ADPGK

Chr 15

ADP dependent glucokinase

Also known as: 2610017G09Rik, ADP-GK

NCBI Gene: 83440 ENSG00000159322 UniProt: Q9BRR6 OMIM: 611861

ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.71LOEUF

pLI 0.005

Z-score 2.46

OE 0.38 (0.21–0.71)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.02Z-score

OE missense 0.82 (0.73–0.92)

211 obs / 256.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.38 (0.21–0.71)

0≤0.351.4

Missense OE?0.82 (0.73–0.92)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 7 / 18.4Missense obs/exp: 211 / 256.8Syn Z: -0.02

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

617 rare PASS variants

Rare truncating (LoF)

1 in 1,700

93 rare PASS variants

Rare synonymous (reference)

1 in 200

274 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ADPGK. 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 120	1 in 1,600
South Asian	~43k	1 in 94	1 in 1,400
Remaining (unassigned)	~30k	1 in 120	1 in 3,700
European (Finnish)	~27k	1 in 220	≈ 1 in 8,900
Admixed American	~22k	1 in 160	1 in 2,500
African / African American	~21k	1 in 110	1 in 1,300
East Asian	~20k	1 in 95	1 in 710
Ashkenazi Jewish	~13k	1 in 730	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 110	none seen

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): 6 of 7 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 7.? see exons ↓