COL9A3
entrez
1299
canonical
uniprot
Q14050
canonical
ensembl
ENSG00000092758
resolver
ensp
ENSP00000496793
resolver
ensp
ENSP00000736412
resolver
enst
ENST00000649368
resolver
genesymbol
COL9A3
resolver
hgnc
HGNC:2219
resolver
uniprot
Q13681
resolver
uniprot
Q9H4G9
resolver
uniprot
Q9UPE2
resolver
uniprot_entry
CO9A3_HUMAN
resolver
uniprot_sec
Q13681
resolver
uniprot_sec
Q9H4G9
resolver
uniprot_sec
Q9UPE2
resolver
amino_acid_sequence
MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS
uniprot
proteins
disease_involvement
DISEASE: Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269|PubMed:10090888, ECO:0000269|PubMed:25381065}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269|PubMed:11308397, ECO:0000269|PubMed:25381065}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397). {ECO:0000269|PubMed:11308397}.; DISEASE: Stickler syndrome 6 (STL6) [MIM:620022]: A form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondyly and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. STL6 is an autosomal recessive form characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. {ECO:0000269|PubMed:24273071, ECO:0000269|PubMed:30450842, ECO:0000269|PubMed:31090205, ECO:0000269|PubMed:33570243}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of hyaline cartilage and vitreous of the eye.
uniprot
proteins
mass_dalton
63616
uniprot
proteins
post_translational_modification
PTM: Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.; PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
uniprot
proteins
protein_family
Fibril-associated collagens with interrupted helices (FACIT) family
uniprot
proteins
pubmed
10090888
uniprot
proteins
pubmed
10428822
uniprot
proteins
pubmed
11308397
uniprot
proteins
pubmed
11565064
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24273071
uniprot
proteins
pubmed
25381065
uniprot
proteins
pubmed
30450842
uniprot
proteins
pubmed
31090205
uniprot
proteins
pubmed
33570243
uniprot
proteins
pubmed
8586434
uniprot
proteins
pubmed
9164858
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins