Human Gene COL4A6 (ENST00000477085.1) from GENCODE V44
Description: collagen type IV alpha 6 chain (from HGNC COL4A6) RefSeq Summary (NM_001847): 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]. Gencode Transcript: ENST00000477085.1 Gencode Gene: ENSG00000197565.17 Transcript (Including UTRs) Position: hg38 chrX:108,267,642-108,439,497 Size: 171,856 Total Exon Count: 4 Strand: -
Press "+" in the title bar above to open this section.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
D21337 - Homo sapiens mRNA for collagen, complete cds. BC140855 - Homo sapiens collagen, type IV, alpha 6, mRNA (cDNA clone MGC:176532 IMAGE:9021723), complete cds. BC144669 - Homo sapiens collagen, type IV, alpha 6, mRNA (cDNA clone MGC:178217 IMAGE:9053200), complete cds. U04845 - Homo sapiens A type IV collagen (COL4A6) mRNA, complete cds. L22763 - Human alpha-6 type IV collagen mRNA, 5' end. BC000874 - Homo sapiens, Similar to collagen, type IV, alpha 6, clone IMAGE:3461295, mRNA. BC070203 - Homo sapiens collagen, type IV, alpha 6, mRNA (cDNA clone IMAGE:4274195), complete cds. BC005305 - Homo sapiens collagen, type IV, alpha 6, mRNA (cDNA clone IMAGE:3951220), complete cds. KJ901346 - Synthetic construct Homo sapiens clone ccsbBroadEn_10740 COL4A6 gene, encodes complete protein. BT007228 - Homo sapiens collagen, type IV, alpha 6 mRNA, complete cds. JD200623 - Sequence 181647 from Patent EP1572962. JD488484 - Sequence 469508 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04510 - Focal adhesion hsa04512 - ECM-receptor interaction hsa05200 - Pathways in cancer hsa05222 - Small cell lung cancer
BioCarta from NCI Cancer Genome Anatomy Project h_amiPathway - Acute Myocardial Infarction h_plateletAppPathway - Platelet Amyloid Precursor Protein Pathway h_intrinsicPathway - Intrinsic Prothrombin Activation Pathway h_npp1Pathway - Regulators of Bone Mineralization h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function h_vitCBPathway - Vitamin C in the Brain