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Erbb2 Gene Detail
Summary
  • Symbol
    Erbb2
  • Name
    erb-b2 receptor tyrosine kinase 2
  • Synonyms
    c-erbB2, c-neu, ErbB-2, HER-2, HER2, l11Jus8, mKIAA3023, Neu, Neu oncogene
  • Feature Type
    protein coding gene
  • IDs
    MGI:95410
    NCBI Gene: 13866
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:98303310-98328542 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 61.75 cM, cytoband D
  • Mapping Data
    27 experiments
Strain
Comparison
more
  • SNPs within 2kb
    635 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95410
protein coding gene Chr11:98303296-98328542 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019059
protein coding gene Chr11:100959307-100986296 (+)
A/J MGP_AJ_G0019027
protein coding gene Chr11:96759095-96784556 (+)
AKR/J MGP_AKRJ_G0018997
protein coding gene Chr11:99756155-99781385 (+)
BALB/cJ MGP_BALBcJ_G0019000
protein coding gene Chr11:97252494-97277752 (+)
C3H/HeJ MGP_C3HHeJ_G0018814
protein coding gene Chr11:99891341-99916442 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019453
protein coding gene Chr11:104040134-104071323 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017084
protein coding gene Chr11:94198025-94223180 (+)
CAST/EiJ MGP_CASTEiJ_G0018368
protein coding gene Chr11:100766369-100791533 (+)
CBA/J MGP_CBAJ_G0018785
protein coding gene Chr11:108352943-108380862 (+)
DBA/2J MGP_DBA2J_G0018893
protein coding gene Chr11:96301511-96326935 (+)
FVB/NJ MGP_FVBNJ_G0018882
protein coding gene Chr11:95810703-95835787 (+)
LP/J MGP_LPJ_G0018963
protein coding gene Chr11:101433551-101459943 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018909
protein coding gene Chr11:108147337-108173757 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019493
protein coding gene Chr11:100085130-100113473 (+)
PWK/PhJ MGP_PWKPhJ_G0018140
protein coding gene Chr11:97309219-97334608 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017930
protein coding gene Chr11:99789906-99815022 (+)
WSB/EiJ MGP_WSBEiJ_G0018418
protein coding gene Chr11:99999212-100027507 (+)



Homology
more
  • Human Ortholog
    ERBB2, erb-b2 receptor tyrosine kinase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERBB2, erb-b2 receptor tyrosine kinase 2
  • Synonyms
    CD340, c-ERB-2, c-ERB2, HER-2, HER2, HER-2/neu, MLN 19, MLN-19, NEU, NGL, p185(erbB2), TKR1, VSCN2
  • Links
    NCBI Gene ID: 2064
    neXtProt AC: NX_P04626
    UniProt: P04626

  • Chr Location
    17q12; chr17:39687914-39730426 (+)  GRCh38

Human Diseases
more
  • Diseases
    3 with Erbb2 mouse models; 9 with human ERBB2 associations

Human Disease Mouse Models
      
IDs
View 4 models
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 14 alleles in 16 genetic backgrounds
    46 phenotypes from multigenic genotypes
    122 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13866 NCBI Gene Model | MGI Sequence Detail 25233 C57BL/6J ±  kb
    transcript NM_001003817 RefSeq | MGI Sequence Detail 4998 ZRU/MplStud  
    polypeptide P70424 UniProt | EBI | MGI Sequence Detail 1256 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000002082 receptor tyrosine-protein kinase erbB-2
    • EC
    • InterPro Domains
      IPR049328 Epidermal growth factor receptor-like, transmembrane-juxtamembrane segment
      IPR006211 Furin-like cysteine-rich domain
      IPR006212 Furin-like repeat
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR032778 Growth factor receptor domain 4
      IPR017441 Protein kinase, ATP binding site
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR000494 Receptor L-domain
      IPR036941 Receptor L-domain superfamily
      IPR050122 Receptor Tyrosine Kinase
      IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
      IPR008266 Tyrosine-protein kinase, active site
      IPR020635 Tyrosine-protein kinase, catalytic domain
      IPR016245 Tyrosine protein kinase, EGF/ERB/XmrK receptor
    • GlyGen
      P70424 7 sites, 3 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 108
      Genomic 3
      cDNA 93
      Primer pair 7
      Other 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9571, MGD-MRK-9573, MGI:2671273
    References
    more
    • Summaries
      All 456
      Developmental Gene Expression 88
      Diseases 5
      Gene Ontology 45
      Phenotypes 122
    • Earliest
      J:32779 Schechter AL, et al., The neu oncogene: an erb-B-related gene encoding a 185,000-Mr tumour antigen. Nature. 1984 Dec 6-12;312(5994):513-6
    • Latest
      J:354189 Miao L, et al., beta1 integrins regulate cellular behaviour and cardiomyocyte organization during ventricular wall formation. Cardiovasc Res. 2024 Sep 21;120(11):1279-1294

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory