SLC2A14

solute carrier family 2 member 14, the group of Solute carrier family 2

Basic information

Region (hg38): 12:7812511-7891148

Previous symbols: [ "SLC2A3P3" ]

Links

ENSG00000173262 ∙ NCBI:144195 ∙ OMIM:611039 ∙ HGNC:18301 ∙ Uniprot:Q8TDB8 ∙ 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 SLC2A14 gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A14 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			1			1
Total	0	0	12	1	0

Variants in SLC2A14

This is a list of pathogenic ClinVar variants found in the SLC2A14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-7814332-G-T		not specified	Uncertain significance (Nov 28, 2023)
12-7817887-C-T		not specified	Uncertain significance (Aug 16, 2021)
12-7819478-T-C			Benign (Jan 05, 2018)
12-7821270-T-C		not specified	Uncertain significance (Jan 10, 2023)
12-7827541-A-G		not specified	Uncertain significance (Jul 13, 2022)
12-7827587-C-T		not specified	Uncertain significance (May 30, 2023)
12-7827662-T-C		not specified	Uncertain significance (Feb 11, 2022)
12-7827673-C-T		not specified	Uncertain significance (Aug 02, 2022)
12-7828706-C-T		not specified	Uncertain significance (Jan 26, 2022)
12-7828707-G-A		not specified	Uncertain significance (Feb 12, 2024)
12-7828712-G-T		not specified	Uncertain significance (Oct 03, 2022)
12-7829792-T-C		not specified	Uncertain significance (Mar 28, 2023)
12-7829807-G-C		not specified	Uncertain significance (Jul 07, 2022)
12-7829834-T-C		not specified	Uncertain significance (Aug 02, 2022)
12-7829839-G-A		not specified	Uncertain significance (Dec 27, 2023)
12-7829914-A-T		not specified	Uncertain significance (Sep 20, 2023)
12-7831692-T-C		not specified	Uncertain significance (May 27, 2022)
12-7831752-A-G		not specified	Uncertain significance (Feb 09, 2023)
12-7832723-G-A		not specified	Likely benign (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC2A14	protein_coding	protein_coding	ENST00000543909	10	78637

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0412	0.958	125736	0	11	125747	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	237	301	0.786	0.0000167	3376
Missense in Polyphen		59	101.29	0.58247		1185
Synonymous	-0.317	125	121	1.04	0.00000734	1076
Loss of Function	2.85	6	19.6	0.306	9.13e-7	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis. {ECO:0000250}.
• Pathway: Nuclear Receptors Meta-Pathway;NRF2 pathway;regulation of pgc-1a;insulin signaling pathway;SLC-mediated transmembrane transport;Transport of small molecules;Fructose and mannose metabolism;Galactose metabolism;Cellular hexose transport;growth hormone signaling pathway (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.113
• rvis_EVS: -0.53
• rvis_percentile_EVS: 20.7

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.440
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

Gene ontology

• Biological process: multicellular organism development;spermatogenesis;cell differentiation;glucose transmembrane transport
• Cellular component: nucleus;plasma membrane;integral component of membrane
• Molecular function: D-glucose transmembrane transporter activity