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ERBB3 Gene

protein-coding GIFtS: 76

GC12P054760

v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
(Previous name: lethal congenital contracture syndrome 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LCCS2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 2.7.10.1 ^³
ErbB-3 ^²
HER3 ^¹, ², ³
LCCS2 ^², ⁵
MDA-BF-1 ^²
MGC88033 ^²
c-erbB-3 ^²
c-erbB3 ^², ³
erbB-3 ^²
erbB3-S ^²
p180-ErbB3 ^²
p45-sErbB3 ^²
p85-sErbB3 ^²

Descriptions
Tyrosine kinase-type cell surface receptor HER3 ^³
lethal congenital contracture syndrome 2 ^¹
v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 ^²
v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) ^²

External Ids
HGNC: 3431¹
Entrez Gene: 2065²
UniProtKB: P21860³
Ensembl: ENSG00000065361⁷

Search outside databases for aliases for ERBB3 gene

Previous GC identifers: GC12M056386 GC12M056841 GC12P056190

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ERBB3:

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]

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860

Function: Binds and is activated by neuregulins and NTAK

Gene Wiki entry for ERBB3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ERBB3 gene

Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.2 HGNC cytogenetic band: 12q13

ERBB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P054760: (about GC identifiers)

Start:	54,760,159 bp from pter
End:	54,783,395 bp from pter
Size:	23,237 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000012.10 NT_029419.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860 (See protein sequence)

Recommended Name: Receptor tyrosine-protein kinase erbB-3 precursor

Size: 1342 amino acids; 148098 Da

Subunit: Heterodimer with each of the other ERBB receptors (Potential). Interacts with CSPG5, PA2G4

and MUC1

Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform 2: Secreted

PDB structures from and Proteopedia :

1M6B (3D)

Alternative splicing: 2 isoforms: P21860-1 P21860-2

Post-translational modifications:

Ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the

p85 subunit of phosphatidylinositol 3-kinase (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001005915.1 NP_001973.2

ENSEMBL proteins:

ENSP00000377659 ENSP00000267101

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant ERBB3 Protein
	Sigma-Aldrich CompoZr ZFN for ERBB3
	R&D Systems Recombinant & Natural Proteins for ERBB3 (ErbB3/HER3)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ErbB 3)
	Human Recombinant Proteins from Abnova (ERBB3)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005615	extracellular space	IDA	11389077
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	2687875
GO:0016323	basolateral plasma membrane	IDA	12646923

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Antibodies for ERBB3:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of ERBB3
	Sigma-Aldrich Antibody Arrays and Antibodies for ERBB3
	R&D Systems Antibodies for ERBB3 (ErbB3/HER3)
	Cell Signaling Technology (CST) Antibodies for ERBB3 (HER3/ErbB3)
	Antibodies from Abcam (ErbB 3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ERBB3)
	Novus Biologicals Antibodies for ERBB3

Assays for ERBB3:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of ERBB3
	R&D Systems ELISAs for ERBB3 (ErbB3/HER3) (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P21860

ProtoNet protein and cluster: P21860

4 Blocks protein families:

IPB000494 Epidermal growth-factor receptor (EGFR)

IPB006211 Furin-like cysteine rich region

IPB006212 Furin-like repeat

IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860

Domain: The cytoplasmic part of the receptor may interact with the SH2 or SH3 domains of many

signal-transducing proteins

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor

subfamily

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ERBB3)
		Millipore RNAi Products for the Analysis of ERBB3 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ERBB3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001005915

Applied Biosystems Silencer® siRNAs for ERBB3

Sigma-Aldrich siRNA and siRNA Panels for ERBB3

Sigma-Aldrich shRNA Panels and shRNA for ERBB3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ERBB3
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005915
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005915
untagged cDNA clones in CMV expression vector (see all 2): NM_001005915

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001982

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860

Function: Binds and is activated by neuregulins and NTAK

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Enzyme Number (IUBMB): EC 2.7.10.1

Genatlas biochemistry entry for ERBB3:

avian erythroblastic leukemia,viral (v-erb-b) oncogene homolog 3,heregulin beta 1 receptor,signal

transducer receptor,heterodimerizing with the ligand less recetpor ERBB2

15/16 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Erbb3) (see all 16 ):

	behavior/neurological	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	muscle
nervous system	normal	pigmentation	reproductive system	respiratory system

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	--
GO:0004888	transmembrane receptor activity	ISS	7514177
GO:0005524	ATP binding	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for ERBB3 (Your Favorite Gene powered by Ingenuity)

Agrin Interactions at Neuromuscular Junction
Neuregulin Signaling

GeneDecks ERBB3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ERBB3

5/101 Interacting proteins for ERBB3 (P21860^{1, 2} ENSP00000267101³) via UniProtKB, MINT, and/or STRING (see all 101 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PIK3R2	O00459², ENSP00000222254³	MINT-74627 MINT-74618 MINT-61512 MINT-74629 MINT-74637 MINT-61520 MINT-74625 MINT-74638 MINT-61513 MINT-74624 MINT-74636 MINT-74633 MINT-74628 MINT-61519 MINT-74626 MINT-74639 MINT-61516 MINT-74635 MINT-74634 MINT-61517 STRING (score=.823)
SHC1	P29353², ENSP00000357432³	MINT-74725 MINT-61521 MINT-74726 MINT-74738 STRING (score=.988)
GRB7	Q14451², ENSP00000310771³	MINT-74546 MINT-74548 MINT-74545 MINT-74547 STRING (score=.92)
PLCG1	P19174², ENSP00000362369³	MINT-74675 MINT-74682 MINT-74681 MINT-74676 STRING (score=.84)
GRB2	P62993², ENSP00000339007³	MINT-61515 MINT-61518 STRING (score=.984)

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5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	IEA	--
GO:0007162	negative regulation of cell adhesion	IDA	7556068
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	--
GO:0007507	heart development	IEA	--
GO:0009968	negative regulation of signal transduction	IDA	11389077

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Enzo Life Sciences drugs & compounds for ERBB3

Sigma-Aldrich Small Molecules for ERBB3:

Inhibitor

Compounds for ERBB3 available from Tocris Bioscience

Compound	Action	CAS number
HDS 029	Potent inhibitor of the ErbB receptor family
JNJ 28871063 hydrochloride	Potent ErbB receptor family inhibitor	[944341-54-2]
PD 158780	Potent ErbB receptor family inhibitor	[171179-06-9]

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10/23 Novoseek chemical compound relationships for ERBB3 gene (see all 23 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	83.12	224	7514177 (4), 7929151 (4), 8058768 (4), 11189010 (3) (see all 99)
hrgbeta1	82.20	3	12209601 (2)
pertuzumab	77.63	8	17627612 (3), 18632642 (2), 17547474 (1)
phosphatidylinositol	64.73	45	7929151 (5), 7535767 (4), 9886492 (2), 8732665 (2) (see all 22)
phosphotyrosine	55.35	7	8579117 (1), 12853564 (1), 10226586 (1), 8631031 (1) (see all 5)
o-tyrosine	49.70	1	17983482 (1)
phosphoinositide	46.71	15	11546794 (4), 8550620 (2), 16127743 (1), 11114724 (1) (see all 9)
wortmannin	45.18	1	9389501 (1)
apigenin	8.79	1	14602723 (1)
progesterone	3.86	4	11758715 (1), 8579117 (1), 18024331 (1), 15534105 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ERBB3)
		Millipore RNAi Products for the Analysis of ERBB3 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ERBB3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001005915

Sigma-Aldrich siRNA and siRNA Panels for ERBB3

Sigma-Aldrich shRNA Panels and shRNA for ERBB3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001005915 NM_001982

REFSEQ mRNAs for ERBB3 gene (2 alternative transcripts):

NM_001005915.1 NM_001982.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001005915 NM_001982

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005915
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005915
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001005915

Additional cDNA sequence:

AF086028.1 AK124710.1 AK125028.1 AK291681.1 AK294719.1 AK295650.1 AK300909.1 BC002706.2

BC041579.1 BC082992.1 BT007226.1 CR621450.1 M29366.1 M34309.1 S61953.1 U88357.1

U88358.1 U88359.1 U88360.1

20 DOTS entries:

DT.98131702 DT.95179527 DT.100791868 DT.95102464 DT.101982408 DT.100700960 DT.213585 DT.100038754

DT.91963462 DT.75114482 DT.95184370 DT.86837952 DT.92440238 DT.101982406 DT.121128974 DT.121129014

DT.95082546 DT.121634328 DT.444493 DT.91823725

24/234 AceView cDNA sequences (see all 234 ):

BQ440429 BU179810 BF726040 BQ225650 F13163 BQ682811 BQ721795 BU190632

BQ677065 BF198019 BF477611 AV709287 BQ218231 BE743512 BX479156 AA574146

M29366 BQ877641 BP357593 AU121609 AF086028 M34309 W92344 AL708682

highest scoring ESTs for ERBB3:

M34309 H06628 AA179665 AA182581 AA565432 AA570304 AA661884 AA833967 AA919093 AI078622

Unigene Cluster for ERBB3:

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

Hs.118681 [show with all ESTs]

Unigene Representative Sequence: NM_001982

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ERBB3 (see all 12 )

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:

ExUns:	18	^	19a	·	19b	·	19c	^	20	^	21	^	22a	·	22b	^	23a	·	23b	^	24a	·	24b	^	25	^	26	^	27a	·	27b	^	28	^	29
SP1:			-										-				-
SP2:			-				-		-		-		-		-		-
SP3:													-				-
SP4:	-		-		-		-		-		-		-		-		-		-		-		-		-		-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for ERBB3

2 Ensembl transcripts including schematic representations:

ENST00000394099 ENST00000267101

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ERBB3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ERBB3

¹ / ² / ³

16 probe-sets matching ERBB3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
33639_g_at²^{, 3}	U95-A	1	1.00	1.00	0.75	0.68	AA584202	0.60	0.83	0.73	1
32787_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.08	M34309	1.00	0.90	0.95	1
1585_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.17	M34309	1.00	0.90	0.95	1
1723_g_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.72	S61953	0.80	0.88	0.84	1
2089_s_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.93	H06628	0.80	1.00	0.91	1
1742_at²^{, 3}	U95-A	1	1.00	1.00	0.57	1.34	S61953	0.80	0.88	0.84	1
48563_at²^{, 3}	U95-B	1	1.00	1.00	0.97	1.78	AI565773	0.80	0.88	0.84	1
33638_at²^{, 3}	U95-A	1	0.56	1.00	0.24	0.44	AA584202	0.60	0.83	0.73	1
202454_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001982	0.60	0.83	0.73	1
226213_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AV681807	0.60	0.83	0.73	1
215638_at²^{, 3}	U133-A	1	0.64	1.00	--	--	U88358	0.40	0.75	0.60	1
202454_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1563252_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
226213_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1563253_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215638_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

GeneDecks ERBB3 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGCCGTAAAT

SOURCE GeneReport for Unigene cluster: Hs.118681
Expression variation in blood from EXPOLDB for ERBB3
UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860
Tissue specificity: Epithelial tissues and brain

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for ERBB3 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ERBB3¹	--	v-erb-b2 erythroblastic leukemia viral oncogene homolog more	90.53(n) 93.39(a)	481105 XM_538226.2 XP_538226.2
chimpanzee (Pan troglodytes)	ERBB3¹	--	v-erb-b2 erythroblastic leukemia viral oncogene homolog more	99.75(n) 99.85(a)	451980 XM_509131.2 XP_509131.2
rat (Rattus norvegicus)	Erbb3¹	--	v-erb-b2 erythroblastic leukemia viral oncogene homolog more	87.3(n) 90.74(a)	29496 NM_017218.2 NP_058914.2
mouse (Mus musculus)	Erbb3^{1, 5}	10 (70.00 cM)⁵	v-erb-b2 erythroblastic leukemia viral oncogene homolog more^{1, 5}	86.97(n)¹ 90.96(a)¹	13867¹ NM_010153.1¹ NP_034283.1¹ AA049644⁵ AF059175⁵ (see all 14)
fruit fly (Drosophila melanogaster)	Egfr³	57E9--F1	eggshell pattern formation epidermal growth factor more	39(a)	--

About this table Species with no ortholog for ERBB3

ENSEMBL Gene Tree for ERBB3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ERBB3 gene

ERBB2² ERBB4² EGFR²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/180 NCBI SNPs in ERBB3 are shown (see all 180 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 35)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs773123^1,2	A,C,F,H	54781265(-)	`CCTGCT/ACCGGC`	1	C/S	mis¹ ese³		13		MN EU EA WA	1440
	rs3759093^1,2	C,F,H	54759815(+)	`CACCAA/GGTGAA`	2	--	ng5¹		4		MN EA EU WA	594
--	rs12320176^1,2	C,F,H	54772842(+)	`GCTCAA/GTGTCT`	1	N/S	mis¹		4		EU EA WA	406
	rs2271188^1,2	C,F,H	54781290(-)	`CTCCGC/TGTGGC`	1	R/H	mis¹ ese³		12		EA NA EU WA	2454
	rs3891921^1,2	C,H	54776895(+)	`TGACAG/CATGTA`	1	H/D	mis¹ ese³		4		EU EA WA	406
--	rs7297175^1,2	A,C	54760075(+)	`ATCCCC/TACTCC`	2	--	ng5¹		0	--	--	--	--
	rs11171743^1,2	C,H	54781888(+)	`GAGGTG/AGTCCT`	1	S/G	mis¹		4		EU EA WA	418
--	rs17118292^1,2	H	54780260(-)	`ATGGGC/AATGTA`	1	I/M	mis¹ ese³		4		EU EA WA	406
	rs2271189^1,2	C,F,H	54781258(-)	`CGGCTC/TCTACA`	1	R/R	syn¹ ese³		16		EA EU WA NA	2660
	rs2229046^1,2	C,F	54773468(+)	`GAAATT/CAGTGC`	1	I/I	syn¹ ese³		5		MN NA EA	364

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HapMap Linkage Disequilibrium images for ERBB3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 190151 disorders: 607598

UniProtKB/Swiss-Prot: ERBB3_HUMAN, P21860

Overexpressed in a subset of human mammary tumors

Defects in ERBB3 are the cause of lethal congenital contracture syndrome type 2 (LCCS2)

[MIM:607598]; also called Israeli Bedouin multiple contracture syndrome type A. LCCS2 is an

autosomal recessive neurogenic form of a neonatally lethal arthrogryposis that is associated with

atrophy of the anterior horn of the spinal cord. The LCCS2 syndrome is characterized by multiple

joint contractures, anterior horn atrophy in the spinal cord, and a unique feature of a markedly

distended urinary bladder. The phenotype suggests a spinal cord neuropathic etiology

10/65 Novoseek disease relationships for ERBB3 gene (see all 65 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	70.88	95	17266042 (4), 18425425 (4), 18632642 (4), 15704104 (3) (see all 54)
breast carcinoma	65.11	30	15770691 (3), 9823984 (2), 8732665 (2), 10473632 (2) (see all 21)
viral leukemia	62.45	3	15150091 (1), 17275115 (1), 12021921 (1)
tumors	59.48	154	18507044 (5), 18398842 (4), 19401448 (4), 11789762 (3) (see all 91)
cancer	56.22	58	18404164 (3), 9712416 (3), 10535875 (2), 10066071 (2) (see all 42)
nsclc	54.45	31	15731348 (6), 16843264 (3), 16288303 (2), 19150934 (2) (see all 15)
carcinoma	49.09	55	9494565 (4), 7673253 (3), 11135221 (3), 8683379 (3) (see all 29)
mammary tumor	42.84	6	16168116 (3), 2252277 (1), 10205169 (1)
metastasis	40.85	43	18398842 (5), 18172732 (3), 18698037 (3), 12888923 (2) (see all 24)
carcinoma squamous cell	38.81	20	7656248 (3), 9499191 (2), 10632356 (2), 15809707 (2) (see all 13)

About this table

Human Gene Mutation Database: ERBB3
Genetic Association Database: ERBB3
Human Genome Epidemiology Navigator: ERBB3 (13 documents)
Tumor Gene Database: ERBB3
Breast Cancer Gene Database: ERBB3

(Possibly Related Articles in Doctor's Guide)
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A Look at Pancreatic Disease: How Do We Improve the Odds? Presented at DDW

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/584 PubMed articles for ERBB3 gene (see all 584 ):

c-erbB3 gene encodes secreted as well as transmembrane receptor tyrosine kinase. (PubMed id 7685162)^{1, 3, 4} Katoh M.... Terada M. (1993)
Neuroglycan C, a novel member of the neuregulin family. (PubMed id 15358134)^{1, 3, 4} Kinugasa Y....Higashiyama S. (2004)
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3- kinase/Akt pathway. (PubMed id 17701904)^{3, 4} Narkis G.... Birk O.S. (2007)
An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors. (PubMed id 16143043)^{3, 6} Godde R....Epplen J.T. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Structure of the extracellular region of HER3 reveals an interdomain tether. (PubMed id 12154198)^{3, 4} Cho H.S. and Leahy D.J. (2002)
Regulation of the ErbB3 binding protein Ebp1 by protein kinase C. (PubMed id 11325528)^{3, 4} Lessor T.J. and Hamburger A.W. (2001)
Molecular cloning and expression of an additional epidermal growth factor receptor-related gene. (PubMed id 2164210)^{3, 4} Plowman G.D.... Shoyab M. (1990)
Isolation and characterization of ERBB3, a third member of the ERBB/epidermal growth factor receptor family: evidence for overexpression in a subset of human mammary tumors. (PubMed id 2687875)^{3, 4} Kraus M.H.... Aaronson S.A. (1989)
Dominant negative interference of transcription factor AP-2 causes inhibition of ErbB-3 expression and suppresses malignant cell growth. (PubMed id 11859873)^{1, 3} Zhu C.H. and Domann F.E. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2065	HGNC: 3431	AceView: ERBB3	Ensembl:ENSG00000065361	euGenes: HUgn2065
ECgene: ERBB3	H-InvDB: ERBB3

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for ERBB3	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for ERBB3
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for ERBB3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ERBB3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ERBB3		Antibodies for ERBB3
	Explore super-pooled esiRNAs		Proteins for ERBB3
	Lentivirus-delivered shRNAs for ERBB3		Small molecules for ERBB3
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ERBB3)
	Antibodies (ERBB3)
	Chimera RNAi (ERBB3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for ERBB3 (HER3/ErbB3)

	Recombinant Proteins (ErbB 3)
	Antibodies (ErbB 3)

Search OriGene for ERBB3

Tocris compounds for ERBB3

	Drugs for ERBB3
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ERBB3

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ERBB3 Gene

protein-coding GIFtS: 76

Aliases &
Descriptions
for ERBB3

Summaries
for ERBB3

Genomic Location
for ERBB3

Proteins
for ERBB3

Protein Domains/
Families
for ERBB3

Gene Function
for ERBB3

Pathways & Interactions
for ERBB3

Drugs & Compounds
for ERBB3

Transcripts
for ERBB3

Expression
for ERBB3

Orthologs
for ERBB3

Paralogs
for ERBB3

SNPs/Variants
for ERBB3

Disorders & Mutations
for ERBB3

Medical News
for ERBB3

Publications
for ERBB3

Search for ERBB3

Genome Databases showing ERBB3

Other Databases showing ERBB3

Specialized Databases showing ERBB3

Licensable Technologies
for ERBB3

Services
for ERBB3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ERBB3 Gene

protein-coding GIFtS: 76

Aliases & Descriptionsfor ERBB3

Summariesfor ERBB3

Genomic Locationfor ERBB3

Proteinsfor ERBB3

Protein Domains/Familiesfor ERBB3

Gene Functionfor ERBB3

Pathways & Interactionsfor ERBB3

Drugs & Compoundsfor ERBB3

Transcriptsfor ERBB3

Expression for ERBB3

Orthologsfor ERBB3

Paralogsfor ERBB3

SNPs/Variantsfor ERBB3

Disorders & Mutationsfor ERBB3

Medical Newsfor ERBB3

Publicationsfor ERBB3

Search for ERBB3

Genome Databases showing ERBB3

Other Databases showing ERBB3

Specialized Databases showing ERBB3

Licensable Technologiesfor ERBB3

Servicesfor ERBB3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ERBB3

Summaries
for ERBB3

Genomic Location
for ERBB3

Proteins
for ERBB3

Protein Domains/
Families
for ERBB3

Gene Function
for ERBB3

Pathways & Interactions
for ERBB3

Drugs & Compounds
for ERBB3

Transcripts
for ERBB3

Expression
for ERBB3

Orthologs
for ERBB3

Paralogs
for ERBB3

SNPs/Variants
for ERBB3

Disorders & Mutations
for ERBB3

Medical News
for ERBB3

Publications
for ERBB3

Licensable Technologies
for ERBB3

Services
for ERBB3