SLC2A14

protein-coding

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

Gene summary

Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008]

Previous symbols:

SLC2A3P3

MANE transcript

NM_001286234.2

Inheritance

—

ClinVar variants

U:68B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.31

Max pathogenic AF

—

Genomic locus

chr12:7,812,512-7,891,148

External References & Databases

Ensembl (ENSG00000173262)

Transcript & Mutation Effects

hg38 • Region Span ~78.6 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 SLC2A14 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 71

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001286234.2. 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	1 clinvar		3
missense			65 clinvar	5 clinvar		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	68	6	0	74

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001286234.2	RefSeq	NP_001273163.1	10	MANE Select
ENST00000431042.7	Ensembl	ENSP00000407287.2	10	MANE Select
NM_001286233.2	RefSeq	NP_001273162.1	10	Standard
NM_001286235.2	RefSeq	NP_001273164.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors Meta-Pathway
NRF2 pathway
regulation of pgc-1a
insulin signaling pathway
SLC-mediated transmembrane transport

Biological Process

multicellular organism development
spermatogenesis
cell differentiation
glucose transmembrane transport

Molecular Function

D-glucose transmembrane transporter activity

Cellular Component

nucleus
plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000543909
Coding exons: 10
Length: 78637
Individuals with no LoFs: 125736
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125747
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.32	237	301	0.786	0.0000167	3376
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis. {ECO:0000250}.;

Recessive Scores

pRec: 0.128

Intolerance Scores

LoFtool: 0.113
RVIS EVS: -0.53
RVIS percentile EVS: 20.7

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.127

Gene Damage Prediction

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