinVar variants

U:81B:6

Top phenotype

Long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr1:9,035,106-9,088,478

External References & Databases

Ensembl (ENSG00000142583)

Transcript & Mutation Effects

hg38 • Region Span ~53.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC2A5 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 76

not providedTotal: 6

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003039.3. 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	1 clinvar		2
missense			76 clinvar	3 clinvar	1 clinvar	80
nonsense			1 clinvar	1 clinvar		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	81	5	1	87

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003039.3	RefSeq	NP_003030.1	12	MANE Select
ENST00000377424.9	Ensembl	ENSP00000366641.4	12	MANE Select
NM_001135585.2	RefSeq	NP_001129057.1	5	Standard
NM_001328619.2	RefSeq	NP_001315548.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Carbohydrate digestion and absorption - Homo sapiens (human)
Uric Acid-Lowering Drugs Pathway, Pharmacodynamics
Nuclear Receptors Meta-Pathway
NRF2 pathway
Glycolysis and Gluconeogenesis

Biological Process

regulation of systemic arterial blood pressure mediated by a chemical signal
carbohydrate metabolic process
response to fructose
fructose transmembrane transport
neutrophil degranulation

Molecular Function

fructose transmembrane transporter activity
glucose transmembrane transporter activity
fructose binding

Cellular Component

plasma membrane
integral component of plasma membrane
apical plasma membrane
specific granule membrane
sarcolemma

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377424
Coding exons: 12
Length: 53372
Individuals with no LoFs: 125618
Homozygous LoFs: 0
Heterozygous LoFs: 130
Defined: 125748
p: 0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.54	226	301	0.750	0.0000190	3198
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0040	0.0040	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.00092	0.00091	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.371

Intolerance Scores

LoFtool: 0.452
RVIS EVS: -0.2
RVIS percentile EVS: 39.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.556

Gene Damage Prediction

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