Gene
nfixa
- ID
- ZDB-GENE-080722-15
- Name
- nuclear factor I/Xa
- Symbol
- nfixa Nomenclature History
- Previous Names
-
- nfix
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within skeletal muscle fiber development. Predicted to be active in nucleus. Is expressed in central nervous system; muscle; notochord; paraxial mesoderm; and somite. Human ortholog(s) of this gene implicated in Marshall-Smith syndrome and Sotos syndrome 2. Orthologous to human NFIX (nuclear factor I X).
- 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Marshall-Smith syndrome | Alliance | Marshall-Smith syndrome | 602535 |
| Sotos syndrome 2 | Alliance | Malan syndrome | 614753 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Length |
|---|---|
|
UniProtKB:A0A8M9Q7B4
|
224 |
|
UniProtKB:A0A8M9QGH8
|
196 |
|
UniProtKB:A0A8M9PNC5
|
246 |
|
UniProtKB:A0A8M9PNC9
|
202 |
|
UniProtKB:A0A8M9Q7B7
|
204 |
|
UniProtKB:A0A8M9QGG6
|
245 |
Interactions and Pathways
No data available
Plasmids
No data available