| Gene Symbol | COL2A1 |
|---|---|
| Entrez Gene | 1280 |
| Alt Symbol | ANFH, AOM, COL11A3, SEDC, STL1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | collagen, type II, alpha 1 |
| Other Description | alpha-1 type II collagen|arthroophthalmopathy, progressive (Stickler syndrome)|cartilage collagen|chondrocalcin|collagen II, alpha-1 polypeptide|collagen alpha-1(II) chain |
| Swissprots | Q14044 Q6LBY3 Q14045 Q96IT5 Q9UE43 A6NGA0 Q2V4X7 Q14046 P02458 Q14009 Q9UE40 Q9UE38 Q6LBY1 Q14056 Q1JQ82 Q6LBY2 Q9UE41 Q9UE39 Q12985 Q14058 Q99227 Q9UE42 Q14047 Q16672 |
| Accessions | AAA51997 AAA52037 AAA52039 AAA52051 AAA58428 AAA73873 AAB60370 AAC41772 AAD14239 AAD15286 AAD15287 CAA25092 CAA26223 CAA26224 CAA26225 CAA26226 CAA26227 CAA27041 CAA34278 CAA34279 CAA34280 CAA34281 CAA34282 CAA34283 CAA34284 CAA40330 CAI61687 CDM55396 CDM55577 EAW57966 EAW57967 EAW57968 EAW57969 EAW57970 P02458 AL834148 CAI46208 BC007252 AAH07252 BC116449 AAI16450 BT007205 AAP35869 HG504715 HG504716 LN608441 M63281 AAA52038 X06268 CAA29604 X13783 CAA32030 X16468 CAA34488 X16711 CAA34683 XM_006719242 XP_006719305 XM_011537928 XP_011536230 XM_011537929 XP_011536231 XM_011537930 XP_011536232 XM_011537931 XP_011536233 XM_011537932 XP_011536234 XM_011537933 XP_011536235 XM_011537934 XP_011536236 XM_011537935 XP_011536237 NM_001844 NP_001835 NM_033150 NP_149162 |
| Function | Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. |
| Subcellular Location | Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}. |
| Tissue Specificity | Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. {ECO:0000269|PubMed:2355003}. |
| Top Pathways | Focal adhesion, ECM-receptor interaction, Amoebiasis, Protein digestion and absorption, PI3K-Akt signaling pathway |