Human Gene ERBB2 (ENST00000269571.10_4) from GENCODE V47lift37
  Description: erb-b2 receptor tyrosine kinase 2, transcript variant 1 (from RefSeq NM_004448.4)
Gencode Transcript: ENST00000269571.10_4
Gencode Gene: ENSG00000141736.14_12
Transcript (Including UTRs)
   Position: hg19 chr17:37,856,317-37,884,911 Size: 28,595 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr17:37,856,492-37,884,297 Size: 27,806 Coding Exon Count: 27 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:37,856,317-37,884,911)mRNA (may differ from genome)Protein (1255 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ERBB2
Diseases sorted by gene-association score: glioma susceptibility 1* (900), lung cancer* (448), lung cancer susceptibility 3* (424), ovarian cancer, somatic* (265), gastric cancer, somatic* (169), brca2 hereditary breast and ovarian cancer syndrome* (126), breast cancer* (112), brca1 hereditary breast and ovarian cancer syndrome* (111), glioblastoma (42), mammary paget's disease (33), breast ductal carcinoma (33), breast fibroadenoma (30), breast carcinoma in situ (26), gastroesophageal junction adenocarcinoma (24), adenocarcinoma (23), gastric adenocarcinoma (22), uterine carcinosarcoma (21), female breast cancer (21), endometrial cancer (20), ductal carcinoma in situ (20), hansen's disease (18), pre-malignant neoplasm (18), hidradenocarcinoma (18), breast disease (18), paget disease, extramammary (17), microglandular adenosis (17), estrogen-receptor negative breast cancer (16), uterine corpus cancer (16), lipid-rich carcinoma (16), comedo carcinoma (15), breast scirrhous carcinoma (15), her2-receptor positive breast cancer (14), ludwig's angina (14), fallopian tube carcinoma (14), her2-receptor negative breast cancer (14), breast papillomatosis (14), barrett's adenocarcinoma (13), salivary gland cancer (13), oral cavity cancer (13), nonseminomatous germ cell tumor (13), transitional cell carcinoma (13), progesterone-receptor positive breast cancer (13), bent bone dysplasia syndrome (13), glassy cell carcinoma of the cervix (13), breast adenocarcinoma (12), leukemia (12), squamous cell carcinoma (11), apocrine adenocarcinoma (11), papillary adenocarcinoma (11), breast metaplastic carcinoma (11), inflammatory breast carcinoma (11), estrogen-receptor positive breast cancer (11), gallbladder adenocarcinoma (11), stomach cancer (11), granulosa cell tumor of the ovary (10), progesterone-receptor negative breast cancer (10), thyroid carcinoma somatic (10), vulval paget's disease (10), intracystic papillary adenoma (10), glioma (10), breast intraductal proliferative lesion (10), breast osteosarcoma (10), scirrhous adenocarcinoma (10), luminal breast carcinoma (9), apocrine adenosis of breast (9), breast neuroendocrine neoplasm (9), papillary carcinoma (9), urinary bladder cancer (9), in situ carcinoma (9), sweat gland cancer (9), pleomorphic adenoma (9), bilateral breast cancer (9), bladder cancer, somatic (9), breast mucinous carcinoma (9), triple-receptor negative breast cancer (8), vulva adenocarcinoma (8), breast squamous cell carcinoma (8), tubular adenocarcinoma (8), breast medullary carcinoma (8), breast benign neoplasm (8), thoracic benign neoplasm (8), gallbladder cancer (8), fallopian tube adenocarcinoma (8), epispadias (8), worth's syndrome (8), gastric papillary adenocarcinoma (8), gallbladder squamous cell carcinoma (8), fallopian tube endometrioid adenocarcinoma (8), sporadic breast cancer (8), charcot-marie-tooth disease, type 1a (8), uterine corpus serous adenocarcinoma (7), ovary epithelial cancer (7), malignant ovarian surface epithelial-stromal neoplasm (7), ewing's family of tumors (7), wallerian degeneration (7), vulva basal cell carcinoma (7), tuberculous salpingitis (7), breast cystic hypersecretory carcinoma (7), cell type cancer (7), uterine body mixed cancer (7), cervical adenocarcinoma (7), oral leukoplakia (6), mixed cell type cancer (6), female reproductive organ cancer (6), prostate adenocarcinoma (6), pleomorphic adenoma carcinoma (6), esophagus adenocarcinoma (6), mucoepidermoid carcinoma (6), cholangiocarcinoma, susceptibility to (6), prostate cancer (6), endometrial adenocarcinoma (6), ovarian serous carcinoma (6), keratoconjunctivitis sicca (6), non-proliferative fibrocystic change of the breast (6), paraneoplastic cerebellar degeneration (6), pancreatic cancer (6), primary peritoneal carcinoma (6), breast papillary carcinoma (5), toxic optic neuropathy (5), lobular neoplasia (5), oncocytic breast carcinoma (5), exanthem (5), cribriform carcinoma (5), reproductive organ cancer (5), adamantinoma of long bones (5), small intestinal adenocarcinoma (5), breast secretory carcinoma (5), acneiform dermatitis (4), malignant melanoma, somatic (4), colorectal cancer (4), n syndrome (4), glioblastoma multiforme (4), breast adenoid cystic carcinoma (4), adenosquamous cell lung carcinoma (4), esophageal cancer (3), pancreatic ductal adenocarcinoma (3), medulloblastoma (3), squamous cell carcinoma, head and neck (2), leukocyte disease (1), gastrointestinal system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.71 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 916.33 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 -76.20175-0.435 Picture PostScript Text
3' UTR -229.60614-0.374 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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Descriptions from all associated GenBank mRNAs
  AK295195 - Homo sapiens cDNA FLJ59518 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-2 precursor (EC 2.7.10.1).
FW403753 - NUCLEIC ACID COMPOUNDS FOR INHIBITING ERBB FAMILY GENE EXPRESSION AND USES THEREOFF.
AB587321 - Synthetic construct DNA, clone: pF1KB3024, Homo sapiens ERBB2 gene for v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog, without stop codon, in Flexi system.
AK300321 - Homo sapiens cDNA FLJ59426 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-2 precursor (EC 2.7.10.1).
FW403752 - NUCLEIC ACID COMPOUNDS FOR INHIBITING ERBB FAMILY GENE EXPRESSION AND USES THEREOFF.
AK313683 - Homo sapiens cDNA, FLJ94272.
LF213774 - JP 2014500723-A/21277: Polycomb-Associated Non-Coding RNAs.
BC080193 - Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian), mRNA (cDNA clone IMAGE:6178526).
X03363 - Human c-erb-B-2 mRNA.
M11730 - Human tyrosine kinase-type receptor (HER2) mRNA, complete cds.
BC156755 - Synthetic construct Homo sapiens clone IMAGE:100062227, MGC:190211 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2) mRNA, encodes complete protein.
BC167147 - Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian), mRNA (cDNA clone MGC:166940 IMAGE:100013444), complete cds.
KJ534831 - Homo sapiens clone ERBB2_iso-A_adult-A05 v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2 isoform A (ERBB2) mRNA, partial cds, alternatively spliced.
KJ534832 - Homo sapiens clone ERBB2_iso-C_fetal-F08 v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2 isoform C (ERBB2) mRNA, partial cds, alternatively spliced.
KJ534964 - Homo sapiens clone ERBB2_iso-B_fetal-F09 v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2 isoform B (ERBB2) mRNA, partial cds, alternatively spliced.
AK131568 - Homo sapiens cDNA FLJ16821 fis, clone TRACH3021066.
MA449351 - JP 2018138019-A/21277: Polycomb-Associated Non-Coding RNAs.
AK309029 - Homo sapiens cDNA, FLJ99070.
BC110392 - Homo sapiens cDNA clone IMAGE:5195657.
CQ894022 - Sequence 22 from Patent WO2004087207.
CQ894024 - Sequence 24 from Patent WO2004087207.
CQ894026 - Sequence 26 from Patent WO2004087207.
CQ894028 - Sequence 28 from Patent WO2004087207.
JD442760 - Sequence 423784 from Patent EP1572962.
JD335030 - Sequence 316054 from Patent EP1572962.
JD456181 - Sequence 437205 from Patent EP1572962.
CQ894030 - Sequence 30 from Patent WO2004087207.
AF177761 - Homo sapiens herstatin (HER-2) mRNA, alternatively spliced, complete cds.
AK296908 - Homo sapiens cDNA FLJ55711 complete cds, highly similar to Receptor tyrosine-protein kinase erbB-2 precursor (EC 2.7.10.1).
BD404060 - WO 2003091433-A/31: Expression system for stem-loop shaped RNA molecules conferring RNAi.
DD115626 - Expression system for stem-loop shaped RNA molecules conferring RNAi.
BD404061 - WO 2003091433-A/32: Expression system for stem-loop shaped RNA molecules conferring RNAi.
DD115627 - Expression system for stem-loop shaped RNA molecules conferring RNAi.
BD404062 - WO 2003091433-A/33: Expression system for stem-loop shaped RNA molecules conferring RNAi.
DD115628 - Expression system for stem-loop shaped RNA molecules conferring RNAi.
BD404063 - WO 2003091433-A/34: Expression system for stem-loop shaped RNA molecules conferring RNAi.
DD115629 - Expression system for stem-loop shaped RNA molecules conferring RNAi.
HM437238 - Homo sapiens receptor tyrosine-protein kinase erbB-2 variant (ERBB2) mRNA, partial cds.
BD404064 - WO 2003091433-A/35: Expression system for stem-loop shaped RNA molecules conferring RNAi.
DD115630 - Expression system for stem-loop shaped RNA molecules conferring RNAi.
CQ873738 - Sequence 157 from Patent WO2004076622.
DD413575 - Regulation of Mammalian Cells.
JD188913 - Sequence 169937 from Patent EP1572962.
JD102675 - Sequence 83699 from Patent EP1572962.
JD205551 - Sequence 186575 from Patent EP1572962.
JD547356 - Sequence 528380 from Patent EP1572962.
JD168751 - Sequence 149775 from Patent EP1572962.
JD185678 - Sequence 166702 from Patent EP1572962.
JD282690 - Sequence 263714 from Patent EP1572962.
JD403813 - Sequence 384837 from Patent EP1572962.
JD331200 - Sequence 312224 from Patent EP1572962.
JD384296 - Sequence 365320 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology
h_tffPathway - Trefoil Factors Initiate Mucosal Healing

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000269571.1, ENST00000269571.2, ENST00000269571.3, ENST00000269571.4, ENST00000269571.5, ENST00000269571.6, ENST00000269571.7, ENST00000269571.8, ENST00000269571.9, ERBB2 , NM_004448, uc317irz.1, uc317irz.2, X5DNK3, X5DNK3_HUMAN
UCSC ID: ENST00000269571.10_4
RefSeq Accession: NM_004448.4

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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