Gene
DOK7
docking protein 7
- HGNC 26594(opens in a new tab)
- Ensembl gene ENSG00000175920(opens in a new tab)
- NCBI Gene 285489(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.3
- Coordinates
- Chromosome 4: 3,463,306–3,494,482 (GRCh38)
- Exons
- 7 exons across 31.2 kb
- Protein
- 504 amino acids
- Also known as
- FLJ33718, FLJ39137, Dok-7
- Previous symbols
- C4orf25
- MANE Select transcript
- ENST00000340083.6NM_173660.5
- 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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Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome (All Types)
Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.
How DOK7 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.6 kb of the gene's 31.2 kb; 1,515 of those bases code for the protein.
How a genome test reads DOK7
128
positions in DOK7 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 31.2 kb of DOK7, introns included, not only the 2.6 kb of exons.
Traits linked to DOK7
The Human Phenotype Ontology lists these as features of the rare conditions DOK7 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Weakness of facial musculature
- Little lower jaw
- Cleft palate
- Cystic hygroma
- Depressed nasal bridge
- Wasting of the tongue
- Dandy-Walker malformation
- Downward slanting of the opening between the eyelids
Show 1 more trait
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). DOK7 gene: docking protein 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/dok7
Dante Labs. DOK7 gene: docking protein 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dok7
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