SLC2A7

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

Basic information

Region (hg38): 1:9002973-9026423

Links

ENSG00000197241 ∙ NCBI:155184 ∙ OMIM:610371 ∙ HGNC:13445 ∙ Uniprot:Q6PXP3 ∙ 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 SLC2A7 gene.

• not_specified (92 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207420.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			87	6	2	95
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	87	8	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A7	protein_coding	protein_coding	ENST00000400906	12	23046

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.54e-21	0.000214	125102	15	631	125748	0.00257

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0231	326	325	1.00	0.0000208	3236
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00671	0.00671
Ashkenazi Jewish	0.00	0.00
East Asian	0.00114	0.00114
Finnish	0.00	0.00
European (Non-Finnish)	0.000359	0.000352
Middle Eastern	0.00114	0.00114
South Asian	0.0123	0.0121
Other	0.00196	0.00196

dbNSFP

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}.
• Pathway: Nuclear Receptors Meta-Pathway;NRF2 pathway;SLC-mediated transmembrane transport;Transport of small molecules;Fructose and mannose metabolism;Galactose metabolism;Cellular hexose transport (Consensus)

Recessive Scores

• pRec: 0.173

Intolerance Scores

• loftool: 0.748
• rvis_EVS: 1.69
• rvis_percentile_EVS: 96.42

Haploinsufficiency Scores

• pHI: 0.0861
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.424

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc2a7

Gene ontology

• Biological process: hexose transmembrane transport
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: sugar transmembrane transporter activity