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

Emw Own work. Structure of the ERBB4 protein. Based on PyMOL rendering of PDB 2ahx.

Gene Location