| Tag | Content |
|---|---|
| Uniprot ID | P08122; Q3B7C2; Q3TPV9; Q61375; Q66JS5; Q6RCT6; Q6RCT7; Q6U9X1; Q8BPI9; Q8BPK3; Q91VI3; |
| Entrez ID | 12827 |
| Genbank protein ID | AAR89901.1; AAA37438.1; CAA26657.1; CAA27998.1; AAQ83370.1; CAA28308.1; AAA37341.1; AAR89902.1; BAE37626.1; AAI07686.1; AAH80789.1; CAA26658.1; AAA51626.1; BAC35863.1; AAH13560.2; CAA26655.1; AAA50293.1; CAB51614.1; BAC35559.1; |
| Genbank nucleotide ID | NM_009932.4 |
| Ensembl protein ID | ENSMUSP00000033899 |
| Ensembl nucleotide ID | ENSMUSG00000031503 |
| Gene name | Collagen alpha-2(IV) chain |
| Gene symbol | Col4a2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. |
| Sequence | MDRVRFKASG PPLRGWLLLA TVTVGLLAQS VLGGVKKLDV PCGGRDCSGG CQCYPEKGAR 60 GQPGAVGPQG YNGPPGLQGF PGLQGRKGDK GERGVPGPTG PKGDVGARGV SGFPGADGIP 120 GHPGQGGPRG RPGYDGCNGT RGDAGPQGPS GSGGFPGLPG PQGPKGQKGE PYALSKEDRD 180 KYRGEPGEPG LVGYQGPPGR PGPIGQMGPM GAPGRPGPPG PPGPKGQPGN RGLGFYGQKG 240 EKGDIGQPGP NGIPSDITLV GPTTSTIHPD LYKGEKGDEG EQGIPGVISK GEEGIMGFPG 300 IRGFPGLDGE KGVVGQKGSR GLDGFQGPSG PRGPKGERGE QGPPGPSVYS PHPSLAKGAR 360 GDPGFQGAHG EPGSRGEPGE PGTAGPPGPS VGDEDSMRGL PGEMGPKGFS GEPGSPARYL 420 GPPGADGRPG PQGVPGPAGP PGPDGFLFGL KGSEGRVGYP GPSGFPGTRG QKGWKGEAGD 480 CQCGQVIGGL PGLPGPKGFP GVNGELGKKG DQGDPGLHGI PGFPGFKGAP GVAGAPGPKG 540 IKGDSRTITT KGERGQPGIP GVHGMKGDDG VPGRDGLDGF PGLPGPPGDG IKGPPGDAGL 600 PGVPGTKGFP GDIGPPGQGL PGPKGERGFP GDAGLPGPPG FPGPPGPPGT PGQRDCDTGV 660 KRPIGGGQQV VVQPGCIEGP TGSPGQPGPP GPTGAKGVRG MPGFPGASGE QGLKGFPGDP 720 GREGFPGPPG FMGPRGSKGT TGLPGPDGPP GPIGLPGPAG PPGDRGIPGE VLGAQPGTRG 780 DAGLPGQPGL KGLPGETGAP GFRGSQGMPG MPGLKGQPGF PGPSGQPGQS GPPGQHGFPG 840 TPGREGPLGQ PGSPGLGGLP GDRGEPGDPG VPGPVGMKGL SGDRGDAGMS GERGHPGSPG 900 FKGMAGMPGI PGQKGDRGSP GMDGFQGMLG LKGRQGFPGT KGEAGFFGVP GLKGLPGEPG 960 VKGNRGDRGP PGPPPLILPG MKDIKGEKGD EGPMGLKGYL GLKGIQGMPG VPGVSGFPGL 1020 PGRPGFIKGV KGDIGVPGTP GLPGFPGVSG PPGITGFPGF TGSRGEKGTP GVAGVFGETG 1080 PTGDFGDIGD TVDLPGSPGL KGERGITGIP GLKGFFGEKG AAGDIGFPGI TGMAGAQGSP 1140 GLKGQTGFPG LTGLQGPQGE PGRIGIPGDK GDFGWPGVPG LPGFPGIRGI SGLHGLPGTK 1200 GFPGSPGVDA HGDPGFPGPT GDRGDRGEAN TLPGPVGVPG QKGERGTPGE RGPAGSPGLQ 1260 GFPGISPPSN ISGSPGDVGA PGIFGLQGYQ GPPGPPGPNA LPGIKGDEGS SGAAGFPGQK 1320 GWVGDPGPQG QPGVLGLPGE KGPKGEQGFM GNTGPSGAVG DRGPKGPKGD QGFPGAPGSM 1380 GSPGIPGIPQ KIAVQPGTLG PQGRRGLPGA LGEIGPQGPP GDPGFRGAPG KAGPQGRGGV 1440 SAVPGFRGDQ GPMGHQGPVG QEGEPGRPGS PGLPGMPGRS VSIGYLLVKH SQTDQEPMCP 1500 VGMNKLWSGY SLLYFEGQEK AHNQDLGLAG SCLARFSTMP FLYCNPGDVC YYASRNDKSY 1560 WLSTTAPLPM MPVAEEEIKP YISRCSVCEA PAVAIAVHSQ DTSIPHCPAG WRSLWIGYSF 1620 LMHTAAGDEG GGQSLVSPGS CLEDFRATPF IECNGGRGTC HYFANKYSFW LTTIPEQNFQ 1680 STPSADTLKA GLIRTHISRC QVCMKNL 1707 |
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 | COL4A2 | A0A452G6J0 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | COL4A2 | 1284 | P08572 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Col4a2 | 12827 | P08122 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | COL4A2 | 452661 | K7C8W0 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | COL4A2 | F1RLL9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Col4a2 | F1M6Q3 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| COL4A2 | c.4096G>A; p.D1366N | WES and Sanger sequencing | 26449438 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IBA |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001525 | angiogenesis | IEA |
| GO:0006351 | transcription, DNA-templated | IDA |
| GO:0007568 | aging | IEA |
| GO:0014823 | response to activity | IEA |
| GO:0016525 | negative regulation of angiogenesis | ISS |
| GO:0016525 | negative regulation of angiogenesis | ISO |
| GO:0030198 | extracellular matrix organization | IBA |
| GO:0035987 | endodermal cell differentiation | IEA |
| GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | IGI |
| GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | IBA |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | IEP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005576 | extracellular region | TAS |
| GO:0005587 | collagen type IV trimer | IDA |
| GO:0005587 | collagen type IV trimer | IBA |
| GO:0005604 | basement membrane | IDA |
| GO:0005615 | extracellular space | IBA |
| GO:0005615 | extracellular space | HDA |
| GO:0031012 | extracellular matrix | IBA |
| GO:0062023 | collagen-containing extracellular matrix | HDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1266738 | Developmental Biology | 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-186797 | Signaling by PDGF | IEA |
| R-MMU-2022090 | Assembly of collagen fibrils and other multimeric structures | IEA |
| R-MMU-216083 | Integrin cell surface interactions | IEA |
| R-MMU-2214320 | Anchoring fibril formation | IEA |
| R-MMU-2243919 | Crosslinking of collagen fibrils | IEA |
| R-MMU-3000157 | Laminin interactions | IEA |
| R-MMU-3000171 | Non-integrin membrane-ECM interactions | 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-8948216 | Collagen chain trimerization | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51403 | NC1_IV |