| Tag | Content |
|---|---|
| Uniprot ID | P28481; Q61428; Q62031; Q62032; Q62033; Q641K3; Q6LDB1; Q6LDI8; Q6LDI9; Q80VY3; Q80X38; Q8CEF7; Q8K0N6; |
| Entrez ID | 12824 |
| Genbank protein ID | AAA68102.1; AAA68100.1; AAH82331.1; AAA37436.1; AAC06113.1; BAC25865.1; AAH52326.1; AAB19627.1; AAA68099.1; AAH51383.1; AAH30913.1; AAA37435.1; CAA41047.1; AAA68101.1; |
| Genbank nucleotide ID | NM_031163.3; NM_001113515.2; |
| Ensembl protein ID | ENSMUSP00000023123; ENSMUSP00000085693; |
| Ensembl nucleotide ID | ENSMUSG00000022483 |
| Gene name | Collagen alpha-1(II) chain |
| Gene symbol | Col2a1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 7276808; 22028304; 15132997; 24475193; 12917109; 7590256; 1618904; |
| Functional description | 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. |
| Sequence | MIRLGAPQSL VLLTLLIAAV LRCQGQDAQE AGSCLQNGQR YKDKDVWKPS SCRICVCDTG 60 NVLCDDIICE DPDCLNPEIP FGECCPICPA DLATASGKLG PKGQKGEPGD IRDIIGPRGP 120 PGPQGPAGEQ GPRGDRGDKG EKGAPGPRGR DGEPGTPGNP GPAGPPGPPG PPGLSAGNFA 180 AQMAGGYDEK AGGAQMGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG 240 PRGPPGPAGK PGDDGEAGKP GKSGERGLPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG 300 EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG 360 PAGGPGFPGA PGAKGEAGPT GARGPEGAQG SRGEPGNPGS PGPAGASGNP GTDGIPGAKG 420 SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQAGEPGI AGFKGDQGPK GETGPAGPQG 480 APGPAGEEGK RGARGEPGGA GPIGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLTG 540 PKGANGDPGR PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG 600 VMGFPGPKGA NGEPGKAGEK GLAGAPGLRG LPGKDGETGA AGPPGPSGPA GERGEQGAPG 660 PSGFQGLPGP PGPPGEGGKQ GDQGIPGEAG APGLVGPRGE RGFPGERGSP GAQGLQGPRG 720 LPGTPGTDGP KGAAGPDGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG 780 KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PSGSTGARGA PGERGETGPP GPAGFAGPPG 840 ADGQPGAKGD QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG 900 AAGRVGPPGA NGNPGPAGPP GPAGKDGPKG VRGDSGPPGR AGDPGLQGPA GAPGEKGEPG 960 DDGPSGLDGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG 1020 PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGALGAPGAP GPPGSPGPAG 1080 PTGKQGDRGE AGAQGPMGPS GPAGARGIAG PQGPRGDKGE SGEQGERGLK GHRGFTGLQG 1140 LPGPPGPSGD QGASGPAGPS GPRGPPGPVG PSGKDGSNGI PGPIGPPGPR GRSGETGPVG 1200 PPGSPGPPGP PGPPGPGIDM SAFAGLGQRE KGPDPMQYMR ADEADSTLRQ HDVEVDATLK 1260 SLNNQIESIR SPDGSRKNPA RTCQDLKLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG 1320 ETCVYPNPAT VPRKNWWSSK SKEKKHIWFG ETMNGGFHFS YGDGNLAPNT ANVQMTFLRL 1380 LSTEGSQNIT YHCKNSIAYL DEAAGNLKKA LLIQGSNDVE MRAEGNSRFT YTALKDGCTK 1440 HTGKWGKTVI EYRSQKTSRL PIIDIAPMDI GGAEQEFGVD IGPVCFL 1487 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | COL2A1 | 407142 | P02459 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | COL2A1 | A0A452E0F9 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | COL2A1 | 791241 | A0A5F5PIB7 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | COL2A1 | 1280 | P02458 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Col2a1 | 12824 | P28481 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | COL2A1 | 451860 | H2Q5S8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | COL2A1 | 100009005 | G1T5V9 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Col2a1 | F1LRM7 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IBA |
| GO:0042289 | MHC class II protein binding | ISO |
| GO:0042802 | identical protein binding | IPI |
| GO:0043394 | proteoglycan binding | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO:0048407 | platelet-derived growth factor binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001501 | skeletal system development | ISO |
| GO:0001501 | skeletal system development | IBA |
| GO:0001502 | cartilage condensation | IMP |
| GO:0001503 | ossification | IEP |
| GO:0001894 | tissue homeostasis | IMP |
| GO:0001958 | endochondral ossification | IMP |
| GO:0002062 | chondrocyte differentiation | IMP |
| GO:0002062 | chondrocyte differentiation | IEP |
| GO:0003007 | heart morphogenesis | IMP |
| GO:0006029 | proteoglycan metabolic process | IMP |
| GO:0007417 | central nervous system development | IEP |
| GO:0007601 | visual perception | ISO |
| GO:0007605 | sensory perception of sound | ISO |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0030198 | extracellular matrix organization | IBA |
| GO:0030199 | collagen fibril organization | ISO |
| GO:0030199 | collagen fibril organization | IMP |
| GO:0030199 | collagen fibril organization | IBA |
| GO:0030903 | notochord development | IBA |
| GO:0030903 | notochord development | IEP |
| GO:0035108 | limb morphogenesis | IMP |
| GO:0042472 | inner ear morphogenesis | IMP |
| GO:0048705 | skeletal system morphogenesis | IMP |
| GO:0048839 | inner ear development | IMP |
| GO:0051216 | cartilage development | IMP |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060174 | limb bud formation | IEP |
| GO:0060272 | embryonic skeletal joint morphogenesis | ISO |
| GO:0060348 | bone development | IMP |
| GO:0060351 | cartilage development involved in endochondral bone morphogenesis | IMP |
| GO:0071599 | otic vesicle development | IEP |
| GO:0071773 | cellular response to BMP stimulus | IDA |
| GO:0097065 | anterior head development | IMP |
| GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005581 | collagen trimer | IDA |
| GO:0005581 | collagen trimer | IBA |
| GO:0005585 | collagen type II trimer | ISO |
| GO:0005585 | collagen type II trimer | IBA |
| GO:0005585 | collagen type II trimer | IMP |
| GO:0005585 | collagen type II trimer | IDA |
| GO:0005604 | basement membrane | IDA |
| GO:0005615 | extracellular space | ISO |
| GO:0005615 | extracellular space | IDA |
| GO:0005615 | extracellular space | IBA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0031012 | extracellular matrix | IDA |
| GO:0031012 | extracellular matrix | IBA |
| GO:0062023 | collagen-containing extracellular matrix | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1266738 | Developmental Biology | IEA |
| R-MMU-1280218 | Adaptive Immune System | IEA |
| R-MMU-1442490 | Collagen degradation | IEA |
| R-MMU-1474228 | Degradation of the extracellular matrix | IEA |
| R-MMU-1474244 | Extracellular matrix organization | IEA |
| R-MMU-1474290 | Collagen formation | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-1650814 | Collagen biosynthesis and modifying enzymes | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-186797 | Signaling by PDGF | IEA |
| R-MMU-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | IEA |
| R-MMU-2022090 | Assembly of collagen fibrils and other multimeric structures | IEA |
| R-MMU-216083 | Integrin cell surface interactions | IEA |
| R-MMU-3000171 | Non-integrin membrane-ECM interactions | IEA |
| R-MMU-3000178 | ECM proteoglycans | IEA |
| R-MMU-375165 | NCAM signaling for neurite out-growth | IEA |
| R-MMU-419037 | NCAM1 interactions | IEA |
| R-MMU-422475 | Axon guidance | IEA |
| R-MMU-6806834 | Signaling by MET | IEA |
| R-MMU-8874081 | MET activates PTK2 signaling | IEA |
| R-MMU-8875878 | MET promotes cell motility | IEA |
| R-MMU-8948216 | Collagen chain trimerization | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0025 | Alternative splicing |
| KW-0106 | Calcium |
| KW-0176 | Collagen |
| KW-0225 | Disease mutation |
| KW-1015 | Disulfide bond |
| KW-0272 | Extracellular matrix |
| KW-0325 | Glycoprotein |
| KW-0379 | Hydroxylation |
| KW-0479 | Metal-binding |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0964 | Secreted |
| KW-0732 | Signal |