Version 5.4
| Homo sapiens Gene: COL4A6 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-81938.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | COL4A6 | ||||||||||||||||||
| Gene Name | collagen, type IV, alpha 6 | ||||||||||||||||||
| Synonyms | CXDELq22.3; DELXq22.3; DFNX6 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000197565 | ||||||||||||||||||
| Encoded Proteins |
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
collagen, type IV, alpha 6
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome X:108155607-108439497 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q22.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Integrin cell surface interactions pathway
Anchoring fibril formation pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen biosynthesis and modifying enzymes pathway
Collagen degradation pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Laminin interactions pathway
Collagen formation pathway
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| KEGG |
ECM-receptor interaction pathway
Small cell lung cancer pathway
Focal adhesion pathway
Pathways in cancer pathway
Amoebiasis pathway
Protein digestion and absorption pathway
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| INOH |
Integrin signaling pathway pathway
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| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.145586 Hs.592785 | ||||||||||||||||||
| RefSeq | NM_001287758 NM_001287759 NM_001287760 NM_001847 NM_033641 XM_006724617 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS14541 CCDS14542 CCDS76008 CCDS76009 CCDS76010 | ||||||||||||||||||
| HPRD | 02364 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||