Identity
HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
DFNA13,DFNB53,FBCG2,HKE5,OSMEDA,OSMEDB,PARP,STL3
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1302
MIM: 120290
HGNC: 2187
Ensembl: ENSG00000204248
Variants:
dbSNP: 1302
ClinVar: 1302
TCGA: ENSG00000204248
COSMIC: COL11A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000204248 | ENST00000341947 | A0A0C4DFS1 |
| ENSG00000204248 | ENST00000361917 | H0YIS1 |
| ENSG00000204248 | ENST00000374708 | Q4VXY6 |
| ENSG00000204248 | ENST00000395194 | P13942 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34009784 | 2023 | Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. | 2 |
| 37462524 | 2023 | COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. | 4 |
| 37646720 | 2023 | Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. | 0 |
| 34009784 | 2023 | Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. | 2 |
| 37462524 | 2023 | COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. | 4 |
| 37646720 | 2023 | Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. | 0 |
| 36553626 | 2022 | The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. | 1 |
| 36553626 | 2022 | The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. | 1 |
| 32396528 | 2020 | Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. | 4 |
| 33348901 | 2020 | Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. | 5 |
| 32396528 | 2020 | Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. | 4 |
| 33348901 | 2020 | Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. | 5 |
| 30548218 | 2019 | Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population. | 7 |
| 30548218 | 2019 | Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population. | 7 |
| 30156925 | 2018 | The uncommon occurrence of two common inherited disorders in a single patient: a mini case series. | 0 |
Citation
Dessen P
COL11A2 (collagen type XI alpha 2 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46030/col11a2
