Gene
gemin4
- ID
- ZDB-GENE-050522-188
- Name
- gem (nuclear organelle) associated protein 4
- Symbol
- gemin4 Nomenclature History
- Previous Names
-
- im:7143815
- wu:fc41c09
- zgc:110169
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be involved in spliceosomal snRNP assembly. Predicted to act upstream of or within rRNA processing. Predicted to be part of SMN complex. Is expressed in brain and midbrain hindbrain boundary neural rod. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities. Orthologous to human GEMIN4 (gem nuclear organelle associated protein 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7143815 (1 image)
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 |
|---|---|---|---|
| neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | Alliance | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 617913 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR033265 | Gem-associated protein 4 |
Domain Details Per Protein
| Protein | Length | Gem-associated protein 4 |
|---|---|---|
|
UniProtKB:Q503T2
|
1057 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gemin4-201
(1)
|
Ensembl | 3,430 nt |
Interactions and Pathways
No data available
Plasmids
No data available