Gene
COL6A3
collagen type VI alpha 3 chain
- HGNC 2213(opens in a new tab)
- Ensembl gene ENSG00000163359(opens in a new tab)
- NCBI Gene 1293(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.3
- Coordinates
- Chromosome 2: 237,324,018–237,414,164 (GRCh38)
- Exons
- 44 exons across 90.1 kb
- Protein
- 3,177 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000295550.9NM_004369.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Muscular Dystrophies
- Collagen VI-related myopathy
A spectrum of muscle disorders caused by COL6A1, COL6A2 or COL6A3 variants, ranging from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, with weakness and joint contractures.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- 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).
- 4 GenCC submitters rate it definitive or strong
Dystonia, Myotonia, Paroxysmal Dyskinesia
- Dystonia 27Autosomal recessive
Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
- 1 GenCC submitter rates it definitive or strong
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- 1 GenCC submitter rates it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How COL6A3 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 10.5 kb of the gene's 90.1 kb; 9,534 of those bases code for the protein.
How a genome test reads COL6A3
150
positions in COL6A3 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 90.1 kb of COL6A3, introns included, not only the 10.5 kb of exons.
Traits linked to COL6A3
The Human Phenotype Ontology lists these as features of the rare conditions COL6A3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Distal joint hypermobility
- Low muscle tone
- Muscle weakness
- Neck flexion weakness
- Abnormal muscle fiber morphology
- EMG: myopathic abnormalities
- Flexed joint that cannot be straightened
- Generalized muscle weakness
Show 25 more traits
- Hunched back
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Increased wrist mobility
- Muscular dystrophy
- Progressive proximal muscle weakness
- Reduced muscle collagen VI
- Reduced spine movement
- Diffuse skeletal muscle wasting
- Frequent falls
- Generalized decreased muscle tone
- Joint contracture
- Kyphoscoliosis
- Multiple joint contractures
- Neck muscle weakness
- Proximal neurogenic muscle weakness
- Scoliosis
- Weak diaphragm
- Weakness of outermost muscles
- Axial muscle weakness
- Double-Jointed
- Excessive inward curvature of lower spine
- Gowers sign
- Reduced maximal expiratory pressure
- Rimmed vacuoles
Abnormality of limbs
- Hip contracture
- Pelvic girdle muscle weakness
- Weak shoulder muscles
- Ankle contracture
- Increased laxity of fingers
- Knee contracture
- Ankle flexion contracture
- Elbow flexion contracture
Show 16 more traits
- Hip dislocation
- Inability to straighten knee
- Interphalangeal joint contracture of finger
- Inward turned thumb
- Limb-girdle muscle weakness
- Long toe
- Permanent flexion of the finger
- Pes valgus
- Quadriceps weakness
- Slender finger
- Wrist flexion contracture
- Curved toe bone
- Dislocated hip since birth
- Foot drop
- Shortening of the achilles tendon
- Winged shoulder blade
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.). COL6A3 gene: collagen type VI alpha 3 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col6a3
Dante Labs. COL6A3 gene: collagen type VI alpha 3 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col6a3
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