InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERBB3

Summary

InnateDB Protein

IDBP-377494.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERBB3

Protein Name

v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)

Synonyms

c-erbB-3; c-erbB3; ErbB-3; erbB3-S; HER3; LCCS2; MDA-BF-1; p180-ErbB3; p45-sErbB3; p85-sErbB3;

Species

Homo sapiens

Ensembl Protein

ENSP00000415753

InnateDB Gene

IDBG-39824 (ERBB3)

Protein Structure

UniProt Annotation

Function

Binds and is activated by neuregulins and NTAK. {ECO:0000269PubMed:15358134}.

Subcellular Localization

Isoform 1: Cell membrane; Single-pass type I membrane protein.Isoform 2: Secreted.

Disease Associations

Lethal congenital contracture syndrome 2 (LCCS2) [MIM:607598]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology. {ECO:0000269PubMed:17701904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Epithelial tissues and brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 82 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	82 [view]
Protein-Protein	81 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0019838	growth factor binding
GO:0030296	protein tyrosine kinase activator activity
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0006468	protein phosphorylation
GO:0007162	negative regulation of cell adhesion
GO:0007165	signal transduction
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007422	peripheral nervous system development
GO:0007507	heart development
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0009968	negative regulation of signal transduction
GO:0014037	Schwann cell differentiation
GO:0014065	phosphatidylinositol 3-kinase signaling
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
GO:0021545	cranial nerve development
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0042060	wound healing
GO:0042127	regulation of cell proliferation
GO:0043524	negative regulation of neuron apoptotic process
GO:0045087	innate immune response
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0051048	negative regulation of secretion
GO:0051402	neuron apoptotic process
GO:0061098	positive regulation of protein tyrosine kinase activity
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0043235	receptor complex