Gene
DOCK7
dedicator of cytokinesis 7
- HGNC 19190(opens in a new tab)
- Ensembl gene ENSG00000116641(opens in a new tab)
- NCBI Gene 85440(opens in a new tab)
Summary
- Cytogenetic location
- 1p31.3
- Coordinates
- Chromosome 1: 62,454,726–62,688,386 (GRCh38)
- Exons
- 50 exons across 233.7 kb
- Protein
- 2,140 amino acids
- Also known as
- KIAA1771, ZIR2
- MANE Select transcript
- ENST00000635253.2NM_001367561.1
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How DOCK7 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 7.2 kb of the gene's 233.7 kb; 6,423 of those bases code for the protein.
How a genome test reads DOCK7
84
positions in DOCK7 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 233.7 kb of DOCK7, introns included, not only the 7.2 kb of exons.
Traits linked to DOCK7
The Human Phenotype Ontology lists these as features of the rare conditions DOCK7 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epileptic encephalopathy
- Global developmental delay
- Absent speech development
- Autism
- Focal impaired awareness seizure
- Generalized tonic seizure
- Grand mal seizures
- Hypoplasia of the pons
Show 14 more traits
- Hypsarrhythmia
- Infantile spasms
- Intellectual disability
- Jerking
- Multifocal epileptiform discharges
- Occipital cortical atrophy
- Poor eye contact
- Poor speech
- Sudden loss of muscle tone
- Tonic seizure
- Underdevelopment of part of brain called corpus callosum
- Brief seizures with staring spells
- Inability to walk
- Repetitive movements
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.). DOCK7 gene: dedicator of cytokinesis 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/dock7
Dante Labs. DOCK7 gene: dedicator of cytokinesis 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dock7
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