1. Gene
  2. UFSP2 - UFM1 specific peptidase 2 Gene

UFSP2 - UFM1 specific peptidase 2 Gene

Homo sapiens

Also known as BHD; DEE106; SEMDDR; C4orf20

Gene ID: 55325 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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 Reference
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

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

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