SLC2A12

solute carrier family 2 member 12, the group of Solute carrier family 2

Basic information

Region (hg38): 6:133987581-134052624

Links

ENSG00000146411 ∙ NCBI:154091 ∙ OMIM:610372 ∙ HGNC:18067 ∙ Uniprot:Q8TD20 ∙ 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 SLC2A12 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 SLC2A12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145176.3. 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				3		3
missense			72	4		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A12	protein_coding	protein_coding	ENST00000275230	5	63940

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000555	0.973	125693	0	55	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	266	333	0.799	0.0000167	3979
Missense in Polyphen		95	135.46	0.7013		1628
Synonymous	-1.24	150	132	1.14	0.00000702	1300
Loss of Function	2.00	10	19.5	0.512	0.00000101	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000383	0.000383
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000255	0.000255
Middle Eastern	0.000218	0.000217
South Asian	0.0000980	0.0000980
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Facilitative glucose transporter. {ECO:0000250}.
• Pathway: Mesodermal Commitment 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: 0.138

Intolerance Scores

• loftool: 0.432
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.23

Haploinsufficiency Scores

• pHI: 0.511
• hipred: N
• hipred_score: 0.289
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc2a12

Zebrafish Information Network

• Gene name: slc2a12
• Affected structure: heart valve
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

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