Col2a1 (collagen, type II, alpha 1) - Rat Genome Database

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Gene: Col2a1 (collagen, type II, alpha 1) Mus musculus
Analyze
Symbol: Col2a1
Name: collagen, type II, alpha 1
RGD ID: 10373
MGI Page MGI
Description: Enables identical protein binding activity. Involved in several processes, including limb bud formation; notochord development; and otic vesicle development. Acts upstream of or within several processes, including collagen fibril organization; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; and skeletal system development. Located in basement membrane; cytoplasm; and extracellular space. Part of collagen type II trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart and pericardium; sensory organ; and skeletal system. Used to study achondrogenesis type II; hypochondrogenesis; spondyloepimetaphyseal dysplasia; and spondyloepiphyseal dysplasia congenita. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: alpha-1 type II collagen; chondrocalcin; Co; Col2; Col2a; Col2a-1; collagen alpha-1(II) chain; Del; Del1; disproportionate micromelia; Dmm; L; Lpk; M100413; M100856; MGC90638; procollagen, type II, alpha 1; Rgsc4; Rgsc413; Rgsc8; Rgsc856
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391597,873,483 - 97,902,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1597,873,483 - 97,902,576 (-)EnsemblGRCm39 Ensembl
GRCm381597,975,602 - 98,004,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1597,975,602 - 98,004,695 (-)EnsemblGRCm38mm10GRCm38
MGSCv371597,806,033 - 97,835,155 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,803,005 - 97,832,679 (-)NCBIMGSCv36mm8
Celera15100,100,464 - 100,129,552 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1553.97NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
achondrogenesis type II  (IAGP,ISO)
Animal Disease Models  (ISO)
arthritis  (ISO)
asphyxiating thoracic dystrophy  (ISO)
Bethlem myopathy  (ISO)
Bethlem Myopathy 1  (ISO)
bone development disease  (ISO)
bone resorption disease  (ISO)
Bronchial Fistula  (ISO)
cartilage disease  (ISO)
cataract  (ISO)
chondrosarcoma  (ISO)
chorioretinitis  (ISO)
cleft palate  (ISO)
Collagenopathy, Type 2 Alpha 1  (ISO)
congenital heart disease  (ISO)
connective tissue disease  (ISO)
Craniofacial Abnormalities  (ISO)
Czech Dysplasia, Metatarsal Type  (ISO)
degenerative disc disease  (ISO)
Dwarfism  (IAGP,ISO)
Edema  (ISO)
Erythema  (ISO)
Experimental Arthritis  (ISO)
eye disease  (ISO)
Femur Head Necrosis  (ISO)
Fetal Growth Retardation  (ISO)
fundus dystrophy  (ISO)
genetic disease  (ISO)
Hearing Loss  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
High Myopia  (ISO)
Hyaloideoretinal Degeneration of Wagner  (ISO)
Hyperplasia  (ISO)
hypochondrogenesis  (IAGP,ISO)
hypothyroidism  (ISO)
Inflammation  (ISO)
intellectual disability  (ISO)
Kniest dysplasia  (ISO)
Legg-Calve-Perthes disease  (ISO)
Maffucci syndrome  (ISO)
Marfan syndrome  (ISO)
MASS Syndrome  (ISO)
melanoma  (ISO)
multiple epiphyseal dysplasia with myopia and deafness  (ISO)
myopia  (ISO)
osteoarthritis  (ISO)
Osteoarthritis with Mild Chondrodysplasia  (ISO)
osteochondrodysplasia  (IMP,ISO)
otospondylomegaepiphyseal dysplasia, autosomal dominant  (ISO)
otospondylomegaepiphyseal dysplasia, autosomal recessive  (ISO)
Prognathism  (ISO)
retinal detachment  (ISO)
Rhegmatogenous Retinal Detachment, Autosomal Dominant  (ISO)
rheumatoid arthritis  (ISO)
sensorineural hearing loss  (ISO)
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS  (ISO)
spondyloarthropathy  (ISO)
spondyloepimetaphyseal dysplasia  (IAGP)
spondyloepimetaphyseal dysplasia, Strudwick type  (ISO)
spondyloepiphyseal dysplasia congenita  (IAGP,ISO)
spondyloepiphyseal dysplasia Stanescu type  (ISO)
spondylometaphyseal dysplasia  (ISO)
spondylometaphyseal dysplasia corner fracture type  (ISO)
spondyloperipheral dysplasia  (ISO)
Stargardt disease  (ISO)
Stickler syndrome  (ISO)
Stickler syndrome 1  (IMP,ISO)
Stickler Syndrome, Type I, Nonsyndromic Ocular  (ISO)
synovitis  (ISO)
Torrance type platyspondylic dysplasia  (IMP,ISO)
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  (ISO)
Weight Loss  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (EXP)
(R)-carnitine  (ISO)
(R)-pantothenic acid  (ISO)
(S)-magnoflorine  (ISO)
(S)-nicotine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-butoxyethanol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-(indol-3-yl)lactic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-pyridoxic acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetaldehyde  (EXP,ISO)
acetic acid  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
allantoin  (ISO)
amiloride  (ISO)
amino acid  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (ISO)
arsenite(3-)  (ISO)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
Benzo[k]fluoranthene  (ISO)
benzoic acid  (ISO)
berberine  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromochloroacetic acid  (EXP)
Butylparaben  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
carbamazepine  (EXP)
chlorogenic acid  (ISO)
choline  (EXP)
chromium(6+)  (EXP)
citric acid  (ISO)
corticosterone  (ISO)
creatine  (ISO)
creatinine  (ISO)
crocin-1  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diethyl malate  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
entinostat  (EXP,ISO)
epoxiconazole  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (ISO)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
flavonoids  (ISO)
flusilazole  (EXP)
folic acid  (EXP)
formaldehyde  (ISO)
furan  (ISO)
gallic acid  (ISO)
Geniposide  (ISO)
genistein  (ISO)
graphite  (ISO)
hyaluronic acid  (EXP)
hydroquinone  (ISO)
immunological adjuvant  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-carboxylic acid  (ISO)
indometacin  (ISO)
irigenin  (ISO)
isoprenaline  (EXP)
kaempferol  (EXP)
keto-phenylpyruvic acid  (ISO)
kynurenic acid  (ISO)
L-ascorbic acid  (ISO)
L-cysteine  (ISO)
L-methionine  (EXP,ISO)
lead diacetate  (EXP,ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
lupeol  (ISO)
LY-2157299  (ISO)
mercaptopurine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylparaben  (EXP)
mevalonic acid  (ISO)
mifepristone  (ISO)
Mofezolac (TN)  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
montelukast  (EXP)
morin  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-benzoylglycine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nicotine  (ISO)
O-acetyl-L-carnitine  (ISO)
O-palmitoylcarnitine  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
p-aminohippuric acid  (ISO)
paracetamol  (EXP)
paraquat  (EXP)
Phellodendrine  (ISO)
phenylacetylglycine  (ISO)
phenylmercury acetate  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP)
propranolol  (EXP)
prostaglandin E2  (EXP,ISO)
prostaglandin F2alpha  (EXP)
Ptaquiloside  (EXP)
purine-6-thiol  (ISO)
quercetin  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
SB 431542  (ISO)
selenium atom  (EXP)
simvastatin  (ISO)
sirolimus  (EXP)
sirtinol  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (ISO)
sodium fluoride  (EXP)
spermidine  (ISO)
succinic acid  (ISO)
sulfamethoxazole  (ISO)
T-2 toxin  (EXP)
taurine  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
tributylstannane  (EXP)
trichostatin A  (ISO)
triclosan  (ISO)
triptonide  (EXP)
urethane  (ISO)
uridine  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (ISO)
xanthurenic acid  (ISO)
yohimbine  (ISO)
zileuton  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anterior head development  (IMP)
bone development  (IMP)
cartilage condensation  (IMP)
cartilage development  (IMP,ISO)
cartilage development involved in endochondral bone morphogenesis  (IMP,ISO)
cellular response to BMP stimulus  (IDA)
cellular response to insulin-like growth factor stimulus  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to nicotine  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to peptide hormone stimulus  (ISO)
cellular response to retinoic acid  (ISO)
cellular response to tumor necrosis factor  (ISO)
cellular response to vitamin E  (ISO)
central nervous system development  (IEP)
chondrocyte differentiation  (IEP,IMP,ISO)
collagen fibril organization  (IBA,IMP,ISO)
embryonic skeletal joint morphogenesis  (ISO)
endochondral ossification  (IMP)
extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
growth plate cartilage development  (ISO)
heart morphogenesis  (IMP)
inner ear development  (IMP)
inner ear morphogenesis  (IMP)
limb bud formation  (IEP)
limb morphogenesis  (IMP)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
notochord development  (IBA,IEP)
ossification  (IEP)
otic vesicle development  (IEP)
proteoglycan metabolic process  (IMP)
regulation of gene expression  (IMP)
response to fibroblast growth factor  (ISO)
response to mechanical stimulus  (ISO)
response to X-ray  (ISO)
roof of mouth development  (IMP)
sensory perception of sound  (ISO)
skeletal system development  (IBA,ISO)
skeletal system morphogenesis  (IMP)
tissue homeostasis  (IMP)
visual perception  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal anterior eye segment morphology  (IAGP)
abnormal articular cartilage morphology  (IAGP)
abnormal autopod morphology  (IAGP)
abnormal axial skeleton morphology  (IAGP)
abnormal basicranium morphology  (IAGP)
abnormal bone marrow cavity morphology  (IAGP)
abnormal bone ossification  (IAGP)
abnormal bone structure  (IAGP)
abnormal brain development  (IAGP)
abnormal cartilage development  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal chest morphology  (IAGP)
abnormal chondrocyte morphology  (IAGP)
abnormal chondrocyte physiology  (IAGP)
abnormal ciliary process morphology  (IAGP)
abnormal cranial ganglia morphology  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal diencephalon morphology  (IAGP)
abnormal digestive system physiology  (IAGP)
abnormal elbow joint morphology  (IAGP)
abnormal endochondral bone ossification  (IAGP)
abnormal epiphyseal plate morphology  (IAGP)
abnormal eye development  (IAGP)
abnormal forebrain development  (IAGP)
abnormal forebrain morphology  (IAGP)
abnormal forelimb morphology  (IEA)
abnormal head morphology  (IAGP)
abnormal head shape  (IAGP)
abnormal heart valve morphology  (IAGP)
abnormal hindlimb morphology  (IEA)
abnormal hyoid bone morphology  (IAGP)
abnormal joint mobility  (IAGP)
abnormal lens morphology  (IAGP)
abnormal limb bone morphology  (IAGP)
abnormal limb long bone morphology  (IAGP)
abnormal limb morphology  (IAGP)
abnormal long bone epiphyseal ossification zone morphology  (IAGP)
abnormal long bone epiphyseal plate morphology  (IAGP)
abnormal long bone epiphyseal plate proliferative zone  (IAGP)
abnormal long bone epiphysis morphology  (IAGP)
abnormal long bone hypertrophic chondrocyte zone  (IAGP)
abnormal long bone metaphysis morphology  (IAGP)
abnormal long bone morphology  (IAGP)
abnormal lung volume  (IAGP)
abnormal mesendoderm development  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neurocranium morphology  (IAGP)
abnormal optic vesicle formation  (IAGP)
abnormal pelvic girdle bone morphology  (IAGP)
abnormal phalanx morphology  (IAGP)
abnormal posterior eye segment morphology  (IAGP)
abnormal postnatal growth/weight/body size  (IAGP)
abnormal pulmonary alveolus morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal scapula morphology  (IAGP)
abnormal skeleton development  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skeleton physiology  (IAGP)
abnormal snout morphology  (IAGP)
abnormal tail morphology  (IAGP)
abnormal thoracic cage morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal ulna morphology  (IAGP)
abnormal vertebrae development  (IAGP)
abnormal vertebrae morphology  (IAGP)
abnormal vertebral arch morphology  (IAGP)
abnormal vertebral body morphology  (IAGP)
absent intervertebral disk  (IAGP)
absent nasal cavity  (IAGP)
absent nasal septum  (IAGP)
absent palatal shelf  (IAGP)
brachydactyly  (IAGP)
chondrodystrophy  (IAGP)
cleft palate  (IAGP)
cleft secondary palate  (IAGP)
cyanosis  (IAGP)
cyclopia  (IAGP)
decreased body length  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone mineral density  (IAGP)
decreased bone trabecula number  (IAGP)
decreased bone volume  (IAGP)
decreased chondrocyte proliferation  (IAGP)
decreased embryo size  (IAGP)
decreased fetal size  (IAGP)
decreased length of long bones  (IAGP)
decreased percent body fat/body weight  (IEA)
decreased trabecular bone volume  (IAGP)
decreased width of hypertrophic chondrocyte zone  (IAGP)
delayed endochondral bone ossification  (IAGP)
disorganized long bone epiphyseal plate  (IAGP)
disorganized retina layers  (IAGP)
disproportionate dwarf  (IAGP)
distended abdomen  (IAGP)
domed cranium  (IAGP)
enlarged vertebral body  (IAGP)
enophthalmos  (IAGP)
head bobbing  (IAGP)
holoprosencephaly  (IAGP)
impaired hearing  (IAGP)
increased body weight  (IEA)
increased chondrocyte apoptosis  (IAGP)
increased compact bone thickness  (IAGP)
increased cranium length  (IEA)
increased diameter of femur  (IAGP)
increased diameter of fibula  (IAGP)
increased diameter of humerus  (IAGP)
increased diameter of long bones  (IAGP)
increased diameter of radius  (IAGP)
increased diameter of tibia  (IAGP)
increased diameter of ulna  (IAGP)
increased long bone epiphyseal plate size  (IAGP)
increased percent body fat/body weight  (IEA)
increased renal plasma flow rate  (IAGP)
kidney hemorrhage  (IAGP)
maxilla hypoplasia  (IAGP)
microcephaly  (IAGP)
micromelia  (IAGP)
midface hypoplasia  (IAGP)
nasal bone hypoplasia  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
osteoarthritis  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
persistence of notochord tissue  (IAGP)
platyspondylia  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premaxilla hypoplasia  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
proboscis  (IAGP)
prominent forehead  (IAGP)
pulmonary hypoplasia  (IAGP)
radius hypoplasia  (IAGP)
respiratory distress  (IAGP)
retrognathia  (IAGP)
seizures  (IAGP)
short facial bone  (IAGP)
short femur  (IAGP)
short fibula  (IAGP)
short humerus  (IAGP)
short limbs  (IAGP)
short lumbar vertebrae  (IAGP)
short mandible  (IAGP)
short nasal bone  (IAGP)
short radius  (IAGP)
short ribs  (IAGP)
short snout  (IAGP)
short tibia  (IAGP)
short ulna  (IAGP)
short vertebral column  (IAGP)
shortened head  (IAGP)
small cranium  (IAGP)
small thoracic cage  (IAGP)
spinning  (IAGP)
vertebral body hypoplasia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Ahmad NN, etal., Arch Ophthalmol. 1995 Nov;113(11):1454-7.
2. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Ahmad NN, etal., J Med Genet. 1996 Aug;33(8):678-81.
3. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Ahmad NN, etal., Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7.
4. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Ballo R, etal., Am J Med Genet. 1998 Oct 30;80(1):6-11.
5. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. Cao LH, etal., Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.
6. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. Carlson KM, etal., J Rheumatol. 2006 Jun;33(6):1133-6.
7. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. Donahue LR, etal., J Bone Miner Res 2003 Sep;18(9):1612-21.
8. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Edwards TL, etal., Clin Experiment Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.
9. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. Furuichi T, etal., Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.
10. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
11. A rat tail temporary static compression model reproduces different stages of intervertebral disc degeneration with decreased notochordal cell phenotype. Hirata H, etal., J Orthop Res. 2014 Mar;32(3):455-63. doi: 10.1002/jor.22533. Epub 2013 Nov 28.
12. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP, etal., Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24.
13. [Preventive and therapeutic effects of Yiqi Huayu Recipe on degeneration of articular cartilage in rats with osteoarthritis]. Hou W, etal., Zhong Xi Yi Jie He Xue Bao. 2009 Feb;7(2):163-8.
14. Host genetic and epigenetic factors in toxoplasmosis. Jamieson SE, etal., Mem Inst Oswaldo Cruz. 2009 Mar;104(2):162-9.
15. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. Jamieson SE, etal., PLoS One. 2008 Jun 4;3(6):e2285. doi: 10.1371/journal.pone.0002285.
16. Mechanism of Yiqi Huayu Bushen Recipe in treating cervical syndrome with kidney deficiency in rats Jiang JC, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Dec;6(12):1280-5. doi: 10.3736/jcim200812114.
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26. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
27. MGDs mouse GO annotations MGD data from the GO Consortium
28. MGD IEA MGD IEA
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31. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
32. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
33. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
34. Mouse MP Annotation Import Pipeline RGD automated import pipeline
35. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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45. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Van Der Hout AH, etal., Hum Mutat. 2002 Sep;20(3):236.
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49. Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population. Xue F, etal., Orthod Craniofac Res. 2014 Aug;17(3):144-9. doi: 10.1111/ocr.12038. Epub 2014 Jan 5.
50. Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. Zechi-Ceide RM, etal., Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9.
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Genomics

Comparative Map Data
Col2a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391597,873,483 - 97,902,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1597,873,483 - 97,902,576 (-)EnsemblGRCm39 Ensembl
GRCm381597,975,602 - 98,004,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1597,975,602 - 98,004,695 (-)EnsemblGRCm38mm10GRCm38
MGSCv371597,806,033 - 97,835,155 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,803,005 - 97,832,679 (-)NCBIMGSCv36mm8
Celera15100,100,464 - 100,129,552 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1553.97NCBI
COL2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,366,750 - 48,398,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBIT2T-CHM13v2.0
Col2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27129,098,489 - 129,127,620 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,098,786 - 129,127,546 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7130,895,443 - 130,924,189 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.07133,120,981 - 133,149,729 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.07133,033,447 - 133,062,197 (-)NCBIRnor_WKY
Rnor_6.07139,454,945 - 139,484,403 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7139,455,242 - 139,483,997 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07139,646,698 - 139,675,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47136,679,219 - 136,707,976 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17136,755,655 - 136,784,413 (-)NCBI
Celera7125,589,749 - 125,618,504 (-)NCBICelera
RH 3.4 Map71096.2RGD
Cytogenetic Map7q36NCBI
Col2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555006,860,771 - 6,885,473 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555006,860,771 - 6,885,466 (-)NCBIChiLan1.0ChiLan1.0
COL2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11246,157,299 - 46,188,845 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01240,726,137 - 40,757,690 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11241,600,206 - 41,631,789 (+)NCBIpanpan1.1PanPan1.1panPan2
COL2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,756,994 - 6,787,733 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,756,994 - 6,787,733 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2739,518,936 - 39,549,645 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0276,824,733 - 6,855,569 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl276,824,865 - 6,855,569 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,762,038 - 6,792,716 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,796,986 - 6,827,666 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02739,807,429 - 39,838,181 (-)NCBIUU_Cfam_GSD_1.0
Col2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494567,272,043 - 67,302,897 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365125,861,933 - 5,892,853 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365125,861,933 - 5,894,898 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl578,350,137 - 78,380,718 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1578,350,131 - 78,380,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2581,530,406 - 81,554,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL2A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11144,196,213 - 44,227,718 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1144,196,094 - 44,227,468 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037202,151,602 - 202,183,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col2a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248164,274,219 - 4,304,513 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248164,273,969 - 4,304,519 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Col2a1
1086 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
Mir29b-1mmu-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21665270
Mir29ammu-miR-29a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21665270
Mir29b-2mmu-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21665270

Predicted Target Of
Summary Value
Count of predictions:2066
Count of miRNA genes:748
Interacting mature miRNAs:937
Transcripts:ENSMUST00000023123, ENSMUST00000088355, ENSMUST00000127879, ENSMUST00000128547, ENSMUST00000131560, ENSMUST00000131910, ENSMUST00000133488, ENSMUST00000139246, ENSMUST00000140064
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
26884442Sklq6_mskull length QTL 6, 5 week (mouse)156129481100797881Mouse
1357526Hyplip2_mhyperlipidemia 2 (mouse)Not determined1512402203102896555Mouse
26884425Cvht2_mcranial vault height 2, 5 week (mouse)1528800146102008435Mouse
1558985Eae32_mexperimental allergic encephalomyelitis susceptibility 32 (mouse)Not determined1532578416103425899Mouse
26884397Humsd5_mhumerus midshaft diameter 5, 10 week (mouse)154836339698397881Mouse
26884399Humsd1_mhumerus midshaft diameter 1, 5 week (mouse)1548363396101708435Mouse
1302074Bmd4_mbone mineral density 4 (mouse)Not determined1556186708103425899Mouse
1302197Bhr2_mbronchial hyperresponsiveness 2 (mouse)Not determined1564306334103425899Mouse
4141135Cia35_mcollagen induced arthritis 35 (mouse)Not determined156481182698811946Mouse
1301119Drb7_mdopamine receptor binding 7 (mouse)Not determined156533657899341028Mouse
1301171Brm2_mbrachyury modifier 2 (mouse)Not determined156552537699525499Mouse
4141921Pstc3_mperiosteal circumference 3 (mouse)Not determined1567270698101270847Mouse
1300627Sluc26_msusceptibility to lung cancer 26 (mouse)Not determined1570345653104073951Mouse
1300648Dbsty4_mdiabesity 4 (mouse)Not determined1570349271104073951Mouse
1300726Pitm4_mprion incubation time 4 (mouse)Not determined1570349271104073951Mouse
14747011Mancz13_mmandible centroid size 13 (mouse)1572382669104073951Mouse
12791003Aath8_maortic arch atherosclerosis 8 (mouse)1573430144104073951Mouse
1300851Heal4_mwound healing/regeneration 4 (mouse)Not determined1577527592104073951Mouse
4142060W3q6_mweight 3 weeks QTL 6 (mouse)Not determined78601103102901704Mouse
1357894Epfpq3_mepididymal fat percentage QTL 3 (mouse)Not determined1578601103102901704Mouse
14928306Manh79_mmandible shape 79 (mouse)1578847557104073951Mouse
12880411V125Dq11_mvitamin D active form serum level QTL 11 (mouse)1578897881104073951Mouse
10402490Dipa5_mdrug induced psychomotor activation 5 (mouse)Not determined1579163411104073951Mouse
4141897Imrfq2_mimmune response to Factor IX QTL 2 (mouse)Not determined79908940104073951Mouse
1301284Cosz3_mcocaine seizure 3 (mouse)Not determined1580313634104073951Mouse
4141902Cia37_mcollagen induced arthritis 37 (mouse)Not determined1580884933104073951Mouse
1300974Pgia9_mproteoglycan induced arthritis 9 (mouse)Not determined1580884933104073951Mouse
4141511Gdcr1_mglycerolphosphate dehydrogenase regulator 1 (mouse)Not determined82615474104073951Mouse
11530037Sluc34a_msusceptibility to lung cancer 34a (mouse)1585896437104073951Mouse
11530038Sluc34b_msusceptibility to lung cancer 34b (mouse)1585896437104073951Mouse
1357614Bmca_mbile mucin accumulation (mouse)Not determined1585896437104073951Mouse
1301918Skull22_mskull morphology 22 (mouse)Not determined1585901546104073951Mouse
4141581Dshv1_mdorsal hippocampal volume 1 (mouse)Not determined92788640103425899Mouse
14700689Carg5_mCandida albicans resistance gene 5 (mouse)1597697881103008427Mouse
11528547Sluc34_msusceptibility to lung cancer 34 (mouse)1597884933102896555Mouse

Markers in Region
RH128349  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,975,764 - 97,975,952UniSTSGRCm38
MGSCv371597,806,195 - 97,806,383UniSTSGRCm37
Celera15100,100,627 - 100,100,815UniSTS
Cytogenetic Map15F1UniSTS
cM Map1554.5UniSTS
D15Mit41  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,987,052 - 97,987,160UniSTSGRCm38
MGSCv371597,817,483 - 97,817,591UniSTSGRCm37
Celera15100,111,913 - 100,112,021UniSTS
Cytogenetic Map15F1UniSTS
cM Map1558.8UniSTS
Whitehead Genetic1557.9UniSTS
Whitehead/MRC_RH15863.8UniSTS
Whitehead_YAC15 UniSTS
D15Mit43  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,990,574 - 97,990,774UniSTSGRCm38
MGSCv371597,821,005 - 97,821,205UniSTSGRCm37
Celera15100,115,399 - 100,115,602UniSTS
Cytogenetic Map15F1UniSTS
cM Map1560.4UniSTS
Whitehead Genetic1563.4UniSTS
PMC156609P2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381598,000,508 - 98,000,583UniSTSGRCm38
MGSCv371597,830,939 - 97,831,014UniSTSGRCm37
Celera15100,125,336 - 100,125,411UniSTS
Cytogenetic Map15F1UniSTS
cM Map1554.5UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv371597,807,162 - 97,807,681UniSTSGRCm37
MGSCv371597,806,594 - 97,807,679UniSTSGRCm37
MGSCv371597,806,442 - 97,806,614UniSTSGRCm37
MGSCv371597,807,132 - 97,807,261UniSTSGRCm37
Celera15100,100,874 - 100,101,046UniSTS
Celera15100,101,564 - 100,101,693UniSTS
Celera15100,101,594 - 100,102,113UniSTS
Celera15100,101,026 - 100,102,111UniSTS
Cytogenetic Map15F1UniSTS
cM Map1554.5UniSTS
cM Map1554.5UniSTS
GDB:177260  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,976,784 - 97,977,364UniSTSGRCm38
GRCm3864,538,631 - 4,539,563UniSTSGRCm38
MGSCv371597,807,215 - 97,807,795UniSTSGRCm37
MGSCv3764,488,631 - 4,489,563UniSTSGRCm37
Celera64,681,154 - 4,682,086UniSTS
Celera15100,101,647 - 100,102,227UniSTS
Cytogenetic Map6A1UniSTS
Cytogenetic Map15F1UniSTS
cM Map60.68UniSTS
cM Map1554.5UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,976,701 - 97,976,830UniSTSGRCm38
MGSCv371597,807,132 - 97,807,261UniSTSGRCm37
Celera15100,101,564 - 100,101,693UniSTS
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15F1UniSTS
cM Map1554.5UniSTS
COL2A1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,976,731 - 97,977,250UniSTSGRCm38
MGSCv371597,807,162 - 97,807,681UniSTSGRCm37
Celera15100,101,594 - 100,102,113UniSTS
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,976,163 - 97,977,248UniSTSGRCm38
MGSCv371597,806,594 - 97,807,679UniSTSGRCm37
Celera15100,101,026 - 100,102,111UniSTS
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381597,976,011 - 97,976,183UniSTSGRCm38
MGSCv371597,806,442 - 97,806,614UniSTSGRCm37
Celera15100,100,874 - 100,101,046UniSTS
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15F1UniSTS
Col2a1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15F1UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001113515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_177066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC113444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK028295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK053784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK132311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF728108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CJ306441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000023123   ⟹   ENSMUSP00000023123
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,873,483 - 97,902,576 (-)Ensembl
GRCm38.p6 Ensembl1597,975,602 - 98,004,695 (-)Ensembl
RefSeq Acc Id: ENSMUST00000088355   ⟹   ENSMUSP00000085693
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,873,483 - 97,902,538 (-)Ensembl
GRCm38.p6 Ensembl1597,975,602 - 98,004,657 (-)Ensembl
RefSeq Acc Id: ENSMUST00000127879
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,896,252 - 97,899,768 (-)Ensembl
GRCm38.p6 Ensembl1597,998,371 - 98,001,887 (-)Ensembl
RefSeq Acc Id: ENSMUST00000128547
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,885,992 - 97,888,357 (-)Ensembl
GRCm38.p6 Ensembl1597,988,111 - 97,990,476 (-)Ensembl
RefSeq Acc Id: ENSMUST00000131560
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,874,600 - 97,898,386 (-)Ensembl
GRCm38.p6 Ensembl1597,976,719 - 98,000,505 (-)Ensembl
RefSeq Acc Id: ENSMUST00000131910
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,884,190 - 97,886,802 (-)Ensembl
GRCm38.p6 Ensembl1597,986,309 - 97,988,921 (-)Ensembl
RefSeq Acc Id: ENSMUST00000133488
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,892,900 - 97,897,574 (-)Ensembl
GRCm38.p6 Ensembl1597,995,019 - 97,999,693 (-)Ensembl
RefSeq Acc Id: ENSMUST00000139246
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,892,749 - 97,897,346 (-)Ensembl
GRCm38.p6 Ensembl1597,994,868 - 97,999,465 (-)Ensembl
RefSeq Acc Id: ENSMUST00000140064
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,898,124 - 97,902,538 (-)Ensembl
GRCm38.p6 Ensembl1598,000,243 - 98,004,657 (-)Ensembl
RefSeq Acc Id: ENSMUST00000230148
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1597,898,707 - 97,902,372 (-)Ensembl
GRCm38.p6 Ensembl1598,000,826 - 98,004,491 (-)Ensembl
RefSeq Acc Id: NM_001113515   ⟹   NP_001106987
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391597,873,483 - 97,902,525 (-)NCBI
GRCm381597,975,602 - 98,004,724 (-)ENTREZGENE
MGSCv371597,806,033 - 97,835,155 (-)RGD
Celera15100,100,464 - 100,129,552 (-)RGD
cM Map15 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_031163   ⟹   NP_112440
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391597,873,483 - 97,902,525 (-)NCBI
GRCm381597,975,602 - 98,004,724 (-)ENTREZGENE
MGSCv371597,806,033 - 97,835,155 (-)RGD
Celera15100,100,464 - 100,129,552 (-)RGD
cM Map15 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_177066
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391597,873,483 - 97,902,525 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_112440   ⟸   NM_031163
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8K0N6 (UniProtKB/Swiss-Prot),   P28481 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106987   ⟸   NM_001113515
- Peptide Label: isoform 2 precursor
- UniProtKB: P28481 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000085693   ⟸   ENSMUST00000088355
RefSeq Acc Id: ENSMUSP00000023123   ⟸   ENSMUST00000023123
Protein Domains
Fibrillar collagen NC1   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28481-F1-model_v2 AlphaFold P28481 1-1487 view protein structure

Promoters
RGD ID:6825865
Promoter ID:MM_KWN:19591
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:MEF_B4
Transcripts:ENSMUST00000088354,   ENSMUST00000088359,   ENSMUST00000109174,   OTTMUST00000051506,   OTTMUST00000083592,   UC007XLP.1,   UC007XLQ.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361597,834,726 - 97,835,226 (-)MPROMDB
RGD ID:8684926
Promoter ID:EPDNEW_M20472
Type:initiation region
Name:Col2a1_1
Description:Mus musculus collagen, type II, alpha 1 , transcript variant2, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381598,004,644 - 98,004,704EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:88452 AgrOrtholog
Ensembl Genes ENSMUSG00000022483 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSMUSP00000023123 ENTREZGENE
  ENSMUSP00000023123.9 UniProtKB/Swiss-Prot
  ENSMUSP00000085693 ENTREZGENE
  ENSMUSP00000085693.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000023123 ENTREZGENE
  ENSMUST00000023123.15 UniProtKB/Swiss-Prot
  ENSMUST00000088355 ENTREZGENE
  ENSMUST00000088355.12 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.1000 UniProtKB/Swiss-Prot
  Complement Module, domain 1 UniProtKB/Swiss-Prot
InterPro Collagen UniProtKB/Swiss-Prot
  Fib_collagen_C UniProtKB/Swiss-Prot
  VWF_dom UniProtKB/Swiss-Prot
KEGG Report mmu:12824 UniProtKB/Swiss-Prot
MGD MGI:88452 ENTREZGENE
NCBI Gene 12824 ENTREZGENE
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot
  COLLAGEN ALPHA-1(II) CHAIN UniProtKB/Swiss-Prot
Pfam COLFI UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
PhenoGen Col2a1 PhenoGen
PROSITE NC1_FIB UniProtKB/Swiss-Prot
  VWFC_1 UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
SMART COLFI UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot
UniProt CO2A1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q8K0N6 ENTREZGENE
UniProt Secondary Q61428 UniProtKB/Swiss-Prot
  Q62031 UniProtKB/Swiss-Prot
  Q62032 UniProtKB/Swiss-Prot
  Q62033 UniProtKB/Swiss-Prot
  Q641K3 UniProtKB/Swiss-Prot
  Q6LDB1 UniProtKB/Swiss-Prot
  Q6LDI8 UniProtKB/Swiss-Prot
  Q6LDI9 UniProtKB/Swiss-Prot
  Q80VY3 UniProtKB/Swiss-Prot
  Q80X38 UniProtKB/Swiss-Prot
  Q8CEF7 UniProtKB/Swiss-Prot
  Q8K0N6 UniProtKB/Swiss-Prot