Gene
fam111.2
- ID
- ZDB-GENE-141216-92
- Name
- family with sequence similarity 111.2
- Symbol
- fam111.2 Nomenclature History
- Previous Names
-
- si:ch1073-475a24.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable peptidase activity. Predicted to be involved in DNA replication. Predicted to act upstream of or within proteolysis. Predicted to be active in chromatin and nucleus. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 2. Orthologous to several human genes including FAM111B (FAM111 trypsin like peptidase B).
- 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 |
|---|---|---|---|
| Kenny-Caffey syndrome type 2 | Alliance | Kenny-Caffey syndrome, type 2 | 127000 |
| Gracile bone dysplasia | 602361 | ||
| Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold |
|---|---|---|---|---|
| UniProtKB:A0A8M9PYA9 | InterPro | 410 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch1073-475a24.1-201
(1)
|
Ensembl | 1,958 nt |
Interactions and Pathways
No data available
Plasmids
No data available