Gene
fam83hb
- ID
- ZDB-GENE-030131-6729
- Name
- family with sequence similarity 83 member Hb
- Symbol
- fam83hb Nomenclature History
- Previous Names
-
- fa03f11
- si:ch211-199g17.1
- wu:fa03f11 (1)
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be involved in intermediate filament cytoskeleton organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to colocalize with keratin filament. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3A. Orthologous to human FAM83H (family with sequence similarity 83 member H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| amelogenesis imperfecta type 3A | Alliance | Amelogenesis imperfecta, type IIIA | 130900 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | FAM83H, N-terminal phospholipase D-like domain | Family with sequence similarity 83 (FAM83) | Scaffolding anchor of CK1 domain |
|---|---|---|---|---|---|
| UniProtKB:Q1LVV0 | InterPro | 1192 | |||
| UniProtKB:G1K2R9 | InterPro | 1170 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fam83hb-201
(1)
|
Ensembl | 3,702 nt | ||
| mRNA |
fam83hb-202
(1)
|
Ensembl | 3,940 nt |
Interactions and Pathways
No data available
Plasmids
No data available