Gene
kitlga
- ID
- ZDB-GENE-070424-1
- Name
- kit ligand a
- Symbol
- kitlga Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity and stem cell factor receptor binding activity. Acts upstream of or within melanocyte differentiation. 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 digestive system; endocrine system; muscle; neural crest cell; and segmental plate. 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
- 16 figures from 11 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 |
---|---|---|---|
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:Q56JH6
|
272 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
kitlga-201
(1)
|
Ensembl | 1,613 nt | ||
mRNA |
kitlga-202
(1)
|
Ensembl | 801 nt | ||
mRNA |
kitlga-203
(1)
|
Ensembl | 819 nt |
Interactions and Pathways
Plasmids