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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-Da... See more...
Aliases for COL1A2 Gene
Aliases for COL1A2 Gene
- Collagen Type I Alpha 2 Chain 2 3 5
- Collagen Of Skin, Tendon And Bone, Alpha-2 Chain 2 3
- Collagen I, Alpha-2 Polypeptide 2 3
- Collagen, Type I, Alpha 2 2 3
- Collagen Alpha-2(I) Chain 3 4
- Alpha-2 Type I Collagen 3 4
- Alpha 2(I)-Collagen 2 3
- Type I Procollagen 2 3
- Epididymis Secretory Sperm Binding Protein 3
External Ids for COL1A2 Gene
- HGNC: 2198
- NCBI Entrez Gene: 1278
- Ensembl: ENSG00000164692
- OMIM®: 120160
- UniProtKB/Swiss-Prot: 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 Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein binding, bridging. An important paralog of this gene is COL5A2.
UniProtKB/Swiss-Prot Summary for COL1A2 Gene
-
Type I collagen is a member of group I collagen (fibrillar forming collagen).
Additional gene information for COL1A2 Gene
- HGNC (2198)
- NCBI Entrez Gene (1278)
- Ensembl (ENSG00000164692)
- OMIM® (120160)
- UniProtKB/Swiss-Prot (P08123)
- Open Targets Platform(ENSG00000164692)
- Monarch Initiative
- Alliance of Genome Resources
- Search for COL1A2 at DataMed
- Search for COL1A2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL1A2 Gene
Genomics for COL1A2 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL1A2
- Top Transcription factor binding sites by QIAGEN in the COL1A2 gene promoter:
-
- AP-1
- ATF-2
- c-Fos
- c-Jun
- C/EBPbeta
- CBF(2)
- Sp1
Genomic Locations for COL1A2 Gene
Latest Assembly
- chr7:94,394,895-94,431,227
- (GRCh38/hg38)
- Size:
- 36,333 bases
- Orientation:
- Plus strand
Previous Assembly
- chr7:94,024,207-94,060,539
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 36,333 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 HGNC
- 7q21.3 by Entrez Gene
- 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
Other Protein References for COL1A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences COL1A2 / Collagen I Alpha 2 Antibody (LS-B8536) and COL1A2 / Collagen I Alpha 2 Antibody (LS-B13885)
- G Biosciences Immunotag™ Collagen I a2 Antibody and Immunotag™ Collagen I Antibody
-
SouthernBiotech
- Mouse Anti-Human Type I Collagen-UNLB (1441-01)
- Goat Anti-Type I Collagen-UNLB
- Mouse Anti-Human Type I Collagen-FITC
- Mouse Anti-Human Type I Collagen-UNLB (1440-01)
- Mouse Anti-Human Type I Collagen-BIOT
- Goat Anti-Type I Collagen-BIOT
- Mouse Anti-Human Type I Collagen-HRP
- Goat Anti-Type I Collagen-FITC
- Goat Anti-Type I Collagen-AF488
- NSJ Bioreagents Collagen I Antibody / COL1A2 (Rabbit Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for COL1A2
- Novus Biologicals Antibodies for COL1A2
-
Abcam antibodies for COL1A2
- Invitrogen Antibodies for COL1A2 (AFLGC-COL1A2)
- antibodies-online: Show 69 available COL1A2 Antibodies ranked by validation data
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL1A2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL1A2
- Origene Custom Protein Services for COL1A2
- Novus Biologicals proteins for COL1A2
-
Abcam proteins for COL1A2
Assay products for research
- G Biosciences Immunotag™ Human COL1a2 (Collagen Type I Alpha 2) ELISA
- Novus Biologicals ELISA Kits for COL1A2
-
Boster Bio ELISA Kits for COL1A2
-
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
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- Fibrillar collagen, C-terminal
Suggested Antigen Peptide Sequences for COL1A2 Gene
- GenScript: Design optimal peptide antigens:
-
- Collagen type I alpha 2 (A2TIK1_HUMAN)
- Alpha-2 type I collagen (CO1A2_HUMAN)
- Alpha-2 type I collagen (Q14036_HUMAN)
- Alpha 2 type I procollagen (Q16033_HUMAN)
- Mutant collagen alpha 2(I) chain CB peptide alpha 2CB4 (Q16452_HUMAN)
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 | IEA,NAS | 8982144 |
| GO:0005515 | protein binding | IPI | 18375391 |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
| GO:0030674 | protein binding, bridging | IMP | 18375391 |
Phenotypes for COL1A2 Gene
- MGI mutant phenotypes for COL1A2:
-
inferred from 4 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- hematopoietic system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for COL1A2:
Animal Models for COL1A2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for COL1A2 - Starting at $85 >
- * COL1A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for COL1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL1A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL1A2
miRNA for COL1A2 Gene
- miRTarBase miRNAs that target COL1A2
-
- hsa-let-7g-5p (MIRT000472)
- hsa-miR-29c-3p (MIRT001928)
- mmu-miR-29a-3p (MIRT003676)
- mmu-miR-29b-3p (MIRT003679)
- 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)
- mmu-let-7i-5p (MIRT731504)
- hsa-miR-26b-5p (MIRT731943)
- mmu-let-7e-5p (MIRT732894)
- mmu-miR-29b-1-5p (MIRT732927)
- hsa-miR-25-3p (MIRT733741)
- hsa-miR-29a-3p (MIRT734292)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for COL1A2 - Starting at $45 >
- * COL1A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for COL1A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL1A2
Cell Lines for research
-
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 | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | HDA,TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005584 | collagen type I trimer | IBA,TAS | 6267597 |
| GO:0005615 | extracellular space | IEA,IDA | 18375391 |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
Pathways & Interactions for COL1A2 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 |
.61
|
.61
|
| 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
11 KEGG pathways for COL1A2 Gene
7 GeneGo (Thomson Reuters) pathways for COL1A2 Gene
- Cell adhesion Integrin inside-out signaling
- Cell adhesion Integrin-mediated cell adhesion and migration
- Cell adhesion_ECM remodeling
- Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
- Cytoskeleton remodeling Integrin outside-in signaling
15 Qiagen pathways for COL1A2 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL1A2 Gene
Selected Interacting proteins:
ENSP00000297268
P08123-CO1A2_HUMAN
for COL1A2 Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for COL1A2
SIGNOR curated interactions for COL1A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IMP | 8841196 |
| GO:0001568 | blood vessel development | IMP | 17211858 |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA | 17217948 |
| GO:0007266 | Rho protein signal transduction | IDA | 17217948 |
| GO:0007596 | blood coagulation | TAS | -- |
Drugs & Compounds for COL1A2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- SouthernBiotech Human Type I Collagen-Solution
Transcripts for COL1A2 Gene
mRNA/cDNA for COL1A2 Gene
- 1 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000297268 5072 nts (view in UCSC)
- ENST00000461525 776 nts (view in UCSC)
- ENST00000464916 1123 nts (view in UCSC)
- ENST00000467931 713 nts (view in UCSC)
- ENST00000469732 656 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for COL1A2 - Starting at $85 >
- * COL1A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for COL1A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL1A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL1A2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for COL1A2 - Starting at $45 >
- * COL1A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for COL1A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL1A2
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | ^ | 35 | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ | 41a | · | 41b | · | 41c | ^ | 42 | ^ | 43a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 43b | ^ | 44a | · | 44b | ^ | 45a | · | 45b | · | 45c | ^ | 46a | · | 46b | · | 46c | · | 46d | ^ | 47a | · | 47b | ^ | 48a | · | 48b | · | 48c | ^ | 49 | ^ | 50 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||
| SP13: |
Relevant External Links for COL1A2 Gene
- GeneLoc Exon Structure for
- COL1A2
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL1A2
SOURCE 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
- Skin(4.9)
- Bone(4.9)
- Eye(4.8)
- Pancreas(4.7)
- Lung(4.6)
- Liver(4.6)
- Nervous system(4.2)
- Intestine(4.1)
- Heart(3.7)
- Muscle(3.6)
- Kidney(3.5)
- Stomach(3.4)
- Thyroid gland(3)
- Gall bladder(2.9)
- Lymph node(2.7)
- Spleen(2.6)
- Blood(2.6)
- Adrenal gland(2.3)
- Bone marrow(2.2)
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 for research
-
OriGene qPCR primer pairs for COL1A2
-
OriGene qPCR primer pairs and template standards for COL1A2
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | COL1A2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | COL1A2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Col1a2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Col1a2 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | COL1A2 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | COL1A2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | COL1A2 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | COL1A2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col1a2 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | col1a2-prov 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | col1a2 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11699 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cg25C 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 30 |
|
OneToMany |
- Species where no ortholog for COL1A2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for COL1A2
Paralogs for COL1A2 Gene
Paralogs for COL1A2 Gene
- COL5A2 5
- COL3A1 5
- COL2A1 5
- COL1A1 5
- COL5A3 5
- COL4A1 5
- COL4A5 5
- COL5A1 5
- COL11A1 5
- COL4A2 5
- COL11A2 5
- COL27A1 5
- COL16A1 5
- COL4A6 5
- COL7A1 5
- COL24A1 5
- COL22A1 5
- COL4A4 5
- COL18A1 5
- COL4A3 5
- COL15A1 5
- COL28A1 5
- COL9A1 5
- COL9A3 5
- COL9A2 5
- COL17A1 5
- COL13A1 5
- COL21A1 5
- COL25A1 5
- COL6A1 5
- COL20A1 5
- COL6A2 5
- COL23A1 5
- EMID1 5
- COLQ 5
- COL26A1 5
- EDA 5
(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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL1A2 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000701 | Uncertain Significance: Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 94,399,058(+) |
G/A NM_000089.4(COL1A2):c.106G>A (p.Gly36Arg) |
MISSENSE | |
| 1002228 | Uncertain Significance: Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 94,427,629(+) |
C/CCCCCCTGGT NM_000089.4(COL1A2):c.3279_3287dup (p.1091PPG[5]) |
INFRAME_INSERTION | |
| 1003125 | Uncertain Significance: Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 94,412,591(+) |
C/T NM_000089.4(COL1A2):c.1412C>T (p.Pro471Leu) |
MISSENSE | |
| 1003772 | Uncertain Significance: Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 94,404,842(+) |
C/T NM_000089.4(COL1A2):c.382C>T (p.Pro128Ser) |
MISSENSE | |
| 1006257 | Uncertain Significance: Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I | 94,405,229(+) |
G/A NM_000089.4(COL1A2):c.463G>A (p.Glu155Lys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL1A2 Gene
Disorders for COL1A2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteogenesis imperfecta, type iii |
|
|
| osteogenesis imperfecta, type iv |
|
|
| osteogenesis imperfecta, type ii |
|
|
| ehlers-danlos syndrome, cardiac valvular type |
|
|
| ehlers-danlos syndrome, arthrochalasia type, 2 |
|
Search COL1A2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO1A2_HUMAN- Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2) [MIM:617821]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. {ECO:0000269 PubMed:1577745, ECO:0000269 PubMed:2394758, ECO:0000269 PubMed:3680255}. Note=The disease is caused by variants 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 variants 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 variants affecting the gene represented in this entry.
- Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) [MIM:225320]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. {ECO:0000269 PubMed:16816023}. Note=The disease is caused by variants 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 variants 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 variants 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
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for COL1A2 Gene
Publications for COL1A2 Gene
- Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. (PMID: 16816023) Malfait F … De Paepe A (Journal of medical genetics 2006) 3 4 22 72
- 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. (PMID: 15077201) Schwarze U … Byers PH (American journal of human genetics 2004) 3 4 22 72
- Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (PMID: 2052622) Spotila LD … Prockop DJ (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 22 72
- 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. (PMID: 2897363) Wenstrup RJ … Byers PH (The Journal of biological chemistry 1988) 2 3 4 72
- COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. (PMID: 21344539) Lindahl K … Marini JC (Human mutation 2011) 3 4 72
ExternalLinks
Products for COL1A2 Gene
- 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 shrna, sirna, and RNAi products in human, mouse, rat for COL1A2
- Browse OriGene Inhibitory RNA Products For COL1A2
- OriGene qPCR primer pairs for COL1A2
- OriGene qPCR primer pairs and template standards for COL1A2
- OriGene CRISPR knockouts for COL1A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL1A2
- Sino Biological Human cDNA Clone for COL1A2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 ELISA Kits for COL1A2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for COL1A2
- Abcam proteins for COL1A2
- Abcam assays for COL1A2
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for COL1A2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for COL1A2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for COL1A2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for COL1A2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for COL1A2
- antibodies-online: Show 69 available COL1A2 Antibodies ranked by validation data
- antibodies-online: Show 78 available COL1A2 Elisa Kits ranked by validation data
- Compare Top COL1A2 Elisa Kits
- Quality Products:
- antibodies-online: Show 10 available COL1A2 Proteins ranked by validation data
- Compare Top COL1A2 Proteins
- Quality Products:
- 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
- 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
- Search GeneCopoeia for 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) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
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- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
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- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
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- (123) The Signaling Pathways Project (SPP)
- (124) IID
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- (126) SNPedia
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- (128) CIViC
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- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
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- (175) MirGeneDB
- (176) Alliance of Genome Resources