Gene
fam83ha
- ID
- ZDB-GENE-090312-104
- Name
- family with sequence similarity 83 member Ha
- Symbol
- fam83ha Nomenclature History
- Previous Names
-
- fam83h
- im:7145752
- si:dkey-221j11.2
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable keratin filament binding activity and protein kinase binding activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; positive regulation of cell migration; and protein localization to 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
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145752 (1 image)
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
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR050944 | Family with sequence similarity 83 (FAM83) |
Domain Details Per Protein
| Protein | Length | Family with sequence similarity 83 (FAM83) |
|---|---|---|
|
UniProtKB:F1R9L2
|
2317 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fam83ha-201
(1)
|
Ensembl | 7,192 nt |
Interactions and Pathways
No data available
Plasmids
No data available