Human Gene ERBB3 (ENST00000549832.1) Description and Page Index
  Description: erb-b2 receptor tyrosine kinase 3 (from HGNC ERBB3)
RefSeq Summary (NM_001982): 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].
Gencode Transcript: ENST00000549832.1
Gencode Gene: ENSG00000065361.15
Transcript (Including UTRs)
   Position: hg38 chr12:56,098,251-56,103,499 Size: 5,249 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr12:56,098,707-56,102,055 Size: 3,349 Coding Exon Count: 6 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:56,098,251-56,103,499)mRNA (may differ from genome)Protein (462 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: ERBB3
Diseases sorted by gene-association score: lethal congenital contractural syndrome 2* (1365), retroperitoneal leiomyosarcoma (22), ovary transitional cell carcinoma (16), lethal congenital contracture syndrome (15), childhood medulloblastoma (13), gestational trophoblastic tumor (11), clear cell sarcoma (9), bartholin's gland benign neoplasm (9), breast cancer (8), charcot-marie-tooth disease, type 1a (7), lung cancer (7), neurogenic bladder (7), keratoconjunctivitis sicca (6), luminal breast carcinoma (5), pilocytic astrocytoma (5), mesenteric lymphadenitis (5), breast abscess (5), appendix adenocarcinoma (4), palindromic rheumatism (4), ovarian cancer, somatic (2), pancreatic cancer (2), colorectal cancer (2), prostate cancer (2), lung cancer susceptibility 3 (1), squamous cell carcinoma, head and neck (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.60 RPKM in Nerve - Tibial
Total median expression: 459.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.10456-0.312 Picture PostScript Text
3' UTR -400.401444-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom

Pfam Domains:
PF07714 - Protein tyrosine kinase

ModBase Predicted Comparative 3D Structure on B3KWG5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004672 protein kinase activity
GO:0016301 kinase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0016310 phosphorylation


-  Descriptions from all associated GenBank mRNAs
  M34309 - Human epidermal growth factor receptor (HER3) mRNA, complete cds.
FW403754 - NUCLEIC ACID COMPOUNDS FOR INHIBITING ERBB FAMILY GENE EXPRESSION AND USES THEREOFF.
AK300909 - Homo sapiens cDNA FLJ53210 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-3 precursor (EC 2.7.10.1).
AK294719 - Homo sapiens cDNA FLJ59207 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-3 precursor (EC 2.7.10.1).
AK291681 - Homo sapiens cDNA FLJ76884 complete cds, highly similar to Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.
BC082992 - Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian), mRNA (cDNA clone MGC:88033 IMAGE:6147464), complete cds.
M29366 - Human epidermal growth factor receptor (ERBB3) mRNA, complete cds.
BC002706 - Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian), mRNA (cDNA clone IMAGE:3629646), complete cds.
LF213765 - JP 2014500723-A/21268: Polycomb-Associated Non-Coding RNAs.
MA449342 - JP 2018138019-A/21268: Polycomb-Associated Non-Coding RNAs.
AK295650 - Homo sapiens cDNA FLJ55330 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-3 precursor (EC 2.7.10.1).
BC041579 - Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian), mRNA (cDNA clone IMAGE:4645144).
AK124710 - Homo sapiens cDNA FLJ42720 fis, clone BRAMY4000095, highly similar to Receptor tyrosine-protein kinase erbB-3 precursor (EC 2.7.10.1).
AK125028 - Homo sapiens cDNA FLJ43038 fis, clone BRTHA3002955, highly similar to Receptor tyrosine-protein kinase erbB-3 precursor (EC 2.7.10.1).
LF208962 - JP 2014500723-A/16465: Polycomb-Associated Non-Coding RNAs.
MA444539 - JP 2018138019-A/16465: Polycomb-Associated Non-Coding RNAs.
LF324492 - JP 2014500723-A/131995: Polycomb-Associated Non-Coding RNAs.
MA560069 - JP 2018138019-A/131995: Polycomb-Associated Non-Coding RNAs.
LF324491 - JP 2014500723-A/131994: Polycomb-Associated Non-Coding RNAs.
MA560068 - JP 2018138019-A/131994: Polycomb-Associated Non-Coding RNAs.
JD325211 - Sequence 306235 from Patent EP1572962.
JD219245 - Sequence 200269 from Patent EP1572962.
JD224497 - Sequence 205521 from Patent EP1572962.
JD239968 - Sequence 220992 from Patent EP1572962.
JD056461 - Sequence 37485 from Patent EP1572962.
JD487464 - Sequence 468488 from Patent EP1572962.
JD387498 - Sequence 368522 from Patent EP1572962.
JD166833 - Sequence 147857 from Patent EP1572962.
JD120022 - Sequence 101046 from Patent EP1572962.
JD556532 - Sequence 537556 from Patent EP1572962.
JD400520 - Sequence 381544 from Patent EP1572962.
JD170260 - Sequence 151284 from Patent EP1572962.
JD103514 - Sequence 84538 from Patent EP1572962.
JD062269 - Sequence 43293 from Patent EP1572962.
JD279751 - Sequence 260775 from Patent EP1572962.
JD302857 - Sequence 283881 from Patent EP1572962.
JD328419 - Sequence 309443 from Patent EP1572962.
JD421418 - Sequence 402442 from Patent EP1572962.
JD421391 - Sequence 402415 from Patent EP1572962.
JD178878 - Sequence 159902 from Patent EP1572962.
JD181588 - Sequence 162612 from Patent EP1572962.
JD081889 - Sequence 62913 from Patent EP1572962.
JD564484 - Sequence 545508 from Patent EP1572962.
JD558375 - Sequence 539399 from Patent EP1572962.
JD319759 - Sequence 300783 from Patent EP1572962.
JD045125 - Sequence 26149 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04020 - Calcium signaling pathway
hsa04144 - Endocytosis

BioCarta from NCI Cancer Genome Anatomy Project
h_ErbB3Pathway - Neuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling
h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology

-  Other Names for This Gene
  Alternate Gene Symbols: AK125028, B3KWG5, B3KWG5_HUMAN, uc001sjl.1, uc001sjl.2, uc001sjl.3, uc001sjl.4
UCSC ID: uc001sjl.4
RefSeq Accession: NM_001982
Protein: B3KWG5

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.