
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]
- Nucleotide binding
- Enablestranscription cis-regulatory region binding
- Protein kinase activity
- Enables protein serine/threonine/tyrosine kinase activity
- Enables protein tyrosine kinase activity
- Located in extracellular region
- Located in nucleus
- Located in nucleoplasm
- Located in mitochondrion
- Located in mitochondrial matrix
- Involved in neural crest cell migration
- Involved in positive regulation of protein phosphorylation
- Protein phosphorylation
- Apoptotic process
- Involved in signal transduction
- Amyotrophic Lateral Sclerosis 19
- Amyotrophic Lateral Sclerosis 1
- Nk-Cell Enteropathy
- Adenocarcinoma
- Childhood Medulloblastoma
- Leukemia
- Melanoma
- Lateral Sclerosis
- Medulloblastoma
- Paget Disease, Extramammary
- Breast Cancer
- Squamous Cell Carcinoma
- Early Myoclonic Encephalopathy
- Transitional Cell Carcinoma
- Atypical Teratoid Rhabdoid Tumor
- Lung Cancer
- Chromophobe Renal Cell Carcinoma
- Ovarian Cancer
- Schizophrenia
- Pilocytic Astrocytoma
- Colorectal Cancer
- Acneiform Dermatitis
- Lung Squamous Cell Carcinoma
- Bladder Cancer
- Autosomal dominant inheritance
- Abnormality of head or neck
- Abnormality of the mouth
- Xerostomia
- Abnormality of the head
- Abnormality of the face
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Behavioral abnormality
- Restlessness
- Emotional lability
- Agitation
- Depression
- Anxiety
- Spasticity
- Hypertonia
- Gait disturbance
- Muscle weakness
- Abnormality of the larynx
- Abnormality of movement
- Morphological central nervous system abnormality
- Nausea and vomiting
- Abnormality of the respiratory system
ERBB4 Localizations – Subcellular Localization Database

Structure of the ERBB4 protein. Based on PyMOL rendering of PDB 2ahx.
.Gene Location
