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Aliases for ERBB4 Gene

Aliases for ERBB4 Gene

  • Erb-B2 Receptor Tyrosine Kinase 4 2 3 5
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4 2 3
  • Tyrosine Kinase-Type Cell Surface Receptor HER4 3 4
  • Human Epidermal Growth Factor Receptor 4 2 3
  • Proto-Oncogene-Like Protein C-ErbB-4 3 4
  • EC 2.7.10.1 4 61
  • P180erbB4 3 4
  • HER4 3 4
  • V-Erb-A Avian Erythroblastic Leukemia Viral Oncogene Homolog-Like 4 2
  • Avian Erythroblastic Leukemia Viral (V-Erb-B2) Oncogene Homolog 4 3
  • V-Erb-A Erythroblastic Leukemia Viral Oncogene Homolog 4 3
  • Receptor Tyrosine-Protein Kinase ErbB-4 3
  • ERBB4 Transcript Variant I12DEL 3
  • ERBB4 Transcript Variant I20DEL 3
  • EC 2.7.10 61
  • ALS19 3

External Ids for ERBB4 Gene

Previous GeneCards Identifiers for ERBB4 Gene

  • GC02M210522
  • GC02M210971
  • GC02M212210
  • GC02M212449
  • GC02M212072
  • GC02M211955
  • GC02M204087

Summaries for ERBB4 Gene

Entrez Gene Summary for ERBB4 Gene

  • 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]

GeneCards Summary for ERBB4 Gene

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4) is a Protein Coding gene. Diseases associated with ERBB4 include Amyotrophic Lateral Sclerosis 19 and Erbb4-Related Amyotrophic Lateral Sclerosis. Among its related pathways are PI-3K cascade-FGFR3 and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is EGFR.

UniProtKB/Swiss-Prot for ERBB4 Gene

  • Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis.

Tocris Summary for ERBB4 Gene

  • The epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase of the ErbB family. Four members of the ErbB family have been identified; EGFR (ErbB1, HER1), ErbB2 (HER2), ErbB3 (HER3) and ErbB4 (HER4). EGFR signaling drives many cellular responses.

Gene Wiki entry for ERBB4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERBB4 Gene

Genomics for ERBB4 Gene

Regulatory Elements for ERBB4 Gene

Enhancers for ERBB4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ERBB4 on UCSC Golden Path with GeneCards custom track

Promoters for ERBB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ERBB4 Gene

Chromosome:
2
Start:
211,375,717 bp from pter
End:
212,539,155 bp from pter
Size:
1,163,439 bases
Orientation:
Minus strand

Genomic View for ERBB4 Gene

Genes around ERBB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERBB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERBB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERBB4 Gene

Proteins for ERBB4 Gene

  • Protein details for ERBB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15303-ERBB4_HUMAN
    Recommended name:
    Receptor tyrosine-protein kinase erbB-4
    Protein Accession:
    Q15303
    Secondary Accessions:
    • B7ZLD7
    • B7ZLE2
    • B7ZLE3
    • Q2M1W1
    • Q59EW4

    Protein attributes for ERBB4 Gene

    Size:
    1308 amino acids
    Molecular mass:
    146808 Da
    Quaternary structure:
    • Monomer in the absence of bound ligand. Homodimer or heterodimer with another ERBB family member upon ligand binding, thus forming heterotetramers. Interacts with EGFR and ERBB2. Interacts with CBFA2T3 (By similarity). Interacts with DLG2 (via its PDZ domain), DLG3 (via its PDZ domain), DLG4 (via its PDZ domain) and SNTB2 (via its PDZ domain). Interacts with MUC1. Interacts (via its PPxy motifs) with WWOX. Interacts (via the PPxY motif 3 of isoform JM-A CYT-2) with YAP1 (via the WW domain 1 of isoform 1). Interacts (isoform JM-A CYT-1 and isoform JM-B CYT-1) with WWP1. Interacts (via its intracellular domain) with TRIM28. Interacts (via the intracellular domains of both CYT-1 and CYT-2 isoforms) with KAP1; the interaction does not phosphorylate KAP1 but represses ERBB4-mediated transcriptional activity. Interacts with PRPU, DDX23, MATR3, RBM15, ILF3, KAP1, U5S1, U2SURP, ITCH, HNRPU, AP2A1, NULC, LEO1, WWP2, IGHG1, HXK1, GRB7 AND ARS2. Interacts (phosphorylated isoform JM-A CYT-1 and isoform JM-B CYT-1) with PIK3R1. Interacts with SHC1. Interacts with GRB2. Interacts (soluble intracellular domain) with STAT5A. Interacts (soluble intracellular domain) with BCL2. Interacts (phosphorylated) with STAT1.

    Three dimensional structures from OCA and Proteopedia for ERBB4 Gene

    Alternative splice isoforms for ERBB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERBB4 Gene

Post-translational modifications for ERBB4 Gene

  • Autophosphorylated on tyrosine residues in response to ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Ligands trigger phosphorylation at specific tyrosine residues, thereby creating binding sites for scaffold proteins and effectors. Constitutively phosphorylated at a basal level when overexpressed in heterologous systems; ligand binding leads to increased phosphorylation. Phosphorylation at Tyr-1035 is important for interaction with STAT1. Phosphorylation at Tyr-1056 is important for interaction with PIK3R1. Phosphorylation at Tyr-1242 is important for interaction with SHC1. Phosphorylation at Tyr-1188 may also contribute to the interaction with SHC1. Isoform JM-A CYT-2 is constitutively phosphorylated on tyrosine residues in a ligand-independent manner. E4ICD2 but not E4ICD1 is phosphorylated on tyrosine residues.
  • Isoform JM-A CYT-1 and isoform JM-A CYT-2 are processed by ADAM17. Proteolytic processing in response to ligand or 12-O-tetradecanoylphorbol-13-acetate stimulation results in the production of 120 kDa soluble receptor forms and intermediate membrane-anchored 80 kDa fragments (m80HER4), which are further processed by a presenilin-dependent gamma-secretase to release a cytoplasmic intracellular domain (E4ICD; E4ICD1/s80Cyt1 or E4ICD2/s80Cyt2, depending on the isoform). Membrane-anchored 80 kDa fragments of the processed isoform JM-A CYT-1 are more readily degraded by the proteasome than fragments of isoform JM-A CYT-2, suggesting a prevalence of E4ICD2 over E4ICD1. Isoform JM-B CYT-1 and isoform JM-B CYT-2 lack the ADAM17 cleavage site and are not processed by ADAM17, precluding further processing by gamma-secretase.
  • Ubiquitinated. During mitosis, the ERBB4 intracellular domain is ubiquitinated by the APC/C complex and targeted to proteasomal degradation. Isoform JM-A CYT-1 and isoform JM-B CYT-1 are ubiquitinated by WWP1. The ERBB4 intracellular domain (E4ICD1) is ubiquitinated, and this involves NEDD4.
  • Ubiquitination at Lys 745 and Lys 1265
  • Glycosylation at Asn 138, Asn 174, Asn 181, Asn 253, Asn 358, Asn 410, Asn 473, Asn 495, Asn 548, Asn 576, and Asn 620
  • Modification sites at PhosphoSitePlus

Other Protein References for ERBB4 Gene

Domains & Families for ERBB4 Gene

Suggested Antigen Peptide Sequences for ERBB4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15303

UniProtKB/Swiss-Prot:

ERBB4_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with ERBB4: view

Function for ERBB4 Gene

Molecular function for ERBB4 Gene

GENATLAS Biochemistry:
avian erythroblastic leukemia v(erb-b) viral oncogene homolog 4,heregulin beta 1 receptor (180kDa)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Binding of a cognate ligand leads to dimerization and activation by autophosphorylation on tyrosine residues. In vitro kinase activity is increased by Mg(2+). Inhibited by PD153035, lapatinib, gefitinib (iressa, ZD1839), AG1478 and BIBX1382BS.
UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis.

Enzyme Numbers (IUBMB) for ERBB4 Gene

Gene Ontology (GO) - Molecular Function for ERBB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA 18334220
GO:0004716 receptor signaling protein tyrosine kinase activity IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005154 epidermal growth factor receptor binding IPI 8617750
genes like me logo Genes that share ontologies with ERBB4: view
genes like me logo Genes that share phenotypes with ERBB4: view

Human Phenotype Ontology for ERBB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERBB4 Gene

MGI Knock Outs for ERBB4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBB4

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ERBB4 Gene

Localization for ERBB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERBB4 Gene

Cell membrane; Single-pass type I membrane protein. Note=In response to NRG1 treatment, the activated receptor is internalized.
ERBB4 intracellular domain: Nucleus. Mitochondrion. Note=Following proteolytical processing E4ICD (E4ICD1 or E4ICD2 generated from the respective isoforms) is translocated to the nucleus. Significantly more E4ICD2 than E4ICD1 is found in the nucleus. E4ICD2 colocalizes with YAP1 in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERBB4 Gene COMPARTMENTS Subcellular localization image for ERBB4 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytoskeleton 1
endosome 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ERBB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA 15534001
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IDA 16778220
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ERBB4: view

Pathways & Interactions for ERBB4 Gene

SuperPathways for ERBB4 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI-3K cascade-FGFR3
3 GPCR Pathway
4 Signaling by ERBB2
5 ERK Signaling
genes like me logo Genes that share pathways with ERBB4: view

SIGNOR curated interactions for ERBB4 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ERBB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001755 neural crest cell migration ISS --
GO:0001934 positive regulation of protein phosphorylation TAS 15534001
GO:0006351 transcription, DNA-templated IEA --
GO:0007165 signal transduction IDA 10572067
genes like me logo Genes that share ontologies with ERBB4: view

Drugs & Compounds for ERBB4 Gene

(42) Drugs for ERBB4 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gefitinib Approved, Investigational Pharma Biomarker, inhibitor EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 345
afatinib Approved Pharma Target, inhibitor Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0
Gilotrif Approved July 2013 Pharma 0
Adenosine triphosphate Approved Nutra 0
Iressa Approved May 2003 Pharma Orally active, selective EGFR inhibitor 0

(18) Additional Compounds for ERBB4 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
AG 490
133550-30-8
AV 412
451492-95-8
CP 724714
383432-38-0
PF 6274484
1035638-91-5

(5) Tocris Compounds for ERBB4 Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
AV 412 Potent inhibitor of EGFR, ErbB2 and Abl receptor tyrosine kinases 451492-95-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Iressa Orally active, selective EGFR inhibitor 184475-35-2
PF 6274484 High affinity and potent covalent EGFR kinase inhibitor 1035638-91-5

(2) ApexBio Compounds for ERBB4 Gene

Compound Action Cas Number
AZD8931 (Sapitinib) ErbB inhibitor 848942-61-0
Varlitinib (ARRY334543) ErbB inhibitor 845272-21-1
genes like me logo Genes that share compounds with ERBB4: view

Drug Products

Transcripts for ERBB4 Gene

mRNA/cDNA for ERBB4 Gene

(11) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERBB4 Gene

V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBB4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERBB4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2: -

ExUns: 27 ^ 28a · 28b
SP1:
SP2:

Relevant External Links for ERBB4 Gene

GeneLoc Exon Structure for
ERBB4
ECgene alternative splicing isoforms for
ERBB4

Expression for ERBB4 Gene

mRNA expression in normal human tissues for ERBB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ERBB4 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x4.5) and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for ERBB4 Gene

This gene is overexpressed in Skin (53.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERBB4 Gene



Protein tissue co-expression partners for ERBB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERBB4 Gene:

ERBB4

SOURCE GeneReport for Unigene cluster for ERBB4 Gene:

Hs.390729

mRNA Expression by UniProt/SwissProt for ERBB4 Gene:

Q15303-ERBB4_HUMAN
Tissue specificity: Expressed at highest levels in brain, heart, kidney, in addition to skeletal muscle, parathyroid, cerebellum, pituitary, spleen, testis and breast. Lower levels in thymus, lung, salivary gland, and pancreas. Isoform JM-A CYT-1 and isoform JM-B CYT-1 are expressed in cerebellum, but only the isoform JM-B is expressed in the heart.
genes like me logo Genes that share expression patterns with ERBB4: view

Primer Products

Orthologs for ERBB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERBB4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERBB4 34
  • 91.55 (n)
  • 96.84 (a)
ERBB4 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERBB4 34
  • 93.3 (n)
  • 97.84 (a)
ERBB4 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erbb4 34
  • 89.94 (n)
  • 97.29 (a)
Erbb4 16
Erbb4 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERBB4 34
  • 99.64 (n)
  • 99.92 (a)
ERBB4 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erbb4 34
  • 89.93 (n)
  • 96.56 (a)
oppossum
(Monodelphis domestica)
Mammalia ERBB4 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERBB4 35
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERBB4 34
  • 82.22 (n)
  • 93.29 (a)
ERBB4 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERBB4 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erbb4 34
  • 75.84 (n)
  • 84.31 (a)
zebrafish
(Danio rerio)
Actinopterygii erbb4a 34
  • 69.76 (n)
  • 75.3 (a)
ERBB4 (3 of 4) 35
  • 87 (a)
OneToMany
ERBB4 (4 of 4) 35
  • 78 (a)
OneToMany
erbb4a 35
  • 68 (a)
OneToMany
erbb4b 35
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Egfr 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea F09G2.1 36
  • 31 (a)
let-23 36
  • 28 (a)
Species where no ortholog for ERBB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERBB4 Gene

ENSEMBL:
Gene Tree for ERBB4 (if available)
TreeFam:
Gene Tree for ERBB4 (if available)

Paralogs for ERBB4 Gene

Paralogs for ERBB4 Gene

genes like me logo Genes that share paralogs with ERBB4: view

Variants for ERBB4 Gene

Sequence variations from dbSNP and Humsavar for ERBB4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_042113 A colorectal adenocarcinoma sample
VAR_042114 A lung squamous cell carcinoma sample
rs397514262 Amyotrophic lateral sclerosis 19 (ALS19) 211,424,241(-) AACGC(A/G)AGAAA reference, missense
rs397514263 Amyotrophic lateral sclerosis 19 (ALS19) 211,383,719(-) GGATC(C/T)GGCCT reference, missense
rs1025752 -- 211,858,734(-) ATGCC(A/G)GATTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERBB4 Gene

Variant ID Type Subtype PubMed ID
dgv107n73 CNV deletion 24416366
dgv1205e212 CNV loss 25503493
dgv1206e212 CNV loss 25503493
dgv1207e212 CNV loss 25503493
dgv1208e212 CNV loss 25503493
dgv1209e212 CNV loss 25503493
dgv2139n106 CNV deletion 24896259
dgv2140n106 CNV deletion 24896259
dgv2141n106 CNV tandem duplication 24896259
dgv2142n106 CNV deletion 24896259
dgv259e215 CNV deletion 23714750
dgv29n50 CNV loss 21212237
dgv4165n100 CNV loss 25217958
dgv4166n100 CNV loss 25217958
dgv4167n100 CNV loss 25217958
dgv4168n100 CNV loss 25217958
dgv4169n100 CNV loss 25217958
dgv4170n100 CNV gain 25217958
dgv487n27 CNV loss 19166990
dgv488n27 CNV loss 19166990
dgv489n27 CNV loss 19166990
dgv490n27 CNV loss 19166990
dgv491n27 CNV loss 19166990
dgv7269n54 CNV loss 21841781
dgv7270n54 CNV loss 21841781
dgv7271n54 CNV loss 21841781
dgv7272n54 CNV loss 21841781
dgv7273n54 CNV loss 21841781
dgv7274n54 CNV loss 21841781
dgv7275n54 CNV loss 21841781
dgv7276n54 CNV loss 21841781
dgv7277n54 CNV loss 21841781
dgv7278n54 CNV loss 21841781
dgv7279n54 CNV loss 21841781
dgv7280n54 CNV loss 21841781
dgv7281n54 CNV loss 21841781
dgv7282n54 CNV loss 21841781
dgv7283n54 CNV loss 21841781
dgv7284n54 CNV loss 21841781
dgv7285n54 CNV loss 21841781
dgv7286n54 CNV loss 21841781
dgv7287n54 CNV loss 21841781
dgv7288n54 CNV loss 21841781
esv1034805 CNV deletion 17803354
esv1345178 CNV insertion 17803354
esv2098674 CNV deletion 18987734
esv2112410 CNV deletion 18987734
esv23750 CNV loss 19812545
esv2422123 CNV deletion 20811451
esv2519305 CNV deletion 19546169
esv2567329 CNV deletion 19546169
esv25751 CNV loss 19812545
esv2656561 CNV deletion 23128226
esv2657326 CNV deletion 23128226
esv2663972 CNV deletion 23128226
esv2664538 CNV deletion 23128226
esv2670570 CNV deletion 23128226
esv2673624 CNV deletion 23128226
esv2675399 CNV deletion 23128226
esv2721423 CNV deletion 23290073
esv2721424 CNV deletion 23290073
esv2721425 CNV deletion 23290073
esv2721426 CNV deletion 23290073
esv2721427 CNV deletion 23290073
esv2759113 CNV loss 17122850
esv2763085 CNV gain 21179565
esv2763101 CNV loss 21179565
esv2763176 CNV loss 21179565
esv29110 CNV loss 19812545
esv29362 CNV loss 19812545
esv3025991 CNV deletion 24192839
esv3303704 CNV mobile element insertion 20981092
esv3304257 CNV mobile element insertion 20981092
esv3304832 CNV mobile element insertion 20981092
esv3306717 CNV mobile element insertion 20981092
esv3306787 CNV mobile element insertion 20981092
esv3308721 CNV mobile element insertion 20981092
esv3308729 CNV mobile element insertion 20981092
esv3309616 CNV mobile element insertion 20981092
esv3324303 CNV insertion 20981092
esv3326396 CNV insertion 20981092
esv33432 CNV loss 17666407
esv3355687 CNV insertion 20981092
esv3360602 CNV insertion 20981092
esv3366328 CNV insertion 20981092
esv3373098 CNV insertion 20981092
esv3389772 CNV insertion 20981092
esv3400453 CNV insertion 20981092
esv3405415 CNV insertion 20981092
esv34076 CNV loss 18971310
esv34128 CNV loss 18971310
esv3413432 CNV insertion 20981092
esv3421013 CNV insertion 20981092
esv3431484 CNV insertion 20981092
esv3443472 CNV insertion 20981092
esv3445795 CNV insertion 20981092
esv3560927 CNV deletion 23714750
esv3560929 CNV deletion 23714750
esv3560931 CNV deletion 23714750
esv3560934 CNV deletion 23714750
esv3560935 CNV deletion 23714750
esv3560939 CNV deletion 23714750
esv3575326 CNV gain 25503493
esv3575328 CNV gain 25503493
esv3584300 CNV loss 25503493
esv3584332 CNV loss 25503493
esv3584333 CNV loss 25503493
esv3594174 CNV loss 21293372
esv3594176 CNV loss 21293372
esv3594178 CNV gain 21293372
esv3594180 CNV gain 21293372
esv3594181 CNV loss 21293372
esv3594184 CNV loss 21293372
esv3594185 CNV loss 21293372
esv3594186 CNV gain 21293372
esv3594187 CNV loss 21293372
esv3594188 CNV gain 21293372
esv3594190 CNV gain 21293372
esv3594191 CNV loss 21293372
esv3594193 CNV loss 21293372
esv3594195 CNV loss 21293372
esv3594197 CNV loss 21293372
esv3594200 CNV gain 21293372
esv3594201 CNV loss 21293372
esv3594202 CNV loss 21293372
esv3594203 CNV gain 21293372
esv3594204 CNV loss 21293372
esv3594205 CNV loss 21293372
esv3594206 CNV loss 21293372
esv3594207 CNV gain 21293372
esv3594208 CNV loss 21293372
esv3594209 CNV loss 21293372
esv3594210 CNV gain 21293372
esv3594211 CNV loss 21293372
esv3594212 CNV loss 21293372
esv3893547 CNV loss 25118596
esv3893548 CNV loss 25118596
esv3893549 CNV loss 25118596
esv4037 CNV loss 18987735
esv7939 CNV loss 19470904
esv988519 CNV insertion 20482838
esv997888 CNV deletion 20482838
nsv1001718 CNV gain 25217958
nsv1003694 CNV gain 25217958
nsv1004573 CNV loss 25217958
nsv1006327 CNV loss 25217958
nsv1007853 CNV loss 25217958
nsv1008463 CNV loss 25217958
nsv1010783 CNV loss 25217958
nsv1011111 CNV loss 25217958
nsv1011572 CNV loss 25217958
nsv1012269 CNV loss 25217958
nsv1014136 CNV loss 25217958
nsv1014479 CNV loss 25217958
nsv10218 CNV loss 18304495
nsv1073009 CNV deletion 25765185
nsv1114168 CNV deletion 24896259
nsv1115999 CNV insertion 24896259
nsv1125713 CNV tandem duplication 24896259
nsv1129211 CNV insertion 24896259
nsv1129651 CNV tandem duplication 24896259
nsv1133286 CNV tandem duplication 24896259
nsv1136467 CNV deletion 24896259
nsv1149825 CNV deletion 26484159
nsv1153884 CNV insertion 26484159
nsv1160901 CNV deletion 26073780
nsv1160902 CNV deletion 26073780
nsv1160903 OTHER complex 26073780
nsv1160904 CNV deletion 26073780
nsv213755 CNV deletion 16902084
nsv213952 CNV deletion 16902084
nsv214237 CNV insertion 16902084
nsv3149 CNV deletion 18451855
nsv442848 CNV loss 18776908
nsv460065 CNV loss 19166990
nsv460066 CNV loss 19166990
nsv460067 CNV gain 19166990
nsv460068 CNV loss 19166990
nsv460069 CNV loss 19166990
nsv460070 CNV loss 19166990
nsv460074 CNV loss 19166990
nsv460079 CNV loss 19166990
nsv470512 CNV loss 18288195
nsv470513 CNV loss 18288195
nsv475180 CNV novel sequence insertion 20440878
nsv478193 CNV novel sequence insertion 20440878
nsv507066 OTHER sequence alteration 20534489
nsv514117 CNV loss 21397061
nsv516174 CNV loss 19592680
nsv519556 CNV gain 19592680
nsv520702 CNV loss 19592680
nsv525127 CNV loss 19592680
nsv527162 CNV loss 19592680
nsv528570 CNV loss 19592680
nsv584314 CNV loss 21841781
nsv584315 CNV loss 21841781
nsv584316 CNV loss 21841781
nsv584317 CNV gain 21841781
nsv584320 CNV loss 21841781
nsv584321 CNV loss 21841781
nsv584322 CNV loss 21841781
nsv584323 CNV gain 21841781
nsv584324 CNV loss 21841781
nsv584340 CNV loss 21841781
nsv584342 CNV loss 21841781
nsv584343 CNV loss 21841781
nsv584346 CNV loss 21841781
nsv584347 CNV loss 21841781
nsv584393 CNV loss 21841781
nsv584398 CNV loss 21841781
nsv584404 CNV loss 21841781
nsv584421 CNV loss 21841781
nsv584422 CNV loss 21841781
nsv584423 CNV loss 21841781
nsv584424 CNV loss 21841781
nsv584425 CNV loss 21841781
nsv818108 CNV gain 17921354
nsv818109 CNV gain 17921354
nsv818110 CNV loss 17921354
nsv818113 CNV loss 17921354
nsv821892 CNV gain 20364138
nsv821893 CNV loss 20364138
nsv834523 CNV gain 17160897
nsv834525 CNV gain 17160897
nsv834526 CNV gain 17160897
nsv834527 CNV loss 17160897
nsv955039 CNV deletion 24416366
nsv961928 CNV duplication 23825009
nsv963773 CNV duplication 23825009
nsv979171 CNV duplication 23825009

Variation tolerance for ERBB4 Gene

Residual Variation Intolerance Score: 0.922% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERBB4 Gene

Human Gene Mutation Database (HGMD)
ERBB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERBB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERBB4 Gene

Disorders for ERBB4 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ERBB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 19
  • amyotrophic lateral sclerosis type 19
erbb4-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 19
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
vaginal carcinosarcoma
  • malignant vaginal mixed epithelial and mesenchymal tumor
vaginal adenosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search ERBB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERBB4_HUMAN
  • Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:24119685}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERBB4

Genetic Association Database (GAD)
ERBB4
Human Genome Epidemiology (HuGE) Navigator
ERBB4
Tumor Gene Database (TGDB):
ERBB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERBB4
genes like me logo Genes that share disorders with ERBB4: view

No data available for Genatlas for ERBB4 Gene

Publications for ERBB4 Gene

  1. Somatic mutations of ErbB4: selective loss-of-function phenotype affecting signal transduction pathways in cancer. (PMID: 19098003) Tvorogov D. … Elenius K. (J. Biol. Chem. 2009) 3 4 22 65
  2. WW domain containing E3 ubiquitin protein ligase 1 targets the full- length ErbB4 for ubiquitin-mediated degradation in breast cancer. (PMID: 19561640) Li Y. … Chen C. (Oncogene 2009) 3 4 22 65
  3. System-wide investigation of ErbB4 reveals 19 sites of Tyr phosphorylation that are unusually selective in their recruitment properties. (PMID: 18721752) Kaushansky A. … MacBeath G. (Chem. Biol. 2008) 3 4 22 65
  4. The involvement of ErbB4 with schizophrenia: association and expression studies. (PMID: 16402353) Silberberg G. … Navon R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 22 46 65
  5. Phosphorylation of ErbB4 on tyrosine 1056 is critical for ErbB4 coupling to inhibition of colony formation by human mammary cell lines. (PMID: 17120616) Pitfield S.E. … Riese D.J. II (Oncol. Res. 2006) 3 4 22 65

Products for ERBB4 Gene

Sources for ERBB4 Gene

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