Version 5.4
| Homo sapiens Gene: COL4A4 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-82438.5 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | COL4A4 | ||||||||||||||||||
| Gene Name | collagen, type IV, alpha 4 | ||||||||||||||||||
| Synonyms | CA44 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000081052 | ||||||||||||||||||
| Encoded Proteins |
collagen, type IV, alpha 4
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| Protein Structure |
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| 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. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3\' UTR. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 2:227002711-227164113 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q36.3 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 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
Signaling by PDGF pathway
Anchoring fibril formation pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen biosynthesis and modifying enzymes pathway
Collagen degradation pathway
NCAM1 interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Axon guidance pathway
Signal Transduction 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 | P53420 | ||||||||||||||||||
| TrEMBL | J3KNM7 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 1286 | ||||||||||||||||||
| UniGene | Hs.418040 Hs.591645 | ||||||||||||||||||
| RefSeq | NM_000092 XM_005246281 XM_006712247 XM_006712250 | ||||||||||||||||||
| HUGO | HGNC:2206 | ||||||||||||||||||
| OMIM | 120131 | ||||||||||||||||||
| CCDS | CCDS42828 | ||||||||||||||||||
| HPRD | 00360 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB008496 AC073149 AC079235 CH471063 D17391 X81053 Y17397 Y17398 Y17399 Y17400 Y17401 Y17402 Y17403 Y17404 Y17405 Y17406 Y17407 Y17408 Y17409 Y17410 Y17411 Y17412 Y17413 Y17414 Y17415 Y17416 Y17417 Y17418 Y17419 Y17420 Y17421 Y17422 Y17423 Y17424 Y17425 Y17426 Y17427 Y17428 Y17429 Y17430 Y17431 Y17432 Y17433 Y17434 Y17435 Y17436 Y17437 Y17438 Y17439 Y17440 Y17441 Y17442 Y17443 | ||||||||||||||||||
| GenPept | AAY14670 AAY24061 BAA04214 BAA25065 CAA56943 CAA76763 EAW70845 EAW70846 | ||||||||||||||||||
| RNA Seq Atlas | 1286 | ||||||||||||||||||