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
- Acts upstream of or within camera-type eye development; embryonic cranial skeleton morphogenesis; and enteric nervous system development. Located in cytoplasm and nucleus. Is expressed in several structures, including anterior neural keel; immature eye; nervous system; neural tube; and pharyngeal arch. Used to study coloboma. Human ortholog(s) of this gene implicated in coloboma and syndromic microphthalmia 14. 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