| ERBB4 |
| LOCUS ID | 2066 | ||||||||||
| GENE_SYMBOL | ERBB4 | ||||||||||
| GENE NAME | erb-b2 receptor tyro | ||||||||||
| SYNONYMNS | HER4, ALS19, p180erbB4 | ||||||||||
| CHROMOSOME | 2 | ||||||||||
| HOMOLOGENE ID | 21084 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic e |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2. 1 * 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4 | 21127830 |