Gene: COL2A1

Basic information

Tag Content
Uniprot ID A0A452E0F9
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSCHIP00000005497
Ensembl nucleotide ID ENSCHIG00000009616
Gene name Fibrillar collagen NC1 domain-containing protein
Gene symbol COL2A1
Organism Capra hircus
NCBI taxa ID 9925
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MFLVPGFPCF LATQGPGFKA SPISPRQPLP GSAQCSEHLC FGLQGARGFP GTPGLPGVKG 60
HRGYPGLDGA KGEAGAPGVK GESGSPGENG SPGPMGPRGL PGERGRTGPA GAAGARGNDG 120
QPGPAGPPGP VGPAGGPGFP GAPGAKGEAG PTGARGPEGA QGPRGEPGTP GSPGPAGAAG 180
NPGTDGIPGA KGSAGAPGIA GAPGFPGPRG PPGPQGATGP LGPKGQTGEP GIAGFKGEQG 240
PKGEPGPAGP QGAPGPAGEE GKRGARGEPG GAGPAGPPGE RGAPGNRGFP GQDGLAGPKG 300
APGERGPSGL AGPKGANGDP GRPGEPGLPG ARGLTGRPGD AGPQGKVGPS GAPGEDGRPG 360
PPGPQGARGQ PGVMGFPGPK GANGEPGKAG EKGLPGAPGL RGLPGKDGET GAAGPPGPAG 420
PAGERGEQGA PGPSGFQGLP GPPGPPGEGG KPGDQGVPGE AGAPGLVGPR GERGFPGERG 480
SPGSQGLQGA RGLPGTPGTD GPKGAAGPAG PPGAQGPPGL QGMPGERGAA GIAGPKGDRG 540
DVGEKGPEGA PGKDGGRGLT GPIGPPGPAG ANGEKGEVGP PGPAGTAGAR GAPGERGETG 600
PPGPAGFAGP PGADGQPGAK GEQGEAGQKG DAGAPGPQGP SGAPGPQGPT GVTGPKGARG 660
AQGPPGATGF PGAAGRVGPP GSNGNPGPPG PPGPSGKDGP KGARGDSGPP GRAGDPGLQG 720
PAGPPGEKGE PGDDGPSGPD GPPGPQGLAG QRGIVGLPGQ RGERGFPGLP GPSGEPGKQG 780
APGASGDRGP PGPVGPPGLT GPAGEPGREG SPGADGPPGR DGAAGVKGDR GETGAVGAPG 840
APGPPGSPGP AGPVGKQGDR GEAGAQGPMG PAGPAGARGM PGPQGPRGDK GETGEAGERG 900
LKGHRGFTGL QGLPGPPGPS GDQGASGPAG PSGPRGPPGP VGPSGKDGAN GIPGPIGPPG 960
PRGRSGETGP AGPPGNPGPP GPPGPPGPGI DMSAFAGLGQ REKGPDPLQY MRADEAAGNL 1020
RQHDAEVDAT LKSLNNQIES LRSPEGSRKN PARTCRDLKL CHPEWKSGDY WIDPNQGCTL 1080
DAMKVFCNME TGETCVYPNP ASVPKKNWWS SKSKDKKHIW FGETINGGFH FSYGDDNLAP 1140
NTANVQMTFL RLLSTEGSQN ITYHCKNSIA YLDEAAGNLK KALLIQGSND VEIRAEGNSR 1200
FTYTVLKDGC TKHTGKWGET VIEYRSQKTS RLPIIDIAPM DIGGPEQEFG VDIGPVCFL 1259

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

Interpro

InterPro ID InterPro Term
IPR008160 Collagen
IPR000885 Fib_collagen_C

PROSITE

PROSITE ID PROSITE Term
PS51461 NC1_FIB

Pfam

Pfam ID Pfam Term
PF01410 COLFI
PF01391 Collagen