Gene
MAP3K20
mitogen-activated protein kinase kinase kinase 20
- HGNC 17797↗(opens in a new tab)
- Ensembl gene ENSG00000091436↗(opens in a new tab)
- NCBI Gene 51776↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q31.1
- Coordinates
- Chromosome 2: 173,075,846–173,268,015 (GRCh38)
- Exons
- 20 exons across 192.2 kb
- Protein
- 800 amino acids
- Also known as
- MLTKalpha, MLTKbeta, ZAK, MLTK, MLK7, MRK
- MANE Select transcript
- ENST00000375213.8NM_016653.3
- 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.
Read MAP3K20, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Congenital Myopathies
- Centronuclear myopathy (including X-linked myotubular myopathy)
Congenital myopathies with centrally placed nuclei in muscle fibers, caused by MTM1, DNM2, BIN1 and other genes; the X-linked myotubular form (MTM1) is often severe in boys.
- ClinGen rates the link strong
- 2 GenCC submitters rate it definitive or strong
How MAP3K20 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 3.9 kb of the gene's 192.2 kb; 2,403 of those bases code for the protein.
How a genome test reads MAP3K20
2
positions in MAP3K20 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 192.2 kb of MAP3K20, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
Traits linked to MAP3K20
The Human Phenotype Ontology lists these as features of the rare conditions MAP3K20 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
- Increased variability in muscle fiber diameter
- Proximal neurogenic muscle weakness
- Scoliosis
- Type 1 muscle fiber predominance
- Low muscle tone
- Muscle degeneration
- Progressive muscle weakness
Show 20 more traits
- Type 1 muscle fiber atrophy
- Abnormally shaped skeletal
- Decreased lung function due to weak breathing muscles
- Double-Jointed
- Fatigable weakness of bulbar muscles
- Flexed joint that cannot be straightened
- Increased endomysial connective tissue
- Poor head control
- Prominent swayback
- Rimmed vacuoles
- Tired easily
- Weakness of muscles of respiration
- Weakness of outermost muscles
- Funnel chest
- Generalized muscle weakness
- Kyphoscoliosis
- Muscle fiber splitting
- Muscle spasm
- Muscle weakness between ribs
- Poorly developed skeletal musculature
Abnormality of limbs
- Split hand
- Split foot
- 1-2 toe complete cutaneous syndactyly
- Absent/small bones of 3rd toe
- Absent/small bones of 4th toe
- Absent/small little toe bones
- Absent/small outermost 2nd toe bone
- Absent/small outermost big toe bone
Show 17 more traits
- Central polydactyly of feet
- Fused innermost bone of 2nd toe with the 2nd long bone of foot
- Increased size of calf muscles
- Webbed 4th-5th toes
- Webbed first and second toes
- Ankle flexion contracture
- Club feet
- Dislocated hip since birth
- Elbow flexion contracture
- Flexion contracture of finger
- Foot drop
- High-arched foot
- Hip contracture
- Inability to straighten knee
- Pelvic girdle muscle weakness
- Weak shoulder muscles
- Mesoaxial hand polydactyly
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.). MAP3K20 gene: mitogen-activated protein kinase kinase kinase 20. Retrieved 17 October 2026, from https://dantelabs.com/genes/map3k20
Dante Labs. MAP3K20 gene: mitogen-activated protein kinase kinase kinase 20 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/map3k20
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks