BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ERBB4
Symbol Alias	ALS19, HER4
Approved Name	erb-b2 receptor tyrosine kinase 4
Previous Name	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4, "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4"
Name Alias	human epidermal growth factor receptor 4
Location	2q33.3-q34
Position	chr2:211375717-212538841, -1
External Links	HGNC: 3432 Entrez Gene: 2066 Ensembl: ENSG00000178568 UCSC: uc002veg.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chen, P.,2012	SNP: rs10207288, rs2371276, rs707284, rs839511, rs839523	In summary, we found no evidence that ErbB4 was associated with the three major psychiatric disorders in our Chinese population sample.	Negative	Comment on Study
Goes, F. S.,2011	Other variant: ERBB4_SNV8_A insertion/deletion, ERBB4_SNV7_G>A	In conclusion, we found no rare variants of clear deleterious effect, but did uncover a modestly associated novel variant that could affect alternative splicing of ERBB4.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 55)

GO terms by PBA (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	ISS	40
GO:0004714	transmembrane receptor protein tyrosine kinase activity	molecular function	IDA[18334220]	5
GO:0045087	innate immune response	biological process	TAS	49
GO:0043235	receptor complex	cellular component	IDA[23382219]	20
GO:0005634	nucleus	cellular component	IDA[15534001]	283
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0004716	receptor signaling protein tyrosine kinase activity	molecular function	IEA	2
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 47)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0023014	signal transduction by phosphorylation	biological process	IEA	5
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0030334	regulation of cell migration	biological process	ISS	9
GO:0005524	ATP binding	molecular function	IEA	118
GO:0016323	basolateral plasma membrane	cellular component	IDA[12646923]	21
GO:0009880	embryonic pattern specification	biological process	ISS	2
GO:0043066	negative regulation of apoptotic process	biological process	IMP[10722704]	46
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0001934	positive regulation of protein phosphorylation	biological process	TAS[15534001]	15
GO:0005739	mitochondrion	cellular component	IDA[16778220]	75
GO:0021551	central nervous system morphogenesis	biological process	ISS	1
GO:0061026	cardiac muscle tissue regeneration	biological process	ISS	1
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IMP[15534001]	58
GO:0060045	positive regulation of cardiac muscle cell proliferation	biological process	ISS	3
GO:0008283	cell proliferation	biological process	TAS[8383326]	37
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0008284	positive regulation of cell proliferation	biological process	IMP[8617750]	44
GO:0042803	protein homodimerization activity	molecular function	IPI[18334220]	71
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	IMP[10348342]	14
GO:0004713	protein tyrosine kinase activity	molecular function	IDA[18334220]	9
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	biological process	IDA[10353604]	16
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0045165	cell fate commitment	biological process	IEA	3
GO:0043653	mitochondrial fragmentation involved in apoptotic process	biological process	IMP[16778220]	2
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0001755	neural crest cell migration	biological process	ISS	2
GO:0042523	positive regulation of tyrosine phosphorylation of Stat5 protein	biological process	IMP[16837552]	2
GO:0007165	signal transduction	biological process	IDA[10572067]	136
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	biological process	IDA[10353604]; IDA[10353604]	2
GO:0005759	mitochondrial matrix	cellular component	TAS	11
GO:0060644	mammary gland epithelial cell differentiation	biological process	ISS	3
GO:0021889	olfactory bulb interneuron differentiation	biological process	ISS	1
GO:0007507	heart development	biological process	ISS	20
GO:0005829	cytosol	cellular component	TAS	223
GO:0046777	protein autophosphorylation	biological process	IDA[18334220]	16
GO:2000366	positive regulation of STAT protein import into nucleus	biological process	IMP[15534001]	2
GO:0005515	protein binding	molecular function	IPI[10572067]	563
GO:0007595	lactation	biological process	IMP[15534001]	5
GO:0044212	transcription regulatory region DNA binding	molecular function	IMP[15534001]	17
GO:0060749	mammary gland alveolus development	biological process	ISS	4
GO:0005154	epidermal growth factor receptor binding	molecular function	IPI[8617750]	3
GO:0008285	negative regulation of cell proliferation	biological process	IMP[17120616]	41
GO:0018108	peptidyl-tyrosine phosphorylation	biological process	IDA[18334220]	12
GO:0005576	extracellular region	cellular component	TAS	97
GO:0016477	cell migration	biological process	IDA[9135143]	17

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04012	ErbB signaling pathway	13

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
her2Pathway	Role of ERBB2 in Signal Transduction and Oncology	7
erbB4pathway	g-Secretase mediated ErbB4 Signaling Pathway	2

Gene related interactors from protein-protein interactions data in HPRD (count: 25)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ERBB4	BTC	NO	in vivo	11254912
ERBB4	SNTB2	NO	in vitro;in vivo;yeast 2-hybrid	10725395
ERBB4	CRK	NO	in vitro;in vivo	16729043
ERBB4	RNF41	NO	in vitro;in vivo	11867753
ERBB4	ERBB2	YES	in vitro	16767099
ERBB4	DLG2	YES	in vitro;in vivo;yeast 2-hybrid	10725395
ERBB4	NRG4	NO	in vitro	10348342
ERBB4	YAP1	NO	in vitro;in vivo;yeast 2-hybrid	15023535
ERBB4	CD44	NO	in vitro;in vivo	11825873
ERBB4	NRG1	YES	in vitro;in vivo	8062828 , 10537356 , 7721889 , 9565587
ERBB4	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	10725395 , 16767099
ERBB4	DLG3	YES	in vitro;in vivo;yeast 2-hybrid	12175853 , 10725395
ERBB4	STAT5A	NO	in vivo	15534001
ERBB4	ADAM17	NO	in vitro	15534001
ERBB4	PIK3R2	NO	in vitro;in vivo	16729043
ERBB4	CTGF	NO	in vitro	12297288
ERBB4	STAT5B	NO	in vitro;in vivo	16729043
ERBB4	ERBB3	NO	in vitro;in vivo	7689552
ERBB4	GRB2	NO	in vitro;in vivo	16729043
ERBB4	MUC1	NO	in vivo	11278868 , 12939402
ERBB4	HBEGF	YES	in vitro;in vivo	9135143
ERBB4	TGFA	NO	in vivo	10918572
ERBB4	SHC1	NO	in vitro;in vivo	16729043
ERBB4	NRG2	NO	in vitro;in vivo	9168115 , 9168114
ERBB4	EREG	NO	in vivo	9419975

Related other genetic factors

Gene related SNPs (count: 71)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs707284	chr2:211974321 - 211974321(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs839511	chr2:211957517 - 211957517(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs839523	chr2:211951364 - 211951364(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs10207288	chr2:211676652 - 211676652(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2371276	chr2:211690360 - 211690360(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 66)

rs_ID	Location	Functional Annotation
rs839509	chr2:211957572 - 211957572(1)	intron_variant; non_coding_transcript_variant
rs839525	chr2:211950572 - 211950572(1)	intron_variant; non_coding_transcript_variant
rs16847357	chr2:211964772 - 211964772(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs16847207	chr2:211926524 - 211926524(1)	intron_variant; non_coding_transcript_variant
rs16847322	chr2:211953661 - 211953661(1)	intron_variant; non_coding_transcript_variant
rs10497957	chr2:211968346 - 211968346(1)	intron_variant; non_coding_transcript_variant
rs16847307	chr2:211952562 - 211952562(1)	intron_variant; non_coding_transcript_variant
rs11695985	chr2:211966741 - 211966741(1)	intron_variant; non_coding_transcript_variant
rs987322	chr2:211965176 - 211965176(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2083297	chr2:211972762 - 211972762(1)	intron_variant; non_coding_transcript_variant
rs10497954	chr2:211953724 - 211953724(1)	intron_variant; non_coding_transcript_variant
rs707283	chr2:211969445 - 211969445(1)	intron_variant; non_coding_transcript_variant
rs16847218	chr2:211930508 - 211930508(1)	intron_variant; non_coding_transcript_variant
rs2579980	chr2:211941911 - 211941911(1)	intron_variant; non_coding_transcript_variant
rs839530	chr2:211938040 - 211938040(1)	intron_variant; non_coding_transcript_variant
rs2102996	chr2:211977143 - 211977143(1)	intron_variant; non_coding_transcript_variant
rs13025703	chr2:211977609 - 211977609(1)	intron_variant; non_coding_transcript_variant
rs12613571	chr2:211981269 - 211981269(1)	intron_variant; non_coding_transcript_variant
rs987321	chr2:211965215 - 211965215(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs957698	chr2:211976248 - 211976248(1)	intron_variant; non_coding_transcript_variant
rs4672629	chr2:211974450 - 211974450(1)	intron_variant; non_coding_transcript_variant
rs17414925	chr2:211977397 - 211977397(1)	intron_variant; non_coding_transcript_variant
rs10191972	chr2:211681887 - 211681887(1)	intron_variant; non_coding_transcript_variant
rs1829615	chr2:211683052 - 211683052(1)	intron_variant; non_coding_transcript_variant
rs2272024	chr2:211679355 - 211679355(1)	intron_variant; non_coding_transcript_variant
rs3817429	chr2:211679468 - 211679468(1)	intron_variant; non_coding_transcript_variant
rs6705698	chr2:211676021 - 211676021(1)	intron_variant; non_coding_transcript_variant
rs6705988	chr2:211676071 - 211676071(1)	intron_variant; non_coding_transcript_variant
rs6759039	chr2:211675480 - 211675480(1)	intron_variant; non_coding_transcript_variant
rs13001867	chr2:211675862 - 211675862(1)	intron_variant; non_coding_transcript_variant
rs4423543	chr2:211671321 - 211671321(1)	intron_variant; non_coding_transcript_variant
rs839540	chr2:211947335 - 211947335(1)	intron_variant; non_coding_transcript_variant
rs16846710	chr2:211671772 - 211671772(1)	intron_variant; non_coding_transcript_variant
rs839521	chr2:211952285 - 211952285(1)	intron_variant; non_coding_transcript_variant
rs12476100	chr2:211669795 - 211669795(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs839520	chr2:211952370 - 211952370(1)	intron_variant; non_coding_transcript_variant
rs1851168	chr2:211670420 - 211670420(1)	intron_variant; non_coding_transcript_variant
rs6714941	chr2:211675272 - 211675272(1)	intron_variant; non_coding_transcript_variant
rs11893474	chr2:211675209 - 211675209(1)	intron_variant; non_coding_transcript_variant
rs11893380	chr2:211674977 - 211674977(1)	intron_variant; non_coding_transcript_variant
rs10183757	chr2:211674834 - 211674834(1)	intron_variant; non_coding_transcript_variant
rs13019783	chr2:211673690 - 211673690(1)	intron_variant; non_coding_transcript_variant
rs17413784	chr2:211666867 - 211666867(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs13424871	chr2:211666627 - 211666627(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6725181	chr2:211665741 - 211665741(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs4673644	chr2:211978291 - 211978291(1)	intron_variant; non_coding_transcript_variant
rs12473131	chr2:211980567 - 211980567(1)	intron_variant; non_coding_transcript_variant
rs839501	chr2:211976679 - 211976679(1)	intron_variant; non_coding_transcript_variant
rs1402719	chr2:211976747 - 211976747(1)	intron_variant; non_coding_transcript_variant
rs10205607	chr2:211980736 - 211980736(1)	intron_variant; non_coding_transcript_variant
rs839515	chr2:211955959 - 211955959(1)	intron_variant; non_coding_transcript_variant
rs839516	chr2:211953200 - 211953200(1)	intron_variant; non_coding_transcript_variant
rs839517	chr2:211953052 - 211953052(1)	intron_variant; non_coding_transcript_variant
rs839519	chr2:211952594 - 211952594(1)	intron_variant; non_coding_transcript_variant
rs990741	chr2:211960848 - 211960848(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12616932	chr2:211960274 - 211960274(1)	intron_variant; non_coding_transcript_variant
rs12623434	chr2:211959971 - 211959971(1)	intron_variant; non_coding_transcript_variant
rs839512	chr2:211957309 - 211957309(1)	intron_variant; non_coding_transcript_variant
rs6707590	chr2:211967497 - 211967497(1)	intron_variant; non_coding_transcript_variant
rs6744796	chr2:211964068 - 211964068(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs839499	chr2:211963869 - 211963869(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs839500	chr2:211962258 - 211962258(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs839504	chr2:211975287 - 211975287(1)	intron_variant; non_coding_transcript_variant
rs6435682	chr2:211975141 - 211975141(1)	intron_variant; non_coding_transcript_variant
rs2888037	chr2:211972145 - 211972145(1)	intron_variant; non_coding_transcript_variant
rs1439232	chr2:211968952 - 211968952(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ERBB4_SNV7_G>A	point mutation		1 (1/0/0)
ERBB4_SNV8_A insertion/deletion	insertion/deletion		1 (0/1/0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 2	chr2:0-242193529	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
21993442	In summary, we found no evidence that ErbB4 was associated with the three major psychiatric disorders in our Chinese population sample.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 10)

Reference	ID in SZGene	Result Category
18704261	273	Negative
17893707	273	Negative
17130882	273	Positive
19571809	273	Positive
17598910	273	Positive
19158809	273	Negative
16249994	273	Positive
20600594	273	Positive
16402353	273	Positive
19367581	273	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
21993442	In summary, we found no evidence that ErbB4 was associated with the three major psychiatric disorders in our Chinese population sample.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr2:211375717..212538841 View in gBrowse