ERBB3 (erb-b2 receptor tyrosine kinase 3) - Rat Genome Database

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Gene: ERBB3 (erb-b2 receptor tyrosine kinase 3) Homo sapiens
Analyze
Symbol: ERBB3
Name: erb-b2 receptor tyrosine kinase 3
RGD ID: 733426
HGNC Page HGNC
Description: Enables several functions, including ErbB-3 class receptor binding activity; neuregulin binding activity; and protein heterodimerization activity. Involved in several processes, including extrinsic apoptotic signaling pathway in absence of ligand; phosphatidylinositol 3-kinase signaling; and positive regulation of protein tyrosine kinase activity. Located in basolateral plasma membrane and extracellular space. Part of ERBB3:ERBB2 complex. Implicated in lethal congenital contracture syndrome 2; lung adenocarcinoma; and lung non-small cell carcinoma. Biomarker of carcinoma (multiple); ductal carcinoma in situ; prostate cancer; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: avian erythroblastosis oncogene b 3; c-erbB-3; c-erbB3; ErbB-3; erbB3-S; FERLK; HER3; human epidermal growth factor receptor 3; LCCS2; MDA-BF-1; MGC88033; p180-ErbB3; p45-sErbB3; p85-sErbB3; proto-oncogene-like protein c-ErbB-3; receptor tyrosine-protein kinase erbB-3; tyrosine kinase-type cell surface receptor HER3; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3; VSCN1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1256,076,799 - 56,103,505 (+)EnsemblGRCh38hg38GRCh38
GRCh381256,080,108 - 56,103,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371256,473,892 - 56,497,289 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,760,159 - 54,783,395 (+)NCBINCBI36hg18NCBI36
Build 341254,760,158 - 54,783,395NCBI
Celera1256,125,560 - 56,149,315 (+)NCBI
Cytogenetic Map12q13.2NCBI
HuRef1253,512,788 - 53,536,430 (+)NCBIHuRef
CHM1_11256,441,254 - 56,464,656 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4'-epidoxorubicin  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aldrin  (EXP)
all-trans-retinoic acid  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
capecitabine  (EXP)
captan  (ISO)
carbamazepine  (EXP)
casticin  (EXP)
chloroquine  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
clothianidin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
daunorubicin  (EXP)
DDD  (EXP)
DDE  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxifluridine  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fisetin  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
glucose  (ISO)
glycidol  (ISO)
hydrogen sulfide  (ISO)
L-methionine  (ISO)
lapatinib  (EXP)
lead diacetate  (EXP)
linuron  (ISO)
lithium chloride  (EXP)
LY294002  (EXP)
menadione  (EXP)
metformin  (ISO)
mitomycin C  (EXP)
mitoxantrone  (EXP)
monosodium L-glutamate  (ISO)
N-acetylcysteamine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tephrosin  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tunicamycin  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axonogenesis  (ISO)
cellular response to insulin stimulus  (ISO)
circadian rhythm  (ISO)
cranial nerve development  (ISO,ISS)
endocardial cushion development  (IEA,ISO)
epidermal growth factor receptor signaling pathway  (ISO)
extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
heart development  (ISS)
mammary gland involution  (ISO)
negative regulation of cell adhesion  (IDA)
negative regulation of neuron apoptotic process  (ISO,ISS)
negative regulation of secretion  (IDA)
negative regulation of signal transduction  (IDA)
nervous system development  (IBA)
neuron apoptotic process  (IMP)
odontogenesis  (ISO)
peptidyl-tyrosine phosphorylation  (IEA)
peripheral nervous system development  (ISO,ISS)
phosphatidylinositol 3-kinase signaling  (IDA)
positive regulation of calcineurin-NFAT signaling cascade  (IEA,ISO)
positive regulation of cardiac muscle tissue development  (IEA,ISO)
positive regulation of cell population proliferation  (IBA)
positive regulation of gene expression  (IEA,ISO)
positive regulation of glucose import  (ISO)
positive regulation of kinase activity  (IBA)
positive regulation of phosphatidylinositol 3-kinase signaling  (TAS)
positive regulation of protein tyrosine kinase activity  (IMP)
protein phosphorylation  (IEA)
regulation of cell population proliferation  (IDA)
response to wounding  (ISO)
response to xenobiotic stimulus  (ISO)
Schwann cell differentiation  (ISO,ISS)
signal transduction  (IDA)
skeletal muscle tissue development  (ISO)
tongue development  (ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA,ISS)
wound healing  (NAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Acute myeloid leukemia  (IAGP)
Adducted thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Akinesia  (IAGP)
Anemia  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Colonic diverticula  (IAGP)
Constipation  (IAGP)
Decreased fetal movement  (IAGP)
Degenerative vitreoretinopathy  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysarthria  (IAGP)
Edema  (IAGP)
Episodic abdominal pain  (IAGP)
Erythroid hyperplasia  (IAGP)
Failure to thrive in infancy  (IAGP)
Functional intestinal obstruction  (IAGP)
Gait ataxia  (IAGP)
Hepatomegaly  (IAGP)
High myopia  (IAGP)
Hydronephrosis  (IAGP)
Impaired vibratory sensation  (IAGP)
Incomplete penetrance  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Micrognathia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Polyhydramnios  (IAGP)
Prostate cancer  (IAGP)
Refractory anemia with ringed sideroblasts  (IAGP)
Respiratory failure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Ventricular septal defect  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
References

References - curated
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14. Fuchs I, etal., Anticancer Res. 2007 Mar-Apr;27(2):959-63.
15. GOA_HUMAN data from the GO Consortium
16. Ito Y, etal., Br J Cancer. 2001 May 18;84(10):1377-83. doi: 10.1054/bjoc.2000.1580.
17. Junttila TT, etal., Clin Cancer Res. 2003 Nov 1;9(14):5346-57.
18. Kalemi TG, etal., Anticancer Res. 2007 Mar-Apr;27(2):913-20.
19. Koumakpayi IH, etal., BJU Int. 2007 Aug;100(2):303-9. Epub 2007 May 26.
20. Kountourakis P, etal., BMC Cancer. 2006 Feb 28;6:46. doi: 10.1186/1471-2407-6-46.
21. Lai WW, etal., Ann Thorac Surg. 2001 Dec;72(6):1868-76. doi: 10.1016/s0003-4975(01)03207-6.
22. Li M, etal., Nat Genet. 2014 Aug;46(8):872-6. doi: 10.1038/ng.3030. Epub 2014 Jul 6.
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30. OMIM Disease Annotation Pipeline
31. Pipeline to import KEGG annotations from KEGG into RGD
32. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
33. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. RGD automated import pipeline for gene-chemical interactions
35. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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Additional References at PubMed
PMID:2164210   PMID:2687875   PMID:7514177   PMID:7538656   PMID:7556068   PMID:7592681   PMID:7656248   PMID:7685162   PMID:7689552   PMID:7847801   PMID:8188716   PMID:8665853  
PMID:8669836   PMID:8702572   PMID:8816440   PMID:8889548   PMID:9019162   PMID:9130710   PMID:9168114   PMID:9168115   PMID:9516479   PMID:9565587   PMID:9681822   PMID:9694850  
PMID:9756944   PMID:10095121   PMID:10383151   PMID:10527633   PMID:10559227   PMID:10572067   PMID:10682683   PMID:10710290   PMID:10799311   PMID:10913256   PMID:11114724   PMID:11166154  
PMID:11173924   PMID:11189010   PMID:11278868   PMID:11325528   PMID:11326315   PMID:11337467   PMID:11389077   PMID:11546794   PMID:11555649   PMID:11694521   PMID:11708806   PMID:11807823  
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PMID:12646923   PMID:12768307   PMID:12789268   PMID:12824184   PMID:12840049   PMID:12853564   PMID:12888923   PMID:12896906   PMID:12939402   PMID:14576349   PMID:14647450   PMID:14702039  
PMID:14737100   PMID:15141384   PMID:15162166   PMID:15225657   PMID:15282549   PMID:15358134   PMID:15378541   PMID:15489334   PMID:15498868   PMID:15499613   PMID:15504738   PMID:15520002  
PMID:15583694   PMID:15611073   PMID:15688028   PMID:15704104   PMID:15731393   PMID:15812817   PMID:15862947   PMID:15914029   PMID:16143043   PMID:16169070   PMID:16199884   PMID:16273093  
PMID:16307437   PMID:16341674   PMID:16401639   PMID:16622439   PMID:16675564   PMID:16690615   PMID:16729043   PMID:16832058   PMID:16843263   PMID:16867224   PMID:16896310   PMID:16958035  
PMID:17148612   PMID:17177598   PMID:17203234   PMID:17210635   PMID:17275115   PMID:17384230   PMID:17426253   PMID:17463250   PMID:17554260   PMID:17554300   PMID:17627612   PMID:17631905  
PMID:17638862   PMID:17652160   PMID:17671674   PMID:17697999   PMID:17701904   PMID:17823122   PMID:17969526   PMID:18024331   PMID:18036567   PMID:18056992   PMID:18172732   PMID:18198356  
PMID:18231572   PMID:18270579   PMID:18381441   PMID:18398842   PMID:18424286   PMID:18426980   PMID:18593762   PMID:18625725   PMID:18632642   PMID:18698037   PMID:18700973   PMID:18768436  
PMID:18799465   PMID:18803287   PMID:18803307   PMID:18852121   PMID:18940880   PMID:18942860   PMID:18978792   PMID:18985033   PMID:19037095   PMID:19047113   PMID:19060928   PMID:19073967  
PMID:19148499   PMID:19240061   PMID:19288496   PMID:19367581   PMID:19390858   PMID:19411071   PMID:19430480   PMID:19447869   PMID:19481955   PMID:19497323   PMID:19609946   PMID:19622585  
PMID:19648825   PMID:19659570   PMID:19737968   PMID:19797898   PMID:19878579   PMID:19913121   PMID:19951419   PMID:19995212   PMID:20007781   PMID:20029029   PMID:20038315   PMID:20064929  
PMID:20103628   PMID:20203524   PMID:20204273   PMID:20227043   PMID:20351256   PMID:20446891   PMID:20467331   PMID:20537867   PMID:20549515   PMID:20581867   PMID:20586186   PMID:20587519  
PMID:20589763   PMID:20604919   PMID:20626753   PMID:20628057   PMID:20628086   PMID:20628624   PMID:20647273   PMID:20647770   PMID:20661224   PMID:20668683   PMID:20682778   PMID:20695834  
PMID:20695903   PMID:20726858   PMID:20800603   PMID:20824716   PMID:20881644   PMID:20951118   PMID:20962850   PMID:21075308   PMID:21109951   PMID:21203579   PMID:21203803   PMID:21246584  
PMID:21278786   PMID:21320340   PMID:21385943   PMID:21391216   PMID:21407808   PMID:21438025   PMID:21484789   PMID:21575594   PMID:21576364   PMID:21622572   PMID:21638049   PMID:21725367  
PMID:21741919   PMID:21792199   PMID:21801427   PMID:21829393   PMID:21873635   PMID:21877752   PMID:21918175   PMID:21930127   PMID:21939528   PMID:22213458   PMID:22248472   PMID:22261253  
PMID:22262199   PMID:22274864   PMID:22301547   PMID:22327010   PMID:22436610   PMID:22439932   PMID:22484852   PMID:22552284   PMID:22554477   PMID:22562124   PMID:22733765   PMID:22806884  
PMID:22815787   PMID:22848366   PMID:22853430   PMID:22854050   PMID:22891299   PMID:22939624   PMID:22951725   PMID:22973453   PMID:22983903   PMID:22989054   PMID:23052372   PMID:23060569  
PMID:23062209   PMID:23135478   PMID:23137868   PMID:23146892   PMID:23213231   PMID:23251661   PMID:23320098   PMID:23328545   PMID:23333248   PMID:23382219   PMID:23395558   PMID:23436906  
PMID:23468880   PMID:23480537   PMID:23504322   PMID:23541807   PMID:23543055   PMID:23611113   PMID:23617461   PMID:23680147   PMID:23688700   PMID:23698633   PMID:23700486   PMID:23723069  
PMID:23758840   PMID:23780344   PMID:23792093   PMID:23835063   PMID:23843458   PMID:23846916   PMID:23866081   PMID:23937725   PMID:23951180   PMID:23990774   PMID:23991224   PMID:23991962  
PMID:23998444   PMID:23999432   PMID:24014028   PMID:24036211   PMID:24044505   PMID:24084886   PMID:24097984   PMID:24138610   PMID:24189400   PMID:24282274   PMID:24300455   PMID:24346286  
PMID:24449784   PMID:24467768   PMID:24519943   PMID:24557338   PMID:24623015   PMID:24658140   PMID:24662824   PMID:24667376   PMID:24678002   PMID:24692179   PMID:24706169   PMID:24747692  
PMID:24901400   PMID:24909170   PMID:24909266   PMID:24970817   PMID:24973425   PMID:25017122   PMID:25017791   PMID:25046105   PMID:25112701   PMID:25201988   PMID:25241146   PMID:25241761  
PMID:25248370   PMID:25249538   PMID:25249545   PMID:25315821   PMID:25326665   PMID:25367220   PMID:25400108   PMID:25400118   PMID:25416285   PMID:25451255   PMID:25468994   PMID:25468996  
PMID:25471734   PMID:25530448   PMID:25588832   PMID:25596284   PMID:25630670   PMID:25658697   PMID:25731189   PMID:25739551   PMID:25798835   PMID:25876877   PMID:25889637   PMID:25898135  
PMID:25912128   PMID:25915155   PMID:25993617   PMID:26021752   PMID:26034219   PMID:26035354   PMID:26073080   PMID:26116360   PMID:26138066   PMID:26148232   PMID:26160848   PMID:26167880  
PMID:26186194   PMID:26195293   PMID:26206558   PMID:26208475   PMID:26208478   PMID:26261492   PMID:26269601   PMID:26287187   PMID:26310543   PMID:26367378   PMID:26372697   PMID:26378253  
PMID:26438156   PMID:26450151   PMID:26482609   PMID:26490994   PMID:26496879   PMID:26517355   PMID:26534963   PMID:26595521   PMID:26595522   PMID:26612725   PMID:26621843   PMID:26648299  
PMID:26678909   PMID:26687479   PMID:26689995   PMID:26719328   PMID:26770651   PMID:26804171   PMID:26844548   PMID:26846102   PMID:26860947   PMID:26862736   PMID:26863446   PMID:26863569  
PMID:26886748   PMID:26934000   PMID:26942872   PMID:26963794   PMID:26975582   PMID:27035903   PMID:27069134   PMID:27070783   PMID:27188722   PMID:27191720   PMID:27317872   PMID:27353365  
PMID:27358485   PMID:27405979   PMID:27416908   PMID:27447549   PMID:27514687   PMID:27517321   PMID:27536774   PMID:27559738   PMID:27582551   PMID:27633099   PMID:27756321   PMID:27793840  
PMID:27872189   PMID:27906180   PMID:27913862   PMID:27941874   PMID:27986750   PMID:28031425   PMID:28036286   PMID:28065597   PMID:28114269   PMID:28248115   PMID:28319085   PMID:28320942  
PMID:28440478   PMID:28450158   PMID:28507002   PMID:28514442   PMID:28653892   PMID:28656214   PMID:28675388   PMID:28800792   PMID:28805349   PMID:28851073   PMID:28867611   PMID:28910149  
PMID:28940194   PMID:28963699   PMID:28988771   PMID:29048656   PMID:29109006   PMID:29138285   PMID:29233126   PMID:29255171   PMID:29286064   PMID:29325454   PMID:29338072   PMID:29413684  
PMID:29473311   PMID:29556616   PMID:29654069   PMID:29683256   PMID:29880014   PMID:29959202   PMID:30068375   PMID:30083275   PMID:30173251   PMID:30249613   PMID:30259607   PMID:30302022  
PMID:30343534   PMID:30367623   PMID:30421568   PMID:30523157   PMID:30556879   PMID:30593826   PMID:30639369   PMID:30862715   PMID:30898150   PMID:30914429   PMID:30915908   PMID:31092882  
PMID:31233741   PMID:31400925   PMID:31443721   PMID:31467911   PMID:31519989   PMID:31728045   PMID:31932682   PMID:31976761   PMID:31980649   PMID:32029900   PMID:32075258   PMID:32080212  
PMID:32107308   PMID:32170048   PMID:32277654   PMID:32499298   PMID:32535106   PMID:32632529   PMID:32814053   PMID:32945237   PMID:33152401   PMID:33273014   PMID:33420373   PMID:33497358  
PMID:33845483   PMID:33907275   PMID:33961781   PMID:34209278   PMID:34579737  


Genomics

Comparative Map Data
ERBB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1256,076,799 - 56,103,505 (+)EnsemblGRCh38hg38GRCh38
GRCh381256,080,108 - 56,103,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371256,473,892 - 56,497,289 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,760,159 - 54,783,395 (+)NCBINCBI36hg18NCBI36
Build 341254,760,158 - 54,783,395NCBI
Celera1256,125,560 - 56,149,315 (+)NCBI
Cytogenetic Map12q13.2NCBI
HuRef1253,512,788 - 53,536,430 (+)NCBIHuRef
CHM1_11256,441,254 - 56,464,656 (+)NCBICHM1_1
Erbb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910128,403,392 - 128,425,504 (-)NCBIGRCm39mm39
GRCm39 Ensembl10128,403,392 - 128,425,521 (-)Ensembl
GRCm3810128,567,523 - 128,589,635 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10128,567,523 - 128,589,652 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710128,006,424 - 128,026,557 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610127,972,317 - 127,992,450 (-)NCBImm8
Celera10130,961,356 - 130,981,519 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1077.1NCBI
Erbb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27994,549 - 1,015,876 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7996,225 - 1,015,525 (-)Ensembl
Rnor_6.072,989,202 - 3,010,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl72,989,340 - 3,010,350 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.072,962,964 - 2,984,938 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.471,858,057 - 1,877,353 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.171,858,056 - 1,877,353 (-)NCBI
Celera7866,587 - 885,873 (-)NCBICelera
Cytogenetic Map7q11NCBI
Erbb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554583,683,126 - 3,702,978 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554583,683,126 - 3,701,752 (+)NCBIChiLan1.0ChiLan1.0
ERBB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11233,062,681 - 33,085,426 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1233,063,434 - 33,084,994 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01232,811,533 - 32,834,958 (-)NCBIMhudiblu_PPA_v0panPan3
ERBB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.110406,856 - 424,746 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl10406,633 - 424,264 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha10468,642 - 486,495 (+)NCBI
ROS_Cfam_1.010416,919 - 431,621 (+)NCBI
UMICH_Zoey_3.110391,236 - 409,084 (+)NCBI
UNSW_CanFamBas_1.010634,155 - 651,980 (+)NCBI
UU_Cfam_GSD_1.010758,352 - 776,205 (+)NCBI
Erbb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494558,354,988 - 58,370,728 (-)NCBI
SpeTri2.0NW_004936646497,783 - 515,247 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERBB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl521,431,656 - 21,496,279 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1521,474,218 - 21,495,040 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2523,085,940 - 23,092,633 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERBB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11152,020,912 - 52,043,809 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1152,021,058 - 52,044,028 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037193,941,255 - 193,963,311 (-)NCBIVero_WHO_p1.0
Erbb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480211,906,279 - 11,925,530 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S1604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,727,965 - 53,728,241UniSTSGRCh37
Build 361252,014,232 - 52,014,508RGDNCBI36
Celera1253,377,268 - 53,377,544RGD
Cytogenetic Map12q13UniSTS
Cytogenetic Map12q13.13UniSTS
HuRef1250,769,521 - 50,769,799UniSTS
Marshfield Genetic Map1269.23UniSTS
Marshfield Genetic Map1269.23RGD
Genethon Genetic Map1270.6UniSTS
deCODE Assembly Map1268.61UniSTS
Whitehead-YAC Contig Map12 UniSTS
WI-16415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,497,128 - 56,497,252UniSTSGRCh37
Build 361254,783,395 - 54,783,519RGDNCBI36
Celera1256,149,315 - 56,149,439RGD
Cytogenetic Map12q13UniSTS
Cytogenetic Map12q13.2UniSTS
HuRef1253,536,267 - 53,536,391UniSTS
GeneMap99-GB4 RH Map12246.43UniSTS
Whitehead-RH Map12345.3UniSTS
NCBI RH Map12458.1UniSTS
STS-M34309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,496,002 - 56,496,219UniSTSGRCh37
Build 361254,782,269 - 54,782,486RGDNCBI36
Celera1256,148,187 - 56,148,404RGD
Cytogenetic Map12q13UniSTS
HuRef1253,535,138 - 53,535,355UniSTS
GeneMap99-GB4 RH Map12247.48UniSTS
NCBI RH Map12455.8UniSTS
D12S1388E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,497,076 - 56,497,181UniSTSGRCh37
Build 361254,783,343 - 54,783,448RGDNCBI36
Celera1256,149,263 - 56,149,368RGD
Cytogenetic Map12q13UniSTS
Cytogenetic Map12q13.2UniSTS
HuRef1253,536,215 - 53,536,320UniSTS
G64347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,478,700 - 56,478,809UniSTSGRCh37
Build 361254,764,967 - 54,765,076RGDNCBI36
Celera1256,130,368 - 56,130,477RGD
Cytogenetic Map12q13UniSTS
HuRef1253,517,678 - 53,517,787UniSTS
ERBB3_1423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,495,776 - 56,496,579UniSTSGRCh37
Build 361254,782,043 - 54,782,846RGDNCBI36
Celera1256,147,961 - 56,148,764RGD
HuRef1253,534,912 - 53,535,715UniSTS
SHGC-35265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,495,866 - 56,496,082UniSTSGRCh37
Build 361254,782,133 - 54,782,349RGDNCBI36
Celera1256,148,051 - 56,148,267RGD
Cytogenetic Map12q13UniSTS
HuRef1253,535,002 - 53,535,218UniSTS
GeneMap99-GB4 RH Map12248.2UniSTS
Whitehead-RH Map12344.1UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map122269.0UniSTS
RK1196_1197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371256,496,194 - 56,496,477UniSTSGRCh37
Build 361254,782,461 - 54,782,744RGDNCBI36
Celera1256,148,379 - 56,148,662RGD
Cytogenetic Map12q13UniSTS
Cytogenetic Map12q13.2UniSTS
HuRef1253,535,330 - 53,535,613UniSTS
G15952  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI17110380
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA23437196
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI17110380
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA23437196
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22484852
MIR205hsa-miR-205-5pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI19238171
MIR205hsa-miR-205-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20065103
MIR205hsa-miR-205-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19276373
MIR205hsa-miR-205-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR205hsa-miR-205-5pMirecordsexternal_infoNANA19276373
MIR205hsa-miR-205-5pOncomiRDBexternal_infoNANA19276373
MIR205hsa-miR-205-5pOncomiRDBexternal_infoNANA19238171
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI17110380
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR125Ahsa-miR-125a-5pTarbaseexternal_infoNothernblot POSITIVE
MIR22hsa-miR-22-3pOncomiRDBexternal_infoNANA22484852

Predicted Target Of
Summary Value
Count of predictions:7483
Count of miRNA genes:1263
Interacting mature miRNAs:1625
Transcripts:ENST00000267101, ENST00000411731, ENST00000415288, ENST00000450146, ENST00000546748, ENST00000546884, ENST00000548709, ENST00000549061, ENST00000549205, ENST00000549282, ENST00000549472, ENST00000549644, ENST00000549672, ENST00000549832, ENST00000550070, ENST00000550828, ENST00000550869, ENST00000551085, ENST00000551176, ENST00000551242, ENST00000552691, ENST00000553131
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 1959 89 740 603 176 446 2243 626 1703 319 664 928 167 28 1333 4
Low 473 1729 870 17 111 15 1417 1057 1967 87 752 658 8 1 943 947 1 2
Below cutoff 7 1165 114 3 1414 3 695 512 63 13 42 27 233 508

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA524528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM837872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU674508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC344156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA454939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000267101   ⟹   ENSP00000267101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,165 - 56,103,505 (+)Ensembl
RefSeq Acc Id: ENST00000411731   ⟹   ENSP00000415753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,137 - 56,085,623 (+)Ensembl
RefSeq Acc Id: ENST00000415288   ⟹   ENSP00000408340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,083,319 - 56,102,336 (+)Ensembl
RefSeq Acc Id: ENST00000546748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,087,824 - 56,088,868 (+)Ensembl
RefSeq Acc Id: ENST00000546884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,204 - 56,086,672 (+)Ensembl
RefSeq Acc Id: ENST00000548709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,097,134 - 56,098,980 (+)Ensembl
RefSeq Acc Id: ENST00000549061   ⟹   ENSP00000449138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,079,857 - 56,086,635 (+)Ensembl
RefSeq Acc Id: ENST00000549205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,093,483 - 56,096,063 (+)Ensembl
RefSeq Acc Id: ENST00000549282   ⟹   ENSP00000448636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,079,857 - 56,085,139 (+)Ensembl
RefSeq Acc Id: ENST00000549472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,086,519 - 56,088,064 (+)Ensembl
RefSeq Acc Id: ENST00000549644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,094,522 - 56,095,527 (+)Ensembl
RefSeq Acc Id: ENST00000549672   ⟹   ENSP00000449713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,139 - 56,087,154 (+)Ensembl
RefSeq Acc Id: ENST00000549832   ⟹   ENSP00000448729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,098,251 - 56,103,499 (+)Ensembl
RefSeq Acc Id: ENST00000550070   ⟹   ENSP00000448946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,093,832 - 56,102,834 (+)Ensembl
RefSeq Acc Id: ENST00000550828   ⟹   ENSP00000482073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,093,514 - 56,093,992 (+)Ensembl
RefSeq Acc Id: ENST00000550869   ⟹   ENSP00000448671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,167 - 56,096,769 (+)Ensembl
RefSeq Acc Id: ENST00000551085   ⟹   ENSP00000448483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,168 - 56,102,092 (+)Ensembl
RefSeq Acc Id: ENST00000551176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,088,629 - 56,088,996 (+)Ensembl
RefSeq Acc Id: ENST00000551242   ⟹   ENSP00000447510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,205 - 56,102,834 (+)Ensembl
RefSeq Acc Id: ENST00000552691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,099,866 - 56,100,300 (+)Ensembl
RefSeq Acc Id: ENST00000553131   ⟹   ENSP00000449129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,095,991 - 56,102,806 (+)Ensembl
RefSeq Acc Id: ENST00000643266   ⟹   ENSP00000495453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,076,799 - 56,083,902 (+)Ensembl
RefSeq Acc Id: ENST00000643518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,076,912 - 56,078,561 (+)Ensembl
RefSeq Acc Id: ENST00000682431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,142 - 56,102,804 (+)Ensembl
RefSeq Acc Id: ENST00000682512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,097,726 - 56,102,804 (+)Ensembl
RefSeq Acc Id: ENST00000682873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,099,139 - 56,102,802 (+)Ensembl
RefSeq Acc Id: ENST00000683018   ⟹   ENSP00000506822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,083,323 - 56,103,486 (+)Ensembl
RefSeq Acc Id: ENST00000683059   ⟹   ENSP00000507402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,079,874 - 56,103,486 (+)Ensembl
RefSeq Acc Id: ENST00000683142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,097,091 - 56,102,804 (+)Ensembl
RefSeq Acc Id: ENST00000683164   ⟹   ENSP00000508051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,083,313 - 56,103,486 (+)Ensembl
RefSeq Acc Id: ENST00000683653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,347 - 56,102,804 (+)Ensembl
RefSeq Acc Id: ENST00000684500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,080,172 - 56,102,804 (+)Ensembl
RefSeq Acc Id: ENST00000684766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1256,096,205 - 56,102,834 (+)Ensembl
RefSeq Acc Id: NM_001005915   ⟹   NP_001005915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,080,108 - 56,085,617 (+)NCBI
GRCh371256,473,809 - 56,497,291 (+)ENTREZGENE
Build 361254,760,159 - 54,765,668 (+)NCBI Archive
HuRef1253,512,788 - 53,536,430 (+)ENTREZGENE
CHM1_11256,441,337 - 56,446,848 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001982   ⟹   NP_001973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,080,165 - 56,103,505 (+)NCBI
GRCh371256,473,809 - 56,497,291 (+)ENTREZGENE
Build 361254,760,159 - 54,783,395 (+)NCBI Archive
HuRef1253,512,788 - 53,536,430 (+)ENTREZGENE
CHM1_11256,441,254 - 56,464,656 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001973   ⟸   NM_001982
- Peptide Label: isoform 1 precursor
- UniProtKB: P21860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005915   ⟸   NM_001005915
- Peptide Label: isoform s precursor
- UniProtKB: P21860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000267101   ⟸   ENST00000267101
RefSeq Acc Id: ENSP00000415753   ⟸   ENST00000411731
RefSeq Acc Id: ENSP00000408340   ⟸   ENST00000415288
RefSeq Acc Id: ENSP00000448729   ⟸   ENST00000549832
RefSeq Acc Id: ENSP00000448636   ⟸   ENST00000549282
RefSeq Acc Id: ENSP00000449138   ⟸   ENST00000549061
RefSeq Acc Id: ENSP00000449713   ⟸   ENST00000549672
RefSeq Acc Id: ENSP00000495453   ⟸   ENST00000643266
RefSeq Acc Id: ENSP00000448671   ⟸   ENST00000550869
RefSeq Acc Id: ENSP00000482073   ⟸   ENST00000550828
RefSeq Acc Id: ENSP00000448946   ⟸   ENST00000550070
RefSeq Acc Id: ENSP00000448483   ⟸   ENST00000551085
RefSeq Acc Id: ENSP00000447510   ⟸   ENST00000551242
RefSeq Acc Id: ENSP00000449129   ⟸   ENST00000553131
RefSeq Acc Id: ENSP00000508051   ⟸   ENST00000683164
RefSeq Acc Id: ENSP00000507402   ⟸   ENST00000683059
RefSeq Acc Id: ENSP00000506822   ⟸   ENST00000683018
Promoters
RGD ID:6789905
Promoter ID:HG_KWN:15878
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:ENST00000394099,   NM_001005915,   NM_001982,   UC009ZOJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361254,759,316 - 54,760,232 (+)MPROMDB
RGD ID:7224361
Promoter ID:EPDNEW_H17926
Type:initiation region
Name:ERBB3_2
Description:erb-b2 receptor tyrosine kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17927  EPDNEW_H17928  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,079,857 - 56,079,917EPDNEW
RGD ID:7224363
Promoter ID:EPDNEW_H17927
Type:initiation region
Name:ERBB3_1
Description:erb-b2 receptor tyrosine kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17926  EPDNEW_H17928  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,080,172 - 56,080,232EPDNEW
RGD ID:7224365
Promoter ID:EPDNEW_H17928
Type:initiation region
Name:ERBB3_3
Description:erb-b2 receptor tyrosine kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17926  EPDNEW_H17927  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381256,102,739 - 56,102,799EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ERBB3, IVS10AS, A-G, -8 single nucleotide variant Lethal congenital contracture syndrome 2 [RCV000013400] Chr12:12q13 pathogenic
NM_001982.3(ERBB3):c.1638G>A (p.Glu546=) single nucleotide variant Malignant melanoma [RCV000070107] Chr12:56094123 [GRCh38]
Chr12:56487907 [GRCh37]
Chr12:54774174 [NCBI36]
Chr12:12q13.2
not provided
NM_001982.3(ERBB3):c.1639G>A (p.Ala547Thr) single nucleotide variant Malignant melanoma [RCV000070108] Chr12:56094124 [GRCh38]
Chr12:56487908 [GRCh37]
Chr12:54774175 [NCBI36]
Chr12:12q13.2
not provided
NM_001982.4(ERBB3):c.3789G>A (p.Met1263Ile) single nucleotide variant not provided [RCV001508695] Chr12:56101815 [GRCh38]
Chr12:56495599 [GRCh37]
Chr12:54781866 [NCBI36]
Chr12:12q13.2
uncertain significance|not provided
NM_001982.3(ERBB3):c.3145A>G (p.Ser1049Gly) single nucleotide variant Malignant melanoma [RCV000062558] Chr12:56100189 [GRCh38]
Chr12:56493973 [GRCh37]
Chr12:54780240 [NCBI36]
Chr12:12q13.2
not provided
NM_001982.4(ERBB3):c.2802G>C (p.Gln934His) single nucleotide variant Malignant tumor of prostate [RCV000149124] Chr12:56098868 [GRCh38]
Chr12:56492652 [GRCh37]
Chr12:12q13.2
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 copy number gain See cases [RCV000141435] Chr12:53420606..56202942 [GRCh38]
Chr12:53814390..56596726 [GRCh37]
Chr12:52100657..54882993 [NCBI36]
Chr12:12q13.13-13.3
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) single nucleotide variant Acute erythroleukemia, familial [RCV000239667] Chr12:56102035 [GRCh38]
Chr12:56495819 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.221T>G (p.Leu74Arg) single nucleotide variant not provided [RCV000722675] Chr12:56083889 [GRCh38]
Chr12:56477673 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del) microsatellite Lethal congenital contracture syndrome 1 [RCV000626162] Chr12:56101591..56101593 [GRCh38]
Chr12:56495375..56495377 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.2274+1G>A single nucleotide variant not provided [RCV000415949] Chr12:56096847 [GRCh38]
Chr12:56490631 [GRCh37]
Chr12:12q13.2
likely pathogenic
GRCh37/hg19 12q13.2(chr12:55975308-56593032)x3 copy number gain See cases [RCV000446219] Chr12:55975308..56593032 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.890A>T (p.Asp297Val) single nucleotide variant Adenocarcinoma of stomach [RCV000434468]|Breast neoplasm [RCV000435426]|Malignant neoplasm of body of uterus [RCV000442973]|Transitional cell carcinoma of the bladder [RCV000427382]|Uterine Carcinosarcoma [RCV000441987] Chr12:56088558 [GRCh38]
Chr12:56482342 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu) single nucleotide variant Adenocarcinoma of stomach [RCV000443475]|Breast neoplasm [RCV000425620]|Carcinoma of gallbladder [RCV000432050]|Malignant neoplasm of body of uterus [RCV000443618]|Neoplasm of the large intestine [RCV000424621]|Neoplasm of uterine cervix [RCV000443705]|Transitional cell carcinoma of the bladder [RCV000421354]|Uterine Carcinosarcoma [RCV000436217] Chr12:56085070 [GRCh38]
Chr12:56478854 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.785C>A (p.Pro262His) single nucleotide variant Neoplasm [RCV000424878] Chr12:56088073 [GRCh38]
Chr12:56481857 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.2426A>G (p.Gln809Arg) single nucleotide variant Neoplasm [RCV000435577] Chr12:56097196 [GRCh38]
Chr12:56490980 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) single nucleotide variant Adenocarcinoma of stomach [RCV000418579]|Breast neoplasm [RCV000429939]|Carcinoma of gallbladder [RCV000441492]|Malignant neoplasm of body of uterus [RCV000434002]|Neoplasm of the large intestine [RCV000430165]|Neoplasm of uterine cervix [RCV000424151]|Transitional cell carcinoma of the bladder [RCV000440793]|Uterine Carcinosarcoma [RCV000422734] Chr12:56085070 [GRCh38]
Chr12:56478854 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.889G>A (p.Asp297Asn) single nucleotide variant Adenocarcinoma of stomach [RCV000429499]|Breast neoplasm [RCV000435793]|Malignant neoplasm of body of uterus [RCV000424484]|Transitional cell carcinoma of the bladder [RCV000435185]|Uterine Carcinosarcoma [RCV000418815] Chr12:56088557 [GRCh38]
Chr12:56482341 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.889G>T (p.Asp297Tyr) single nucleotide variant Adenocarcinoma of stomach [RCV000423102]|Breast neoplasm [RCV000440744]|Malignant neoplasm of body of uterus [RCV000433369]|Transitional cell carcinoma of the bladder [RCV000424195]|Uterine Carcinosarcoma [RCV000443967] Chr12:56088557 [GRCh38]
Chr12:56482341 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) single nucleotide variant Colonic neoplasm [RCV000430351]|Neoplasm of stomach [RCV000440625] Chr12:56088138 [GRCh38]
Chr12:56481922 [GRCh37]
Chr12:12q13.2
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) single nucleotide variant Neuronal intestinal pseudoobstruction [RCV001548741] Chr12:56098761 [GRCh38]
Chr12:56492545 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.83-46G>T single nucleotide variant not provided [RCV001540066] Chr12:56083705 [GRCh38]
Chr12:56477489 [GRCh37]
Chr12:12q13.2
benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) deletion not provided [RCV001643367] Chr12:56098249..56098250 [GRCh38]
Chr12:56492033..56492034 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.3355A>T (p.Ser1119Cys) single nucleotide variant not provided [RCV001535328] Chr12:56101214 [GRCh38]
Chr12:56494998 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.3811G>A (p.Gly1271Ser) single nucleotide variant not provided [RCV000897308] Chr12:56101837 [GRCh38]
Chr12:56495621 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.421+123G>T single nucleotide variant not provided [RCV000761833] Chr12:56085304 [GRCh38]
Chr12:56479088 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.3297del (p.His1100fs) deletion Neuronal intestinal pseudoobstruction [RCV001548739] Chr12:56101153 [GRCh38]
Chr12:56494937 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu) single nucleotide variant not provided [RCV000994933] Chr12:56083757 [GRCh38]
Chr12:56477541 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.3229C>T (p.Arg1077Trp) single nucleotide variant not provided [RCV000994934] Chr12:56101088 [GRCh38]
Chr12:56494872 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.1209G>A (p.Pro403=) single nucleotide variant not provided [RCV000927364] Chr12:56093011 [GRCh38]
Chr12:56486795 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.231G>A (p.Leu77=) single nucleotide variant not provided [RCV000926604] Chr12:56083899 [GRCh38]
Chr12:56477683 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.3391G>A (p.Ala1131Thr) single nucleotide variant not provided [RCV000973490] Chr12:56101250 [GRCh38]
Chr12:56495034 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.2532A>T (p.Ser844=) single nucleotide variant not provided [RCV000936635] Chr12:56097856 [GRCh38]
Chr12:56491640 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.78G>A (p.Gln26=) single nucleotide variant not provided [RCV000884340] Chr12:56080378 [GRCh38]
Chr12:56474162 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.258T>C (p.Tyr86=) single nucleotide variant not provided [RCV000916183] Chr12:56085018 [GRCh38]
Chr12:56478802 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) single nucleotide variant Neuronal intestinal pseudoobstruction [RCV001548740] Chr12:56097129 [GRCh38]
Chr12:56490913 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV000784951] Chr12:56096813 [GRCh38]
Chr12:56490597 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.3471C>T (p.Asn1157=) single nucleotide variant not provided [RCV000895743] Chr12:56101330 [GRCh38]
Chr12:56495114 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.1467G>A (p.Pro489=) single nucleotide variant not provided [RCV000980810] Chr12:56093537 [GRCh38]
Chr12:56487321 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.3369C>T (p.Ser1123=) single nucleotide variant not provided [RCV000923345] Chr12:56101228 [GRCh38]
Chr12:56495012 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile) single nucleotide variant not provided [RCV000888138] Chr12:56101555 [GRCh38]
Chr12:56495339 [GRCh37]
Chr12:12q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001982.4(ERBB3):c.1154A>G (p.Asn385Ser) single nucleotide variant not provided [RCV000897307] Chr12:56092791 [GRCh38]
Chr12:56486575 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.1614-10C>T single nucleotide variant not provided [RCV000979257] Chr12:56094089 [GRCh38]
Chr12:56487873 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV000985171] Chr12:56101284 [GRCh38]
Chr12:56495068 [GRCh37]
Chr12:12q13.2
likely pathogenic|uncertain significance
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) single nucleotide variant not provided [RCV001722969] Chr12:56084823 [GRCh38]
Chr12:56478607 [GRCh37]
Chr12:12q13.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001608584] Chr12:56084898 [GRCh38]
Chr12:56478682 [GRCh37]
Chr12:12q13.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001661291]|Neuronal intestinal pseudoobstruction [RCV001661292] Chr12:56097956 [GRCh38]
Chr12:56491740 [GRCh37]
Chr12:12q13.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654241] Chr12:56098201 [GRCh38]
Chr12:56491985 [GRCh37]
Chr12:12q13.2
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001658383]|Neuronal intestinal pseudoobstruction [RCV001658384]|not provided [RCV001654523] Chr12:56101207 [GRCh38]
Chr12:56494991 [GRCh37]
Chr12:12q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680332] Chr12:56084830 [GRCh38]
Chr12:56478614 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.3289T>C (p.Ser1097Pro) single nucleotide variant not provided [RCV000885555] Chr12:56101148 [GRCh38]
Chr12:56494932 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.3380G>A (p.Arg1127His) single nucleotide variant not provided [RCV000885647] Chr12:56101239 [GRCh38]
Chr12:56495023 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.2041T>C (p.Leu681=) single nucleotide variant not provided [RCV000909567] Chr12:56095792 [GRCh38]
Chr12:56489576 [GRCh37]
Chr12:12q13.2
likely benign
NM_001982.4(ERBB3):c.422-7A>T single nucleotide variant not provided [RCV000962262] Chr12:56086524 [GRCh38]
Chr12:56480308 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.1590G>C (p.Val530=) single nucleotide variant not provided [RCV000911222] Chr12:56093873 [GRCh38]
Chr12:56487657 [GRCh37]
Chr12:12q13.2
benign|likely benign
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001658316]|Neuronal intestinal pseudoobstruction [RCV001658317]|not provided [RCV001613774] Chr12:56100038 [GRCh38]
Chr12:56493822 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001676383] Chr12:56086690 [GRCh38]
Chr12:56480474 [GRCh37]
Chr12:12q13.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717261] Chr12:56080024 [GRCh38]
Chr12:56473808 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001619505] Chr12:56079996 [GRCh38]
Chr12:56473780 [GRCh37]
Chr12:12q13.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717342] Chr12:56080595 [GRCh38]
Chr12:56474379 [GRCh37]
Chr12:12q13.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) duplication not provided [RCV001598048] Chr12:56094951..56094952 [GRCh38]
Chr12:56488735..56488736 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001663316] Chr12:56089075 [GRCh38]
Chr12:56482859 [GRCh37]
Chr12:12q13.2
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717274] Chr12:56098096 [GRCh38]
Chr12:56491880 [GRCh37]
Chr12:12q13.2
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598843] Chr12:56084874 [GRCh38]
Chr12:56478658 [GRCh37]
Chr12:12q13.2
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) deletion not provided [RCV001677396] Chr12:56098249 [GRCh38]
Chr12:56492033 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001636068] Chr12:56095129 [GRCh38]
Chr12:56488913 [GRCh37]
Chr12:12q13.2
benign
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001661289]|Neuronal intestinal pseudoobstruction [RCV001661290]|not provided [RCV001713672] Chr12:56083910 [GRCh38]
Chr12:56477694 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001691727] Chr12:56080106 [GRCh38]
Chr12:56473890 [GRCh37]
Chr12:12q13.2
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001650211] Chr12:56088396 [GRCh38]
Chr12:56482180 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001709943] Chr12:56084218 [GRCh38]
Chr12:56478002 [GRCh37]
Chr12:12q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001681455] Chr12:56086864 [GRCh38]
Chr12:56480648 [GRCh37]
Chr12:12q13.2
benign
null single nucleotide variant not provided [RCV001614886] Chr12:56101378 [GRCh38]
Chr12:56495162 [GRCh37]
Chr12:12q13.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001684113] Chr12:56093417 [GRCh38]
Chr12:56487201 [GRCh37]
Chr12:12q13.2
benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1
pathogenic
GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3 copy number gain not provided [RCV001259615] Chr12:56333246..56558418 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.1253T>C (p.Ile418Thr) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001257435] Chr12:56093055 [GRCh38]
Chr12:56486839 [GRCh37]
Chr12:12q13.2
likely pathogenic
NM_001982.4(ERBB3):c.3944del (p.Ser1315fs) deletion Lethal congenital contracture syndrome 2 [RCV001332068] Chr12:56101970 [GRCh38]
Chr12:56495754 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.1530G>A (p.Trp510Ter) single nucleotide variant Lethal congenital contracture syndrome 2 [RCV001336414] Chr12:56093813 [GRCh38]
Chr12:56487597 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.4027dup (p.Ter1343LeuextTer?) duplication Lethal congenital contracture syndrome 2 [RCV001336415] Chr12:56102052..56102053 [GRCh38]
Chr12:56495836..56495837 [GRCh37]
Chr12:12q13.2
pathogenic
NM_001982.4(ERBB3):c.2993A>G (p.Lys998Arg) single nucleotide variant not provided [RCV001508693] Chr12:56099893 [GRCh38]
Chr12:56493677 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.532G>A (p.Asp178Asn) single nucleotide variant not provided [RCV001508691] Chr12:56086641 [GRCh38]
Chr12:56480425 [GRCh37]
Chr12:12q13.2
uncertain significance
NM_001982.4(ERBB3):c.2107A>C (p.Ile703Leu) single nucleotide variant not provided [RCV001508692] Chr12:56096554 [GRCh38]
Chr12:56490338 [GRCh37]
Chr12:12q13.2
uncertain significance
null single nucleotide variant not provided [RCV001670398] Chr12:56101522 [GRCh38]
Chr12:56495306 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.547+143G>A single nucleotide variant not provided [RCV001539417] Chr12:56086799 [GRCh38]
Chr12:56480583 [GRCh37]
Chr12:12q13.2
benign
NM_001982.4(ERBB3):c.3757G>A (p.Gly1253Ser) single nucleotide variant not provided [RCV001508694] Chr12:56101783 [GRCh38]
Chr12:56495567 [GRCh37]
Chr12:12q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3431 AgrOrtholog
COSMIC ERBB3 COSMIC
Ensembl Genes ENSG00000065361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000267101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408340 UniProtKB/Swiss-Prot
  ENSP00000415753 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447510 UniProtKB/Swiss-Prot
  ENSP00000448483 UniProtKB/TrEMBL
  ENSP00000448636 UniProtKB/TrEMBL
  ENSP00000448671 UniProtKB/TrEMBL
  ENSP00000448729 UniProtKB/TrEMBL
  ENSP00000448946 UniProtKB/TrEMBL
  ENSP00000449138 UniProtKB/TrEMBL
  ENSP00000482073 UniProtKB/TrEMBL
  ENSP00000495453 UniProtKB/TrEMBL
  ENSP00000506822 UniProtKB/Swiss-Prot
  ENSP00000507402 UniProtKB/Swiss-Prot
  ENSP00000508051 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000267101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411731 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415288 UniProtKB/Swiss-Prot
  ENST00000549061 UniProtKB/TrEMBL
  ENST00000549282 UniProtKB/TrEMBL
  ENST00000549832 UniProtKB/TrEMBL
  ENST00000550070 UniProtKB/TrEMBL
  ENST00000550828 UniProtKB/TrEMBL
  ENST00000550869 UniProtKB/TrEMBL
  ENST00000551085 UniProtKB/TrEMBL
  ENST00000551242 UniProtKB/Swiss-Prot
  ENST00000643266 UniProtKB/TrEMBL
  ENST00000683018 UniProtKB/Swiss-Prot
  ENST00000683059 UniProtKB/Swiss-Prot
  ENST00000683164 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.20.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000065361 GTEx
HGNC ID HGNC:3431 ENTREZGENE
Human Proteome Map ERBB3 Human Proteome Map
InterPro Furin-like_Cys-rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/TrEMBL
  Tyr_kinase_EGF/ERB/XmrK_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2065 UniProtKB/Swiss-Prot
NCBI Gene 2065 ENTREZGENE
OMIM 133180 OMIM
  190151 OMIM
  243180 OMIM
  607598 OMIM
Pfam Furin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recep_L_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERBB3 RGD, PharmGKB
PIRSF TyrPK_EGF-R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RB84_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6T4_HUMAN UniProtKB/TrEMBL
  B3KWG5_HUMAN UniProtKB/TrEMBL
  B4DGQ7_HUMAN UniProtKB/TrEMBL
  ERBB3_HUMAN UniProtKB/Swiss-Prot
  F8VRI5_HUMAN UniProtKB/TrEMBL
  F8VRL0_HUMAN UniProtKB/TrEMBL
  F8VW48_HUMAN UniProtKB/TrEMBL
  F8VYK4_HUMAN UniProtKB/TrEMBL
  O75812_HUMAN UniProtKB/TrEMBL
  P21860 ENTREZGENE
UniProt Secondary A8K6L6 UniProtKB/Swiss-Prot
  B4DIK7 UniProtKB/Swiss-Prot
  B4DV32 UniProtKB/Swiss-Prot
  E9PDT8 UniProtKB/Swiss-Prot
  Q9BUD7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-23 ERBB3  erb-b2 receptor tyrosine kinase 3    v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3  Symbol and/or name change 5135510 APPROVED
2013-07-30 ERBB3  v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3    v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)  Symbol and/or name change 5135510 APPROVED
2011-08-16 ERBB3  v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)  ERBB3  v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)  Symbol and/or name change 5135510 APPROVED