UFSP2 - UFM1 specific peptidase 2 Gene

Also Known as BHD; DEE106; SEMDDR; C4orf20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55325

About UFSP2

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:185,399,537-185,425,964 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 17.7) and 25 other tissues.

Summary

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with Other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

UFSP2 Products (1)

mRNA Protein Name
NM_018359.5 NP_060829.2 ufm1-specific protease 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables deUFMylase activity IDA
IDA: Inferred from direct assay
31595041 GOA
enables deUFMylase activity IMP
IMP: Inferred from mutant phenotype
25219498 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25219498 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of proteolysis involved in protein catabolic process IDA
IDA: Inferred from direct assay
36543799 GOA
involved in proteolysis IMP
IMP: Inferred from mutant phenotype
25219498 GOA
involved in regulation of intracellular estrogen receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
25219498 GOA
involved in rescue of stalled ribosome IDA
IDA: Inferred from direct assay
38383785 GOA
involved in ribosome disassembly IDA
IDA: Inferred from direct assay
38383785 GOA
Cellular Component GO Annotation Evidence References Source
is active in endoplasmic reticulum IDA
IDA: Inferred from direct assay
35926457 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UFSP2 Protein Structure

Peptidase_C78

Peptidase_C78: Peptidase family C78 (278 - 461)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 469 a.a.
Protein Preferred Names Protein Names

ufm1-specific protease 2

UFSP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UFSP2 Q9NUQ7 APOBEC1 Homo sapiens P41238
Y2H Prey Pooling
32296183
Intra
UFSP2 Q9NUQ7 APOBEC1 Homo sapiens P41238
Y2H Array
32296183
Intra
UFSP2 Q9NUQ7 LMO1 Homo sapiens P25800
Y2H Array
32296183
Intra
UFSP2 Q9NUQ7 LMO1 Homo sapiens P25800
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

UFSP2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P87129 UFSP2 Antibody (YA6822) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Beukes Hip Dysplasia

  • Hip Dysplasia, Beukes Type

  • Beukes Familial Hip Dysplasia

  • BFHD

  • Cilliers-Beighton Syndrome

  • Osteoarthropathy, Premature Degenerative, Of Hip

  • Premature Degenerative Osteoarthropathy Of The Hip

  • BHD

  • Beukes Type Hip Dysplasia

  • Hip Dysplasia Beukes Type

  • Premature Degenerative Osteoarthropathy

  • Dysplasia, Hip, Beukes Type
Spondyloepimetaphyseal Dysplasia, Di Rocco Type

  • SEMDDR
Developmental And Epileptic Encephalopathy 106

  • DEE106
Pontocerebellar Hypoplasia, Type 4

  • Pontocerebellar Hypoplasia Type 4

  • PCH4

  • Olivopontocerebellar Hypoplasia

  • Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia

  • Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia

  • Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia

  • Pontocerebellar Hypoplasia 4

  • Young Mckeever Squier Syndrome

  • Hypoplasia, Pontocerebellar, Type 4
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Autosomal Recessive Non-Syndromic Intellectual Disability

  • Ar-Nsid

  • Ns-Arid
Spondyloepimetaphyseal Dysplasia

  • Dysplasia, Spondyloepimetaphyseal
Meier-Gorlin Syndrome 8

  • MGORS8
Deafness, Autosomal Dominant 24

  • DFNA24

  • Autosomal Dominant Nonsyndromic Deafness 24

  • Autosomal Dominant Deafness 24
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Deafness, Autosomal Dominant 70

  • DFNA70

  • Autosomal Dominant Nonsyndromic Deafness 70

  • Autosomal Dominant Deafness 70

  • Deafness, Autosomal Dominant, 70
Developmental And Epileptic Encephalopathy 44

  • DEE44

  • Epileptic Encephalopathy, Early Infantile, 44

  • Eiee44

  • Developmental And Epileptic Encephalopathy, 44

  • Early Infantile Epileptic Encephalopathy 44

  • Encephalopathy, Epileptic, Early Infantile, Type 44
Nervous System Disease

  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder
Schwartz-Jampel Syndrome, Type 1

  • Schwartz-Jampel Syndrome

  • SJS1

  • Schwartz-Jampel-Aberfeld Syndrome

  • Sjs

  • Chondrodystrophic Myotonia

  • Schwartz-Jampel Syndrome Type 1

  • Sja Syndrome

  • Aberfeld Syndrome

  • Burton Skeletal Dysplasia

  • Burton Syndrome

  • Catel-Hempel Syndrome

  • Myotonic Chondrodystrophy

  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies

  • Osteochondromuscular Dystrophy

  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities

  • Schwartz-Jampel Syndrome 1

  • Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type

  • Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria

  • Schwartz Jampel Syndrome

  • Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities

  • Schwartz Jampel Aberfeld Syndrome

  • Congenital Blepharophimosis, Myopia, Myopathy Syndrome

  • Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15418 UFSP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21801 Ufsp2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28317 Ufsp2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta UFSP2 VGNC VGNC:107119
Felis catus UFSP2 VGNC VGNC:107074
Mus musculus UFSP2 MGD MGI:1913679
Rattus norvegicus UFSP2 RGD RGD:1311161
Canis familiaris UFSP2 VGNC VGNC:51837
Bos taurus UFSP2 VGNC VGNC:107014
Others UFSP2 NCBI