Gene

mbtps2

ID
ZDB-GENE-030131-6598
Name
membrane-bound transcription factor peptidase, site 2
Symbol
mbtps2 Nomenclature History
Previous Names
  • s2p (1)
  • fb72d02
  • wu:fb72d02
  • wu:fk47a09
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to have metalloendopeptidase activity. Involved in cartilage development and lipid metabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Schlombs et al., 2003
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mbtps2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
ichthyosis follicularis-alopecia-photophobia syndrome 1 Alliance IFAP syndrome with or without BRESHECK syndrome 308205
osteogenesis imperfecta type 19 Alliance Osteogenesis imperfecta, type XIX 301014
X-linked keratosis follicularis spinulosa decalvans Alliance Keratosis follicularis spinulosa decalvans, X-linked 308800
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Alliance ?Olmsted syndrome, X-linked 300918
Associated With mbtps2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR008915 Peptidase M50
Family IPR001193 Membrane-bound transcription factor site-2 protease
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Length Membrane-bound transcription factor site-2 protease PDZ superfamily Peptidase M50
UniProtKB:Q4V9P5 494
UniProtKB:F1R4A6 494
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