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

Expression Atlas

Thisse Expression Data

MGC:109961 (1 image)

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 InterPro	494
UniProtKB:F1R4A6 InterPro	494

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	mbtps2-201 (1) Ensembl	3026 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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