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
- Localizes to cell-cell junction. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 2A and megalencephalic leukoencephalopathy with subcortical cysts 2B. Is expressed in several structures, including digestive system; eye; gill; pleuroperitoneal region; and radial glial cell. 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