| 619563 | ERBB2 | erb-b2 receptor tyrosine kinase 2 | This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heter odimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] | 17 | 39688094 | 39728658 | Human | 969 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1352967 | TOB1 | transducer of ERBB2, 1 | This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple tran script variants. [provided by RefSeq, Aug 2011] | 17 | 50862223 | 50867978 | Human | 165 | name | gene, protein-coding, REVIEWED [RefSeq] |
| 1342508 | TOB2 | transducer of ERBB2, 2 | TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004] | 22 | 41433494 | 41446801 | Human | 123 | name | gene, protein-coding, VALIDATED [RefSeq] |
| 1321667 | ERBIN | erbb2 interacting protein | This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 span> function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] | 5 | 65926575 | 66082546 | Human | 132 | old_gene_name , name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1347878 | TOB2P1 | transducer of ERBB2, 2 pseudogene 1 | INTERACTS WITH 2-hydroxypropanoic acid; aflatoxin B1; all-trans-retinoic acid | 6 | 28215338 | 28218929 | Human | 13 | name | gene, pseudo, VALIDATED [RefSeq] |
| 1352306 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of t he constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017] | 17 | 39671122 | 39688057 | Human | 168 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1320537 | MEMO1 | mediator of cell motility 1 | Involved in regulation of microtubule-based process. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 31867823 | 32011008 | Human | 18 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 731515 | NRG1 | neuregulin 1 | The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016] | 8 | 31639245 | 32774046 | Human | 580 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1315195 | DNAJA3 | DnaJ heat shock protein family (Hsp40) member A3 | This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] | 16 | 4425868 | 4456775 | Human | 183 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731429 | ITGA6 | integrin subunit alpha 6 | The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] | 2 | 172427336 | 172506459 | Human | 348 | description | gene, protein-coding, REVIEWED [RefSeq] |
