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Aliases for COL2A1 Gene

Aliases for COL2A1 Gene

  • Collagen, Type II, Alpha 1 2 3
  • Arthroophthalmopathy, Progressive (Stickler Syndrome) 2 3
  • Alpha-1 Type II Collagen 3 4
  • Collagen, Type II, Alpha 1 (Primary Osteoarthritis, Spondyloepiphyseal Dysplasia, Congenital) 2
  • Collagen II, Alpha-1 Polypeptide 3
  • Collagen Alpha-1(II) Chain 3
  • Cartilage Collagen 3
  • Chondrocalcin 3
  • COL11A3 3
  • ANFH 3
  • STL1 3
  • SEDC 3
  • AOM 3

External Ids for COL2A1 Gene

Previous HGNC Symbols for COL2A1 Gene

  • SEDC
  • AOM

Previous GeneCards Identifiers for COL2A1 Gene

  • GC12M048379
  • GC12M048266
  • GC12M048083
  • GC12M046653
  • GC12M045398
  • GC12M048366

Summaries for COL2A1 Gene

Entrez Gene Summary for COL2A1 Gene

  • This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL2A1 Gene

COL2A1 (Collagen, Type II, Alpha 1) is a Protein Coding gene. Diseases associated with COL2A1 include stickler syndrome, type i and kniest dysplasia. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include identical protein binding and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL2A1 Gene

  • Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL2A1 Gene

Genomics for COL2A1 Gene

Regulatory Elements for COL2A1 Gene

Genomic Location for COL2A1 Gene

Start:
47,972,965 bp from pter
End:
48,004,554 bp from pter
Size:
31,590 bases
Orientation:
Minus strand

Genomic View for COL2A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL2A1 Gene

Proteins for COL2A1 Gene

  • Protein details for COL2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02458-CO2A1_HUMAN
    Recommended name:
    Collagen alpha-1(II) chain
    Protein Accession:
    P02458
    Secondary Accessions:
    • A6NGA0
    • Q12985
    • Q14009
    • Q14044
    • Q14045
    • Q14046
    • Q14047
    • Q14056
    • Q14058
    • Q16672
    • Q1JQ82
    • Q2V4X7
    • Q6LBY1
    • Q6LBY2
    • Q6LBY3
    • Q96IT5
    • Q99227
    • Q9UE38
    • Q9UE39
    • Q9UE40
    • Q9UE41
    • Q9UE42
    • Q9UE43

    Protein attributes for COL2A1 Gene

    Size:
    1487 amino acids
    Molecular mass:
    141785 Da
    Quaternary structure:
    • Homotrimers of alpha 1(II) chains
    SequenceCaution:
    • Sequence=AAH07252.1; Type=Frameshift; Positions=1198; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL2A1 Gene

    Alternative splice isoforms for COL2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL2A1 Gene

Proteomics data for COL2A1 Gene at MOPED

Post-translational modifications for COL2A1 Gene

  • Probably 3-hydroxylated on prolines by LEPREL1 (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.
  • The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2
  • Glycosylation at Lys121, Lys218, Lys230, Lys239, Lys305, Lys539, Lys551, Lys1061, and Asn1319
  • Modification sites at PhosphoSitePlus

Other Protein References for COL2A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL2A1 Gene

Domains for COL2A1 Gene

Gene Families for COL2A1 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL2A1 Gene

Graphical View of Domain Structure for InterPro Entry

P02458

UniProtKB/Swiss-Prot:

CO2A1_HUMAN :
  • P02458
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 VWFC domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL2A1: view

Function for COL2A1 Gene

Molecular function for COL2A1 Gene

GENATLAS Biochemistry: collagen type II,alpha 1,fibril forming,chondrocalcin included,expressed in hyaline cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear
UniProtKB/Swiss-Prot Function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces

Gene Ontology (GO) - Molecular Function for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent --
GO:0005515 protein binding --
GO:0030020 extracellular matrix structural constituent conferring tensile strength IC 8660302
GO:0042802 identical protein binding NAS 2587267
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL2A1: view
genes like me logo Genes that share phenotypes with COL2A1: view

Animal Models for COL2A1 Gene

MGI Knock Outs for COL2A1:

miRNA for COL2A1 Gene

miRTarBase miRNAs that target COL2A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL2A1 Gene

Localization for COL2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL2A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL2A1 Gene COMPARTMENTS Subcellular localization image for COL2A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix --
GO:0005581 collagen trimer --
GO:0005585 collagen type II trimer IDA 8660302
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL2A1: view

Pathways for COL2A1 Gene

genes like me logo Genes that share pathways with COL2A1: view

Gene Ontology (GO) - Biological Process for COL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 1429602
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification --
GO:0001894 tissue homeostasis IEA --
GO:0001958 endochondral ossification IEA --
genes like me logo Genes that share ontologies with COL2A1: view

Compounds for COL2A1 Gene

(1) Drugbank Compounds for COL2A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Collagenase
9001-12-1 target

(33) Novoseek inferred chemical compound relationships for COL2A1 Gene

Compound -log(P) Hits PubMed IDs
procollagen 72.1 7
calcium pyrophosphate 56.3 1
alginate 55.3 2
hydroxylysine 50 1
glycosaminoglycan 49.8 4
genes like me logo Genes that share compounds with COL2A1: view

Transcripts for COL2A1 Gene

Unigene Clusters for COL2A1 Gene

Collagen, type II, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL2A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
SP1:
SP2: -
SP3:
SP4:
SP5: -

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^
SP1: -
SP2:
SP3:
SP4:
SP5:

ExUns: 50 ^ 51
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for COL2A1 Gene

GeneLoc Exon Structure for
COL2A1
ECgene alternative splicing isoforms for
COL2A1

Expression for COL2A1 Gene

mRNA expression in normal human tissues for COL2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL2A1 Gene

This gene is overexpressed in Stomach (20.7), Pituitary (15.8), and Testis (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL2A1 Gene

SOURCE GeneReport for Unigene cluster for COL2A1 Gene Hs.408182

mRNA Expression by UniProt/SwissProt for COL2A1 Gene

P02458-CO2A1_HUMAN
Tissue specificity: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
genes like me logo Genes that share expressions with COL2A1: view

Orthologs for COL2A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL2A1 35
  • 99.62 (n)
  • 99.93 (a)
COL2A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL2A1 35
  • 92.31 (n)
  • 97.78 (a)
COL2A1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL2A1 35
  • 92.58 (n)
  • 98.32 (a)
COL2A1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col2a1 35
  • 89.08 (n)
  • 95.09 (a)
Col2a1 16
Col2a1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL2A1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL2A1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col2a1 35
  • 89.55 (n)
  • 96.4 (a)
chicken
(Gallus gallus)
Aves COL2A1 35
  • 79.82 (n)
  • 92.58 (a)
COL2A1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL2A1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col2a1 35
  • 80.06 (n)
  • 88.47 (a)
zebrafish
(Danio rerio)
Actinopterygii col2a1a 35
  • 75.78 (n)
  • 83.02 (a)
col2a1a 36
  • 82 (a)
OneToMany
col2a1b 36
  • 83 (a)
OneToMany
Dr.27172 35
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 36
  • 57 (a)
OneToMany
Species with no ortholog for COL2A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL2A1 Gene

ENSEMBL:
Gene Tree for COL2A1 (if available)
TreeFam:
Gene Tree for COL2A1 (if available)

Paralogs for COL2A1 Gene

genes like me logo Genes that share paralogs with COL2A1: view

Variants for COL2A1 Gene

Sequence variations from dbSNP and Humsavar for COL2A1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs740022 -- 47,988,694(-) ACAGG(A/C)CTCGC intron-variant
rs740023 -- 47,988,674(-) AGGAT(C/T)CCAGT intron-variant
rs740024 -- 47,988,499(-) CCTTT(G/T)GAAAA intron-variant
rs915917 -- 47,988,191(-) CACCC(A/G)TCAGC intron-variant
rs915918 -- 47,987,848(-) TGAAC(A/C/G)GACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL2A1 Gene

Variant ID Type Subtype PubMed ID
nsv832401 CNV Loss 17160897
nsv899061 CNV Loss 21882294
nsv525456 CNV Gain 19592680
nsv519659 CNV Loss 19592680

Relevant External Links for COL2A1 Gene

HapMap Linkage Disequilibrium report
COL2A1
Human Gene Mutation Database (HGMD)
COL2A1
Locus Specific Mutation Databases (LSDB)
COL2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL2A1 Gene

Disorders for COL2A1 Gene

UniProtKB/Swiss-Prot

CO2A1_HUMAN
  • Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. {ECO:0000269 PubMed:10678662, ECO:0000269 PubMed:11746045, ECO:0000269 PubMed:2339128, ECO:0000269 PubMed:2543071, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8019561, ECO:0000269 PubMed:8325895, ECO:0000269 PubMed:8423604}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]: A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. {ECO:0000269 PubMed:16088915, ECO:0000269 PubMed:7550321, ECO:0000269 Ref.38}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Achondrogenesis 2 (ACG2) [MIM:200610]: A disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:10797431, ECO:0000269 PubMed:17994563, ECO:0000269 PubMed:2572591, ECO:0000269 PubMed:7757081, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:7829510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Legg-Calve-Perthes disease (LCPD) [MIM:150600]: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. {ECO:0000269 PubMed:17394019}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kniest dysplasia (KD) [MIM:156550]: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. {ECO:0000269 PubMed:7874117, ECO:0000269 PubMed:8863156}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary avascular necrosis of femoral head (ANFH) [MIM:608805]: Causes disability that often requires surgical intervention. Most cases are sporadic, but families in which there is an autosomal dominant inheritance of the disease have been identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH. Approximately 15,000 new cases of this common and disabling disorder are reported annually. The age at the onset is earlier than that for osteoarthritis. The diagnosis is typically made when patients are between the ages of 30 and 60 years. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in the United States involve patients with ANFH. As a result, this disease creates a substantial socioeconomic cost as well as a burden for patients and their families. {ECO:0000269 PubMed:15930420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864]: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. {ECO:0000269 PubMed:1975693, ECO:0000269 PubMed:1985108, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8507190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:14729840, ECO:0000269 PubMed:15643621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. {ECO:0000269 PubMed:9800905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloperipheral dysplasia (SPD) [MIM:271700]: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. {ECO:0000269 PubMed:15316962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stickler syndrome 1 (STL1) [MIM:108300]: An autosomal dominant 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 platyspondylisis 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. Syndrome expressivity is variable. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:20513134, ECO:0000269 PubMed:7977371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. {ECO:0000269 PubMed:16752401, ECO:0000269 PubMed:17721977, ECO:0000269 PubMed:8317498}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:15671297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Czech dysplasia (CZECHD) [MIM:609162]: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. {ECO:0000269 PubMed:18553548, ECO:0000269 PubMed:19764028, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8244341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(52) Novoseek inferred disease relationships for COL2A1 Gene

Disease -log(P) Hits PubMed IDs
kniest dysplasia 94.9 18
spondyloepiphyseal dysplasia 94.8 32
achondrogenesis, type ii 89.9 8
stickler syndrome, type i 88.6 4
sed congenita 82.2 2

Relevant External Links for COL2A1

GeneTests
COL2A1
GeneReviews
COL2A1
Genetic Association Database (GAD)
COL2A1
Human Genome Epidemiology (HuGE) Navigator
COL2A1
genes like me logo Genes that share disorders with COL2A1: view

Publications for COL2A1 Gene

  1. An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. (PMID: 1429602) Bogaert R. … Eyre D.R. (J. Biol. Chem. 1992) 3 4 23
  2. Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse. (PMID: 1637314) Vikkula M. … Peltonen L. (Biochem. J. 1992) 3 4 23
  3. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). (PMID: 1677770) Ahmad N.N. … Prockop D.J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 23
  4. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. (PMID: 2339128) Tiller G.E. … Cohn D.H. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  5. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (PMID: 7550321) Tiller G.E. … Eyre D.R. (Nat. Genet. 1995) 3 4 23

Products for COL2A1 Gene

Sources for COL2A1 Gene

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