SLC2A8

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

Basic information

Region (hg38): 9:127397138-127408424

Links

ENSG00000136856 ∙ NCBI:29988 ∙ OMIM:605245 ∙ HGNC:13812 ∙ Uniprot:Q9NY64 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 35.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_014580.5	NP_055395.2	10	yes	-
ENST00000373371.8	ENSP00000362469.3	10	yes	-
NM_001271711.2	NP_001258640.1	9	-	-
NM_001271712.2	NP_001258641.1	7	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC2A8 gene.

• not_specified (80 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_014580.5. 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	2		4
missense			81	2	1	84
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	84	4	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A8	protein_coding	protein_coding	ENST00000373371	10	11283

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125355	0	374	125729	0.00149

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.349	246	262	0.939	0.0000154	2982
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00244	0.00243
Ashkenazi Jewish	0.00450	0.00448
East Asian	0.00296	0.00267
Finnish	0.00	0.00
European (Non-Finnish)	0.00137	0.00135
Middle Eastern	0.00296	0.00267
South Asian	0.00128	0.00127
Other	0.00196	0.00196

dbNSFP

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}.
• Pathway: Nuclear Receptors Meta-Pathway;NRF2 pathway;Vesicle-mediated transport;Membrane Trafficking;SLC-mediated transmembrane transport;Transport of small molecules;Fructose and mannose metabolism;Galactose metabolism;Clathrin-mediated endocytosis;Cellular hexose transport;Cargo recognition for clathrin-mediated endocytosis (Consensus)

Recessive Scores

• pRec: 0.195

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.342

Gene Damage Prediction

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

Gene ontology

• Biological process: response to hypoxia;carbohydrate metabolic process;male meiosis I;insulin receptor signaling pathway;hexose transmembrane transport;membrane organization;proton transmembrane transport;glucose transmembrane transport
• Cellular component: lysosomal membrane;plasma membrane;integral component of plasma membrane;synaptic vesicle;clathrin-coated vesicle membrane
• Molecular function: carbohydrate:proton symporter activity;glucose transmembrane transporter activity;glucose binding;D-glucose transmembrane transporter activity