Human Gene COL2A1 (uc001rqu.3)
  Description: Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.
RefSeq Summary (NM_001844): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:48,366,748-48,398,285 Size: 31,538 Total Exon Count: 54 Strand: -
Coding Region
   Position: hg19 chr12:48,367,190-48,398,104 Size: 30,915 Coding Exon Count: 54 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:48,366,748-48,398,285)mRNA (may differ from genome)Protein (1487 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CO2A1_HUMAN
DESCRIPTION: RecName: Full=Collagen alpha-1(II) chain; AltName: Full=Alpha-1 type II collagen; Contains: RecName: Full=Collagen alpha-1(II) chain; Contains: RecName: Full=Chondrocalcin; Flags: Precursor;
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.
SUBUNIT: Homotrimers of alpha 1(II) chains.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
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).
PTM: 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.
PTM: 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.
DISEASE: Defects in COL2A1 are the cause of spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]. This disorder is characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
DISEASE: Defects in COL2A1 are the cause of spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [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.
DISEASE: Defects in COL2A1 are the cause of achondrogenesis type 2 (ACG2) [MIM:200610]; also known as achondrogenesis- hypochondrogenesis type II. ACG2 is a disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.
DISEASE: Defects in COL2A1 are the cause of Legg-Calve-Perthes disease (LCPD) [MIM:150600]; also known as Legg-Perthes disease or Perthes disease. LCPD is 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.
DISEASE: Defects in COL2A1 are the cause of Kniest dysplasia (KD) [MIM:156550]; also known as Kniest syndrome or metatropic dwarfism type II. KD is a 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.
DISEASE: Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH) [MIM:608805]; also known as ischemic necrosis of the femoral head or osteonecrosis of the femoral head. ANFH 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.
DISEASE: Defects in COL2A1 are the cause of 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. Some forms of osteoarthritis are secondary to events such as trauma, infections, metabolic disorders, or congenital or heritable conditions that deform the epiphyses or related structures. In most patients, however, there is no readily identifiable cause of osteoarthritis. Inheritance in a Mendelian dominant manner has been demonstrated in some families with primary generalized osteoarthritis. Reports demonstrate coinheritance of primary generalized osteoarthritis with specific alleles of the gene COL2A1, the precursor of the major protein of cartilage.
DISEASE: Defects in COL2A1 are the cause of 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.
DISEASE: Defects in COL2A1 are the cause of multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]. Multiple epiphyseal dysplasia is 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.
DISEASE: Defects in COL2A1 are the cause of spondyloperipheral dysplasia (SPD) [MIM:271700]. SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.
DISEASE: Defects in COL2A1 are the cause of Stickler syndrome type 1 (STL1) [MIM:108300]; also known as vitreous type 1, or membranous vitreous type. STL1 is 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. 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.
DISEASE: Defects in COL2A1 are the cause of Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]. STL1O is an autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in STL1 such as cataract, myopia, retinal detachment. STL1 systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild in STL1O patients.
DISEASE: Defects in COL2A1 are a cause of rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]. Rhegmatogenous retinal detachment 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.
DISEASE: Defects in COL2A1 are the cause of Czech dysplasia (CZECHD) [MIM:609162]. A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.
SIMILARITY: Belongs to the fibrillar collagen family.
SIMILARITY: Contains 1 fibrillar collagen NC1 domain.
SIMILARITY: Contains 1 VWFC domain.
SEQUENCE CAUTION: Sequence=AAH07252.1; Type=Frameshift; Positions=1198;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL2A1";

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): COL2A1
CDC HuGE Published Literature: COL2A1
Positive Disease Associations: Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis , Osteoarthritis , Parkinson Disease , retinal detachment , Stickler syndrome (hereditary arthro-ophthalmopathy)
Related Studies:
  1. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis
    Reginato AJ et al. 1994, Familial spondyloepiphyseal dysplasia tarda brachydactyly and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical radiographic and pathologic findin, Arthritis and rheumatism. 1994 Jul;37(7):1078-86. [PubMed 8024616]
  2. Osteoarthritis
    Granchi D 2004, Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia., Clinical orthopaedics and related research. 2002 Oct;(403):108-17. [PubMed 12360016]
    These results indicate that genetic markers could contribute to the understanding of the natural history of this disease.
  3. osteoarthritis
    Valdes, A. M. et al. 2006, Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee, Arthritis Rheum 2006 56(1) 137-146. [PubMed 17195216]
    Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: COL2A1
Diseases sorted by gene-association score: kniest dysplasia* (1721), sed congenita* (1689), czech dysplasia* (1688), achondrogenesis, type ii or hypochondrogenesis* (1679), osteoarthritis with mild chondrodysplasia* (1679), smed strudwick type* (1677), platyspondylic skeletal dysplasia, torrance type* (1669), epiphyseal dysplasia, multiple, with myopia and deafness* (1650), legg-calve-perthes disease* (1596), spondyloepiphyseal dysplasia, stanescu type* (1590), stickler syndrome, type i* (1580), stickler sydrome, type i, nonsyndromic ocular* (1550), spondyloperipheral dysplasia* (1379), avascular necrosis of the femoral head* (1219), familial avascular necrosis of the femoral head* (850), col2a1-associated stickler syndrome* (500), col2a1-related stickler syndrome* (500), stickler syndrome* (473), myopia* (453), hypochondrogenesis* (427), dysspondyloenchondromatosis* (368), spondylometaphyseal dysplasia, algerian type* (350), myopia 6* (200), type ii collagenopathies* (118), spondyloepiphyseal dysplasia with congenital joint dislocations* (92), osteoarthritis (77), achondrogenesis (59), retinal detachment (54), spondyloepimetaphyseal dysplasia (42), skeletal dysplasias (30), vitreous syneresis (26), spondylometaphyseal dysplasia, corner fracture type* (25), skeletal dysplasia (24), diastrophic dysplasia (21), pectus carinatum (19), moved to 184840* (18), multiple epiphyseal dysplasia (17), otospondylomegaepiphyseal dysplasia, autosomal dominant (14), otospondylomegaepiphyseal dysplasia, autosomal recessive (14), achondrogenesis, type ia (14), wagner syndrome (13), snowflake vitreoretinal degeneration (13), retinoschisis (13), pilomyxoid astrocytoma (13), marshall syndrome (12), scoliosis (12), campomelic dysplasia (12), cartilage disease (12), brachydactyly (11), brachyolmia (11), congenital toxoplasmosis (11), spondyloepiphyseal dysplasia tarda (11), pyle disease (10), collagen disease (9), osteochondrodysplasia (9), sensorineural hearing loss (8), vitreoretinal degeneration (8), macroglossia (8), otospondylomegaepiphyseal dysplasia (7), arthritis (7), eye degenerative disease (7), osteonecrosis (7), osteoarthritis-5 (7), retinal perforation (7), scheuermann disease (7), ischemic bone disease (7), cleft palate, isolated (7), bone development disease (6), osteochondrosis (6), peroneal nerve paralysis (6), peripheral retinal degeneration (5), hypotrichosis 8 (5), vitreoretinal dystrophy (5), synovial chondromatosis (5), baraitser-winter syndrome (5), bone structure disease (5), metaphyseal chondrodysplasia, murk jansen type (5), baller-gerold syndrome (4), bone deterioration disease (4), eye disease (3), strabismus (1), bone inflammation disease (1), pilocytic astrocytoma (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.80 RPKM in Pituitary
Total median expression: 17.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.30181-0.565 Picture PostScript Text
3' UTR -120.96442-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008160 - Collagen
IPR000885 - Fib_collagen_C
IPR001007 - VWF_C

Pfam Domains:
PF00093 - von Willebrand factor type C domain
PF01391 - Collagen triple helix repeat (20 copies)
PF01410 - Fibrillar collagen C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1U5M - NMR 2FSE - X-ray MuPIT 2SEB - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02458
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0042289 MHC class II protein binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding

Biological Process:
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0001894 tissue homeostasis
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0003007 heart morphogenesis
GO:0006029 proteoglycan metabolic process
GO:0007417 central nervous system development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010468 regulation of gene expression
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030903 notochord development
GO:0035108 limb morphogenesis
GO:0042472 inner ear morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048839 inner ear development
GO:0050776 regulation of immune response
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060174 limb bud formation
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060348 bone development
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0071599 otic vesicle development
GO:0071773 cellular response to BMP stimulus
GO:0097065 anterior head development
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005585 collagen type II trimer
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  BC018916 - Homo sapiens cDNA clone IMAGE:4120767, **** WARNING: chimeric clone ****.
X06268 - Human mRNA for pro-alpha 1 (II) collagen 3'end C-term. triple helical and C-terminal non-helical domain.
BC007252 - Homo sapiens collagen, type II, alpha 1, mRNA (cDNA clone IMAGE:3010564), complete cds.
BC116449 - Homo sapiens collagen, type II, alpha 1, mRNA (cDNA clone MGC:131516 IMAGE:7486698), complete cds.
JD073644 - Sequence 54668 from Patent EP1572962.
JD257244 - Sequence 238268 from Patent EP1572962.
JD233607 - Sequence 214631 from Patent EP1572962.
AL834148 - Homo sapiens mRNA; cDNA DKFZp434L081 (from clone DKFZp434L081).
JD253597 - Sequence 234621 from Patent EP1572962.
JD327836 - Sequence 308860 from Patent EP1572962.
JD264782 - Sequence 245806 from Patent EP1572962.
JD367070 - Sequence 348094 from Patent EP1572962.
X16468 - Human mRNA for alpha-1 type II collagen.
BT007205 - Homo sapiens collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) mRNA, complete cds.
KJ901345 - Synthetic construct Homo sapiens clone ccsbBroadEn_10739 COL2A1 gene, encodes complete protein.
KR710746 - Synthetic construct Homo sapiens clone CCSBHm_00016674 COL2A1 (COL2A1) mRNA, encodes complete protein.
KR710747 - Synthetic construct Homo sapiens clone CCSBHm_00016675 COL2A1 (COL2A1) mRNA, encodes complete protein.
KR710748 - Synthetic construct Homo sapiens clone CCSBHm_00016677 COL2A1 (COL2A1) mRNA, encodes complete protein.
KR710749 - Synthetic construct Homo sapiens clone CCSBHm_00016682 COL2A1 (COL2A1) mRNA, encodes complete protein.
M63281 - Human type II collagen (COL2A1) mRNA, partial cds.
X16711 - H.sapiens COL2A1 mRNA for alpha1 (II) collagen.
X13783 - Human mRNA for alpha-1 type 2 collagen.
JD210380 - Sequence 191404 from Patent EP1572962.
JD463421 - Sequence 444445 from Patent EP1572962.
JD150475 - Sequence 131499 from Patent EP1572962.
JD219739 - Sequence 200763 from Patent EP1572962.
MP012941 - Sequence 1 from Patent EP3397294.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P02458 (Reactome details) participates in the following event(s):

R-HSA-8944263 Association of procollagen type II
R-HSA-8944266 Association of procollagen type XI
R-HSA-2002460 P4HB binds Collagen chains
R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides
R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen
R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides
R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides
R-HSA-2022073 Procollagen triple helix formation
R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines
R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2.
R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3
R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines
R-HSA-2002440 Removal of fibrillar collagen C-propeptides
R-HSA-2002428 Removal of fibrillar collagen N-propeptides
R-HSA-8948216 Collagen chain trimerization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-1474290 Collagen formation
R-HSA-1474244 Extracellular matrix organization
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures

-  Other Names for This Gene
  Alternate Gene Symbols: A6NGA0, CO2A1_HUMAN, NM_001844, NP_001835, P02458, Q12985, Q14009, Q14044, Q14045, Q14046, Q14047, Q14056, Q14058, Q16672, Q1JQ82, Q2V4X7, Q6LBY1, Q6LBY2, Q6LBY3, Q96IT5, Q99227, Q9UE38, Q9UE39, Q9UE40, Q9UE41, Q9UE42, Q9UE43
UCSC ID: uc001rqu.3
RefSeq Accession: NM_001844
Protein: P02458 (aka CO2A1_HUMAN or CA12_HUMAN)
CCDS: CCDS8759.1, CCDS41778.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COL2A1:
collagen-2 (Type II Collagen Disorders Overview)
smdcf (Spondylometaphyseal Dysplasia, Corner Fracture Type)
stickler (Stickler Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001844.4
exon count: 54CDS single in 3' UTR: no RNA size: 5087
ORF size: 4464CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9120.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.