SLC2A8

protein-coding

solute carrier family 2 member 8, the group of Solute carrier family 2

Gene summary

This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

MANE transcript

NM_014580.5

Inheritance

—

ClinVar variants

U:84B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr9:127,397,138-127,408,424

External References & Databases

Ensembl (ENSG00000136856)

Transcript & Mutation Effects

hg38 • Region Span ~11.3 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 SLC2A8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014580.5. 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	2 clinvar		4
missense			81 clinvar	2 clinvar	1 clinvar	84
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	84	4	2	90

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 115 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014580.5	RefSeq	NP_055395.2	10	MANE Select
ENST00000373371.8	Ensembl	ENSP00000362469.3	10	MANE Select
NM_001271711.2	RefSeq	NP_001258640.1	9	Standard
NM_001271712.2	RefSeq	NP_001258641.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors Meta-Pathway
NRF2 pathway
Vesicle-mediated transport
Membrane Trafficking
SLC-mediated transmembrane transport

Biological Process

response to hypoxia
carbohydrate metabolic process
male meiosis I
insulin receptor signaling pathway
hexose transmembrane transport

Molecular Function

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

Cellular Component

lysosomal membrane
plasma membrane
integral component of plasma membrane
synaptic vesicle
clathrin-coated vesicle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373371
Coding exons: 10
Length: 11283
Individuals with no LoFs: 125355
Homozygous LoFs: 0
Heterozygous LoFs: 374
Defined: 125729
p: 0.00149

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.349	246	262	0.939	0.0000154	2982
Missense (PolyPhen)		85	80.393	1.0573		949
Synonymous	0.976	107	121	0.887	0.00000809	1031
Loss of Function	1.26	12	17.7	0.678	7.58e-7	206

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.0019	0.0019	notable
Ashkenazi Jewish	0.0045	0.0045	notable
East Asian	0.0030	0.0027	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.0014	0.0014	notable
South Asian	0.0013	0.0013	notable
Other	0.0020	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.195

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.342

Gene Damage Prediction

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