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Tbio Collagen alpha-2(I) chain

Type I collagen is a member of group I collagen (fibrillar forming collagen).

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 291
PubMed Score 404.01
PubTator Score 1267.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Dentinogenesis imperfecta 25
Systemic scleroderma 60
Otosclerosis 15
Abnormality of pelvic girdle bone morphology 37
Abnormality of the thorax 19
Absent ossification of calvaria 2
Acquired flat foot 72
Acquired scoliosis 281
Aortic Valve Insufficiency 40
Atrophic scar 18
Autosomal recessive predisposition 1442
Beading of ribs 6
Biconcave flattened vertebrae 2
Biconcave vertebral bodies 9
Bilateral congenital dislocation of hip 2
Blue sclera 32
Bowing of limbs due to multiple fractures 3
Breech Presentation 10
Broad long bones 5
Calcaneovalgus deformity 8
Congenital deafness 185
Congenital neurologic anomalies 20
Congestive heart failure 113
Convex nasal ridge 37
Crumpled long bones 5
Curvature of spine 282
Deafness 198
Decreased bone mineral density Z score 31
Decreased projection of midface 105
Degenerative polyarthritis 115
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 2
Ecchymosis 66
Excessive wrinkled skin 16
Femoral bowing present at birth, straightening with time 2
Flatfoot 73
Frequent fractures 53
Frontal bossing 157
Gastroesophageal reflux disease 110
Generalized osteopenia 99
Genu recurvatum 12
Gross motor development delay 21
Haemorrhage subcutaneous 10
Hearing Loss, Partial 185
Heart failure 162
Heart valve disease 39
Heartburn 78
Hernia 9
Hernia, Inguinal 89
Hydrops Fetalis, Non-Immune 8
Hyperkyphosis 111
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Increased fracture rate 53
Increased susceptibility to fractures 21
Increased tendency to bruise 66
Joint hyperflexibility 78
Joint laxity 54
Kyphosis deformity of spine 114
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Lobstein's Disease 2
Low Birth Weights 69
Malar flattening 129
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Multiple fractures present at birth 5
Muscle Weakness 170
Muscle hypotonia 571
Osteogenesis imperfecta type III (disorder) 11
Osteogenesis imperfecta type IV (disorder) 10
Osteogenesis imperfecta, dominant perinatal lethal 5
Osteopenia 99
Pectus excavatum 100
Platybasia 13
Platyspondyly 56
Poor wound healing 8
Premature Birth 77
Premature birth of newborn 67
Premature osteoarthritis 6
Protrusio acetabuli 7
Pulmonary Valve Insufficiency 9
Pulmonary hypertension 85
Relative short stature 13
Respiratory Insufficiency 132
Respiratory function loss 121
Severe osteoporosis 2
Short limb dwarfism recognizable at birth 9
Short limb dwarfism, disproportionate 22
Short stature 531
Short stature, mild 13
Skin hyperelastic 32
Slender, gracile long tubular bones 21
Small for gestational age (disorder) 69
Small midface 105
Soft calvaria 8
Soft skin 17
Spontaneous abortion 113
Structure of wormian bone 24
Thin skin 47
Tibial bowing 19
Triangular face 58
Varying degree of multiple fractures 53
Velvety skin 17
Wide anterior fontanel 44
Wide bregma sutures 46
hearing impairment 199
pulmonary arterial hypertension 75
Disease Target Count P-value
psoriasis 6694 1.7e-13
breast carcinoma 1638 5.9e-11
non-small cell lung cancer 2890 1.8e-10
lung adenocarcinoma 2716 2.2e-08
medulloblastoma, large-cell 6241 1.7e-07
juvenile dermatomyositis 1187 3.1e-07
Duchenne muscular dystrophy 601 4.8e-07
pituitary cancer 1972 3.1e-06
glioblastoma 5792 2.9e-05
urothelial carcinoma 318 6.4e-05
lung cancer 4740 1.5e-04
Astrocytoma, Pilocytic 3081 1.5e-04
limb girdle muscular dystrophy 2A 213 4.4e-04
atypical teratoid / rhabdoid tumor 5112 8.5e-04
oligodendroglioma 2850 9.8e-04
astrocytoma 1146 1.1e-03
ovarian cancer 8520 1.2e-03
pancreatic cancer 2398 1.9e-03
osteosarcoma 7950 2.1e-03
adult high grade glioma 3801 2.4e-03
Atopic dermatitis 952 2.7e-03
nasopharyngeal carcinoma 1058 3.3e-03
autosomal dominant Emery-Dreifuss muscular dystrophy 510 3.8e-03
subependymal giant cell astrocytoma 2287 3.9e-03
intraductal papillary-mucinous adenoma (IPMA) 2955 5.1e-03
gastric carcinoma 807 5.8e-03
group 3 medulloblastoma 4104 7.1e-03
colon cancer 1478 7.8e-03
active ulcerative colitis 764 1.2e-02
Pick disease 1894 1.2e-02
ductal carcinoma in situ 1745 1.5e-02
non primary Sjogren syndrome sicca 891 1.7e-02
nephrosclerosis 333 1.8e-02
Becker muscular dystrophy 191 1.8e-02
ependymoma 4679 2.1e-02
esophageal adenocarcinoma 737 2.2e-02
cystic fibrosis 1696 2.3e-02
primitive neuroectodermal tumor 3035 2.4e-02
interstitial lung disease 298 2.4e-02
pancreatic ductal adenocarcinoma liver metastasis 1962 3.0e-02
head and neck cancer and chronic obstructive pulmonary disease 239 3.1e-02
pterygium 76 3.3e-02
invasive ductal carcinoma 2951 3.6e-02
diabetes mellitus 1728 3.8e-02
active Crohn's disease 922 3.9e-02
head and neck cancer 271 4.0e-02
Breast cancer 3578 4.5e-02
intraductal papillary-mucinous carcinoma (IPMC) 2989 4.6e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
DOID:2627 94 0.0 0.6
Kidney cancer 2613 0.0 0.8
Disease Target Count Z-score Confidence
Osteogenesis imperfecta 34 7.936 4.0
Ehlers-Danlos syndrome 43 5.389 2.7

Expression

  Differential Expression (48)

Disease log2 FC p
Breast cancer 2.900 4.5e-02
active Crohn's disease 2.113 3.9e-02
active ulcerative colitis 1.697 1.2e-02
adult high grade glioma 1.500 2.4e-03
astrocytoma 1.200 1.1e-03
Astrocytoma, Pilocytic 1.900 1.5e-04
Atopic dermatitis -1.600 2.7e-03
atypical teratoid / rhabdoid tumor 2.700 8.5e-04
autosomal dominant Emery-Dreifuss muscul... 1.238 3.8e-03
Becker muscular dystrophy 1.715 1.8e-02
breast carcinoma 1.600 5.9e-11
colon cancer 1.900 7.8e-03
cystic fibrosis 1.200 2.3e-02
diabetes mellitus -1.600 3.8e-02
Duchenne muscular dystrophy 2.441 4.8e-07
ductal carcinoma in situ 1.500 1.5e-02
ependymoma 1.300 2.1e-02
esophageal adenocarcinoma 1.700 2.2e-02
gastric carcinoma 2.500 5.8e-03
glioblastoma 1.800 2.9e-05
group 3 medulloblastoma 1.800 7.1e-03
head and neck cancer -1.500 4.0e-02
head and neck cancer and chronic obstruc... 1.100 3.1e-02
interstitial lung disease 1.300 2.4e-02
intraductal papillary-mucinous adenoma (... -2.300 5.1e-03
intraductal papillary-mucinous carcinoma... -2.000 4.6e-02
invasive ductal carcinoma 1.299 3.6e-02
juvenile dermatomyositis 1.655 3.1e-07
limb girdle muscular dystrophy 2A 1.769 4.4e-04
lung adenocarcinoma 1.300 2.2e-08
lung cancer 1.300 1.5e-04
medulloblastoma, large-cell 3.000 1.7e-07
nasopharyngeal carcinoma 1.200 3.3e-03
nephrosclerosis 1.207 1.8e-02
non primary Sjogren syndrome sicca 1.500 1.7e-02
non-small cell lung cancer 1.197 1.8e-10
oligodendroglioma 1.300 9.8e-04
osteosarcoma 1.514 2.1e-03
ovarian cancer -2.300 1.2e-03
pancreatic cancer 1.300 1.9e-03
pancreatic ductal adenocarcinoma liver m... 1.784 3.0e-02
Pick disease 1.600 1.2e-02
pituitary cancer -2.300 3.1e-06
primitive neuroectodermal tumor 1.500 2.4e-02
psoriasis -1.200 1.7e-13
pterygium 1.900 3.3e-02
subependymal giant cell astrocytoma 3.986 3.9e-03
urothelial carcinoma 3.400 6.4e-05

Synonym

Accession P08123 P02464 Q13897 Q13997 Q13998 Q14038 Q14057 Q15177 Q15947 Q16480 Q16511 Q7Z5S6 Q9UEB6 Q9UEF9 Q9UM83 Q9UMI1 Q9UML5 Q9UMM6 Q9UPH0
Symbols OI4
EDSCV
EDSARTH2

Gene

COL1A2

  Ortholog (11)

Species Source Disease
Inparanoid OMA
Inparanoid OMA
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA

 UniProt Keyword (21)

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 GO Function (7)

 GO Component (7)

 GO Process (16)

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 Compartment GO Term (38)

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 IMPC Phenotype (8)

 OMIM Phenotype (6)

 MGI Phenotype (11)

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 GWAS Trait (4)

 HCA RNA Cell Line (53)

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 CSPA Cell Line (13)

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Pathway (41)

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Protein-protein Interaction (2)

COL1A1   P4HB  

PDB (3)

Gene RIF (178)

AA Sequence 

MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGP      1 - 70
PGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGK     71 - 140
AGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTP    141 - 210
GQTGARGLPGERGRVGAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAG    211 - 280
PRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGP    281 - 350
AGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP    351 - 420
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPG    421 - 490
NIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGP    491 - 560
SGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAV    561 - 630
GTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAG    631 - 700
PAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGP    701 - 770
PGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP    771 - 840
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPG    841 - 910
AVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGE    911 - 980
TGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPA    981 - 1050
GPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRAD   1051 - 1120
QPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDA   1121 - 1190
IKVYCDFSTGETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL   1191 - 1260
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIE   1261 - 1330
YKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK                                     1331 - 1366
//

Text Mined References (298)

PMID Year Title