COL9A2 Chromosome 1
Collagen type IX alpha 2 chain
Upload your DNA to see your personal genotypes for variants in COL9A2.
What This Gene Does
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Collagen proteoglycans|Fibril associated collagens with interrupted triple helices"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000049089
Associated Conditions (20)
Epiphyseal dysplasia
multiple
2
COL9A2-related disorder
Stickler syndrome
type 5
Meniere disease
Connective tissue disorder
Inborn genetic diseases
Intervertebral disc disorder
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Lung cancer
Familial cancer of breast
Colorectal cancer
Malignant tumor of esophagus
Melanoma
Intellectual disability
See cases
Key Variants
RS1045951380
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS1057515453
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS115675008
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS1322708706
Conflicting classifications of pathogenicity
Health Risk
RS1328956233
Conflicting classifications of pathogenicity
Health Risk
RS138882727
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS141556170
Conflicting classifications of pathogenicity
Stickler syndrome, type 5, COL9A2-related disorder
Health Risk
RS142151614
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS142974512
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS143008970
Conflicting classifications of pathogenicity
COL9A2-related disorder, COL9A2-related disorder
Health Risk
RS144615318
Conflicting classifications of pathogenicity
Epiphyseal dysplasia, multiple, 2
Health Risk
RS146903539
Conflicting classifications of pathogenicity
COL9A2-related disorder, COL9A2-related disorder
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781428852 | Health Risk | Conflicting classifications of pathogenicity | Epiphyseal dysplasia, multiple, 2 |
| RS997566626 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064797109 | Health Risk | Likely pathogenic | — |
| RS1431787303 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1557793484 | Health Risk | Likely pathogenic | — |
| RS1644046939 | Health Risk | Likely pathogenic | — |
| RS1644101576 | Health Risk | Likely pathogenic | — |
| RS2124040438 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2124062571 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS2124082390 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2522513640 | Health Risk | Likely pathogenic | COL9A2-related disorder, COL9A2-related disorder |
| RS2522553864 | Health Risk | Likely pathogenic | — |
| RS2522561294 | Health Risk | Likely pathogenic | COL9A2-related disorder, COL9A2-related disorder |
| RS775401012 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS1204763173 | Health Risk | Pathogenic | — |
| RS1315693882 | Health Risk | Pathogenic | — |
| RS1376330691 | Health Risk | Pathogenic | — |
| RS1389944632 | Health Risk | Pathogenic | — |
| RS1557791071 | Health Risk | Pathogenic | — |
| RS1569763108 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS1569763139 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS1643950236 | Health Risk | Pathogenic | — |
| RS1643987343 | Health Risk | Pathogenic | — |
| RS1644052943 | Health Risk | Pathogenic | — |
| RS1644094173 | Health Risk | Pathogenic | — |
| RS1644101814 | Health Risk | Pathogenic | — |
| RS2124040785 | Health Risk | Pathogenic | — |
| RS2124053916 | Health Risk | Pathogenic | — |
| RS2522483565 | Health Risk | Pathogenic | — |
| RS2522557237 | Health Risk | Pathogenic | — |
| RS2522557278 | Health Risk | Pathogenic | — |
| RS2522569884 | Health Risk | Pathogenic | — |
| RS606231376 | Health Risk | Pathogenic | Stickler syndrome, type 5, Stickler syndrome |
| RS749888464 | Health Risk | Pathogenic | — |
| RS761125486 | Health Risk | Pathogenic | — |
| RS761837402 | Health Risk | Pathogenic | — |
| RS1040081238 | Health Risk | Pathogenic/Likely pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS1085307973 | Health Risk | Pathogenic/Likely pathogenic | Epiphyseal dysplasia, multiple, 2 |
| RS2522570520 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS781682527 | Health Risk | Pathogenic/Likely pathogenic | Stickler syndrome, Stickler syndrome |