GALK2

Chr 15

galactokinase 2

Also known as: GK2

NCBI Gene: 2585 ENSG00000156958 UniProt: Q01415 OMIM: 137028

This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

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 GALK2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 96

652 rare PASS variants

Rare truncating (LoF)

1 in 560

108 rare PASS variants

Rare synonymous (reference)

1 in 320

195 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GALK2. 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 170	1 in 1,000
South Asian	~43k	1 in 140	1 in 1,500
Remaining (unassigned)	~30k	1 in 100	1 in 470
European (Finnish)	~27k	1 in 330	1 in 1,300
Admixed American	~22k	1 in 84	1 in 470
African / African American	~21k	1 in 77	1 in 350
East Asian	~20k	1 in 77	1 in 630
Ashkenazi Jewish	~13k	1 in 510	none seen
Middle Eastern	~2,884	1 in 100	≈ 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.

Exome coverage (gnomAD): 9 of 10 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 10.? see exons ↓