Collagen type IX alpha 3 chain (COL9A3) Associated conditions: 1. Stickler syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001853.4 | NP_001844.3 | NC_000020.11 | (62816212..62841158) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Collagen type IX alpha 3 chain (COL9A3) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type IX alpha 3 chain (COL9A3)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 2 | Homo sapiens | IBA | part_of | collagen type IX trimer | Component | - |
| 3 | Homo sapiens | IDA | part_of | collagen type IX trimer | Component | 8660302 |
| 4 | Homo sapiens | TAS | part_of | collagen type IX trimer | Component | 8586434 |
| 5 | Homo sapiens | IBA | is_active_in | basement membrane | Component | - |
| 6 | Homo sapiens | IEA | located_in | endoplasmic reticulum lumen | Component | - |
| 7 | Homo sapiens | TAS | located_in | endoplasmic reticulum lumen | Component | - |
| 8 | Homo sapiens | IBA | enables | extracellular matrix structural constituent conferring tensile strength | Function | - |
| 9 | Homo sapiens | IC | enables | extracellular matrix structural constituent conferring tensile strength | Function | 8660302 |
| 10 | Homo sapiens | RCA | enables | extracellular matrix structural constituent conferring tensile strength | Function | 25037231 |
| 11 | Homo sapiens | IBA | involved_in | extracellular matrix organization | Process | - |
| 12 | Homo sapiens | HDA | located_in | extracellular matrix | Component | 25037231 |
| 13 | Homo sapiens | IPI | enables | protein homodimerization activity | Function | 8660302 |