Gene
COL4A2
collagen type IV alpha 2 chain
- HGNC 2203↗(opens in a new tab)
- Ensembl gene ENSG00000134871↗(opens in a new tab)
- NCBI Gene 1284↗(opens in a new tab)
Summary
- Cytogenetic location
- 13q34
- Coordinates
- Chromosome 13: 110,307,284–110,513,209 (GRCh38)
- Exons
- 48 exons across 205.9 kb
- Protein
- 1,712 amino acids
- Also known as
- FLJ22259, DKFZp686I14213
- MANE Select transcript
- ENST00000360467.7NM_001846.4
- 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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No Genome Test report reads COL4A2 yet. The test sequences your whole genome, so your data includes it all the same.
How COL4A2 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 6.4 kb of the gene's 205.9 kb; 5,139 of those bases code for the protein.
How a genome test reads COL4A2
35
positions in COL4A2 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 205.9 kb of COL4A2, introns included, not only the 6.4 kb of exons.
Traits linked to COL4A2
The Human Phenotype Ontology lists these as features of the rare conditions COL4A2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Cerebral palsy
- Colpocephaly
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed ability to walk
- Delayed speech and language development
- EEG with polyspike wave complexes
- Generalized-onset seizure
Show 13 more traits
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.
- 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.). COL4A2 gene: collagen type IV alpha 2 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col4a2
Dante Labs. COL4A2 gene: collagen type IV alpha 2 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col4a2
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