Details for: COL2A1
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: hepatoblast (CL0005026)
Fold Change: 3.53
Marker Score: 11552 - Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 2.49
Marker Score: 10394 - Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
Fold Change: 1.82
Marker Score: 545 - Cell Name: neural crest cell (CL0011012)
Fold Change: 1.78
Marker Score: 1902 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 1.68
Marker Score: 3517 - Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 1.66
Marker Score: 1558 - Cell Name: Sertoli cell (CL0000216)
Fold Change: 1.62
Marker Score: 9609.5 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1172 - Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 1.38
Marker Score: 758 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.34
Marker Score: 4980 - Cell Name: goblet cell (CL0000160)
Fold Change: 1.13
Marker Score: 7517 - Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 1.13
Marker Score: 708 - Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 1.07
Marker Score: 764 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71827 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48052 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 510 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.99
Marker Score: 454 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30408 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 463 - Cell Name: neural cell (CL0002319)
Fold Change: 0.97
Marker Score: 466 - Cell Name: chondrocyte (CL0000138)
Fold Change: 0.96
Marker Score: 432.5 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.94
Marker Score: 1780 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.94
Marker Score: 375 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5339 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2741 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.91
Marker Score: 965 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.91
Marker Score: 326 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.88
Marker Score: 13746 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.88
Marker Score: 1489 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5296 - Cell Name: acinar cell (CL0000622)
Fold Change: 0.86
Marker Score: 608 - Cell Name: enteric neuron (CL0007011)
Fold Change: 0.84
Marker Score: 449 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.84
Marker Score: 638.5 - Cell Name: hepatocyte (CL0000182)
Fold Change: 0.81
Marker Score: 551 - Cell Name: mast cell (CL0000097)
Fold Change: 0.79
Marker Score: 456 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1267 - Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.78
Marker Score: 827 - Cell Name: mesothelial cell (CL0000077)
Fold Change: 0.78
Marker Score: 313 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.78
Marker Score: 3263 - Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 705 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.77
Marker Score: 398 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.73
Marker Score: 468 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.7
Marker Score: 180 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.69
Marker Score: 222 - Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 0.67
Marker Score: 1383 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.64
Marker Score: 1297 - Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.63
Marker Score: 235 - Cell Name: mesangial cell (CL0000650)
Fold Change: 0.63
Marker Score: 759.5 - Cell Name: plasma cell (CL0000786)
Fold Change: 0.59
Marker Score: 661 - Cell Name: Unknown (CL0002371)
Fold Change: 0.58
Marker Score: 621 - Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.56
Marker Score: 293 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 443 - Cell Name: B cell (CL0000236)
Fold Change: 0.55
Marker Score: 519 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.54
Marker Score: 225 - Cell Name: glial cell (CL0000125)
Fold Change: 0.51
Marker Score: 561 - Cell Name: osteoblast (CL0000062)
Fold Change: 0.51
Marker Score: 273 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.49
Marker Score: 330 - Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.48
Marker Score: 6294 - Cell Name: Schwann cell (CL0002573)
Fold Change: 0.47
Marker Score: 162 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.47
Marker Score: 278 - Cell Name: preosteoblast (CL0007010)
Fold Change: 0.46
Marker Score: 131 - Cell Name: neuroendocrine cell (CL0000165)
Fold Change: 0.46
Marker Score: 178 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.44
Marker Score: 263 - Cell Name: Schwann cell precursor (CL0002375)
Fold Change: 0.43
Marker Score: 108 - Cell Name: erythroblast (CL0000765)
Fold Change: 0.43
Marker Score: 271 - Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.43
Marker Score: 657 - Cell Name: starburst amacrine cell (CL0004232)
Fold Change: 0.42
Marker Score: 119 - Cell Name: Mueller cell (CL0000636)
Fold Change: 0.4
Marker Score: 560 - Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 0.39
Marker Score: 130 - Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.39
Marker Score: 125 - Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.38
Marker Score: 1035 - Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.38
Marker Score: 138 - Cell Name: myeloid cell (CL0000763)
Fold Change: 0.37
Marker Score: 588 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.37
Marker Score: 3677 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.36
Marker Score: 6386 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.36
Marker Score: 149 - Cell Name: double negative thymocyte (CL0002489)
Fold Change: 0.35
Marker Score: 482 - Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.35
Marker Score: 166 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.35
Marker Score: 110 - Cell Name: radial glial cell (CL0000681)
Fold Change: 0.34
Marker Score: 126 - Cell Name: vascular associated smooth muscle cell (CL0000359)
Fold Change: 0.28
Marker Score: 128 - Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.28
Marker Score: 175.5 - Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.27
Marker Score: 634 - Cell Name: cardiac mesenchymal cell (CL0000569)
Fold Change: 0.26
Marker Score: 64 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.25
Marker Score: 171 - Cell Name: Kupffer cell (CL0000091)
Fold Change: 0.25
Marker Score: 252 - Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.25
Marker Score: 111 - Cell Name: inhibitory motor neuron (CL0008015)
Fold Change: 0.24
Marker Score: 111.5 - Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 0.24
Marker Score: 60 - Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.24
Marker Score: 61 - Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.23
Marker Score: 238 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.23
Marker Score: 473 - Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.23
Marker Score: 54 - Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
Fold Change: 0.23
Marker Score: 449 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.23
Marker Score: 65 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.23
Marker Score: 225 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.22
Marker Score: 70 - Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.21
Marker Score: 56 - Cell Name: epithelial cell (CL0000066)
Fold Change: 0.21
Marker Score: 332
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Other Information
Genular Protein ID: 1276495279
Symbol: CO2A1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2587267
Title: Nucleotide sequence of the full length cDNA encoding for human type II procollagen.
PubMed ID: 2587267
PubMed ID: 8948452
Title: Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).
PubMed ID: 8948452
DOI: 10.1042/bj3080923
PubMed ID: 16541075
Title: The finished DNA sequence of human chromosome 12.
PubMed ID: 16541075
DOI: 10.1038/nature04569
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2803268
Title: Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.
PubMed ID: 2803268
DOI: 10.1042/bj2620521
PubMed ID: 2714801
Title: Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes.
PubMed ID: 2714801
PubMed ID: 2081599
Title: The human type II procollagen gene: identification of an additional protein-coding domain and location of potential regulatory sequences in the promoter and first intron.
PubMed ID: 2081599
PubMed ID: 3021582
Title: Promoter region of the human pro-alpha 1(II)-collagen gene.
PubMed ID: 3021582
PubMed ID: 1637314
Title: Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.
PubMed ID: 1637314
DOI: 10.1042/bj2850287
PubMed ID: 2355003
Title: Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA.
PubMed ID: 2355003
PubMed ID: 1999183
Title: Genomic organization of the human procollagen alpha 1(II) collagen gene.
PubMed ID: 1999183
PubMed ID: 8660302
Title: Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites.
PubMed ID: 8660302
DOI: 10.1042/bj3140327
PubMed ID: 8529631
Title: Immunohistochemical and biochemical analyses of 20,000-25,000-year-old fossil cartilage.
PubMed ID: 8529631
PubMed ID: 7847372
Title: An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
PubMed ID: 7847372
PubMed ID: 2987845
Title: Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.
PubMed ID: 2987845
PubMed ID: 2753125
Title: Structural analyses of the polymorphic area in type II collagen gene.
PubMed ID: 2753125
PubMed ID: 3857598
Title: Identification and characterization of the human type II collagen gene (COL2A1).
PubMed ID: 3857598
PubMed ID: 1429602
Title: An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
PubMed ID: 1429602
PubMed ID: 1905723
Title: Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
PubMed ID: 1905723
PubMed ID: 2543071
Title: Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
PubMed ID: 2543071
PubMed ID: 2339128
Title: Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
PubMed ID: 2339128
PubMed ID: 2825137
Title: Determination of the single polyadenylation site of the human pro alpha 1(II) collagen gene.
PubMed ID: 2825137
PubMed ID: 3840017
Title: Construction and identification of a cDNA clone for human type II procollagen mRNA.
PubMed ID: 3840017
DOI: 10.1042/bj2290183
PubMed ID: 3800925
Title: Chondrocalcin is identical with the C-propeptide of type II procollagen.
PubMed ID: 3800925
DOI: 10.1042/bj2370923
PubMed ID: 6320112
Title: Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.
PubMed ID: 6320112
PubMed ID: 3002437
Title: Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.
PubMed ID: 3002437
DOI: 10.1021/bi00344a004
PubMed ID: 9354468
Title: X-ray crystal structure of HLA-DR4 (DRA*0101, DRB1*0401) complexed with a peptide from human collagen II.
PubMed ID: 9354468
PubMed ID: 15466413
Title: Solution structure and dynamics of a prototypical chordin-like cysteine-rich repeat (von Willebrand Factor type C module) from collagen IIA.
PubMed ID: 15466413
PubMed ID: 26183434
Title: Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
PubMed ID: 26183434
DOI: 10.1002/humu.22839
PubMed ID: 2010058
Title: Mutations in collagen genes: causes of rare and some common diseases in humans.
PubMed ID: 2010058
PubMed ID: 9101290
Title: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
PubMed ID: 9101290
DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9
PubMed ID: 2572591
Title: Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
PubMed ID: 2572591
PubMed ID: 1975693
Title: Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
PubMed ID: 1975693
PubMed ID: 1985108
Title: Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
PubMed ID: 1985108
DOI: 10.1172/jci114994
PubMed ID: 1374906
Title: Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.
PubMed ID: 1374906
PubMed ID: 8317498
Title: Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).
PubMed ID: 8317498
PubMed ID: 8507190
Title: Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.
PubMed ID: 8507190
PubMed ID: 8486375
Title: A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
PubMed ID: 8486375
PubMed ID: 8244341
Title: Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
PubMed ID: 8244341
DOI: 10.1007/bf00216458
PubMed ID: 8325895
Title: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
PubMed ID: 8325895
PubMed ID: 8423604
Title: The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
PubMed ID: 8423604
DOI: 10.1136/jmg.30.1.27
PubMed ID: 7977371
Title: Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
PubMed ID: 7977371
PubMed ID: 7874117
Title: A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
PubMed ID: 7874117
PubMed ID: 8019561
Title: A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
PubMed ID: 8019561
PubMed ID: 7757081
Title: A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
PubMed ID: 7757081
DOI: 10.1093/hmg/4.2.285
PubMed ID: 7757086
Title: Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
PubMed ID: 7757086
DOI: 10.1093/hmg/4.2.309
PubMed ID: 7829510
Title: A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
PubMed ID: 7829510
PubMed ID: 7550321
Title: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
PubMed ID: 7550321
DOI: 10.1038/ng0995-87
PubMed ID: 8723098
Title: An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
PubMed ID: 8723098
DOI: 10.1002/(sici)1096-8628(19960503)63:1<129::aid-ajmg23>3.0.co;2-p
PubMed ID: 8863156
Title: The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
PubMed ID: 8863156
DOI: 10.1136/jmg.33.8.649
PubMed ID: 9800905
Title: Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
PubMed ID: 9800905
DOI: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0
PubMed ID: 9711874
Title: Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.
PubMed ID: 9711874
DOI: 10.1002/(sici)1098-1004(1998)12:3<172::aid-humu4>3.0.co;2-j
PubMed ID: 11007540
Title: Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.
PubMed ID: 11007540
PubMed ID: 10678662
Title: Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
PubMed ID: 10678662
DOI: 10.1002/(sici)1096-8628(20000131)90:3<239::aid-ajmg10>3.3.co;2-f
PubMed ID: 10797431
Title: Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
PubMed ID: 10797431
DOI: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9
PubMed ID: 10745044
Title: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
PubMed ID: 10745044
DOI: 10.1136/jmg.37.4.263
PubMed ID: 11746045
Title: Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
PubMed ID: 11746045
DOI: 10.1002/ajmg.10062
PubMed ID: 12205109
Title: Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
PubMed ID: 12205109
DOI: 10.1136/jmg.39.9.661
PubMed ID: 15054848
Title: Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
PubMed ID: 15054848
DOI: 10.1002/ajmg.a.20597
PubMed ID: 15316962
Title: Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
PubMed ID: 15316962
DOI: 10.1002/ajmg.a.30222
PubMed ID: 14729840
Title: Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
PubMed ID: 14729840
PubMed ID: 15643621
Title: Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
PubMed ID: 15643621
DOI: 10.1002/ajmg.a.30531
PubMed ID: 16088915
Title: Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.
PubMed ID: 16088915
DOI: 10.1002/ajmg.a.30881
PubMed ID: 15671297
Title: A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
PubMed ID: 15671297
DOI: 10.1167/iovs.04-1017
PubMed ID: 15930420
Title: Type II collagen gene variants and inherited osteonecrosis of the femoral head.
PubMed ID: 15930420
DOI: 10.1056/nejmoa042480
PubMed ID: 16752401
Title: High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
PubMed ID: 16752401
DOI: 10.1002/humu.20347
PubMed ID: 17994563
Title: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.
PubMed ID: 17994563
DOI: 10.1002/ajmg.a.32047
PubMed ID: 17394019
Title: A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family.
PubMed ID: 17394019
PubMed ID: 18553548
Title: Czech dysplasia: report of a large family and further delineation of the phenotype.
PubMed ID: 18553548
DOI: 10.1002/ajmg.a.32389
PubMed ID: 18272325
Title: Natural variation in four human collagen genes across an ethnically diverse population.
PubMed ID: 18272325
PubMed ID: 17721977
Title: Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
PubMed ID: 17721977
DOI: 10.1002/humu.20603
PubMed ID: 19764028
Title: Czech dysplasia occurring in a Japanese family.
PubMed ID: 19764028
DOI: 10.1002/ajmg.a.33010
PubMed ID: 20513134
Title: Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
PubMed ID: 20513134
DOI: 10.1002/humu.21257
PubMed ID: 21671384
Title: Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
PubMed ID: 21671384
DOI: 10.1002/ajmg.a.34056
PubMed ID: 21922596
Title: Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
PubMed ID: 21922596
DOI: 10.1002/humu.21611
PubMed ID: 28887846
Title: Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
PubMed ID: 28887846
DOI: 10.1002/humu.23335
Sequence Information:
- Length: 1487
- Mass: 141785
- Checksum: A8312503825BF0BB
- Sequence:
MIRLGAPQTL VLLTLLVAAV LRCQGQDVQE AGSCVQDGQR YNDKDVWKPE PCRICVCDTG TVLCDDIICE DVKDCLSPEI PFGECCPICP TDLATASGQP GPKGQKGEPG DIKDIVGPKG PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA AQMAGGFDEK AGGAQLGVMQ GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG PRGPPGPPGK PGDDGEAGKP GKAGERGPPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP GPAGPPGPVG PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS PGPAGASGNP GTDGIPGAKG SAGAPGIAGA PGFPGPRGPP GPQGATGPLG PKGQTGEPGI AGFKGEQGPK GEPGPAGPQG APGPAGEEGK RGARGEPGGV GPIGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLAG PKGANGDPGR PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG VMGFPGPKGA NGEPGKAGEK GLPGAPGLRG LPGKDGETGA AGPPGPAGPA GERGEQGAPG PSGFQGLPGP PGPPGEGGKP GDQGVPGEAG APGLVGPRGE RGFPGERGSP GAQGLQGPRG LPGTPGTDGP KGASGPAGPP GAQGPPGLQG MPGERGAAGI AGPKGDRGDV GEKGPEGAPG KDGGRGLTGP IGPPGPAGAN GEKGEVGPPG PAGSAGARGA PGERGETGPP GPAGFAGPPG ADGQPGAKGE QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG AAGRVGPPGS NGNPGPPGPP GPSGKDGPKG ARGDSGPPGR AGEPGLQGPA GPPGEKGEPG DDGPSGAEGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP SGEPGKQGAP GASGDRGPPG PVGPPGLTGP AGEPGREGSP GADGPPGRDG AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG PTGKQGDRGE AGAQGPMGPS GPAGARGIQG PQGPRGDKGE AGEPGERGLK GHRGFTGLQG LPGPPGPSGD QGASGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG PPGNPGPPGP PGPPGPGIDM SAFAGLGPRE KGPDPLQYMR ADQAAGGLRQ HDAEVDATLK SLNNQIESIR SPEGSRKNPA RTCRDLKLCH PEWKSGDYWI DPNQGCTLDA MKVFCNMETG ETCVYPNPAN VPKKNWWSSK SKEKKHIWFG ETINGGFHFS YGDDNLAPNT ANVQMTFLRL LSTEGSQNIT YHCKNSIAYL DEAAGNLKKA LLIQGSNDVE IRAEGNSRFT YTALKDGCTK HTGKWGKTVI EYRSQKTSRL PIIDIAPMDI GGPEQEFGVD IGPVCFL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.