Gene

ufsp2

ID
ZDB-GENE-030131-8726
Name
ufm1-specific peptidase 2
Symbol
ufsp2 Nomenclature History
Previous Names
  • cb891 (1)
  • fb05c06
  • fk89d04
  • wu:fb05c06
  • wu:fk89d04 (1)
  • zgc:64113
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to enable deUFMylase activity and thiolester hydrolase activity. Predicted to be involved in proteolysis. Predicted to be located in endoplasmic reticulum and nucleus. Is expressed in hatching gland; myotome; notochord; polster; and segmental plate. Human ortholog(s) of this gene implicated in Beukes hip dysplasia and developmental and epileptic encephalopathy. Orthologous to human UFSP2 (UFM1 specific peptidase 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ufsp2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Beukes hip dysplasia Alliance ?Hip dysplasia, Beukes type 142669
Developmental and epileptic encephalopathy 106 620028
Spondyloepimetaphyseal dysplasia, Di Rocco type 617974
Associated With ufsp2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR012462 Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2
Domain Details Per Protein
Protein Length Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2
UniProtKB:Q7T347 401
UniProtKB:B8JIG4 466
UniProtKB:B8JIG3 401
UniProtKB:A0A2R8PYA6 466
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations