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Aliases for ERBB3 Gene

Aliases for ERBB3 Gene

  • Erb-B2 Receptor Tyrosine Kinase 3 2 3 5
  • V-Erb-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 3 2 3
  • Tyrosine Kinase-Type Cell Surface Receptor HER3 3 4
  • Human Epidermal Growth Factor Receptor 3 2 3
  • Proto-Oncogene-Like Protein C-ErbB-3 3 4
  • EC 2.7.10.1 4 56
  • HER3 3 4
  • Lethal Congenital Contracture Syndrome 2 2
  • Receptor Tyrosine-Protein Kinase ErbB-3 3
  • P180-ErbB3 3
  • P45-SErbB3 3
  • P85-SErbB3 3
  • EC 2.7.10 56
  • MDA-BF-1 3
  • C-ErbB-3 3
  • C-ErbB3 3
  • ErbB3-S 3
  • ErbB-3 3
  • LCCS2 3

External Ids for ERBB3 Gene

Previous HGNC Symbols for ERBB3 Gene

  • LCCS2

Previous GeneCards Identifiers for ERBB3 Gene

  • GC12M056386
  • GC12M056841
  • GC12P056190
  • GC12P054760
  • GC12P056473
  • GC12P053512

Summaries for ERBB3 Gene

Entrez Gene Summary for ERBB3 Gene

  • This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

CIViC summary for ERBB3 Gene

GeneCards Summary for ERBB3 Gene

ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3) is a Protein Coding gene. Diseases associated with ERBB3 include Lethal Congenital Contracture Syndrome 2 and Retroperitoneal Leiomyosarcoma. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is ERBB4.

UniProtKB/Swiss-Prot for ERBB3 Gene

  • Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134).

Tocris Summary for ERBB3 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 ERBB3 Gene

Additional gene information for ERBB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERBB3 Gene

Genomics for ERBB3 Gene

GeneHancer (GH) Regulatory Elements for ERBB3 Gene

Promoters and enhancers for ERBB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I056078 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.3 +1.4 1438 6.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 ZNF610 ERBB3 SUOX ANKRD52 RAB5B IKZF4 BAZ2A PHC1P1 ENSG00000257740 PAN2 SMARCC2
GH12I056045 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.3 -33.4 -33355 2.8 HDGF ATF1 ARID4B ZNF2 GTF3C2 ZNF143 ATF7 RUNX3 NCOA1 REST PMEL PAN2 GDF11 ANKRD52 PA2G4 ERBB3 RPL41 ZC3H10 IKZF4 SUOX
GH12I055982 Enhancer 0.8 Ensembl ENCODE 10.5 -97.1 -97081 0.9 SMARCA5 MAX ZMYM3 EBF1 ZNF121 POLR2A IKZF1 NFE2 MYC BCLAF1 LOC100131294 IKZF4 CD63 GDF11 PMEL ERBB3 PA2G4 ZC3H10 RPL41 SARNP
GH12I055983 Enhancer 0.6 ENCODE 10.5 -96.3 -96265 0.2 MAFG ZNF316 MAFF IKZF1 HMBOX1 NFE2 EMSY MAFK IKZF4 ERBB3 LOC100131294 RAB5B GC12P055992
GH12I056040 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.3 -37.9 -37858 3.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS26 LOC105369780 BAZ2A RN7SL809P STAT2 PAN2 ENSG00000258199 ZC3H10 CDK2 ENSG00000257740
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERBB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERBB3 gene promoter:

Genomic Locations for ERBB3 Gene

Genomic Locations for ERBB3 Gene
chr12:56,079,857-56,103,507
(GRCh38/hg38)
Size:
23,651 bases
Orientation:
Plus strand
chr12:56,473,641-56,497,291
(GRCh37/hg19)

Genomic View for ERBB3 Gene

Genes around ERBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERBB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERBB3 Gene

Proteins for ERBB3 Gene

  • Protein details for ERBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21860-ERBB3_HUMAN
    Recommended name:
    Receptor tyrosine-protein kinase erbB-3
    Protein Accession:
    P21860
    Secondary Accessions:
    • A8K6L6
    • B4DIK7
    • B4DV32
    • E9PDT8
    • Q9BUD7

    Protein attributes for ERBB3 Gene

    Size:
    1342 amino acids
    Molecular mass:
    148098 Da
    Quaternary structure:
    • Monomer and homodimer. Heterodimer with each of the other ERBB receptors (Potential). Interacts with CSPG5 (PubMed:15358134). Interacts with GRB7 (PubMed:9516479). Interacts with MUC1 (PubMed:12939402). Interacts with MYOC (By similarity). Interacts with isoform 2 of PA2G4 (PubMed:11325528, PubMed:16832058). Found in a ternary complex with NRG1 and ITGAV:ITGB3 or ITGA6:ITGB4 (PubMed:20682778).

    Three dimensional structures from OCA and Proteopedia for ERBB3 Gene

    Alternative splice isoforms for ERBB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERBB3 Gene

Selected DME Specific Peptides for ERBB3 Gene

P21860:
  • CPHNFVVD
  • QTVDSSNID
  • MVKCWMID
  • SLQLVTQ
  • SDVWSYGVT
  • DTDCFAC
  • CFSCHPEC
  • CEVVMGNLEI
  • FNDSGACVPRCP
  • AARNVLL
  • VCDPLCS
  • SLKEISAG
  • MARDPPRYLVI
  • YGVTVWE
  • REVTGYVLVA
  • KETELRK
  • PLVYNKLTFQLEPNPH
  • YTHQSDVWS
  • AFDNPDYW
  • TCNGSGS
  • LNIQSWPP
  • ECAGGCSGP

Post-translational modifications for ERBB3 Gene

  • Autophosphorylated (PubMed:20351256). Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778).
  • Glycosylation at posLast=126126, Asn250, Asn353, Asn408, Asn414, posLast=437437, posLast=469469, Asn522, Asn566, and posLast=616616

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERBB3 (HER3)
  • Abcam antibodies for ERBB3

Domains & Families for ERBB3 Gene

Gene Families for ERBB3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P21860

UniProtKB/Swiss-Prot:

ERBB3_HUMAN :
  • The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Domain:
  • The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many signal-transducing proteins.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
genes like me logo Genes that share domains with ERBB3: view

Function for ERBB3 Gene

Molecular function for ERBB3 Gene

GENATLAS Biochemistry:
avian erythroblastic leukemia,viral (v-erb-b) oncogene homolog 3,heregulin beta 1 receptor,signal transducer receptor,heterodimerizing with the ligand less recetpor ERBB2
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134).

Enzyme Numbers (IUBMB) for ERBB3 Gene

Phenotypes From GWAS Catalog for ERBB3 Gene

Gene Ontology (GO) - Molecular Function for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0004888 transmembrane signaling receptor activity ISS 7514177
genes like me logo Genes that share ontologies with ERBB3: view
genes like me logo Genes that share phenotypes with ERBB3: view

Human Phenotype Ontology for ERBB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERBB3 Gene

MGI Knock Outs for ERBB3:

Clone Products

  • Addgene plasmids for ERBB3

No data available for Transcription Factor Targets and HOMER Transcription for ERBB3 Gene

Localization for ERBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERBB3 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERBB3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11389077
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS 17701904
GO:0005887 integral component of plasma membrane TAS 2687875
genes like me logo Genes that share ontologies with ERBB3: view

Pathways & Interactions for ERBB3 Gene

SuperPathways for ERBB3 Gene

SuperPathway Contained pathways
1 RET signaling
2 GPCR Pathway
3 PI3K/AKT activation
4 Signaling by ERBB2
5 ERK Signaling
genes like me logo Genes that share pathways with ERBB3: view

SIGNOR curated interactions for ERBB3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ERBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0003197 endocardial cushion development IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007162 negative regulation of cell adhesion IDA 7556068
GO:0007165 signal transduction IDA 10572067
genes like me logo Genes that share ontologies with ERBB3: view

Drugs & Compounds for ERBB3 Gene

(55) Drugs for ERBB3 Gene - From: ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, 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 374
Poziotinib Investigational Pharma inhibitor irreversible pan-HER inhibitor 0
ATP Investigational Nutra Agonist 0
Momelotinib Investigational Pharma Inhibitor Epidermal growth factor receptor (EGFR) inhibitors 0
Sapitinib Investigational Pharma 0

(20) Additional Compounds for ERBB3 Gene - From: Novoseek, Tocris, and HMDB

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
CP 724714
383432-38-0

(4) Tocris Compounds for ERBB3 Gene

Compound Action Cas Number
AG 490 EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor 133550-30-8
CGP 52411 EGFR inhibitor. Also inhibits Abeta42 fibril formation 145915-58-8
CP 724714 Potent and selective ErbB2 inhibitor 383432-38-0
Genistein EGFR kinase inhibitor. Also estrogen and PPARgamma ligand 446-72-0

(3) ApexBio Compounds for ERBB3 Gene

Compound Action Cas Number
AZD8931 (Sapitinib) ErbB inhibitor 848942-61-0
Poziotinib irreversible pan-HER inhibitor 1092364-38-9
Varlitinib (ARRY334543) ErbB inhibitor 845272-21-1
genes like me logo Genes that share compounds with ERBB3: view

Drug Products

Transcripts for ERBB3 Gene

Unigene Clusters for ERBB3 Gene

V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian):
Representative Sequences:

Clone Products

  • Addgene plasmids for ERBB3

Alternative Splicing Database (ASD) splice patterns (SP) for ERBB3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^
SP1: - - - -
SP2: - -
SP3:
SP4: - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10: -
SP11:
SP12:

ExUns: 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29
SP1: - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for ERBB3 Gene

GeneLoc Exon Structure for
ERBB3
ECgene alternative splicing isoforms for
ERBB3

Expression for ERBB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERBB3 Gene

This gene is overexpressed in Testis (26.0), Lung (22.4), Saliva (8.7), and Pancreas (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERBB3 Gene



Protein tissue co-expression partners for ERBB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERBB3 Gene:

ERBB3

SOURCE GeneReport for Unigene cluster for ERBB3 Gene:

Hs.118681

mRNA Expression by UniProt/SwissProt for ERBB3 Gene:

P21860-ERBB3_HUMAN
Tissue specificity: Epithelial tissues and brain.

Evidence on tissue expression from TISSUES for ERBB3 Gene

  • Nervous system(4.9)
  • Intestine(4.8)
  • Skin(4.6)
  • Liver(4.5)
  • Lung(2.9)
  • Stomach(2.4)
  • Kidney(2.3)
  • Pancreas(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERBB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • lung
Abdomen:
  • kidney
Pelvis:
  • placenta
  • ureter
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ERBB3: view

No data available for mRNA differential expression in normal tissues for ERBB3 Gene

Orthologs for ERBB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERBB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERBB3 33
  • 99.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ERBB3 33 34
  • 90.76 (n)
cow
(Bos Taurus)
Mammalia ERBB3 33 34
  • 90.34 (n)
rat
(Rattus norvegicus)
Mammalia Erbb3 33
  • 87.3 (n)
oppossum
(Monodelphis domestica)
Mammalia ERBB3 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erbb3 33 16 34
  • 86.97 (n)
chicken
(Gallus gallus)
Aves ERBB3 33
  • 68.6 (n)
lizard
(Anolis carolinensis)
Reptilia ERBB3 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erbb3 33
  • 62.24 (n)
zebrafish
(Danio rerio)
Actinopterygii erbb3a 34
  • 50 (a)
OneToMany
erbb3b 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Egfr 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea let-23 35
  • 28 (a)
Species where no ortholog for ERBB3 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 ERBB3 Gene

ENSEMBL:
Gene Tree for ERBB3 (if available)
TreeFam:
Gene Tree for ERBB3 (if available)

Paralogs for ERBB3 Gene

Paralogs for ERBB3 Gene

genes like me logo Genes that share paralogs with ERBB3: view

Variants for ERBB3 Gene

Sequence variations from dbSNP and Humsavar for ERBB3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1057519803 likely-pathogenic, Colonic Neoplasms, Neoplasm of stomach 56,088,138(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519817 likely-pathogenic, Neoplasm 56,088,073(+) C/A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519891 likely-pathogenic, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Adenocarcinoma of stomach, Transitional cell carcinoma of the bladder, Neoplasm of the breast 56,088,557(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519892 likely-pathogenic, Transitional cell carcinoma of the bladder, Adenocarcinoma of stomach, Neoplasm of the breast, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus 56,088,558(+) A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519893 likely-pathogenic, Adenocarcinoma of stomach, Uterine Carcinosarcoma, Uterine cervical neoplasms, Neoplasm of the breast, Colorectal Neoplasms, Malignant neoplasm of body of uterus, Transitional cell carcinoma of the bladder, Carcinoma of gallbladder 56,085,070(+) G/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ERBB3 Gene

Variant ID Type Subtype PubMed ID
esv1499550 CNV insertion 17803354
esv275479 CNV gain+loss 21479260
nsv1051961 CNV gain 25217958
nsv1120091 OTHER inversion 24896259
nsv1122738 CNV deletion 24896259
nsv832427 CNV loss 17160897

Variation tolerance for ERBB3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERBB3 Gene

Human Gene Mutation Database (HGMD)
ERBB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERBB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERBB3 Gene

Disorders for ERBB3 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ERBB3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 2
  • lccs2
retroperitoneal leiomyosarcoma
ovary transitional cell carcinoma
  • malignant ovarian transitional cell neoplasm
childhood medulloblastoma
  • pediatric medulloblastoma
gestational trophoblastic tumor
  • gestational trophoblastic disease
- elite association - COSMIC cancer census association via MalaCards
Search ERBB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERBB3_HUMAN
  • 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:0000269 PubMed:17701904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERBB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERBB3: view

No data available for Genatlas for ERBB3 Gene

Publications for ERBB3 Gene

  1. No association between the ERBB3 gene and schizophrenia in a Japanese population. (PMID: 17275115) Watanabe Y … Someya T (Neuroscience research 2007) 3 22 44 58
  2. c-erbB3 gene encodes secreted as well as transmembrane receptor tyrosine kinase. (PMID: 7685162) Katoh M … Terada M (Biochemical and biophysical research communications 1993) 3 4 22 58
  3. Spatial structure and dimer--monomer equilibrium of the ErbB3 transmembrane domain in DPC micelles. (PMID: 21575594) Mineev KS … Arseniev AS (Biochimica et biophysica acta 2011) 3 4 58
  4. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PMID: 21829393) Plagnol V … Todd JA (PLoS genetics 2011) 3 44 58
  5. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 44 58

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