Gene: ERBB4

Alternate names for this Gene: ALS19|HER4|p180erbB4

Gene Summary: 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 phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.

Gene is located in Chromosome: 2

Location in Chromosome : 2q34

Description of this Gene: erb-b2 receptor tyrosine kinase 4

Type of Gene: protein-coding

rs1464443 in ERBB4 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1464443 in ERBB4 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs397514262 in ERBB4 gene and AMYOTROPHIC LATERAL SCLEROSIS 19 PMID 24119685 2013 ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

rs1464443 in ERBB4 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs6735626 in ERBB4 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1464443 in ERBB4 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs4673659 in ERBB4 gene and Asthma PMID 24824216 2014 Genome-wide interaction studies reveal sex-specific asthma risk alleles.

rs35544454 in ERBB4 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs1879532 in ERBB4 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs2220024 in ERBB4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16825008 in ERBB4 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs13393577 in ERBB4 gene and Breast Carcinoma PMID 22452962 2012 Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

rs3791699 in ERBB4 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs115683961 in ERBB4 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs4132462 in ERBB4 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs10174084 in ERBB4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11693031 in ERBB4 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs13393577 in ERBB4 gene and Malignant neoplasm of breast PMID 22452962 2012 Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

rs11693031 in ERBB4 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs12373751 in ERBB4 gene and Non-alcoholic Fatty Liver Disease PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

rs1351592 in ERBB4 gene and Polycystic Ovary Syndrome PMID 26416764 2015 Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.

PMID 30566500 2018 Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.

rs3791686 in ERBB4 gene and Sperm Motility Measurement PMID 29453196 2018 In the two-staged GWAS, a single nucleotide polymorphism rs3791686 in the intron of gene for erb-b2 receptor tyrosine kinase 4 (<i>ERBB4</i>) on chromosome 2q34 was identified as a novel locus for sperm motility, as evident from the discovery and replication results using meta-analysis (β=-4.01, combined P=5.40×10<sup>-9</sup>).

rs12694277 in ERBB4 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1394780 in ERBB4 gene and Thyroxine measurement PMID 30843173 2019 Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone.

rs13428799 in ERBB4 gene and Triiodothyronine measurement PMID 30843173 2019 Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone.

rs1949651 in ERBB4 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs55897719 in ERBB4 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs202247795 in ERBB4 gene and melanoma PMID 19718025 2009 Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4.