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Aliases for COL1A2 Gene

Aliases for COL1A2 Gene

  • Collagen Type I Alpha 2 Chain 2 3 5
  • Collagen Of Skin, Tendon And Bone, Alpha-2 Chain 2 3
  • Collagen I, Alpha-2 Polypeptide 2 3
  • Collagen, Type I, Alpha 2 2 3
  • Alpha-2 Type I Collagen 3 4
  • Alpha 2(I)-Collagen 2 3
  • Type I Procollagen 2 3
  • Osteogenesis Imperfecta Type IV 2
  • Alpha 2 Type I Procollagen 3
  • Collagen Alpha-2(I) Chain 3
  • Alpha-2 Collagen Type I 2
  • Collagen Type I Alpha 2 2
  • Alpha 2(I) Procollagen 3
  • OI4 3

External Ids for COL1A2 Gene

Previous HGNC Symbols for COL1A2 Gene

  • OI4

Previous GeneCards Identifiers for COL1A2 Gene

  • GC07P092559
  • GC07P093622
  • GC07P093636
  • GC07P093668
  • GC07P093861
  • GC07P094023
  • GC07P088631

Summaries for COL1A2 Gene

Entrez Gene Summary for COL1A2 Gene

  • 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]

GeneCards Summary for COL1A2 Gene

COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iv and Osteogenesis Imperfecta, Type Iii. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include identical protein binding and protein binding, bridging. An important paralog of this gene is COL2A1.

UniProtKB/Swiss-Prot for COL1A2 Gene

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

Gene Wiki entry for COL1A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL1A2 Gene

Genomics for COL1A2 Gene

Regulatory Elements for COL1A2 Gene

Enhancers for COL1A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F094366 1.5 FANTOM5 Ensembl ENCODE 16.8 -25.9 -25923 4.0 JUND RAD21 ZBTB20 COL1A2 SGCE GNG11 GC07P094390 GC07P094145
GH07F094402 0.4 ENCODE 11.9 +20.8 20771 26.5 PKNOX1 ZBTB40 CBX5 SCRT2 FOS PAF1 JUNB ZEB2 ZNF623 TBX21 COL1A2 RNU6-1328P CASD1 GC07P094428 GC07P094427 LOC101927525
GH07F094295 1.1 FANTOM5 Ensembl ENCODE 5.5 -94.3 -94281 9.6 TBP SIN3A NFXL1 ZNF48 RAD21 RARA ZNF121 ZNF207 FOS MIXL1 COL1A2 SGCE GC07P094390 GC07P094145
GH07F094389 1.4 FANTOM5 Ensembl ENCODE 0.8 +0.7 704 12.4 ATF1 SIN3A RAD21 YY1 CREM ZNF263 ZNF654 REST TBX21 NR2F2 COL1A2 LOC101927525
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COL1A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL1A2 Gene

Chromosome:
7
Start:
94,394,561 bp from pter
End:
94,431,232 bp from pter
Size:
36,672 bases
Orientation:
Plus strand

Genomic View for COL1A2 Gene

Genes around COL1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL1A2 Gene

Proteins for COL1A2 Gene

  • Protein details for COL1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08123-CO1A2_HUMAN
    Recommended name:
    Collagen alpha-2(I) chain
    Protein Accession:
    P08123
    Secondary Accessions:
    • P02464
    • Q13897
    • Q13997
    • Q13998
    • Q14038
    • Q14057
    • Q15177
    • Q15947
    • Q16480
    • Q16511
    • Q7Z5S6
    • Q9UEB6
    • Q9UEF9
    • Q9UM83
    • Q9UMI1
    • Q9UML5
    • Q9UMM6
    • Q9UPH0

    Protein attributes for COL1A2 Gene

    Size:
    1366 amino acids
    Molecular mass:
    129314 Da
    Quaternary structure:
    • Trimers of one alpha 2(I) and two alpha 1(I) chains.

    Three dimensional structures from OCA and Proteopedia for COL1A2 Gene

neXtProt entry for COL1A2 Gene

Post-translational modifications for COL1A2 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Thr 1138 and Asn 1267
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL1A2

No data available for DME Specific Peptides for COL1A2 Gene

Domains & Families for COL1A2 Gene

Gene Families for COL1A2 Gene

Graphical View of Domain Structure for InterPro Entry

P08123

UniProtKB/Swiss-Prot:

CO1A2_HUMAN :
  • 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).
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Contains 1 fibrillar collagen NC1 domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL1A2: view

Function for COL1A2 Gene

Molecular function for COL1A2 Gene

GENATLAS Biochemistry:
collagen type I,alpha 2,fibril forming,putative down-regulated c-Myc target gene,
UniProtKB/Swiss-Prot Function:
Type I collagen is a member of group I collagen (fibrillar forming collagen).

Gene Ontology (GO) - Molecular Function for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA,NAS 8982144
GO:0005515 protein binding IPI 18375391
GO:0030674 protein binding, bridging IMP 18375391
GO:0042802 identical protein binding IDA 17211858
GO:0046332 SMAD binding IEA --
genes like me logo Genes that share ontologies with COL1A2: view
genes like me logo Genes that share phenotypes with COL1A2: view

Human Phenotype Ontology for COL1A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL1A2 Gene

MGI Knock Outs for COL1A2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL1A2 Gene

Localization for COL1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL1A2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL1A2 Gene COMPARTMENTS Subcellular localization image for COL1A2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
nucleus 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005584 collagen type I trimer IEA,TAS 6267597
GO:0005615 extracellular space IEA,IDA 18375391
genes like me logo Genes that share ontologies with COL1A2: view

Pathways & Interactions for COL1A2 Gene

genes like me logo Genes that share pathways with COL1A2: view

SIGNOR curated interactions for COL1A2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 8841196
GO:0001568 blood vessel development IMP 17211858
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 17217948
GO:0007266 Rho protein signal transduction IDA 17217948
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with COL1A2: view

Drugs & Compounds for COL1A2 Gene

(15) Drugs for COL1A2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase clostridium histolyticum Approved, Investigational Pharma Target 0
Collagenase Pharma 0
calcium Nutra 0

(13) Additional Compounds for COL1A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL1A2: view

Transcripts for COL1A2 Gene

Unigene Clusters for COL1A2 Gene

Collagen, type I, alpha 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2: - - - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5: - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41a · 41b · 41c ^ 42 ^ 43a ·
SP1: - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP3: - - -
SP4: -
SP5: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 43b ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b · 46c · 46d ^ 47a · 47b ^ 48a · 48b · 48c ^ 49 ^ 50
SP1: - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for COL1A2 Gene

GeneLoc Exon Structure for
COL1A2
ECgene alternative splicing isoforms for
COL1A2

Expression for COL1A2 Gene

mRNA expression in normal human tissues for COL1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL1A2 Gene

This gene is overexpressed in Urinary Bladder (10.0), Breast (7.8), Amniocyte (7.7), and Bone marrow stromal cell (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL1A2 Gene



Protein tissue co-expression partners for COL1A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL1A2 Gene:

COL1A2

SOURCE GeneReport for Unigene cluster for COL1A2 Gene:

Hs.489142

mRNA Expression by UniProt/SwissProt for COL1A2 Gene:

P08123-CO1A2_HUMAN
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
genes like me logo Genes that share expression patterns with COL1A2: view

Primer Products

No data available for mRNA differential expression in normal tissues for COL1A2 Gene

Orthologs for COL1A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL1A2 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia COL1A2 34 35
  • 91.63 (n)
cow
(Bos Taurus)
Mammalia COL1A2 34 35
  • 89.96 (n)
rat
(Rattus norvegicus)
Mammalia Col1a2 34
  • 88.51 (n)
mouse
(Mus musculus)
Mammalia Col1a2 34 16 35
  • 87.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A2 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL1A2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL1A2 34 35
  • 80.16 (n)
lizard
(Anolis carolinensis)
Reptilia COL1A2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col1a2 34
  • 74.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia col1a2-prov 34
zebrafish
(Danio rerio)
Actinopterygii col1a2 34 35
  • 70.86 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11699 34
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 35
  • 49 (a)
OneToMany
Species where no ortholog for COL1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL1A2 Gene

ENSEMBL:
Gene Tree for COL1A2 (if available)
TreeFam:
Gene Tree for COL1A2 (if available)

Paralogs for COL1A2 Gene

genes like me logo Genes that share paralogs with COL1A2: view

Variants for COL1A2 Gene

Sequence variations from dbSNP and Humsavar for COL1A2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1800250 Osteogenesis imperfecta 3 (OI3) [MIM:259420] 94,427,801(+) TTGAG(A/C)CCCTT reference, missense
rs66507857 Osteogenesis imperfecta 2 (OI2) [MIM:166210] 94,425,777(+) ATATT(A/G/T)GTCCC reference, missense
rs66592844 Osteogenesis imperfecta 2 (OI2) [MIM:166210] 94,421,899(+) CTTAG(A/C/G)GTATG reference, missense
rs66612022 Osteogenesis imperfecta 1 (OI1) [MIM:166200] 94,409,768(+) CCCGC(A/G/T)GTATT reference, missense
rs66619856 Osteogenesis imperfecta 3 (OI3) [MIM:259420] 94,410,278(+) AGAGC(A/G/T)GTAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL1A2 Gene

Variant ID Type Subtype PubMed ID
esv2734832 CNV deletion 23290073
esv2734833 CNV deletion 23290073
nsv1023193 CNV gain 25217958
nsv464642 CNV loss 19166990
nsv607856 CNV loss 21841781

Variation tolerance for COL1A2 Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL1A2 Gene

Human Gene Mutation Database (HGMD)
COL1A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A2 Gene

Disorders for COL1A2 Gene

MalaCards: The human disease database

(39) MalaCards diseases for COL1A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
ehlers-danlos syndrome, cardiac valvular form
  • ehlers-danlos syndrome, autosomal recessive, cardiac valvular form
osteogenesis imperfecta, type ii
  • osteogenesis imperfecta type 2
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO1A2_HUMAN
  • Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. {ECO:0000269 PubMed:1577745, ECO:0000269 PubMed:2394758, ECO:0000269 PubMed:3680255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. {ECO:0000269 PubMed:16816023}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.
  • Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269 PubMed:16705691, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:1990009, ECO:0000269 PubMed:8456807, ECO:0000269 PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. {ECO:0000269 PubMed:10627137, ECO:0000269 PubMed:1284475, ECO:0000269 PubMed:1339453, ECO:0000269 PubMed:1385413, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1874719, ECO:0000269 PubMed:18996919, ECO:0000269 PubMed:2777764, ECO:0000269 PubMed:2914942, ECO:0000269 PubMed:7693712, ECO:0000269 PubMed:7891382, ECO:0000269 PubMed:7906591, ECO:0000269 PubMed:7959683, ECO:0000269 PubMed:8182080, ECO:0000269 Ref.33}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:10408781, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:1990009, ECO:0000269 PubMed:7520724, ECO:0000269 PubMed:7720740, ECO:0000269 PubMed:7749416, ECO:0000269 PubMed:7860070, ECO:0000269 PubMed:7881420, ECO:0000269 PubMed:8081394, ECO:0000269 PubMed:8444468, ECO:0000269 PubMed:8456807, ECO:0000269 PubMed:8723681, ECO:0000269 PubMed:8800927, ECO:0000269 PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. {ECO:0000269 PubMed:1642148, ECO:0000269 PubMed:16786509, ECO:0000269 PubMed:16879195, ECO:0000269 PubMed:2052622, ECO:0000269 PubMed:2064612, ECO:0000269 PubMed:2897363, ECO:0000269 PubMed:7693712, ECO:0000269 PubMed:8094076, ECO:0000269 PubMed:8401517, ECO:0000269 PubMed:8800927}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL1A2

Genetic Association Database (GAD)
COL1A2
Human Genome Epidemiology (HuGE) Navigator
COL1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL1A2
genes like me logo Genes that share disorders with COL1A2: view

No data available for Genatlas for COL1A2 Gene

Publications for COL1A2 Gene

  1. The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans. (PMID: 19559927) Joo S.P. … Kim S.H. (Surg Neurol 2009) 3 22 46 64
  2. Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. (PMID: 19426706) Lindahl K. … Ljunggren O. (Biochem. Biophys. Res. Commun. 2009) 3 22 46 64
  3. Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. (PMID: 19035720) Zhu Y. … Pang Q. (J. Neurosurg. 2008) 3 22 46 64
  4. COL1A2 gene polymorphisms (Pvu II and Rsa I), serum calciotropic hormone levels, and dental fluorosis. (PMID: 18284430) Huang H. … Zhang Y. (Community Dent Oral Epidemiol 2008) 3 22 46 64
  5. Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya. (PMID: 17620151) Martinez-Labarga C. … Rickards O. (Ann. Hum. Biol. 2007) 3 22 46 64

Products for COL1A2 Gene

Sources for COL1A2 Gene

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