| Tag | Content |
|---|---|
| Uniprot ID | P02459; Q28070; Q9XT24; Q9XT25; |
| Entrez ID | 407142 |
| Genbank protein ID | CAA26269.1; AAA30436.2; AAD42347.1; AAD42346.1; |
| Genbank nucleotide ID | NM_001001135.3 |
| Ensembl protein ID | ENSBTAP00000017505 |
| Ensembl nucleotide ID | ENSBTAG00000013155 |
| Gene name | Collagen alpha-1(II) chain |
| Gene symbol | COL2A1 |
| Organism | Bos taurus |
| NCBI taxa ID | 9913 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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 | MIRLGAPQTL VLLTLLVAAV LRCHGQDVQK AGSCVQDGQR YNDKDVWKPE PCRICVCDTG 60 TVLCDDIICE DMKDCLSPET PFGECCPICS ADLPTASGQP GPKGQKGEPG DIKDIVGPKG 120 PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA 180 AQMAGGFDEK AGGAQMGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG 240 PRGPPGPPGK PGDDGEAGKP GKSGERGPPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG 300 EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG 360 PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS PGPAGAAGNP GTDGIPGAKG 420 SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQTGEPGI AGFKGEQGPK GEPGPAGPQG 480 APGPAGEEGK RGARGEPGGA GPAGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLAG 540 PKGANGDPGR PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG 600 VMGFPGPKGA NGEPGKAGEK GLPGAPGLRG LPGKDGETGA AGPPGPAGPA GERGEQGAPG 660 PSGFQGLPGP PGPPGEGGKP GDQGVPGEAG APGLVGPRGE RGFPGERGSP GSQGLQGARG 720 LPGTPGTDGP KGAAGPAGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG 780 KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PAGTAGARGA PGERGETGPP GPAGFAGPPG 840 ADGQPGAKGE QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG 900 AAGRVGPPGS NGNPGPPGPP GPSGKDGPKG ARGDSGPPGR AGDPGLQGPA GPPGEKGEPG 960 DDGPSGPDGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG 1020 PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG 1080 PIGKQGDRGE AGAQGPMGPA GPAGARGMPG PQGPRGDKGE TGEAGERGLK GHRGFTGLQG 1140 LPGPPGPSGD QGASGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG 1200 PPGNPGPPGP PGPPGPGIDM SAFAGLGQRE KGPDPLQYMR ADEAAGNLRQ HDAEVDATLK 1260 SLNNQIESLR SPEGSRKNPA RTCRDLKLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG 1320 ETCVYPNPAS VPKKNWWSSK SKDKKHIWFG ETINGGFHFS YGDDNLAPNT ANVQMTFLRL 1380 LSTEGSQNIT YHCKNSIAYL DEAAGNLKKA LLIQGSNDVE IRAEGNSRFT YTVLKDGCTK 1440 HTGKWGKTMI EYRSQKTSRL PIIDIAPMDI GGPEQEFGVD 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 |
|---|---|
| GO:0005604 | basement membrane |
| GO:0005581 | collagen trimer |
| GO:0005585 | collagen type II trimer |
| GO:0005737 | cytoplasm |
| GO:0031012 | extracellular matrix |
| GO:0005576 | extracellular region |
| GO:0005615 | extracellular space |
| GO:0005201 | extracellular matrix structural constituent |
| GO:0042802 | identical protein binding |
| GO:0046872 | metal ion binding |
| GO:0042289 | MHC class II protein binding |
| GO:0048407 | platelet-derived growth factor binding |
| GO:0043394 | proteoglycan binding |
| GO:0097065 | anterior head development |
| GO:0001502 | cartilage condensation |
| GO:0060351 | cartilage development involved in endochondral bone morphogenesis |
| GO:0071773 | cellular response to BMP stimulus |
| GO:0007417 | central nervous system development |
| GO:0002062 | chondrocyte differentiation |
| GO:0030199 | collagen fibril organization |
| GO:0060272 | embryonic skeletal joint morphogenesis |
| GO:0001958 | endochondral ossification |
| GO:0030198 | extracellular matrix organization |
| GO:0003007 | heart morphogenesis |
| GO:0042472 | inner ear morphogenesis |
| GO:0060174 | limb bud formation |
| GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| GO:0030903 | notochord development |
| GO:0071599 | otic vesicle development |
| GO:0006029 | proteoglycan metabolic process |
| GO:0010468 | regulation of gene expression |
| GO:0060021 | roof of mouth development |
| GO:0007605 | sensory perception of sound |
| GO:0001501 | skeletal system development |
| GO:0001894 | tissue homeostasis |
| GO:0007601 | visual perception |