Aliases for COL1A2 Gene
Aliases for COL1A2 Gene
External Ids for COL1A2 Gene
- HGNC: 2198
- Entrez Gene: 1278
- Ensembl: ENSG00000164692
- OMIM: 120160
- UniProtKB: P08123
Previous HGNC Symbols for COL1A2 Gene
- OI4
Previous GeneCards Identifiers for COL1A2 Gene
- GC07P092559
- GC07P093622
- GC07P093636
- GC07P093668
- GC07P093861
- GC07P094023
- GC07P088631
Summaries 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).
Additional gene information for COL1A2 Gene
- Monarch Initiative
- Search for COL1A2 at DataMed
- Search for COL1A2 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around COL1A2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the COL1A2 gene promoter:
-
- AP-1
- Sp1
- C/EBPbeta
- c-Jun
- ATF-2
- c-Fos
- CBF(2)
Regulatory Element Products
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)
- Size:
- 36,672 bases
- Orientation:
- Plus strand
Genomic View for COL1A2 Gene
Genes around COL1A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.3 by Entrez Gene
- 7q21.3 by HGNC
- 7q21.3 by Ensembl
COL1A2 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 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
- 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.
Protein Expression 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:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COL1A2
- Novus Biologicals Antibodies for COL1A2
-
Abcam antibodies for COL1A2
- Invitrogen Antibodies for COL1A2
- GeneTex COL1A2 Antibody for COL1A2
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL1A2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL1A2
- Origene Custom Protein Services for COL1A2
- Novus Biologicals proteins for COL1A2
- antibodies-online: Search results for 6 available COL1A2 Proteins ranked by validation data
- Compare Top COL1A2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for COL1A2
-
Abcam proteins for COL1A2
Assay Products
-
Abcam assays for COL1A2
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
Protein Domains for COL1A2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL1A2 Gene
Graphical View of Domain Structure for InterPro Entry
P08123UniProtKB/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.
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
| 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 |
Phenotypes for COL1A2 Gene
- MGI mutant phenotypes for COL1A2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for COL1A2:
Animal Models for COL1A2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL1A2
-
CRISPR Products
-
OriGene CRISPR knockouts for COL1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL1A2
- genomics-online: gRNA clones - Search results for available COL1A2 gene related products
- Applied Biological Materials CRISPR for COL1A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL1A2
- GenScript: Design CRISPR guide RNA sequences for COL1A2
miRNA for COL1A2 Gene
- miRTarBase miRNAs that target COL1A2
-
- hsa-let-7g-5p (MIRT000472)
- hsa-mir-29c-3p (MIRT001928)
- hsa-mir-6803-5p (MIRT569997)
- hsa-mir-6751-5p (MIRT569998)
- hsa-mir-7109-5p (MIRT569999)
- hsa-mir-4665-5p (MIRT570000)
- hsa-mir-1275 (MIRT570001)
- hsa-mir-569 (MIRT570002)
- hsa-mir-5010-5p (MIRT570003)
- hsa-mir-7111-5p (MIRT570004)
- hsa-mir-4525 (MIRT570005)
- hsa-mir-6870-5p (MIRT570006)
- hsa-mir-5698 (MIRT570007)
- hsa-mir-4723-5p (MIRT570008)
- hsa-mir-625-5p (MIRT570009)
- hsa-mir-939-5p (MIRT570010)
- hsa-mir-1343-5p (MIRT570011)
- hsa-mir-6780b-5p (MIRT570012)
- hsa-mir-4725-3p (MIRT570013)
- hsa-mir-4271 (MIRT570014)
- hsa-mir-6090 (MIRT570015)
- hsa-mir-4747-5p (MIRT570016)
- hsa-mir-5196-5p (MIRT570017)
- hsa-mir-4653-3p (MIRT570018)
- hsa-mir-4533 (MIRT570019)
- hsa-mir-4424 (MIRT570020)
- hsa-mir-4781-5p (MIRT570021)
- hsa-mir-26b-5p (MIRT731943)
- hsa-mir-25-3p (MIRT733741)
- hsa-mir-29a-3p (MIRT734292)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for COL1A2
- Browse OriGene Inhibitory RNA Products For COL1A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A2
- genomics-online: shRNA clones - Search results for available COL1A2 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL1A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL1A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL1A2
- genomics-online: cdna clones - Search results for available COL1A2 gene related products
- orf clones - Search results for available COL1A2 gene related products
- Applied Biological Materials Clones for COL1A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COL1A2
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (3)
| 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 | -- |
Pathways & Interactions for COL1A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Focal Adhesion |
.62
|
.62
|
| 5 | PI3K-Akt signaling pathway | ||
Pathways by source for COL1A2 Gene
11 BioSystems pathways for COL1A2 Gene
12 Reactome pathways for COL1A2 Gene
1 PharmGKB pathway for COL1A2 Gene
9 KEGG pathways for COL1A2 Gene
7 GeneGo (Thomson Reuters) pathways for COL1A2 Gene
15 Qiagen pathways for COL1A2 Gene
Interacting Proteins for COL1A2 Gene
Selected Interacting proteins:
P08123-CO1A2_HUMAN
ENSP00000297268
for COL1A2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for COL1A2
| 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 | -- |
Transcripts for COL1A2 Gene
mRNA/cDNA for COL1A2 Gene
- (1) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (892) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000297268 5411 bps (uc003ung.1)
- ENST00000488298 594 bps (uc064fky.1)
- ENST00000473573 828 bps (uc064fkz.1)
- ENST00000497316 962 bps (uc064fla.1)
- ENST00000461525 776 bps (uc064flb.1)
Unigene Clusters for COL1A2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL1A2
- genomics-online: gRNA clones - Search results for available COL1A2 gene related products
- Applied Biological Materials CRISPR for COL1A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL1A2
- GenScript: Design CRISPR guide RNA sequences for COL1A2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for COL1A2
- Browse OriGene Inhibitory RNA Products For COL1A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A2
- genomics-online: shRNA clones - Search results for available COL1A2 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL1A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL1A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL1A2
- genomics-online: cdna clones - Search results for available COL1A2 gene related products
- orf clones - Search results for available COL1A2 gene related products
- Applied Biological Materials Clones for COL1A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
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| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
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| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
Expression for COL1A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Fusing Suture Cells Rostral Sutures
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Prechondrocytic Mesenchymal Cells Lateral Neural Arch
- Endochondral Osteoblasts Rostral Endochondral Facial Bones
- Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
-
Cartilage (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Prechondrocytic Mesenchymal Cells Lateral Neural Arch
- Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
- Prechondrocytic Mesenchymal Cells Central Neural Arch
-
Limb (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Central Intermediate Lamina Cells Zeugopod Synovial Joint
- Prechondrocytic Mesenchymal Cells Stylopod
- Prechondrocytic Mesenchymal Cells Zeugopod
- Central Intermediate Lamina Cells Stylopod Synovial Joint
-
Tendon & Ligament (Muscoskeletal System)
- Tenocytes Limb Tendons and Ligaments
- Early Tenocyte Cells Axial Tendon Primordia
- Tenocytes Axial Tendons and Ligamnets
- Early Tenocyte Cells Limb Tendon Primordia
-
Dermis (Integumentary System)
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL1A2 Gene:
COL1A2SOURCE GeneReport for Unigene cluster for COL1A2 Gene:
Hs.489142mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for COL1A2
-
OriGene qPCR primer pairs for COL1A2
- genomics-online: primer clones - Search results for available COL1A2 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for COL1A2 Gene
Orthologs for COL1A2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL1A2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL1A2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL1A2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Col1a2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Col1a2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL1A2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COL1A2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL1A2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COL1A2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col1a2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | col1a2-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col1a2 34 33 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11699 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cg25C 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 34 |
|
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
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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A2 Gene
Disorders for COL1A2 Gene
(41) MalaCards diseases for COL1A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteogenesis imperfecta, type iii |
|
|
| osteogenesis imperfecta, type iv |
|
|
| osteogenesis imperfecta, type ii |
|
|
| ehlers-danlos syndrome, cardiac valvular type |
|
|
| osteoporosis |
|
Search COL1A2 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for COL1A2 Gene
Publications for COL1A2 Gene
- 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
- 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
- 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
- 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
- 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
Products for COL1A2 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for COL1A2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL1A2
- Origene Custom Protein Services for COL1A2
- Origene sirna, shrna, and RNAi products in human, mouse, rat for COL1A2
- Browse OriGene Inhibitory RNA Products For COL1A2
- OriGene qPCR primer pairs and template standards for COL1A2
- OriGene qPCR primer pairs for COL1A2
- OriGene CRISPR knockouts for COL1A2
- OriGene ORF clones in human for COL1A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL1A2
- GenScript: Next-day shipping of latest version cDNA ORF clones for COL1A2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for COL1A2
- GenScript Custom Assay Services for COL1A2
- GenScript Custom overexpressing Cell Line Services for COL1A2
- GenScript: Design CRISPR guide RNA sequences for COL1A2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Browse Sino Biological cDNA Clones
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- Browse Sino Biological Cell Lysates
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- 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 COL1A2
- Novus Biologicals proteins for COL1A2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for COL1A2
- Abcam proteins for COL1A2
- Abcam assays for COL1A2
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- VectorBuilder custom plasmid, inducible vectors for COL1A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL1A2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 100 available COL1A2 Antibodies ranked by validation data
- Compare Top COL1A2 Antibodies
- antibodies-online: Search results for 63 available COL1A2 Elisa Kits ranked by validation data
- Compare Top COL1A2 Elisa Kits
- antibodies-online: Search results for 6 available COL1A2 Proteins ranked by validation data
- Compare Top COL1A2 Proteins
- Quality Products:
- GeneTex COL1A2 Antibody for COL1A2
- Search GeneTex for Proteins for COL1A2
- Santa Cruz Biotechnology (SCBT) Antibodies for COL1A2
- Search Santa Cruz Biotechnology (SCBT) for COL1A2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL1A2
- Horizon Cell Lines for COL1A2
- genomics-online: cdna clones - Search results for available COL1A2 gene related products
- orf clones - Search results for available COL1A2 gene related products
- genomics-online: gRNA clones - Search results for available COL1A2 gene related products
- genomics-online: primer clones - Search results for available COL1A2 gene related products
- genomics-online: shRNA clones - Search results for available COL1A2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL1A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL1A2
- GeneCopoeia miRNA 3'UTR Target clone products for COL1A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A2
Sources for COL1A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt