Gene
erbb3a
- ID
- ZDB-GENE-030916-3
- Name
- erb-b2 receptor tyrosine kinase 3a
- Symbol
- erbb3a Nomenclature History
- Previous Names
-
- erbb3
- im:7148890
- si:dz150i12.1
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have transmembrane receptor protein tyrosine kinase activity. Predicted to be involved in several processes, including positive regulation of cell population proliferation; positive regulation of kinase activity; and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to localize to basal plasma membrane; integral component of plasma membrane; and receptor complex. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 2. Is expressed in epidermis; fin; glial cell; and heart. Orthologous to human ERBB3 (erb-b2 receptor tyrosine kinase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7148890 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| lethal congenital contracture syndrome 2 | Alliance | ?Lethal congenital contractural syndrome 2 | 607598 |
| neuronal intestinal dysplasia type A | Alliance | Visceral neuropathy, familial, 1, autosomal recessive | 243180 |
| {?Erythroleukemia, familial, susceptibility to} | 133180 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000494 | Receptor L-domain |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR006211 | Furin-like cysteine-rich domain |
| Domain | IPR032778 | Growth factor receptor domain 4 |
| Family | IPR016245 | Tyrosine protein kinase, EGF/ERB/XmrK receptor |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR036941 | Receptor L-domain superfamily |
| Homologous_superfamily | IPR044912 | Epidermal growth factor receptor, juxtamembrane domain |
| Repeat | IPR006212 | Furin-like repeat |
Domain Details Per Protein
| Protein | Length | Epidermal growth factor receptor, juxtamembrane domain | Furin-like cysteine-rich domain | Furin-like repeat | Growth factor receptor cysteine-rich domain superfamily | Growth factor receptor domain 4 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor L-domain | Receptor L-domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine protein kinase, EGF/ERB/XmrK receptor |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8AW81
|
1305 | |||||||||||||
|
UniProtKB:A0A8M2BCY9
|
1432 | |||||||||||||
|
UniProtKB:A0A8M2BD22
|
1438 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | erbb3a-001 (1) | Havana | 3,918 nt | ||
| mRNA |
erbb3a-201
(1)
|
Ensembl | 3,918 nt | ||
| mRNA |
erbb3a-203
(1)
|
Ensembl | 6,282 nt | ||
| mRNA |
erbb3a-204
(1)
|
Ensembl | 412 nt | ||
| ncRNA |
erbb3a-002
(1)
|
Ensembl | 532 nt | ||
| ncRNA |
erbb3a-005
(1)
|
Ensembl | 519 nt |
Interactions and Pathways
Plasmids
No data available