Identity
HGNC
LOCATION
12q13.11
LOCUSID
ALIAS
ANFH,AOM,COL11A3,SEDC,STL1
FUSION GENES
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: 1280
MIM: 120140
HGNC: 2200
Ensembl: ENSG00000139219
Variants:
dbSNP: 1280
ClinVar: 1280
TCGA: ENSG00000139219
COSMIC: COL2A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139219 | ENST00000337299 | P02458 |
| ENSG00000139219 | ENST00000380518 | P02458 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38246255 | 2024 | The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity. | 0 |
| 38246255 | 2024 | The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity. | 0 |
| 36400164 | 2023 | Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. | 1 |
| 37107605 | 2023 | Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. | 0 |
| 37278761 | 2023 | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | 0 |
| 36400164 | 2023 | Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. | 1 |
| 37107605 | 2023 | Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. | 0 |
| 37278761 | 2023 | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | 0 |
| 34238052 | 2022 | Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1. | 3 |
| 35052477 | 2022 | Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I. | 1 |
| 35064646 | 2022 | A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I. | 2 |
| 35296718 | 2022 | Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype. | 1 |
| 35473494 | 2022 | Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene. | 2 |
| 35810711 | 2022 | Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis. | 0 |
| 34238052 | 2022 | Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1. | 3 |
Citation
Dessen P
COL2A1 (collagen type II alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46165/col2a1
