Gene
hepacamb
- ID
- ZDB-GENE-141223-1
- Name
- hepatic and glial cell adhesion molecule b
- Symbol
- hepacamb Nomenclature History
- Previous Names
-
- Glialcamb (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Is expressed in brain. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 2A and megalencephalic leukoencephalopathy with subcortical cysts 2B. Orthologous to human HEPACAM (hepatic and glial cell adhesion molecule).
- Genome Resources
-
- Alliance (1)
- Gene:100333891 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Pérez-Rius et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| megalencephalic leukoencephalopathy with subcortical cysts 2A | Alliance | Megalencephalic leukoencephalopathy with subcortical cysts 2A | 613925 |
| megalencephalic leukoencephalopathy with subcortical cysts 2B | Alliance | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development | 613926 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Family | IPR052280 | HEPACAM domain-containing protein |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | HEPACAM domain-containing protein | Immunoglobulin domain subtype | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin V-set domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BGI8
|
428 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance