TAG for ERBB3

Gene content

Symbol

ERBB3 ( by HUGO)

Name

V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog...

Category

Oncogene

Alias

V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 3
LCCS2
Proto-Oncogene-Like Protein C-ErbB-3
Tyrosine Kinase-Type Cell Surface Receptor HER3
HER3
EC 2.7.10.1
Lethal Congenital Contracture Syndrome 2
ErbB-3
MDA-BF-1
c-erbB-3
c-erbB3
erbB3-S
p180-ErbB3
p45-sErbB3
p85-sErbB3
Receptor Tyrosine-Protein Kinase ErbB-3
EC 2.7.10

Cytogenetic band

NCBI: 12q13 Ensembl: 12q13.2

Protein information

ERBB3_HUMAN

Size: 1342 amino acids

Mass: 148098 Da

Subunit: Monomer and homodimer. Heterodimer with each of the other ERBB receptors (Potential). Interacts with CSPG5, PA2G4, GRB7 and MUC1 Developmental stage: Overexpressed in a subset of human mammary tumors 6 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for ERBB3: 1M6B (3D) [IMAGE] 2L9U (3D) [IMAGE] 3KEX (3D) [IMAGE] 3LMG (3D) [IMAGE] 3P11 (3D) [IMAGE] 4LEO (3D) [IMAGE]

Tissue specificity: Epithelial tissues and brain [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including ERBB3 (see all 6): Lung Cancer in human mouse rat Estrogen Receptor Signaling in human mouse rat Cancer Drug Targets in human mouse rat Multiple Sclerosis in

Function:

Binds and is activated by neuregulins and NTAK

Catalytic activity:

ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Similarity:

Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily

Contains 1 protein kinase domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000494	EGF_rcpt_L	Epidermal growth-factor receptor (EGFR), L domain	Domain
	IPR000719	Prot_kinase_dom	Protein kinase	Domain
	IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Tyrosine protein kinase	Domain
	IPR006211	Furin-like_Cys-rich_dom	Furin-like cysteine rich region	Domain
	IPR006212	Furin_repeat	Furin-like repeat	Repeat
	IPR009030	Growth_fac_rcpt_N_dom	Growth factor, receptor	Domain
	IPR011009	Kinase-like_dom	Protein kinase-like	Domain
Blocks	IPB000494	Epidermal growth-factor receptor (EGFR)	Epidermal growth-factor receptor (EGFR), L domain
	IPB000494	Epidermal growth-factor receptor (EGFR)	Epidermal growth-factor receptor (EGFR), L domain
	IPB000494	Epidermal growth-factor receptor (EGFR) IPB006211 Furin-like cysteine rich region IPB008266 Tyrosine protein kinase	Epidermal growth-factor receptor (EGFR), L domain

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of cell adhesion	IDA	GOA	7556068
	negative regulation of secretion	IDA	GOA	10559227
	negative regulation of signal transduction	IDA	GOA	11389077
	neuron apoptotic process	IMP	GOA	17701904
	phosphatidylinositol 3-kinase signaling	IDA	GOA	7556068
	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	GOA	17701904
	positive regulation of protein tyrosine kinase activity	IMP	GOA	7556068
	regulation of cell proliferation	IDA	GOA	11389077
	signal transduction	IDA	GOA	10572067
	transmembrane receptor protein tyrosine kinase signaling pathway	ISS	GOA	7514177
	wound healing	NAS	GOA	12646923
Cellular Component	basolateral plasma membrane	IDA	GOA	12646923
	extracellular space	IDA	GOA	11389077
	integral component of plasma membrane	TAS	GOA	2687875
	plasma membrane	TAS	GOA	17701904
	receptor complex	ISS	GOA	7514177
Molecular Function	growth factor binding	ISS	GOA	7514177
	growth factor binding	IPI	GOA	11389077
	NOT protein tyrosine kinase activity	IDA	GOA	7556068
	protein binding	IPI	GOA	10572067
	protein heterodimerization activity	IPI	GOA	7556068
	protein heterodimerization activity	IDA	GOA	10572067
	protein homodimerization activity	NAS	GOA	11389077
	protein tyrosine kinase activator activity	IDA	GOA	7556068
	transmembrane signaling receptor activity	ISS	GOA	7514177

Disorder & Mutation
Source	Disease
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

ERBB3 cross reference