COL1A2 Gene
protein-coding GIFtS : 71
GCID: GC07 P094023
collagen, type I, alpha 2 (Previous name: osteogenesis imperfecta type IV ) (Previous symbol: OI4 )
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Aliasesfor COL1A2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Collagen, Type I, Alpha 2 1 2 Collagen Alpha-2(I) Chain2 OI41 2 Collagen I, Alpha-2 Polypeptide2 Alpha-2 Type I Collagen2 3 Collagen Of Skin, Tendon And Bone, Alpha-2 Chain2 Osteogenesis Imperfecta Type IV1 Type I Procollagen2 Alpha 2(I)-Collagen2
Export aliases for COL1A2 gene to outside databases Previous GC identifers: GC07P092559 GC07P093622 GC07P093636 GC07P093668 GC07P093861 GC07P088631
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Summariesfor COL1A2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for COL1A2 : 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) UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123 Function : Type I collagen is a member of group I collagen (fibrillar forming collagen)Gene Wiki entry for COL1A2
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Genomic Viewsfor COL1A2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the COL1A2 gene promoter: c-Fos C/EBPbeta Sp1 AP-1 ATF-2 c-Jun CBF(2) Other transcription factors Search SABiosciences Chromatin IP Primers for COL1A2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL1A2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3 COL1A2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07P094023: view genomic region
(about GC identifiers )
Start:
94,023,873 bp from pter
End:
94,060,544 bp from pter
Size:
36,672 bases
Orientation:
plus strand
1 alternative location : Chr 7+,CRA_TCAG 93,353,052-93,389,700
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Proteinsfor COL1A2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123 (See
protein sequence )Recommended Name: Collagen alpha-2(I) chain precursor Size : 1366 amino acids; 129314 Da
Subunit : Trimers of one alpha 2(I) and two alpha 1(I) chains
Subcellular location : Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions : P02464 Q13897 Q13997 Q13998 Q14038 Q14057 Q15177 Q15947 Q16480 Q16511 Q7Z5S6Q9UEB6 Q9UEF9 Q9UM83 Q9UMI1 Q9UML5 Q9UMM6 Q9UPH0 Explore the universe of human proteins at neXtProt for COL1A2: NX_P08123 Post-translational modifications:
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P08123 COL1A2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000080.2 ENSEMBL proteins: ENSP00000297268 Reactome Protein details: P08123 Human Recombinant Protein Products: Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7 ): About this table
COL1A2 for ontologies About GeneDecksing COL1A2 Antibody Products: Assay Products for COL1A2:
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Protein
Domains / Familiesfor COL1A2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
COL1A2 for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P08123 ProtoNet protein and cluster: P08123
3 Blocks protein families : IPB000885 Fibrillar collagen IPB008160 Collagen triple helix repeat IPB008161 Collagen helix repeat UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123 Domain : The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair bycontrolling 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) Similarity : Belongs to the fibrillar collagen familySimilarity : Contains 1 fibrillar collagen NC1 domain
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Functionfor COL1A2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123 Function : Type I collagen is a member of group I collagen (fibrillar forming collagen)
Genatlas biochemistry entry for COL1A2 : collagen type I,alpha 2,fibril forming,putative down-regulated c-Myc target gene, Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: COL1A2 (NM_000089 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL1A2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
COL1A2 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for COL1A2 :Animal Models: Mouse knock-out Col1a2 tm1Mcbr for COL1A2 10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Col1a2) :
COL1A2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor COL1A2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/32 super-pathways (see all 32 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Cell adhesion_Integrin-mediated cell adhesion and migration 2 Integrin Pathway 3 Collagen formation 4 Rho Family GTPases 5 Formation of collagen fibres
Pathway sources See GeneCards unified pathways Show all pathways 5/8 EMD Millipore Pathways for COL1A2 (see all 8 )5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL1A2 (see all 15 )5/7 GeneGo (Thomson Reuters) Pathways for COL1A2 (see all 7 )5/9 BioSystems Pathways for COL1A2 (see all 9 ) 5/22
Reactome Pathways for COL1A2 (see all 22 )1 PharmGKB Pathway for COL1A2 4
Kegg Pathways (Kegg details for COL1A2) :
COL1A2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL1A2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/108 Interacting proteins for COL1A2 (P08123 2 , 3 ENSP00000297268 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 108 )About this table Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15 ): About this table
COL1A2 for ontologies About GeneDecksing
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Drugs & Compoundsfor COL1A2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
COL1A2 for compounds About GeneDecksing Browse Tocris compounds for COL1A2 1 HMDB Compound for COL1A2 About this table 1 DrugBank Compound for COL1A2 About this table 10/25 Novoseek chemical compound relationships for COL1A2 gene (see all 25 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
mspi
68.1
17
15777651 (3), 15599596 (2), 7835877 (2), 1675622 (1) (see all 10 )
procollagen
65.3
3
7916744 (1), 18266309 (1), 10073586 (1)
rsai
62.8
7
7835877 (2), 16114820 (1), 18284430 (1), 11208313 (1) (see all 5 )
nppa
58.7
2
14993121 (1), 15582321 (1)
ecori
39.4
7
7835877 (2), 1675622 (1), 16114820 (1), 11208313 (1) (see all 5 )
cyanogen bromide
38.4
1
9721184 (1)
mithramycin
36.3
1
11114293 (1)
nppb
25.8
2
14993121 (1), 15582321 (1)
cysteine
23.9
8
1990009 (2), 16786509 (1), 2066103 (1), 11359465 (1) (see all 7 )
ly294002
21.7
6
14610066 (2), 15153536 (2), 19726546 (1)
Search CenterWatch for drugs/clinical trials and news about COL1A2 / CO1A2
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Transcriptsfor COL1A2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for COL1A2 gene: NM_000089.3 Unigene Cluster for COL1A2:
Collagen, type I, alpha 2 Hs.489142 [show with all ESTs ] Unigene Representative Sequence: J03464 12 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000297268 (uc003ung.1 uc011kib.1 uc022ahm.1 uc010lfh.1 uc010lfi.1 )ENST00000488298 ENST00000473573 ENST00000497316 ENST00000461525 ENST00000467931 ENST00000481570 ENST00000469732 ENST00000478215 ENST00000488121 ENST00000492110 ENST00000464916 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: COL1A2 (NM_000089 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COL1A2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A2
Additional cDNA sequence: AK223175.1 AK226074.1 AK297786.1 AK300194.1 AK309504.1 BC042586.1 BC054498.1 J00114.1 J03464.1 L47668.1 S96821.1 V00503.1 X55525.1 Y00724.1 Z74616.1
24/73 DOTS entries (see all 73 ): DT.95171357 DT.100884035
DT.100884020 DT.95171333 DT.100884018 DT.95171203 DT.100884016 DT.97866912 DT.100884013 DT.100884027 DT.100032421 DT.100045973 DT.95171339 DT.121064706 DT.100662598 DT.121064715 DT.75178264 DT.121064825 DT.121064821 DT.95171156 DT.121064776 DT.121064787 DT.453710 DT.121642682 24/892 AceView cDNA sequences (see all 892 ):
AI383642 CD515508 BQ004440 CB215847 BM679967 BM679202 R71565 AA375995 AI755044 CN484471 BM722065 CB045026 AA343289 AI752770 BX508373 BQ183632 AA375677 CN484779 CB269181 BG057935 CA427114 BU580539 AI198930 BM722524 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2 (see all 13 ) About this scheme 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 :                             -   -   -   -   -   -   -   -   -   -   -   -  
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 : -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -   -  
ExUns: 43b ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b · 46c · 46d ^ 47a · 47b ^ 48a · 48b · 48c ^ 49 ^ 50 SP1 : -   -         -   -                       SP2 : -   -   -   -     -   -                       SP3 :                                   SP4 :                                   SP5 : -   -   -   -   -   -   -   -                    
ECgene alternative splicing isoforms for COL1A2
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Expression for COL1A2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section COL1A2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GATGAGGAGA
About this image COL1A2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See COL1A2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for COL1A2 SOURCE GeneReport for Unigene cluster: Hs.489142 UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123 Tissue specificity : Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calciumhydroxyapatite SABiosciences Expression via Pathway-Focused PCR Arrays including COL1A2 (see all 6 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for COL1A2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat COL1A2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat COL1A2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat COL1A2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2
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Orthologsfor COL1A2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for COL1A2 gene from 5/15 species (see all 15 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
COL1A21
collagen, type I, alpha 2
80.28(n) 83.81(a)
 
396243 NM_001079714.2 NP_001073182.2
lizard (Anolis carolinensis)
Reptilia
COL1A26
--
81(a)
1 ↔ 1
6(22172811-22229242)
African clawed frog (Xenopus laevis)
Amphibia
col1a2-prov2
procollagen, type I, alpha 2
79.06(n)
 
BC049287.1
zebrafish (Danio rerio)
Actinopterygii
col1a22
collagen, type I, alpha 2
77.2(n)
 
336471 AJ318213.1
honey bee (Apis mellifera)
Insecta
--
--
43(a)
1 → many
GroupUn.493(29585-38789)
ENSEMBL Gene Tree for COL1A2 (if available)TreeFam Gene Tree for COL1A2 (if available)
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Paralogsfor COL1A2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for COL1A2 gene COL4A6 2 COL19A1 2 COL11A2 2 COL4A5 2 COL24A1 2 COL4A4 2 COL5A3 2 COL1A1 2 COL16A1 2 COL4A2 2 COL5A2 2 COL5A1 2 COL4A3 2 COL22A1 2 COL7A1 2 COL27A1 2 COL3A1 2 COL2A1 2 COL4A1 2 COL11A1 2 11 SIMAP similar genes for COL1A2 using alignment to 7 protein entries: CO1A2_HUMAN (see all proteins ):COL2A1 COL1A1 COL5A2 FCN2 COL3A1 C1QTNF9 MARCO COL11A1 COL5A3 COL28A1 COL5A1
COL1A2 for paralogs About GeneDecksing
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Genomic Variantsfor COL1A2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
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Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for COL1A2 (94023873 - 94060544 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for COL1A2: -- Human Gene Mutation Database (HGMD) : COL1A2 Locus Specific Mutation Databases (LSDB): COL1A2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing COL1A2
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Disorders
/ Diseasesfor COL1A2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
COL1A2 for disorders About GeneDecksing OMIM gene information: 120160 OMIM disorders : 130060 166220 259420 166210 166710 225320 UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
Defects in COL1A2 are the cause of Ehlers-Danlos syndrome type 7B (EDS7B) [MIM:130060]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7B is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations Defects in COL1A2 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200]. A dominantly inherited connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta Defects in COL1A2 are a cause of osteogenesis imperfecta type 2 (OI2) [MIM:166210]; also known as osteogenesis imperfecta congenita (OIC) or lethal perinatal. A connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency Defects in COL1A2 are the cause of 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 Defects in COL1A2 are a cause of osteogenesis imperfecta type 3 (OI3) [MIM:259420]. A connective tissue disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta Defects in COL1A2 are a cause of osteogenesis imperfecta type 4 (OI4) [MIM:166220]; also known as osteogenesis imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta 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 20/65 diseases for COL1A2 (see all 65 ): About MalaCards osteogenesis imperfecta ehlers-danlos syndrome ehlers-danlos syndrome type viib osteogenesis imperfecta type i ehlers-danlos syndrome, cardiac valvular form marfan syndrome osteogenesis imperfecta, type ii ehlers-danlos syndrome type viia osteogenesis imperfecta type iii osteoporosis osteogenesis imperfecta type 4 silver-russell syndrome mitral valve prolapse osteoporosis, postmenopausal connective tissue disease dental fluorosis dentinogenesis imperfecta short stature intracranial aneurysm abdominal aortic aneurysm 6 diseases from the University of Copenhagen DISEASES database for COL1A2 :Osteogenesis imperfecta Ehlers-Danlos syndrome Dentinogenesis imperfecta Osteoporosis Systemic scleroderma Idiopathic juvenile osteoporosis 10/28 Novoseek disease relationships for COL1A2 gene (see all 28 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
osteogenesis imperfecta
94.5
68
1967900 (2), 1990009 (2), 15241796 (2), 10982177 (2) (see all 57 )
oi, type i
90.5
6
1967900 (1), 8456806 (1), 8096115 (1), 9443882 (1) (see all 6 )
oi, type iv
90
8
1967900 (1), 11836364 (1), 8096115 (1), 18375391 (1) (see all 8 )
osteogenesis imperfecta, type ii
88.7
5
17431984 (2), 18996919 (1), 17508636 (1)
oi, type iii
88.5
6
8100856 (2), 19208385 (1), 9240878 (1), 11359465 (1)
ehlers-danlos syndrome, type i
78
1
1684560 (1)
ehlers-danlos syndrome
77.2
15
1990839 (2), 15077201 (2), 10982177 (2), 8071956 (2) (see all 11 )
osteopenia
53.6
1
2052622 (1)
sclerosis systemic
53.3
1
10872800 (1)
otosclerosis
52.7
3
17568407 (1), 16168495 (1), 15211650 (1)
GeneTests: COL1A2 COL1A1/2-Related Osteogenesis Imperfecta Genetic Association Database (GAD): COL1A2 Human Genome Epidemiology (HuGE) Navigator: COL1A2 (39 documents) Export disorders for COL1A2 gene to outside databases
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Publicationsfor COL1A2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for COL1A2 gene, integrated from 9 sources (see all 470 ): (articles sorted by number of sources associating them with COL1A2) Utopia : connect your pdf to the dynamic world of online information
Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis. (PubMed id 12101112) 1 , 4, 7 Chiu C.J....Chen C.J. (2002) Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (PubMed id 2897363) 1 , 2 , 3 Wenstrup R.J.... Byers P.H. (1988) Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PubMed id 16705691) 1 , 2 , 9 Lee K.S....Koo S.K. (2006) Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. (PubMed id 14739420) 1 , 4, 9 Yoneyama T....Inoue I. (2004) Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796) 1 , 4, 9 Hartikka H....Ala-Kokko L. (2004) Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (PubMed id 18996919) 1 , 2 , 9 Bodian D.L....Klein T.E. (2009) Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650) 1 , 4, 9 Rodriguez L....Zapata C. (2004) Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (PubMed id 15077201) 1 , 2 , 9 Schwarze U.... Byers P.H. (2004) Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families. (PubMed id 14555266) 1 , 4, 9 Deng F.Y....Deng H.W. (2003) Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. (PubMed id 12813128) 1 , 4, 9 Suuriniemi M....Cheng S. (2003)
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External Searches for COL1A2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing COL1A2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing COL1A2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing COL1A2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for COL1A2 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for COL1A2 Genetics and Cytogenetics in Oncology and Haematology Osteogenesis imperfecta variant database http://oi.gene.le.ac.uk/home.php?select_db=COL1A2 GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A2
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About This Section Patent Information for COL1A2 gene: Search GeneIP for patents involving COL1A2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor COL1A2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for COL1A2 OriGene shRNA RFP for COL1A2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for COL1A2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for COL1A2 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for COL1A2 OriGene 3'-UTR Clone for COL1A2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for COL1A2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for COL1A2 OriGene Custom Protein Services for COL1A2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL1A2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing COL1A2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL1A2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat COL1A2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat COL1A2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat COL1A2
Search Tocris compounds for COL1A2
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2
ThermoFisher Antibodies for COL1A2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat COL1A2
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