Gene: COL2A1

Basic information

Tag Content
Uniprot ID G1T5V9
Entrez ID 100009005
Genbank protein ID
Genbank nucleotide ID NM_001195671.1
Ensembl protein ID ENSOCUP00000011756
Ensembl nucleotide ID ENSOCUG00000013629
Gene name Uncharacterized protein
Gene symbol COL2A1
Organism Oryctolagus cuniculus
NCBI taxa ID 9986
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MIRLGAPQTL VLLTLLVAAA LRCQGQDVQE AGSCVQEGKR YNDKDVWKPE PCRICVCDTG 60
TVLCDDIICE DTKDCLSPEI PFGECCPVCP TDLATASGKP GPKGQKGEPG DIKDIVGPKG 120
PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA 180
AQMAGGFDEK AGGAQMGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG 240
PRGPPGPPGK PGDDGEAGKP GKPGERGLPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG 300
EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG 360
PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS PGPAGASGNP GTDGIPGAKG 420
SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQTGEPGI AGFKGEQGPK GEPDPAGPQG 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 GAQGLQGARG 720
LPGTPGTDGP KGAPGPAGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG 780
KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PAGSAGARGA PGERGETGPP GPAGFAGPPG 840
ADGQPGAKGE QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG 900
AAGRVGPPGS NGNPGPPGPP GPSGKEGPKG ARGDSGPAGR AGDPGLQGPA GPPGLKGEPG 960
DSGPSGADGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG 1020
PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG 1080
PTGKQGDRGE AGAQGPMGPS GPAGARGIPG PQGPRGDKGE SGEPGERGLK GHRGFTGLQG 1140
LPGPPGPSGD QGAAGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG 1200
PPGNPGPPGP PGPPGPGIDM SAFAGLGQRE KGPDPLQYMR ADEAAGALRQ HDADVDATLK 1260
SLNNQIESIR SPEGSRKNPA RTCRDLQLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG 1320
ETCVYPNPAT VPKKNWWSSK SQKQQHVWFG ETINGGFHFS YGDSSLPPNT ANVQMTFLRL 1380
LSTEGSQNIT YHCKNSVAYL DEATGNLKKA LLLQGSNDVE IRAEGNSRFT YTVLQDGCTK 1440
HTGKWGKTVI EYRSQKTSRL PITDIAPMDI 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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCOL2A1407142P02459Bos taurusPredictionMore>>
1:1 orthologCOL2A1A0A452E0F9Capra hircusPredictionMore>>
1:1 orthologCOL2A1791241A0A5F5PIB7Equus caballusPredictionMore>>
1:1 orthologCOL2A11280P02458Homo sapiensPredictionMore>>
1:1 orthologCol2a112824P28481CPOMus musculusPublicationMore>>
1:1 orthologCOL2A1451860H2Q5S8Pan troglodytesPredictionMore>>
1:1 orthologCOL2A1100009005G1T5V9Oryctolagus cuniculusPredictionMore>>
1:1 orthologCol2a1F1LRM7Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005604 basement membrane
GO:0005585 collagen type II trimer
GO:0005737 cytoplasm
GO:0005615 extracellular space
GO:0005201 extracellular matrix structural constituent
GO:0042802 identical protein 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: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:0001894 tissue homeostasis
GO:0007601 visual perception

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR008160 Collagen
IPR000885 Fib_collagen_C
IPR001007 VWF_dom

PROSITE

PROSITE ID PROSITE Term
PS51461 NC1_FIB
PS01208 VWFC_1
PS50184 VWFC_2

Pfam

Pfam ID Pfam Term
PF01410 COLFI
PF01391 Collagen
PF00093 VWC