Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2066
Gene name Gene Name - the full gene name approved by the HGNC.
Erb-b2 receptor tyrosine kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERBB4
Synonyms (NCBI Gene) Gene synonyms aliases
ALS19, HER4, p180erbB4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS19
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q34
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotid
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs55671017 G>A,T Likely-pathogenic, benign Coding sequence variant, missense variant, synonymous variant
rs202247795 C>T Likely-pathogenic Coding sequence variant, missense variant
rs267599192 G>A Likely-pathogenic Coding sequence variant, missense variant
rs267599193 C>T Likely-pathogenic Coding sequence variant, missense variant
rs397514262 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003534 hsa-miR-302d-3p Luciferase reporter assay, Microarray 19885849
MIRT003533 hsa-miR-19a-3p Luciferase reporter assay, Microarray 19885849
MIRT003533 hsa-miR-19a-3p Luciferase reporter assay, Microarray 19885849
MIRT003532 hsa-miR-372-3p Luciferase reporter assay, Microarray 19885849
MIRT005806 hsa-miR-146a-5p Luciferase reporter assay, Microarray, Western blot 20864407
Transcription factors
Transcription factor Regulation Reference
WWP1 Repression 19561640
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IMP 15534001
GO:0001755 Process Neural crest cell migration ISS
GO:0001934 Process Positive regulation of protein phosphorylation TAS 15534001
GO:0004713 Function Protein tyrosine kinase activity IDA 18334220
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600543 3432 ENSG00000178568
Protein
UniProt ID Q15303
Protein name Receptor tyrosine-protein kinase erbB-4 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-4) (Tyrosine kinase-type cell surface receptor HER4) (p180erbB4) [Cleaved into: ERBB4 intracellular domain (4ICD) (E4ICD) (s80HER4)]
Protein function Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation
PDB 2AHX , 2L2T , 2LCX , 2R4B , 3BBT , 3BBW , 3BCE , 3U2P , 3U7U , 3U9U , 8U4I , 8U4J , 8U4K , 8U4L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01030 Recep_L_domain 55 167 Receptor L domain Repeat
PF00757 Furin-like 176 335 Furin-like cysteine rich region Domain
PF01030 Recep_L_domain 358 478 Receptor L domain Repeat
PF14843 GF_recep_IV 502 634 Growth factor receptor domain IV Domain
PF07714 PK_Tyr_Ser-Thr 718 974 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in brain, heart, kidney, in addition to skeletal muscle, parathyroid, cerebellum, pituitary, spleen, testis and breast. Lower levels in thymus, lung, salivary gland, and pancreas. Isoform JM-A CYT-1 and isof
Sequence
MKPATGLWVWVSLLVAAGTVQPSDSQSVCAGTENKLSSLSDLEQQYRALRKYYENCEVVM
GNLEITSIEHNRDLSFLRSVREVTGYVLVALNQFRYLPLENLRIIRGTKLYEDRYALAIF
LNYRKDGNFGLQELGLKNLTEILNGGVYVDQNKFLCYADTIHWQDIV
RNPWPSNLTLVST
NGSSGCGRCHKSCTGRCWGPTENHCQTLTRTVCAEQCDGRCYGPYVSDCCHRECAGGCSG
PKDTDCFACMNFNDSGACVTQCPQTFVYNPTTFQLEHNFNAKYTYGAFCVKKCPHNFVVD
SSSCVRACPSSKMEVEENGIKMCKPCTDICPKACD
GIGTGSLMSAQTVDSSNIDKFINCT
KINGNLIFLVTGIHGDPYNAIEAIDPEKLNVFRTVREITGFLNIQSWPPNMTDFSVFSNL
VTIGGRVLYSGLSLLILKQQGITSLQFQSLKEISAGNIYITDNSNLCYYHTINWTTLF
ST
INQRIVIRDNRKAENCTAEGMVCNHLCSSDGCWGPGPDQCLSCRRFSRGRICIESCNLYD
GEFREFENGSICVECDPQCEKMEDGLLTCHGPGPDNCTKCSHFKDGPNCVEKCPDGLQGA
NSFIFKYADPDRECHPCHPNCTQGCNGPTSHDCI
YYPWTGHSTLPQHARTPLIAAGVIGG
LFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKR
VKVLGSGAFGTVYKGIWVPEGETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHL
VRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGMMYLEERRLV
HRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQ
SDVWSYGVTIWELMTFGGKPYDGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMID
ADSRPKFKELAAEF
SRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEEDLEDMMDAE
EYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVP
YRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERS
PRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAED
EYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQ
EYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLPPPPYRHRNTVV
Sequence length 1308
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
ErbB signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Amyotrophic lateral sclerosis
Proteoglycans in cancer
  Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
Nuclear signaling by ERBB4
Downregulation of ERBB4 signaling
PIP3 activates AKT signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
Estrogen-dependent gene expression
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 19, Amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
24119685, 24529757
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737, 29892015
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
22843504
Breast adenocarcinoma Breast adenocarcinoma rs28934874, rs112445441, rs121913279, rs121913286, rs104886003, rs121434592
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 24824216 ClinVar, GWAS
Mental depression Depressive disorder, Major Depressive Disorder 29942085, 29662059 ClinVar
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737, 29892015 ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 19, amyotrophic lateral sclerosis GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 34886903
Adenocarcinoma Associate 26315110, 26317919, 31407221
Adenocarcinoma of Lung Associate 17487277, 18948947, 26254096, 26824984
Adenomatous Polyposis Coli Associate 36264285
Adrenocortical Carcinoma Associate 25078331
Aicardi Syndrome Associate 26011570
Alzheimer Disease Associate 22486522
Alzheimer Disease Inhibit 37533101
Amyotrophic Lateral Sclerosis Associate 24119685
Amyotrophic lateral sclerosis 1 Associate 24119685