Collagen type XI alpha 2 chain (COL11A2) Associated conditions: 1. Stickler syndrome 2. Otospondylomegaepiphyseal dysplasia
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 2 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 3 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 4 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 5 | REVIEWED | NM_080680.3 | NP_542411.2 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 7 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 8 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 9 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 10 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 11 | REVIEWED | NM_080679.3 | NP_542410.2 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 12 | REVIEWED | NM_080679.3 | NP_542410.2 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 14 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 15 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 16 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 17 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 18 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 19 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 20 | REVIEWED | NR_187605.1 | - | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 21 | REVIEWED | NR_187605.1 | - | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 22 | REVIEWED | NR_187605.1 | - | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 23 | REVIEWED | NR_187605.1 | - | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 24 | REVIEWED | NR_187605.1 | - | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 25 | REVIEWED | NR_187605.1 | - | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 26 | REVIEWED | NR_187605.1 | - | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 27 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 28 | REVIEWED | NM_001424112.1 | NP_001411041.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 29 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 30 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 31 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 32 | REVIEWED | NM_080681.3 | NP_542412.2 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 33 | REVIEWED | NM_080681.3 | NP_542412.2 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 34 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 35 | REVIEWED | NM_080680.3 | NP_542411.2 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 36 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 37 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 38 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 39 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 40 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 41 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 42 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 43 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 44 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 45 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 46 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 47 | REVIEWED | NM_001424108.1 | NP_001411037.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 48 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 49 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 50 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 51 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 52 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 53 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 54 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 55 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 56 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
| 57 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 58 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 59 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 60 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 61 | REVIEWED | NM_001424111.1 | NP_001411040.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 62 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 63 | REVIEWED | NM_001163771.2 | NP_001157243.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 64 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_167247.2 | (4598651..4629529, complement) | Reference GRCh38.p14 ALT_REF_LOCI_5 | - |
| 65 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_167246.2 | (4582166..4613045, complement) | Reference GRCh38.p14 ALT_REF_LOCI_4 | - |
| 66 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_167245.2 | (4406192..4437017, complement) | Reference GRCh38.p14 ALT_REF_LOCI_3 | - |
| 67 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NT_113891.3 | (4574201..4605025, complement) | Reference GRCh38.p14 ALT_REF_LOCI_2 | - |
| 68 | REVIEWED | NM_001424110.1 | NP_001411039.1 | NC_000006.12 | (33162693..33193518, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 69 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_167249.2 | (4611339..4639205, complement) | Reference GRCh38.p14 ALT_REF_LOCI_7 | - |
| 70 | REVIEWED | NM_001424109.1 | NP_001411038.1 | NT_167248.2 | (4357097..4387976, complement) | Reference GRCh38.p14 ALT_REF_LOCI_6 | - |
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 XI alpha 2 chain (COL11A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type XI alpha 2 chain (COL11A2)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IMP | involved_in | skeletal system development | Process | 10677296 |
| 2 | Homo sapiens | NAS | involved_in | skeletal system development | Process | 7859284 8838804 |
| 3 | Homo sapiens | IEA | enables | extracellular matrix structural constituent | Function | - |
| 4 | Homo sapiens | IPI | enables | protein binding | Function | 17703188 |
| 5 | Homo sapiens | IEA | located_in | extracellular region | Component | - |
| 6 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 7 | Homo sapiens | IDA | part_of | collagen type II trimer | Component | 24113490 |
| 8 | Homo sapiens | NAS | part_of | collagen type XI trimer | Component | 7859284 8838804 |
| 9 | Homo sapiens | IEA | located_in | endoplasmic reticulum lumen | Component | - |
| 10 | Homo sapiens | TAS | located_in | endoplasmic reticulum lumen | Component | - |
| 11 | Homo sapiens | IBA | involved_in | sensory perception of sound | Process | - |
| 12 | Homo sapiens | IEA | involved_in | sensory perception of sound | Process | - |
| 13 | Homo sapiens | IMP | acts_upstream_of_or_within | sensory perception of sound | Process | 10581026 |
| 14 | Homo sapiens | IMP | involved_in | sensory perception of sound | Process | 9188673 10677296 16033917 |
| 15 | Homo sapiens | HDA | enables | extracellular matrix structural constituent conferring tensile strength | Function | 28344315 |
| 16 | Homo sapiens | IBA | enables | extracellular matrix structural constituent conferring tensile strength | Function | - |
| 17 | Homo sapiens | NAS | enables | extracellular matrix structural constituent conferring tensile strength | Function | 7859284 8838804 |
| 18 | Homo sapiens | RCA | enables | extracellular matrix structural constituent conferring tensile strength | Function | 28675934 |
| 19 | Homo sapiens | IBA | involved_in | collagen fibril organization | Process | - |
| 20 | Homo sapiens | IDA | involved_in | collagen fibril organization | Process | 9188673 |
| 21 | Homo sapiens | IEA | involved_in | collagen fibril organization | Process | - |
| 22 | Homo sapiens | NAS | enables | protein-macromolecule adaptor activity | Function | 10677296 |
| 23 | Homo sapiens | HDA | located_in | extracellular matrix | Component | 28344315 28675934 |
| 24 | Homo sapiens | IBA | is_active_in | extracellular matrix | Component | - |
| 25 | Homo sapiens | NAS | located_in | extracellular matrix | Component | 17876790 |
| 26 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 27 | Homo sapiens | IBA | involved_in | skeletal system morphogenesis | Process | - |
| 28 | Homo sapiens | IBA | involved_in | cartilage development | Process | - |
| 29 | Homo sapiens | IEA | involved_in | cartilage development | Process | - |
| 30 | Homo sapiens | IMP | involved_in | cartilage development | Process | 9188673 |
| 31 | Homo sapiens | IMP | involved_in | roof of mouth development | Process | 12673280 |
| 32 | Homo sapiens | IMP | involved_in | soft palate development | Process | 10677296 |