COL2A1

collagen type II alpha 1 chain

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000139219
UniProt:
P02458
OMIM:
120140
Synonyms:
AOM, SEDC, STL1

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.18) PMID:41160700

Phenotypes

Mouse phenotype:
edema, abnormal skin morphology, abnormal liver size, abnormal embryo size, abnormal zygomatic bone morphology, abnormal spleen morphology, abnormal tail morphology, abnormal embryo development, abnormal head size, cleft palate, abnormal body wall morphology, increased monocyte cell number, protruding tongue, abnormal maxilla morphology, respiratory system phenotype, no spontaneous movement, abnormal limb morphology

Subcellular localization

lysosomes

Functional category

  • Ciliary assembly/disassembly
  • ECM & connective tissue

Function

Mutations in the COL2A1 gene cause Spondylometaphyseal Dysplasia (PMID: 38162154).