COL11A2
entrez
1302
canonical
uniprot
P13942
canonical
ensembl
ENSG00000204248
resolver
ensembl
ENSG00000206290
resolver
ensembl
ENSG00000223699
resolver
ensembl
ENSG00000227801
resolver
ensembl
ENSG00000230930
resolver
ensembl
ENSG00000235708
resolver
ensp
ENSP00000339915
resolver
ensp
ENSP00000363840
resolver
ensp
ENSP00000372706
resolver
ensp
ENSP00000378620
resolver
ensp
ENSP00000388309
resolver
ensp
ENSP00000408627
resolver
ensp
ENSP00000446870
resolver
ensp
ENSP00000447062
resolver
ensp
ENSP00000448701
resolver
ensp
ENSP00000448715
resolver
ensp
ENSP00000448931
resolver
ensp
ENSP00000450046
resolver
ensp
ENSP00000450084
resolver
ensp
ENSP00000600180
resolver
ensp
ENSP00000600181
resolver
enst
ENST00000341947
resolver
enst
ENST00000374708
resolver
enst
ENST00000383219
resolver
enst
ENST00000447349
resolver
enst
ENST00000448717
resolver
enst
ENST00000549491
resolver
enst
ENST00000549836
resolver
enst
ENST00000549885
resolver
enst
ENST00000550998
resolver
enst
ENST00000551413
resolver
enst
ENST00000551758
resolver
enst
ENST00000552473
resolver
enst
ENST00000930121
resolver
genesymbol
COL11A2
resolver
hgnc
HGNC:2187
resolver
uniprot
A0A0C4DFS1
resolver
uniprot
A0A0G2JL35
resolver
uniprot
A0A0G2JL78
resolver
uniprot
A0A140TA43
resolver
uniprot
A6NLX2
resolver
uniprot
E7ER90
resolver
uniprot
Q07751
resolver
uniprot
Q13271
resolver
uniprot
Q13272
resolver
uniprot
Q13273
resolver
uniprot
Q4VXY6
resolver
uniprot
Q5JP94
resolver
uniprot
Q5SUI8
resolver
uniprot
Q7Z6C3
resolver
uniprot
Q99866
resolver
uniprot
Q9UIP9
resolver
uniprot_entry
A0A0C4DFS1_HUMAN
resolver
uniprot_entry
A0A0G2JL35_HUMAN
resolver
uniprot_entry
A0A0G2JL78_HUMAN
resolver
uniprot_entry
A0A140TA43_HUMAN
resolver
uniprot_entry
COBA2_HUMAN
resolver
uniprot_entry
Q4VXY6_HUMAN
resolver
uniprot_sec
A6NLX2
resolver
uniprot_sec
E7ER90
resolver
uniprot_sec
Q07751
resolver
uniprot_sec
Q13271
resolver
uniprot_sec
Q13272
resolver
uniprot_sec
Q13273
resolver
uniprot_sec
Q5JP94
resolver
uniprot_sec
Q5SUI8
resolver
uniprot_sec
Q7Z6C3
resolver
uniprot_sec
Q99866
resolver
uniprot_sec
Q9UIP9
resolver
amino_acid_sequence
MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG
uniprot
proteins
disease_involvement
DISEASE: Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) [MIM:184840]: An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. {ECO:0000269|PubMed:7859284, ECO:0000269|PubMed:9506662, ECO:0000269|PubMed:9805126}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) [MIM:215150]: An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis. {ECO:0000269|PubMed:10677296, ECO:0000269|PubMed:7859284}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:10581026}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706]: A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:16033917, ECO:0000269|PubMed:25633957}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fibrochondrogenesis 2 (FBCG2) [MIM:614524]: A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. {ECO:0000269|PubMed:22246659}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
uniprot
proteins
mass_dalton
171791
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.; PTM: A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.
uniprot
proteins
protein_family
Fibrillar collagen family
uniprot
proteins
pubmed
10581026
uniprot
proteins
pubmed
10677296
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16033917
uniprot
proteins
pubmed
22246659
uniprot
proteins
pubmed
22938506
uniprot
proteins
pubmed
25633957
uniprot
proteins
pubmed
2760050
uniprot
proteins
pubmed
7559422
uniprot
proteins
pubmed
7721876
uniprot
proteins
pubmed
7859284
uniprot
proteins
pubmed
8325374
uniprot
proteins
pubmed
8838804
uniprot
proteins
pubmed
9101290
uniprot
proteins
pubmed
9506662
uniprot
proteins
pubmed
9585596
uniprot
proteins
pubmed
9805126
uniprot
proteins
sequence_length
1736
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.
uniprot
proteins