Gene

GCK

glucokinase

Cytogenetic location: 7p13
Coordinates: Chromosome 7: 44,144,275–44,189,439 (GRCh38)
Exons: 10 exons across 45.2 kb
Protein: 465 amino acids
Inheritance: Autosomal dominant
Also known as: HK4, HKIV
Previous symbols: MODY2
MANE Select transcript: ENST00000403799.8NM_000162.5
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Diabetes Mellitus
- A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  What knowing changes
  Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
Hyperinsulinism
- Islet Cell AdenomatosisAutosomal dominant
  A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
- Abnormally high levels of insulin in the blood.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
Maturity-Onset Diabetes Of The Young
- Autosomal dominant
  MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile
Neonatal Diabetes Mellitus
- Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How a genome test reads GCK

439

positions in GCK where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 45.2 kb of GCK, introns included, not only the 2.7 kb of exons.

Variants with a page (385)

The GCK variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
A53V	c.158C>T	Exon 2	44,153,351	Pathogenic	3 stars out of 4 reviewed by expert panel
A188T	c.562G>A	Exon 5	44,149,986	Pathogenic	3 stars out of 4 reviewed by expert panel
A201S	c.601G>T	Exon 6	44,149,838	Pathogenic	3 stars out of 4 reviewed by expert panel
A208P	c.622G>C	Exon 6	44,149,817	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A208T	c.622G>A	Exon 6	44,149,817	Pathogenic	3 stars out of 4 reviewed by expert panel
A208V	c.623C>T	Exon 6	44,149,816	Pathogenic	3 stars out of 4 reviewed by expert panel
A259S	c.775G>T	Exon 7	44,147,738	Likely pathogenic	3 stars out of 4 reviewed by expert panel
A259T	c.775G>A	Exon 7	44,147,738	Pathogenic	3 stars out of 4 reviewed by expert panel
A259V	c.776C>T	Exon 7	44,147,737	Pathogenic	3 stars out of 4 reviewed by expert panel
A378Cfs*80	c.1132_1133del	Exon 9	44,145,616	Likely pathogenic	3 stars out of 4 reviewed by expert panel

See all 385 GCK variants →

Traits linked to GCK

The Human Phenotype Ontology lists these as features of the rare conditions GCK can cause. Each trait's page lists the other genes linked to it.

Laboratory abnormality

Show 16 more traits

Abnormality of the nervous system

Show 8 more traits

Growth abnormality

Abnormality of the genitourinary system

Abnormality of the digestive system

Abnormality of the musculoskeletal system

Abnormality of head or neck

Abnormality of the cardiovascular system

Abnormality of the endocrine system

Abnormality of the eye

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GCK gene: glucokinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/gck

Vancouver

Dante Labs. GCK gene: glucokinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gck

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