COL22A1 - collagen type XXII alpha 1 chain Gene

Homo sapiens

Gene ID: 169044 | Gene type: protein coding

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

Collagen

0
300
600
900
1200
1500
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02974	COL22A1 Human Pre-designed siRNA Set A		/	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

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