Gene
mab21l2
- ID
- ZDB-GENE-011101-3
- Name
- mab-21-like 2
- Symbol
- mab21l2 Nomenclature History
- Previous Names
-
- id:ibd3414 (1)
- unm_au10
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Involved in embryonic cranial skeleton morphogenesis and eye development. Localizes to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in coloboma and syndromic microphthalmia. Is expressed in several structures, including anterior neural keel; immature eye; nervous system; neural tube; and pharyngeal arch. Orthologous to human MAB21L2 (mab-21 like 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:76844 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic microphthalmia 14 | Alliance | Microphthalmia/coloboma and skeletal dysplasia syndrome | 615877 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| coloboma | mab21l2au10/au10 (AB) | standard conditions | Gath et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | MAB21L/Cyclic GMP-AMP synthase-like receptor | Mab-21-like, HhH/H2TH-like domain | Mab-21-like, nucleotidyltransferase domain |
|---|---|---|---|---|
|
UniProtKB:Q8UUZ1
|
359 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mab21l2-201
(1)
|
Ensembl | 1,857 nt |
Interactions and Pathways
No data available
Plasmids
No data available