|
Gene id |
2066 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
ERBB4 Gene UCSC Ensembl |
|
Aliases |
ALS19, HER4, p180erbB4 |
|
Gene name |
erb-b2 receptor tyrosine kinase 4 |
|
Alternate names |
receptor tyrosine-protein kinase erbB-4, avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4, human epidermal growth factor receptor 4, proto-oncogene-like protein c-ErbB-4, tyrosine kinase-type cell surface receptor HER4, v-erb-a erythroblastic, |
|
Gene location |
2q34 (212538801: 211375716) Exons: 31 NC_000002.12
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
600543 |
|
| Pathway id | Pathway name |
|---|
| hsa04020 | Calcium signaling pathway | | hsa04151 | PI3K-Akt signaling pathway | | hsa05205 | Proteoglycans in cancer | |
|
| Associated diseases |
References |
| Cancer | GAD: 17487277 |
| Celiac disease | GAD: 19240061 |
| Amyotrophic lateral sclerosis (ALS) | KEGG: H00058 |
| Schizophrenia | GAD: 16249994 |
| Autism | GAD: 19736351 |
| Implantation failure | INFBASE: 18579857 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 26416764 |
| Female infertility | INFBASE: 26416764 |
| Controls Sertoli cells and germ cell adhesion | MIK: 25058600 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25058600 |
Controls S
ertoli cel
ls and ger
m cell adh
esion
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|