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This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strud... See more...
Aliases for COL2A1 Gene
Aliases for COL2A1 Gene
- Collagen Type II Alpha 1 Chain 2 3 5
- Arthroophthalmopathy, Progressive (Stickler Syndrome) 2 3
- Collagen Alpha-1(II) Chain 3 4
- Collagen, Type II, Alpha 1 2 3
- Alpha-1 Type II Collagen 3 4
- Collagen, Type II, Alpha 1 (Primary Osteoarthritis, Spondyloepiphyseal Dysplasia, Congenital) 2
- Collagen II, Alpha-1 Polypeptide 3
External Ids for COL2A1 Gene
- HGNC: 2200
- Entrez Gene: 1280
- Ensembl: ENSG00000139219
- OMIM: 120140
- UniProtKB: P02458
Previous HGNC Symbols for COL2A1 Gene
- SEDC
- AOM
Previous GeneCards Identifiers for COL2A1 Gene
- GC12M048379
- GC12M048266
- GC12M048083
- GC12M046653
- GC12M045398
- GC12M048366
Summaries for COL2A1 Gene
-
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL2A1 Gene
COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Spondyloepimetaphyseal Dysplasia, Strudwick Type. Among its related pathways are ERK Signaling and Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL1A1.
UniProtKB/Swiss-Prot Summary for COL2A1 Gene
-
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
Additional gene information for COL2A1 Gene
- Monarch Initiative
- Search for COL2A1 at DataMed
- Search for COL2A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL2A1 Gene
Genomics for COL2A1 Gene
GeneHancer (GH) Regulatory Elements for COL2A1 Gene
Promoters and enhancers for COL2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around COL2A1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL2A1
- Top Transcription factor binding sites by QIAGEN in the COL2A1 gene promoter:
-
- FOXI1
- HFH-3
- Lmo2
- Pax-3
- PPAR-alpha
- SRF
- SRF (504 AA)
- STAT1
- TBP
Genomic Locations for COL2A1 Gene
Genomic Locations for COL2A1 Gene
- chr12:47,972,965-48,025,286
- (GRCh38/hg38)
- Size:
- 52,322 bases
- Orientation:
- Minus strand
- chr12:48,366,748-48,398,285
- (GRCh37/hg19)
- Size:
- 31,538 bases
- Orientation:
- Minus strand
Genomic View for COL2A1 Gene
Genes around COL2A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.11 by HGNC
- 12q13.11 by Entrez Gene
- 12q13.11 by Ensembl
COL2A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL2A1 Gene
Proteins for COL2A1 Gene
-
Protein details for COL2A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P02458-CO2A1_HUMAN
- Recommended name:
- Collagen alpha-1(II) chain
- Protein Accession:
- P02458
- A6NGA0
- Q12985
- Q14009
- Q14044
- Q14045
- Q14046
- Q14047
- Q14056
- Q14058
- Q16672
- Q1JQ82
- Q2V4X7
- Q6LBY1
- Q6LBY2
- Q6LBY3
- Q96IT5
- Q99227
- Q9UE38
- Q9UE39
- Q9UE40
- Q9UE41
- Q9UE42
- Q9UE43
Protein attributes for COL2A1 Gene
- Size:
- 1487 amino acids
- Molecular mass:
- 141785 Da
- Quaternary structure:
-
- Homotrimers of alpha 1(II) chains.
- SequenceCaution:
-
- Sequence=AAH07252.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for COL2A1 Gene
Protein Expression for COL2A1 Gene
Post-translational modifications for COL2A1 Gene
- The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2.
- Contains mostly 4-hydroxyproline. Prolines at the third position of the tripeptide repeating unit (G-X-P) are 4-hydroxylated in some or all of the chains.
- Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.
- Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.
- O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide.
-
Glycosylation at Lys190, Asn1388, Lys287, Lys299, Lys308, Lys374, Lys608, Lys620, and Lys1130
- NX_P02458 (NX_P02458-2)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- CO2A1_HUMAN (1126)
Other Protein References for COL2A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- SouthernBiotech Goat Anti-Type II Collagen-BIOT, Goat Anti-Type II Collagen-UNLB, and Goat Anti-Type II Collagen-AF488
- Creative Diagnostics Anti-Collagen Type II polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for COL2A1
- Novus Biologicals Antibodies for COL2A1
-
Abcam antibodies for COL2A1
- Invitrogen Antibodies for COL2A1 (AFLGC-COL2A1)
- antibodies-online: Show 35 available COL2A1 Antibodies ranked by validation data
- Compare Top COL2A1 Antibodies
-
Recommended
- 63 WB Antibodies (anti-human)
- 13 IF (cc) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 RIA Antibody (anti-human)
- 36 WB Antibodies (anti-mouse)
- 13 IF (cc) Antibodies (anti-mouse)
- 2 RIA Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 27 WB Antibodies (anti-rat)
- 13 IF (cc) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 RIA Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL2A1
Protein Products
-
OriGene Purified Proteins for COL2A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL2A1
- Origene Custom Protein Services for COL2A1
- Novus Biologicals proteins for COL2A1
- Sino Biological Recombinant Proteins for COL2A1
- Sino Biological Cell Lysates for COL2A1
-
Signalway Proteins for COL2A1
-
Abcam proteins for COL2A1
Assay Products
- Novus Biologicals ELISA Kits for COL2A1
- antibodies-online: Show 49 available COL2A1 Elisa Kits ranked by validation data
- Compare Top COL2A1 Elisa Kits
-
Quality Products:
- ABIN1114251
- ABIN831832
- ABIN415267
- ABIN5520222
- ABIN5596269
- ABIN5668418
- ABIN1569087
- ABIN5591842
- ABIN509880
- ABIN5653112
- ABIN831833
- ABIN772902
- ABIN5674675
- ABIN6254325
- ABIN6202939
- ABIN2076006
- ABIN454773
- ABIN1884399
- ABIN433478
- ABIN5520223
- ABIN1569088
- ABIN5591843
- ABIN771586
- ABIN579126
- ABIN5653113
- ABIN2543153
- ABIN4968186
- ABIN1052255
- ABIN1127402
No data available for DME Specific Peptides for COL2A1 Gene
Domains & Families for COL2A1 Gene
Gene Families for COL2A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted secreted proteins
Protein Domains for COL2A1 Gene
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- Fibrillar collagen, C-terminal
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL2A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Alpha-1 type II collagen (CO2A1_HUMAN)
- Pro-alpha 1(II) collagen (Q16561_HUMAN)
- Alpha-1 collagen type II (Q2V4X9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P02458UniProtKB/Swiss-Prot:
CO2A1_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).
- Family:
-
- Belongs to the fibrillar collagen family.
Function for COL2A1 Gene
Molecular function for COL2A1 Gene
- UniProtKB/Swiss-Prot Function:
- Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
- GENATLAS Biochemistry:
- collagen type II,alpha 1,fibril forming,chondrocalcin included,expressed in hyaline cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear
Phenotypes From GWAS Catalog for COL2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 27559042 |
| GO:0042289 | MHC class II protein binding | IPI | 9354468 |
| GO:0042802 | identical protein binding | NAS | 2587267 |
Phenotypes for COL2A1 Gene
- MGI mutant phenotypes for COL2A1:
-
inferred from 13 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for COL2A1:
Animal Models for COL2A1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL2A1 - Select products 50% OFF >
- * COL2A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL2A1
- genomics-online: gRNA clones - Search for available COL2A1 gRNA products
- Overview of 129 available COL2A1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL2A1
miRNA for COL2A1 Gene
- miRTarBase miRNAs that target COL2A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL2A1
- Browse OriGene Inhibitory RNA Products For COL2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL2A1
- genomics-online: shRNA clones - Search for available COL2A1 shRNA products
- Overview of 129 available COL2A1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for COL2A1 - Select products 50% OFF >
- * COL2A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for COL2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL2A1
Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for COL2A1
-
Horizon Cell Lines for COL2A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL2A1 Gene
Localization for COL2A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL2A1 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,HDA | -- |
| GO:0005581 | collagen trimer | IBA | 21873635 |
| GO:0005585 | collagen type II trimer | IDA | 8660302 |
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005615 | extracellular space | IBA,IMP | 20603131 |
Pathways & Interactions for COL2A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
| 2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Focal Adhesion |
.62
|
.62
|
| 5 | PI3K-Akt signaling pathway | ||
Pathways by source for COL2A1 Gene
5 BioSystems pathways for COL2A1 Gene
5 Reactome pathways for COL2A1 Gene
5 KEGG pathways for COL2A1 Gene
4 GeneGo (Thomson Reuters) pathways for COL2A1 Gene
- Cell adhesion Integrin inside-out signaling
- Cell adhesion Integrin-mediated cell adhesion and migration
- Cell adhesion_ECM remodeling
- Cytoskeleton remodeling Integrin outside-in signaling
2 R&D Systems pathways for COL2A1 Gene
15 Qiagen pathways for COL2A1 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL2A1 Gene
Selected Interacting proteins:
P02458-CO2A1_HUMAN
ENSP00000369889
for COL2A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for COL2A1
SIGNOR curated interactions for COL2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IMP | 1429602 |
| GO:0001502 | cartilage condensation | IEA | -- |
| GO:0001503 | ossification | IEA | -- |
| GO:0001894 | tissue homeostasis | IEA | -- |
| GO:0001958 | endochondral ossification | IEA | -- |
Drugs & Compounds for COL2A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Collagenase | Approved, Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for COL2A1 Gene
mRNA/cDNA for COL2A1 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000337299 4442 bps (ENST00000337299.7)
- ENST00000380518 5059 bps (ENST00000380518.8)
- ENST00000465743 546 bps (ENST00000465743.2)
- ENST00000466884 478 bps (ENST00000466884.1)
- ENST00000474996 760 bps (ENST00000474996.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL2A1 - Select products 50% OFF >
- * COL2A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL2A1
- genomics-online: gRNA clones - Search for available COL2A1 gRNA products
- Overview of 129 available COL2A1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL2A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL2A1
- Browse OriGene Inhibitory RNA Products For COL2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL2A1
- genomics-online: shRNA clones - Search for available COL2A1 shRNA products
- Overview of 129 available COL2A1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for COL2A1 - Select products 50% OFF >
- * COL2A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for COL2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL2A1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - |
| ExUns: | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 50 | ^ | 51 |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: | |||
| SP5: |
Relevant External Links for COL2A1 Gene
- GeneLoc Exon Structure for
- COL2A1
Expression for COL2A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Hypertrophic Chondrocytes Vertebrae
- Mesenchymal Condensate Cells Autopod
- Chondrocytes Rostral Synchondroses
- Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Hypertrophic Chondrocytes Vertebrae
- Mesenchymal Condensate Cells Autopod
- Chondrocytes Rostral Synchondroses
- Chondrocytes Vertebrae
- NULL (Uncategorized)
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
- Autopod
- Stylopod Synovial Joint
-
Head Mesenchyme (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 1
- Chondrocytes Branchial Arch 2
- Head Mesenchyme
-
Eye (Sensory Organs)
- Limbal Basal Epithelial Cells Limbus Epithelium
- Optic Vesicle
-
Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
- Notochord
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
-
Lung (Respiratory System)
- Chondrocytes Tracheal Cartilage
-
Epithelial Cells
- Limbal Basal Epithelial Cells Limbus Epithelium
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Ectoderm (Gastrulation Derivatives)
- Neural Ectoderm (Nervous System)
- Mesoderm (Gastrulation Derivatives)
- Neural Tube (Nervous System)
- Adipose (Muscoskeletal System)
- Nose (Sensory Organs)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for COL2A1 Gene
This gene is overexpressed in Stomach (x20.7), Pituitary (x15.8), and Testis (x5.9).
This gene is overexpressed in Vitreous humor (25.0), Breast (11.1), Plasma (9.5), and Fetal Liver (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL2A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL2A1
SOURCE GeneReport for Unigene cluster for COL2A1 Gene:
Hs.408182mRNA Expression by UniProt/SwissProt for COL2A1 Gene:
P02458-CO2A1_HUMAN
Tissue specificity:
Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
Evidence on tissue expression from TISSUES for COL2A1 Gene
- Bone(4.8)
- Blood(4.3)
- Muscle(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL2A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- inner ear
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- skull
- tongue
- tooth
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- abdominal wall
- intestine
- kidney
- liver
Pelvis:
- pelvis
- placenta
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- lymph vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL2A1
- genomics-online: primer clones - Search for available COL2A1 Primer products
- Overview of 129 available COL2A1 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for COL2A1 Gene
Orthologs for COL2A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL2A1 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COL2A1 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL2A1 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL2A1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Col2a1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Col2a1 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL2A1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL2A1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COL2A1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col2a1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col2a1b 31 |
|
OneToMany | |
| col2a1a 31 30 |
|
OneToMany | |||
| Dr.27172 30 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cg25C 31 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 31 |
|
OneToMany |
- Species where no ortholog for COL2A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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 COL2A1 Gene
- ENSEMBL:
- Gene Tree for COL2A1 (if available)
- TreeFam:
- Gene Tree for COL2A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL2A1: view image
Paralogs for COL2A1 Gene
Paralogs for COL2A1 Gene
- COL1A1 5
- COL5A2 5
- COL3A1 5
- COL5A1 5
- COL11A1 5
- COL11A2 5
- COL1A2 5
- COL5A3 5
- COL4A5 5
- COL4A1 5
- COL4A6 5
- COL4A4 5
- COL27A1 5
- COL7A1 5
- COL4A3 5
- COL4A2 5
- COL24A1 5
- COL22A1 5
- COL18A1 5
- COL16A1 5
- COL17A1 5
- COL15A1 5
- COL28A1 5
- COL9A3 5
- COL9A1 5
- COL9A2 5
- COL21A1 5
- COL13A1 5
- COL25A1 5
- COL6A1 5
- COL20A1 5
- COL6A2 5
- COL23A1 5
- COLQ 5
- EMID1 5
- COL26A1 5
- EDA 5
(13) SIMAP similar genes for COL2A1 Gene using alignment to 4 proteins:
- CO2A1_HUMAN
- L8EBB9_HUMAN
- Q16561_HUMAN
- Q2V4X9_HUMAN
Variants for COL2A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL2A1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 17376 | Pathogenic: Kniest dysplasia | 47,985,907(-) | C/T | INTRON_VARIANT | |
| 17382 | Pathogenic: Stickler syndrome type 1 | 47,985,727(-) | C/T | SPLICE_DONOR_VARIANT | |
| 17390 | Pathogenic: Platyspondylic lethal skeletal dysplasia Torrance type | 47,973,454(-) | GCCCT/G | FRAMESHIFT_VARIANT | |
| 17398 | Pathogenic: Stickler syndrome type 1 | 47,995,310(-) | T/C | SPLICE_ACCEPTOR_VARIANT | |
| 17399 | Pathogenic: Stickler syndrome, type I, nonsyndromic ocular | 47,975,315(-) | A/G | SPLICE_DONOR_VARIANT |
Residual Variation Intolerance Score:
2.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.95;
87.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL2A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL2A1 Gene
Disorders for COL2A1 Gene
(107) MalaCards diseases for COL2A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kniest dysplasia |
|
|
| spondyloepimetaphyseal dysplasia, strudwick type |
|
|
| achondrogenesis, type ii |
|
|
| legg-calve-perthes disease |
|
|
| platyspondylic lethal skeletal dysplasia, torrance type |
|
Search COL2A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO2A1_HUMAN- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. {ECO:0000269 PubMed:10678662, ECO:0000269 PubMed:11746045, ECO:0000269 PubMed:2339128, ECO:0000269 PubMed:2543071, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8019561, ECO:0000269 PubMed:8325895, ECO:0000269 PubMed:8423604}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583]: An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. {ECO:0000269 PubMed:26183434}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]: A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. {ECO:0000269 PubMed:16088915, ECO:0000269 PubMed:7550321, ECO:0000269 Ref.39}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Achondrogenesis 2 (ACG2) [MIM:200610]: An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:10797431, ECO:0000269 PubMed:15054848, ECO:0000269 PubMed:17994563, ECO:0000269 PubMed:2572591, ECO:0000269 PubMed:7757081, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:7829510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Legg-Calve-Perthes disease (LCPD) [MIM:150600]: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. {ECO:0000269 PubMed:17394019}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Kniest dysplasia (KD) [MIM:156550]: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. {ECO:0000269 PubMed:7874117, ECO:0000269 PubMed:8863156}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant. {ECO:0000269 PubMed:15930420, ECO:0000269 PubMed:21671384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Osteoarthritis with mild chondrodysplasia (OSCDP) [MIM:604864]: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. {ECO:0000269 PubMed:1975693, ECO:0000269 PubMed:1985108, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8507190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. {ECO:0000269 PubMed:10745044, ECO:0000269 PubMed:14729840, ECO:0000269 PubMed:15643621}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. {ECO:0000269 PubMed:9800905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spondyloperipheral dysplasia (SPD) [MIM:271700]: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. {ECO:0000269 PubMed:15316962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Stickler syndrome 1 (STL1) [MIM:108300]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:20513134, ECO:0000269 PubMed:7977371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. {ECO:0000269 PubMed:16752401, ECO:0000269 PubMed:17721977, ECO:0000269 PubMed:8317498}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. {ECO:0000269 PubMed:11007540, ECO:0000269 PubMed:15671297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Czech dysplasia (CZECHD) [MIM:609162]: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. {ECO:0000269 PubMed:18553548, ECO:0000269 PubMed:19764028, ECO:0000269 PubMed:7757086, ECO:0000269 PubMed:8244341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for COL2A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for COL2A1 Gene
Publications for COL2A1 Gene
- A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. (PMID: 19756630) Gálvez-Rosas A … Miranda-Duarte A (Rheumatology international 2010) 3 23 41 54
- COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. (PMID: 19387081) Metlapally R … Young TL (Investigative ophthalmology & visual science 2009) 3 23 41 54
- COL2A1 gene polymorphisms and susceptibility to osteoarthritis of the hand in Finnish women. (PMID: 19019890) Hämäläinen S … Leino-Arjas P (Annals of the rheumatic diseases 2009) 3 23 41 54
- Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. (PMID: 18523590) Jamieson SE … Blackwell JM (PloS one 2008) 3 23 41 54
- Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. (PMID: 18978274) Kenet G … Hayek S (The Journal of bone and joint surgery. British volume 2008) 3 23 41 54
ExternalLinks
Products for COL2A1 Gene
- View all 6 R&D Systems COL2A1 (Collagen II) Products
- View all R&D Systems COL2A1 (Collagen II) Proteins and Enzymes
- View all 4 R&D Systems COL2A1 (Collagen II) Primary Antibodies
- View all R&D Systems COL2A1 (Collagen II) ELISAs
- Learn more about R&D Systems custom COL2A1 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for COL2A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for COL2A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL2A1
- Origene Custom Protein Services for COL2A1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL2A1
- Browse OriGene Inhibitory RNA Products For COL2A1
- OriGene qPCR primer pairs for COL2A1
- OriGene CRISPR knockouts for COL2A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL2A1
- Browse Sino Biological cDNA Clones
- Sino Biological Recombinant Proteins for COL2A1
- Sino Biological Cell Lysates for COL2A1
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for COL2A1
- Novus Biologicals proteins for COL2A1
- Novus Biologicals ELISA Kits for COL2A1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for COL2A1
- Abcam proteins for COL2A1
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- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
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- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for COL2A1
- Invitrogen Antibodies for COL2A1 (AFLGC-COL2A1)
- VectorBuilder Custom and pre-made DNA vectors for COL2A1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for COL2A1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for COL2A1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for COL2A1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for COL2A1
- Addgene plasmids for COL2A1
- antibodies-online: Show 35 available COL2A1 Antibodies ranked by validation data
- Compare Top COL2A1 Antibodies
- Recommended
- 63 WB Antibodies (anti-human)
- 13 IF (cc) Antibodies (anti-human)
- 7 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 1 RIA Antibody (anti-human)
- 36 WB Antibodies (anti-mouse)
- 13 IF (cc) Antibodies (anti-mouse)
- 2 RIA Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 27 WB Antibodies (anti-rat)
- 13 IF (cc) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 RIA Antibody (anti-rat)
- antibodies-online: Show 49 available COL2A1 Elisa Kits ranked by validation data
- Compare Top COL2A1 Elisa Kits
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- ABIN1114251
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- ABIN1569087
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- ABIN509880
- ABIN5653112
- ABIN831833
- ABIN772902
- ABIN5674675
- ABIN6254325
- ABIN6202939
- ABIN2076006
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- ABIN433478
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- ABIN1569088
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- ABIN5653113
- ABIN2543153