COL22A1 - collagen type XXII alpha 1 chain Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 169044

About COL22A1

Cytogenetic location: 8q24.23-q24.3 Genomic coordinates (GRCh38): 8:138,588,235-138,914,041 (from NCBI)

This gene has 7 transcripts (splice variants), 117 orthologues and 37 paralogues. Biased expression in adrenal (RPKM 3.6), prostate (RPKM 1.2) and 7 other tissues.

Summary

This gene encodes member of the Collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the Collagen superfamily, which associate with Collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]

COL22A1 Products (1)

mRNA Protein Name
NM_152888.3 NP_690848.1 collagen alpha-1(XXII) chain precursor

COL22A1 Protein Structure

VWA

VWA: von Willebrand factor type A domain (38 - 210)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (539 - 596)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (566 - 624)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (714 - 772)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (750 - 807)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (798 - 853)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (865 - 920)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (952 - 1009)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1045 - 1096)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1118 - 1174)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1159 - 1214)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1249 - 1307)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1300 - 1357)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1363 - 1416)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1402 - 1457)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1496 - 1551)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1553 - 1604)

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  • 1626 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(XXII) chain

Related Diseases

Diseases Alias
Muscular Dystrophy

  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy
Pulmonary Systemic Sclerosis

  • Lung Disease With Systemic Sclerosis

  • Lung Involvement In Systemic Sclerosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02974 COL22A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21998 Col22a1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28515 Col22a1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta COL22A1 VGNC VGNC:99470
Mus musculus COL22A1 MGD MGI:1916950
Bos taurus COL22A1 VGNC VGNC:27563
Canis familiaris COL22A1 VGNC VGNC:39468
Rattus norvegicus COL22A1 RGD RGD:1309081
Others COL22A1 NCBI