SLC2A7

protein-coding

solute carrier family 2 member 7, the group of Solute carrier family 2

Gene summary

SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_207420.3

Inheritance

—

ClinVar variants

U:100B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.22

Max pathogenic AF

—

Genomic locus

chr1:9,002,973-9,026,423

External References & Databases

Ensembl (ENSG00000197241)

Transcript & Mutation Effects

hg38 • Region Span ~23.5 kb

Loading mutation effect viewer...

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 SLC2A7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 103

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207420.3. 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				2 clinvar	1 clinvar	3
missense			99 clinvar	6 clinvar	2 clinvar	107
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	8	3	111

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207420.3	RefSeq	NP_997303.2	12	MANE Select
ENST00000400906.2	Ensembl	ENSP00000383698.1	12	MANE Select
XM_011540824.3	RefSeq	XP_011539126.1	12	Standard
XM_011540825.3	RefSeq	XP_011539127.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors Meta-Pathway
NRF2 pathway
SLC-mediated transmembrane transport
Transport of small molecules
Fructose and mannose metabolism

Biological Process

hexose transmembrane transport

Molecular Function

sugar transmembrane transporter activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000400906
Coding exons: 12
Length: 23046
Individuals with no LoFs: 125102
Homozygous LoFs: 15
Heterozygous LoFs: 631
Defined: 125748
p: 0.00257

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0231	326	325	1.00	0.0000208	3236
Missense (PolyPhen)		102	109.55	0.93111		1167
Synonymous	-0.894	165	151	1.09	0.0000110	1111
Loss of Function	-0.990	28	22.9	1.22	0.00000123	238

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0010	0.0010	notable
Latino/Admixed American	0.0057	0.0055	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0011	0.0011	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00036	0.00035	rare
South Asian	0.012	0.012	notable
Other	0.0020	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: High-affinity transporter for glucose and fructose Does not transport galactose, 2-deoxy-d-glucose and xylose. {ECO:0000269|PubMed:15033637}.;

Recessive Scores

pRec: 0.173

Intolerance Scores

LoFtool: 0.748
RVIS EVS: 1.69
RVIS percentile EVS: 96.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.424

Gene Damage Prediction

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