Gene
actl6b
- ID
- ZDB-GENE-050522-191
- Name
- actin-like 6B
- Symbol
- actl6b Nomenclature History
- Previous Names
-
- zgc:110167
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have chromatin binding activity. Predicted to be involved in chromatin organization; nervous system development; and regulation of transcription by RNA polymerase II. Predicted to localize to NuA4 histone acetyltransferase complex and SWI/SNF complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Orthologous to human ACTL6B (actin like 6B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110167 (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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 76 | Alliance | Developmental and epileptic encephalopathy 76 | 618468 |
| Intellectual developmental disorder with severe speech and ambulation defects | 618470 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|
|
UniProtKB:F8W3Z2
|
426 | |||
|
UniProtKB:Q503T4
|
376 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
actl6b-201
(1)
|
Ensembl | 1,131 nt | ||
| mRNA |
actl6b-202
(1)
|
Ensembl | 1,592 nt | ||
| mRNA | si:ch1073-228j22.3-001 (1) | 1,281 nt |
Interactions and Pathways
No data available
Plasmids
No data available