SLC2A6

solute carrier family 2 member 6, the group of Solute carrier family 2

Basic information

Region (hg38): 9:133471094-133479127

Links

ENSG00000160326 ∙ NCBI:11182 ∙ OMIM:606813 ∙ HGNC:11011 ∙ Uniprot:Q9UGQ3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cardiomyopathy (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC2A6 gene.

• not_specified (76 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017585.4. 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					1	1
missense			72	4	2	78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	4	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A6	protein_coding	protein_coding	ENST00000371899	10	8043

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000671	0.906	125706	0	24	125730	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.805	269	309	0.871	0.0000207	3133
Missense in Polyphen		105	141.54	0.74184		1413
Synonymous	-0.316	156	151	1.03	0.0000113	1139
Loss of Function	1.61	11	18.5	0.596	8.60e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000209	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.000222	0.000217
Finnish	0.0000552	0.0000462
European (Non-Finnish)	0.0000657	0.0000615
Middle Eastern	0.000222	0.000217
South Asian	0.000176	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Facilitative glucose transporter; binds cytochalasin B with low affinity.
• 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: 0.119

Intolerance Scores

• loftool: 0.371
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.6

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.251
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.335

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc2a6

Gene ontology

• Biological process: hexose transmembrane transport;proton transmembrane transport;glucose transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;membrane
• Molecular function: carbohydrate:proton symporter activity;glucose transmembrane transporter activity;D-glucose transmembrane transporter activity