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 be involved in DNA replication. 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 |
1 - 3 of 3
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 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch1073-475a24.1-201
(1)
|
Ensembl | 1,958 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available