ERBB4 erb-b2 receptor tyrosine kinase 4
Gene ID: 2066, updated on 11-Apr-2024Gene type: protein coding
Also known as: HER4; ALS19; p180erbB4
- See all available tests in GTR for this gene
- Go to complete Gene record for ERBB4
- Go to Variation Viewer for ERBB4 variants
Summary
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 events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. GeneReviews: Not available | |
| Amyotrophic lateral sclerosis type 19 | See labs |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. GeneReviews: Not available | |
| Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. GeneReviews: Not available | |
| Genome-wide association study of the five-factor model of personality in young Korean women. GeneReviews: Not available | |
| Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. GeneReviews: Not available | |
| Genome-wide interaction studies reveal sex-specific asthma risk alleles. GeneReviews: Not available | |
| New susceptibility loci associated with kidney disease in type 1 diabetes. GeneReviews: Not available |
Genomic context
- Location:
- 2q34
- Sequence:
- Chromosome: 2; NC_000002.12 (211375717..212538802, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERBB4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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