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Protein Coding Gene : Col2a1 collagen, type II, alpha 1

Primary Identifier  MGI:88452 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  12824
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables identical protein binding activity. Involved in several processes, including limb bud formation; notochord development; and otic vesicle development. Acts upstream of or within several processes, including collagen fibril organization; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; and skeletal system development. Located in basement membrane; cytoplasm; and extracellular space. Part of collagen type II trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; limb; sensory organ; and skeleton. Used to study achondrogenesis type II; hypochondrogenesis; spondyloepimetaphyseal dysplasia; and spondyloepiphyseal dysplasia congenita. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).
PHENOTYPE: Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. [provided by MGI curators]
  • synonyms:
  • collagen, type II, alpha 1,
  • procollagen, type II,
  • MGD-MRK-2063,
  • MGI:3800690,
  • Col2a-1,
  • Col2a1,
  • MGI:3847802,
  • MGD-MRK-2061,
  • longpockets,
  • Del1,
  • Dmm,
  • MGD-MRK-8871,
  • MGI:3808757,
  • disproportionate micromelia,
  • M100413,
  • Lpk,
  • RIKEN Genomic Sciences Center (GSC), 413,
  • Col2a,
  • Rgsc856,
  • M100856,
  • RIKEN Genomic Sciences Center (GSC), 856,
  • Col2,
  • MGD-MRK-2062,
  • Rgsc413

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

3 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

24 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

9 Driver For