COL2A1

Gene Information

Official Symbol: COL2A1
Official Name: collagen type II alpha 1 chain
Aliases and Previous Symbols: N/A
Entrez ID: 1280
UniProt: P02458
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: N/A

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
DABN 20μM R00 exp17	-2.39
DABN racemic mixture R03 exp93	-2.14
Benzoate 20000μM R08 exp456	-2.08
Etoposide 0.3μM R05 exp199	-1.93
AICAR 240μM R05 exp211	-1.81
Actinomycin-D 0.001μM R00 exp3	-1.77
GSK461364A 0.1μM R03 exp126	-1.76
RO-3306 3 to 4μM on day4 R04 exp165	1.78

Gene	Correlation
PSMA6	0.564
PRIM1	0.551
TCEB3C	0.547
PSMB4	0.532
UPF1	0.527
TBC1D3	0.525
TICRR	0.525
TWISTNB	0.524
UTP3	0.524
TCEB3CL	0.522
TBC1D3F	0.514
IK	0.514
TCEB3CL2	0.508
C1QTNF9B	0.502
SLC4A1	0.501
RRP7A	0.497
TBC1D3H	0.497
CHD4	0.496
RPS7	0.494
CDC73	0.493
CACTIN	0.493
PSMB2	0.492
ZNF830	0.492
VPS28	0.49
RPL35	0.487
RPS2	0.485
EXOSC9	0.484
TP53TG3C	0.483
TP53TG3B	0.483
TP53TG3	0.483
POLR2J3	0.481
TYMS	0.481
KRT78	0.481
RRN3	0.48
PSMC1	0.48
TBC1D3G	0.48
C14orf93	0.475
GOLGA8O	0.472
ORC6	0.472
NPIPB5	0.472
TSPY1	0.469
VASN	0.469
POLE	0.467
PAN3	0.466
PWP2	0.466
TBC1D3C	0.465
CCDC116	0.465
PSMC2	0.463
MFSD12	0.463
PSMB3	0.461
CDCA5	0.46
PSMD11	0.459
FAM160A1	0.459
COPG1	0.458
POLA2	0.458
TBC1D3K	0.457
TBC1D3I	0.457
TBC1D3E	0.457
TBC1D3L	0.456
GOLGA6L1	0.454
ACSF2	0.454
HAP1	0.452
LRR1	0.451
AAMP	0.45
CDH24	0.45
SLC6A17	0.449
OSBP	0.448
TP53TG3D	0.448
NARFL	0.447
WDR75	0.446
PAN2	0.444
PBXIP1	0.443
MKI67IP	0.442
ATP6V0C	0.442
CDC45	0.442
AKT1S1	0.441
PSMA7	0.44
PSMD14	0.44
POLR1A	0.44
MADCAM1	0.439
CCNA2	0.439
ANKLE2	0.439
DNTTIP2	0.438
PSMC6	0.438
CEP192	0.438
TIMELESS	0.438
DTL	0.437
DDT	0.437
CGB2	0.436
ZFAND5	0.436
ANKLE1	0.436
CBWD3	0.435
KCTD17	0.434
POLA1	0.432
GOLGA6L3	0.432
CBWD6	0.432
NPIPB8	0.432
DOCK6	0.432
COPE	0.431
DDTL	0.431
CCDC64B	0.429
AATF	0.429
DHX38	0.428
COX7A2L	0.427
AKIRIN2	0.427
MYB	0.426
ABHD8	0.426
TSG101	0.425
SH3BP1	0.425
RPA2	0.424
FAM231C	0.424
FAM231A	0.424
SAP30BP	0.424
OR10G3	0.424
RPL9	0.423
POLR2F	0.423
RAD51	0.423
POLR2D	0.423
RPL34	0.423
PSMB1	0.422
PSMA3	0.421
EBNA1BP2	0.421
NUP133	0.421
HIST2H3A	0.42
CHAF1A	0.42
HIST2H3C	0.419
HINFP	0.419
NFATC4	0.418
MYO1H	0.418
PAF1	0.418
PSMD2	0.418
CDCA3	0.417
FBL	0.417
ATP6AP1	0.416
RRS1	0.415
MPHOSPH10	0.415
PLK1	0.415
RPS12	0.415
CDT1	0.414
PLXNB3	0.413
CTAGE4	0.413
LAD1	0.413
RBM48	0.412
PPM1D	0.41
ORC1	0.41
GOLGA6L4	0.409
CBWD5	0.409
CRNKL1	0.409
RPS5	0.409
PSMD3	0.409
RPL6	0.408
EXOSC5	0.408
GID4	0.407
UQCRH	0.406
SMG1	0.405
CTAGE9	0.405
PARP3	0.404
WDR87	0.404
GOLGA8R	0.404
CLN6	0.404
RANBP2	0.403
PSMD8	0.403
TPX2	0.403
EXOSC6	0.403
NSF	0.402
PSMD1	0.402
ADD2	0.402
PSMC5	0.402
PDE4DIP	0.4

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

Essentiality in NALM6

Essentiality Rank: 1884
Expression level (log2 read counts): -4.01

Expression Distribution

Collagen
VWC
COLFI

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