| Gene Information | |
|---|---|
| Gene Name | VWA4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2615 |
| Protein Names | Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | A8TX70 |
| Gene Card | COL6A5 |
| Uniprot ID | A8TX70 |
| Pfam | PF01391; PF00092 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level). {ECO:0000269|PubMed:17850181}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1453241 rs9882852 rs16827168 rs11917356 rs1353613 rs12488457 rs1497312 rs16827497 rs60021408 rs9883988 rs819085 |
| Subcellular location [CC] | Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Deposed in the extracellular matrix of skeletal muscle. {ECO:0000250}. |
| Mouse PG classification | NA |
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