SLC37A4

Chr 11ADAR

solute carrier family 37 member 4

Also known as: CDG2W, G6PT, G6PT1, G6PT2, G6PT3, GSD1b, GSD1c, GSD1d

NCBI Gene: 2542 ENSG00000137700 UniProt: O43826 OMIM: 602671

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IIwMIM #619525

Glycogen storage disease IbMIM #232220

Glycogen storage disease IcMIM #232240

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Congenital disorder of glycosylation, type IIw; Glycogen storage disease Ib (+1); no ClinGen or GenCC tier

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

LOF*

Mechanism· G2P

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GeneReview available — SLC37A4

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SLC37A4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 80

582 rare PASS variants

Rare truncating (LoF)

1 in 950

112 rare PASS variants

Rare synonymous (reference)

1 in 230

243 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC37A4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 100	1 in 970
South Asian	~43k	1 in 67	1 in 1,000
Remaining (unassigned)	~30k	1 in 59	1 in 1,100
European (Finnish)	~27k	1 in 580	1 in 1,800
Admixed American	~22k	1 in 63	1 in 1,100
African / African American	~21k	1 in 89	1 in 530
East Asian	~20k	1 in 92	1 in 680
Ashkenazi Jewish	~13k	1 in 140	1 in 1,200
Middle Eastern	~2,884	1 in 62	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.