Gene
ikbkg
- ID
- ZDB-GENE-050327-68
- Name
- inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
- Symbol
- ikbkg Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have K63-linked polyubiquitin modification-dependent protein binding activity. Involved in I-kappaB phosphorylation and positive regulation of I-kappaB kinase/NF-kappaB signaling. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Behcet's disease; Bloch-Sulzberger syndrome; hypohidrotic ectodermal dysplasia; learning disability; and primary immunodeficiency disease. Is expressed in periderm. Orthologous to human IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147563 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Davison et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bloch-Sulzberger syndrome | Alliance | Incontinentia pigmenti | 308300 |
| ectodermal dysplasia and immunodeficiency 1 | Alliance | Ectodermal dysplasia and immunodeficiency 1 | 300291 |
| immunodeficiency 33 | Alliance | Immunodeficiency 33 | 300636 |
| Autoinflammatory disease, systemic, X-linked | 301081 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NEMO, Zinc finger | NF-kappa-B essential modulator NEMO, CC2-LZ domain | NF-kappa-B essential modulator NEMO, N-terminal |
|---|---|---|---|---|
|
UniProtKB:F1QHG7
|
602 | |||
|
UniProtKB:Q58EN3
|
586 |
Interactions and Pathways
No data available
Plasmids
No data available