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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
  • EDSARTH2 3
  • EDSCV 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 Iii and Osteogenesis Imperfecta, Type Iv. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (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

Additional gene information for COL1A2 Gene

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

Genomics for COL1A2 Gene

GeneHancer (GH) Regulatory Elements for COL1A2 Gene

Promoters and enhancers for COL1A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J094389 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +0.7 704 12.4 ATF1 ARNT SIN3A RAD21 YY1 ARID2 EGR1 ZNF143 CREM ZNF654 COL1A2 COL1A2-AS1 GC07M094231 GC07P094390 GC07P094389
GH07J094366 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -25.9 -25922 4 JUND POLR2A RCOR1 CHD2 ZBTB20 COL1A2 SGCE GNG11 GC07M094231 GC07P094390 COL1A2-AS1 GC07P094145
GH07J094942 Enhancer 0.8 ENCODE 20.5 +548.0 547966 0.6 FOXA2 ZFP64 ZBTB40 ZNF213 ZNF138 ZNF202 ZNF680 ZNF654 ZBTB11 ZC3H11A RPS3AP25 CASD1 BET1 COL1A2 DYNC1I1 LOC105375403 SGCE PPP1R9A PIR34756 GC07M095019
GH07J094402 Enhancer 0.8 ENCODE dbSUPER 11.9 +20.8 20771 26.5 ZEB2 PRDM6 JUND POLR2A SCRT2 FOS RCOR1 MAFK CHD2 COL1A2 RNU6-1328P CASD1 GC07P094428 GC07P094427 COL1A2-AS1 GC07P094390
GH07J094295 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -94.3 -94281 9.6 ZSCAN4 NFXL1 ZNF48 RAD21 RARA YY1 ZNF207 ZFP91 FOS MIXL1 COL1A2 SGCE GC07M094231 GC07P094390 COL1A2-AS1 GC07P094145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL1A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL1A2 gene promoter:

Genomic Locations for COL1A2 Gene

Genomic Locations for COL1A2 Gene
chr7:94,394,561-94,431,232
(GRCh38/hg38)
Size:
36,672 bases
Orientation:
Plus strand
chr7:94,023,873-94,060,544
(GRCh37/hg19)

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 Asn1267 and Thr1138
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL1A2 Gene

Domains & Families for COL1A2 Gene

Gene Families for COL1A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

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.
  • 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.
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

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

Phenotypes From GWAS Catalog for COL1A2 Gene

Gene Ontology (GO) - Molecular Function for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 19932771
GO:0005201 extracellular matrix structural constituent NAS,IEA 8982144
GO:0005515 protein binding IPI 18375391
GO:0030674 protein binding, bridging IMP 18375391
GO:0042802 identical protein binding IDA 17211858
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A2

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL1A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IDA --
GO:0005581 collagen trimer IEA --
GO:0005584 collagen type I trimer TAS 6267597
GO:0005615 extracellular space IDA,IEA 18375391
GO:0005783 endoplasmic reticulum IDA --
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

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

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

mRNA/cDNA for COL1A2 Gene

Unigene Clusters for COL1A2 Gene

Collagen, type I, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A2

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for COL1A2 Gene

  • Bone(4.9)
  • Skin(4.9)
  • Eye(4.7)
  • Pancreas(4.6)
  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(3.9)
  • Intestine(3.8)
  • Muscle(3.2)
  • Heart(3.1)
  • Kidney(3)
  • Gall bladder(2.9)
  • Stomach(2.9)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL1A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with COL1A2: view

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 33
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL1A2 34 33
  • 91.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL1A2 34 33
  • 89.96 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col1a2 33
  • 88.51 (n)
mouse
(Mus musculus)
Mammalia Col1a2 16 34 33
  • 87.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL1A2 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL1A2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL1A2 34 33
  • 80.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL1A2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col1a2 33
  • 74.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia col1a2-prov 33
zebrafish
(Danio rerio)
Actinopterygii col1a2 34 33 33
  • 70.86 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11699 33
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COL1A2: view image

Paralogs for COL1A2 Gene

(9) SIMAP similar genes for COL1A2 Gene using alignment to 7 proteins:

  • CO1A2_HUMAN
  • A2TIK1_HUMAN
  • Q14036_HUMAN
  • Q16033_HUMAN
  • Q16452_HUMAN
  • Q75N18_HUMAN
  • Q7KZ71_HUMAN
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 Variation AA Info Type
rs1057516036 likely-pathogenic, Osteogenesis imperfecta, recessive perinatal lethal 94,423,065(+) G/A coding_sequence_variant, missense_variant
rs1057516053 pathogenic, Osteogenesis imperfecta type III 94,413,129(+) G/A coding_sequence_variant, missense_variant
rs1057518967 pathogenic, Multiple prenatal fractures, Skeletal dysplasia 94,423,102(+) G/A coding_sequence_variant, missense_variant
rs1060399 benign, Osteogenesis Imperfecta, Dominant, Ehlers-Danlos syndrome, procollagen proteinase deficient 94,430,587(+) C/A/T 3_prime_UTR_variant
rs1062394 likely-benign, Ehlers-Danlos syndrome, procollagen proteinase deficient, Osteogenesis Imperfecta, Dominant 94,431,197(+) G/T 3_prime_UTR_variant

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)

Additional Variant Information 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

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

- 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.
  • 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.34}. 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.
  • 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.
  • 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.

Additional Disease Information for COL1A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for COL1A2 Gene

  1. The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans. (PMID: 19559927) Joo SP … Kim SH (Surgical neurology 2009) 3 22 44 58
  2. Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. (PMID: 19426706) Lindahl K … Ljunggren O (Biochemical and biophysical research communications 2009) 3 22 44 58
  3. COL1A2 gene polymorphisms (Pvu II and Rsa I), serum calciotropic hormone levels, and dental fluorosis. (PMID: 18284430) Huang H … Zhang Y (Community dentistry and oral epidemiology 2008) 3 22 44 58
  4. Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. (PMID: 19035720) Zhu Y … Pang Q (Journal of neurosurgery 2008) 3 22 44 58
  5. Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya. (PMID: 17620151) Martinez-Labarga C … Rickards O (Annals of human biology 2007) 3 22 44 58

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