======= COL2A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL2A1
  * **<color #00a2e8>Official Name</color>**: collagen type II alpha 1 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1280|1280]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P02458|P02458]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL2A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL2A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120140|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Collagen|
|VWC|
|COLFI|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type II trimer|
|anterior head development|
|MHC class II protein binding|
|limb bud formation|
|embryonic skeletal joint morphogenesis|
|platelet-derived growth factor binding|
|embryonic skeletal joint development|
|otic vesicle development|
|proteoglycan binding|
|cartilage condensation|
|notochord development|
|cell aggregation|
|endochondral ossification|
|replacement ossification|
|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|
|negative regulation of signal transduction in absence of ligand|
|extracellular matrix structural constituent conferring tensile strength|
|cartilage development involved in endochondral bone morphogenesis|
|regulation of extrinsic apoptotic signaling pathway in absence of ligand|
|collagen fibril organization|
|collagen trimer|
|endochondral bone morphogenesis|
|chondrocyte differentiation|
|basement membrane|
|roof of mouth development|
|proteoglycan metabolic process|
|embryonic skeletal system morphogenesis|
|inner ear morphogenesis|
|negative regulation of extrinsic apoptotic signaling pathway|
|cellular response to BMP stimulus|
|response to BMP|
|bone morphogenesis|
|ear morphogenesis|
|embryonic skeletal system development|
|extracellular matrix structural constituent|
|sensory perception of sound|
|limb morphogenesis|
|appendage morphogenesis|
|regulation of extrinsic apoptotic signaling pathway|
|sensory perception of mechanical stimulus|
|cartilage development|
|appendage development|
|limb development|
|tissue homeostasis|
|inner ear development|
|bone development|
|ear development|
|visual perception|
|connective tissue development|
|sensory perception of light stimulus|
|negative regulation of apoptotic signaling pathway|
|extracellular matrix|
|skeletal system morphogenesis|
|heart morphogenesis|
|sensory organ morphogenesis|
|ossification|
|embryonic organ morphogenesis|
|endoplasmic reticulum lumen|
|multicellular organismal homeostasis|
|extracellular matrix organization|
|anatomical structure homeostasis|
|collagen-containing extracellular matrix|
|glycoprotein metabolic process|
|extracellular structure organization|
|regulation of apoptotic signaling pathway|
|embryonic organ development|
|supramolecular fiber organization|
|skeletal system development|
|cellular response to growth factor stimulus|
|heart development|
|response to growth factor|
|sensory organ development|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|head development|
|tube development|
|circulatory system development|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|central nervous system development|
|negative regulation of cell death|
|carbohydrate derivative metabolic process|
|identical protein binding|
|epithelium development|
|regulation of immune response|
|cellular response to endogenous stimulus|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|nervous system process|
|response to endogenous stimulus|
|regulation of apoptotic process|
|regulation of programmed cell death|
|extracellular space|
|negative regulation of response to stimulus|
|homeostatic process|
|regulation of immune system process|
|regulation of cell death|
|tissue development|
|protein-containing complex subunit organization|
|extracellular region|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp17|DABN 20μM R00 exp17]]|-2.39|
|[[:results:exp93|DABN racemic mixture R03 exp93]]|-2.14|
|[[:results:exp456|Benzoate 20000μM R08 exp456]]|-2.08|
|[[:results:exp199|Etoposide 0.3μM R05 exp199]]|-1.93|
|[[:results:exp211|AICAR 240μM R05 exp211]]|-1.81|
|[[:results:exp3|Actinomycin-D 0.001μM R00 exp3]]|-1.77|
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|-1.76|
|[[:results:exp165|RO-3306 3 to 4μM on day4 R04 exp165]]|1.78|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:psma6|PSMA6]]|0.564|
|[[:human genes:p:prim1|PRIM1]]|0.551|
|[[:human genes:t:tceb3c|TCEB3C]]|0.547|
|[[:human genes:p:psmb4|PSMB4]]|0.532|
|[[:human genes:u:upf1|UPF1]]|0.527|
|[[:human genes:t:tbc1d3|TBC1D3]]|0.525|
|[[:human genes:t:ticrr|TICRR]]|0.525|
|[[:human genes:t:twistnb|TWISTNB]]|0.524|
|[[:human genes:u:utp3|UTP3]]|0.524|
|[[:human genes:t:tceb3cl|TCEB3CL]]|0.522|
|[[:human genes:t:tbc1d3f|TBC1D3F]]|0.514|
|[[:human genes:i:ik|IK]]|0.514|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.508|
|[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.502|
|[[:human genes:s:slc4a1|SLC4A1]]|0.501|
|[[:human genes:r:rrp7a|RRP7A]]|0.497|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.497|
|[[:human genes:c:chd4|CHD4]]|0.496|
|[[:human genes:r:rps7|RPS7]]|0.494|
|[[:human genes:c:cdc73|CDC73]]|0.493|
|[[:human genes:c:cactin|CACTIN]]|0.493|
|[[:human genes:p:psmb2|PSMB2]]|0.492|
|[[:human genes:z:znf830|ZNF830]]|0.492|
|[[:human genes:v:vps28|VPS28]]|0.49|
|[[:human genes:r:rpl35|RPL35]]|0.487|
|[[:human genes:r:rps2|RPS2]]|0.485|
|[[:human genes:e:exosc9|EXOSC9]]|0.484|
|[[:human genes:t:tp53tg3c|TP53TG3C]]|0.483|
|[[:human genes:t:tp53tg3b|TP53TG3B]]|0.483|
|[[:human genes:t:tp53tg3|TP53TG3]]|0.483|
|[[:human genes:p:polr2j3|POLR2J3]]|0.481|
|[[:human genes:t:tyms|TYMS]]|0.481|
|[[:human genes:k:krt78|KRT78]]|0.481|
|[[:human genes:r:rrn3|RRN3]]|0.48|
|[[:human genes:p:psmc1|PSMC1]]|0.48|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.48|
|[[:human genes:c:c14orf93|C14orf93]]|0.475|
|[[:human genes:g:golga8o|GOLGA8O]]|0.472|
|[[:human genes:o:orc6|ORC6]]|0.472|
|[[:human genes:n:npipb5|NPIPB5]]|0.472|
|[[:human genes:t:tspy1|TSPY1]]|0.469|
|[[:human genes:v:vasn|VASN]]|0.469|
|[[:human genes:p:pole|POLE]]|0.467|
|[[:human genes:p:pan3|PAN3]]|0.466|
|[[:human genes:p:pwp2|PWP2]]|0.466|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.465|
|[[:human genes:c:ccdc116|CCDC116]]|0.465|
|[[:human genes:p:psmc2|PSMC2]]|0.463|
|[[:human genes:m:mfsd12|MFSD12]]|0.463|
|[[:human genes:p:psmb3|PSMB3]]|0.461|
|[[:human genes:c:cdca5|CDCA5]]|0.46|
|[[:human genes:p:psmd11|PSMD11]]|0.459|
|[[:human genes:f:fam160a1|FAM160A1]]|0.459|
|[[:human genes:c:copg1|COPG1]]|0.458|
|[[:human genes:p:pola2|POLA2]]|0.458|
|[[:human genes:t:tbc1d3k|TBC1D3K]]|0.457|
|[[:human genes:t:tbc1d3i|TBC1D3I]]|0.457|
|[[:human genes:t:tbc1d3e|TBC1D3E]]|0.457|
|[[:human genes:t:tbc1d3l|TBC1D3L]]|0.456|
|[[:human genes:g:golga6l1|GOLGA6L1]]|0.454|
|[[:human genes:a:acsf2|ACSF2]]|0.454|
|[[:human genes:h:hap1|HAP1]]|0.452|
|[[:human genes:l:lrr1|LRR1]]|0.451|
|[[:human genes:a:aamp|AAMP]]|0.45|
|[[:human genes:c:cdh24|CDH24]]|0.45|
|[[:human genes:s:slc6a17|SLC6A17]]|0.449|
|[[:human genes:o:osbp|OSBP]]|0.448|
|[[:human genes:t:tp53tg3d|TP53TG3D]]|0.448|
|[[:human genes:n:narfl|NARFL]]|0.447|
|[[:human genes:w:wdr75|WDR75]]|0.446|
|[[:human genes:p:pan2|PAN2]]|0.444|
|[[:human genes:p:pbxip1|PBXIP1]]|0.443|
|[[:human genes:m:mki67ip|MKI67IP]]|0.442|
|[[:human genes:a:atp6v0c|ATP6V0C]]|0.442|
|[[:human genes:c:cdc45|CDC45]]|0.442|
|[[:human genes:a:akt1s1|AKT1S1]]|0.441|
|[[:human genes:p:psma7|PSMA7]]|0.44|
|[[:human genes:p:psmd14|PSMD14]]|0.44|
|[[:human genes:p:polr1a|POLR1A]]|0.44|
|[[:human genes:m:madcam1|MADCAM1]]|0.439|
|[[:human genes:c:ccna2|CCNA2]]|0.439|
|[[:human genes:a:ankle2|ANKLE2]]|0.439|
|[[:human genes:d:dnttip2|DNTTIP2]]|0.438|
|[[:human genes:p:psmc6|PSMC6]]|0.438|
|[[:human genes:c:cep192|CEP192]]|0.438|
|[[:human genes:t:timeless|TIMELESS]]|0.438|
|[[:human genes:d:dtl|DTL]]|0.437|
|[[:human genes:d:ddt|DDT]]|0.437|
|[[:human genes:c:cgb2|CGB2]]|0.436|
|[[:human genes:z:zfand5|ZFAND5]]|0.436|
|[[:human genes:a:ankle1|ANKLE1]]|0.436|
|[[:human genes:c:cbwd3|CBWD3]]|0.435|
|[[:human genes:k:kctd17|KCTD17]]|0.434|
|[[:human genes:p:pola1|POLA1]]|0.432|
|[[:human genes:g:golga6l3|GOLGA6L3]]|0.432|
|[[:human genes:c:cbwd6|CBWD6]]|0.432|
|[[:human genes:n:npipb8|NPIPB8]]|0.432|
|[[:human genes:d:dock6|DOCK6]]|0.432|
|[[:human genes:c:cope|COPE]]|0.431|
|[[:human genes:d:ddtl|DDTL]]|0.431|
|[[:human genes:c:ccdc64b|CCDC64B]]|0.429|
|[[:human genes:a:aatf|AATF]]|0.429|
|[[:human genes:d:dhx38|DHX38]]|0.428|
|[[:human genes:c:cox7a2l|COX7A2L]]|0.427|
|[[:human genes:a:akirin2|AKIRIN2]]|0.427|
|[[:human genes:m:myb|MYB]]|0.426|
|[[:human genes:a:abhd8|ABHD8]]|0.426|
|[[:human genes:t:tsg101|TSG101]]|0.425|
|[[:human genes:s:sh3bp1|SH3BP1]]|0.425|
|[[:human genes:r:rpa2|RPA2]]|0.424|
|[[:human genes:f:fam231c|FAM231C]]|0.424|
|[[:human genes:f:fam231a|FAM231A]]|0.424|
|[[:human genes:s:sap30bp|SAP30BP]]|0.424|
|[[:human genes:o:or10g3|OR10G3]]|0.424|
|[[:human genes:r:rpl9|RPL9]]|0.423|
|[[:human genes:p:polr2f|POLR2F]]|0.423|
|[[:human genes:r:rad51|RAD51]]|0.423|
|[[:human genes:p:polr2d|POLR2D]]|0.423|
|[[:human genes:r:rpl34|RPL34]]|0.423|
|[[:human genes:p:psmb1|PSMB1]]|0.422|
|[[:human genes:p:psma3|PSMA3]]|0.421|
|[[:human genes:e:ebna1bp2|EBNA1BP2]]|0.421|
|[[:human genes:n:nup133|NUP133]]|0.421|
|[[:human genes:h:hist2h3a|HIST2H3A]]|0.42|
|[[:human genes:c:chaf1a|CHAF1A]]|0.42|
|[[:human genes:h:hist2h3c|HIST2H3C]]|0.419|
|[[:human genes:h:hinfp|HINFP]]|0.419|
|[[:human genes:n:nfatc4|NFATC4]]|0.418|
|[[:human genes:m:myo1h|MYO1H]]|0.418|
|[[:human genes:p:paf1|PAF1]]|0.418|
|[[:human genes:p:psmd2|PSMD2]]|0.418|
|[[:human genes:c:cdca3|CDCA3]]|0.417|
|[[:human genes:f:fbl|FBL]]|0.417|
|[[:human genes:a:atp6ap1|ATP6AP1]]|0.416|
|[[:human genes:r:rrs1|RRS1]]|0.415|
|[[:human genes:m:mphosph10|MPHOSPH10]]|0.415|
|[[:human genes:p:plk1|PLK1]]|0.415|
|[[:human genes:r:rps12|RPS12]]|0.415|
|[[:human genes:c:cdt1|CDT1]]|0.414|
|[[:human genes:p:plxnb3|PLXNB3]]|0.413|
|[[:human genes:c:ctage4|CTAGE4]]|0.413|
|[[:human genes:l:lad1|LAD1]]|0.413|
|[[:human genes:r:rbm48|RBM48]]|0.412|
|[[:human genes:p:ppm1d|PPM1D]]|0.41|
|[[:human genes:o:orc1|ORC1]]|0.41|
|[[:human genes:g:golga6l4|GOLGA6L4]]|0.409|
|[[:human genes:c:cbwd5|CBWD5]]|0.409|
|[[:human genes:c:crnkl1|CRNKL1]]|0.409|
|[[:human genes:r:rps5|RPS5]]|0.409|
|[[:human genes:p:psmd3|PSMD3]]|0.409|
|[[:human genes:r:rpl6|RPL6]]|0.408|
|[[:human genes:e:exosc5|EXOSC5]]|0.408|
|[[:human genes:g:gid4|GID4]]|0.407|
|[[:human genes:u:uqcrh|UQCRH]]|0.406|
|[[:human genes:s:smg1|SMG1]]|0.405|
|[[:human genes:c:ctage9|CTAGE9]]|0.405|
|[[:human genes:p:parp3|PARP3]]|0.404|
|[[:human genes:w:wdr87|WDR87]]|0.404|
|[[:human genes:g:golga8r|GOLGA8R]]|0.404|
|[[:human genes:c:cln6|CLN6]]|0.404|
|[[:human genes:r:ranbp2|RANBP2]]|0.403|
|[[:human genes:p:psmd8|PSMD8]]|0.403|
|[[:human genes:t:tpx2|TPX2]]|0.403|
|[[:human genes:e:exosc6|EXOSC6]]|0.403|
|[[:human genes:n:nsf|NSF]]|0.402|
|[[:human genes:p:psmd1|PSMD1]]|0.402|
|[[:human genes:a:add2|ADD2]]|0.402|
|[[:human genes:p:psmc5|PSMC5]]|0.402|
|[[:human genes:p:pde4dip|PDE4DIP]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1884
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.01 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL2A1 Expression in NALM6 Cells: -4.01'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>