SLC2A6

protein-coding

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

Gene summary

Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]

MANE transcript

NM_017585.4

Inheritance

ClinVar variants

U:88B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr9:133,471,094-133,479,127

External References & Databases

Ensembl (ENSG00000160326)

Transcript & Mutation Effects

hg38 • Region Span ~8.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cardiomyopathyLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0004994

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC2A6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017585.4. 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			84 clinvar	4 clinvar	2 clinvar	90
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	88	4	3	95

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 62 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017585.4	RefSeq	NP_060055.2	10	MANE Select
ENST00000371899.9	Ensembl	ENSP00000360966.4	10	MANE Select
NM_001145099.2	RefSeq	NP_001138571.1	9	Standard
ENST00000371897.8	Ensembl	ENSP00000360964.4	9	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
proton transmembrane transport
glucose transmembrane transport

Molecular Function

carbohydrate:proton symporter activity
glucose transmembrane transporter activity
D-glucose transmembrane transporter activity

Cellular Component

plasma membrane
integral component of plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371899
Coding exons: 10
Length: 8043
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125730
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.805	269	309	0.871	0.0000207	3133
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000064	0.000062	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000055	0.000046	rare
European (Non-Finnish)	0.000066	0.000062	rare
South Asian	0.00018	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.119

Intolerance Scores

LoFtool: 0.371
RVIS EVS: -0.22
RVIS percentile EVS: 37.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.335

Gene Damage Prediction

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