Gene
kitlgb
- ID
- ZDB-GENE-070424-2
- Name
- kit ligand b
- Symbol
- kitlgb Nomenclature History
- Previous Names
-
- kitlb (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity and stem cell factor receptor binding activity. Acts upstream of or within embryonic hemopoiesis and hematopoietic stem cell homeostasis. Predicted to be located in several cellular components, including extracellular region; filopodium; and lamellipodium. Predicted to be active in plasma membrane. Is expressed in several structures, including caudal vein plexus; central nervous system; gonad; kidney; and otic vesicle. Human ortholog(s) of this gene implicated in Waardenburg's syndrome; autosomal dominant nonsyndromic deafness 69; and familial progressive hyperpigmentation with or without hypopigmentation. Orthologous to human KITLG (KIT ligand).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Mahony et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant nonsyndromic deafness 69 | Alliance | Deafness, autosomal dominant 69, unilateral or asymmetric | 616697 |
familial progressive hyperpigmentation with or without hypopigmentation | Alliance | Hyperpigmentation with or without hypopigmentation | 145250 |
Waardenburg syndrome, type 2F | 619947 | ||
[Skin/hair/eye pigmentation 7, blond/brown hair] | 611664 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Four-helical cytokine-like, core | Stem cell factor |
---|---|---|---|
UniProtKB:Q56JH5
|
267 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
kitlgb-201
(1)
|
Ensembl | 1,845 nt |
Interactions and Pathways
No data available
Plasmids