SLC2A11

solute carrier family 2 member 11, the group of Solute carrier family 2

Basic information

Region (hg38): 22:23856703-23886312

Links

ENSG00000133460 ∙ NCBI:66035 ∙ OMIM:610367 ∙ HGNC:14239 ∙ Uniprot:Q9BYW1 ∙ 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 SLC2A11 gene.

• not_specified (74 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001024939.4. 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						0
missense			70	4		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A11	protein_coding	protein_coding	ENST00000398356	12	29607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.23e-13	0.0612	125316	2	430	125748	0.00172

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.517	280	305	0.917	0.0000185	3183
Missense in Polyphen		98	114.29	0.85748		1307
Synonymous	0.191	132	135	0.979	0.00000886	1089
Loss of Function	0.407	20	22.1	0.907	0.00000103	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00230	0.00230
Ashkenazi Jewish	0.00	0.00
East Asian	0.00495	0.00490
Finnish	0.00217	0.00213
European (Non-Finnish)	0.000428	0.000422
Middle Eastern	0.00495	0.00490
South Asian	0.00631	0.00619
Other	0.00152	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Facilitative glucose transporter. {ECO:0000269|PubMed:12175779}.
• 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: 0.179

Intolerance Scores

• loftool: 0.970
• rvis_EVS: 0.76
• rvis_percentile_EVS: 86.8

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.146
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.353

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: slc2a11b
• Affected structure: xanthophore
• Phenotype tag: abnormal
• Phenotype quality: absent

Gene ontology

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