Gene
hepacama
- ID
- ZDB-GENE-050522-198
- Name
- hepatic and glial cell adhesion molecule a
- Symbol
- hepacama Nomenclature History
- Previous Names
-
- Glialcama (1)
- hepacam
- zgc:112363
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Located in cell-cell junction. Is expressed in several structures, including brain; digestive system; eye; pleuroperitoneal region; and radial glial cell. 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
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Pérez-Rius et al., 2019
- 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 | IPR003598 | Immunoglobulin subtype 2 |
| 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 subtype 2 | Immunoglobulin V-set domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q502A9
|
422 | |||||||
|
UniProtKB:A0A8M9QH19
|
346 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hepacama-201
(1)
|
Ensembl | 2,316 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-hepacama | polyclonal | Rabbit |
|
2 |
Plasmids
No data available