UFSP2 Chromosome 4
UFM1 specific peptidase 2
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What This Gene Does
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]
Associated Conditions (18)
Microcephaly
Intellectual disability
Seizure
Focal-onset seizure
Epileptic encephalopathy
Severe global developmental delay
Abnormality of the nervous system
UFSP2-related neurodevelopmental disorder
Olivopontocerebellar hypoplasia
Developmental and epileptic encephalopathy 106
Developmental and epileptic encephalopathy
1
Hip dysplasia
Beukes type
Spondyloepimetaphyseal dysplasia
di rocco type
Developmental dysplasia of the hip
Cerebral visual impairment and intellectual disability
Key Variants
RS142500730
Conflicting classifications of pathogenicity
Microcephaly, Intellectual disability, Seizure
Health Risk
RS2095515802
Likely pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2477666289
Likely pathogenic
Developmental dysplasia of the hip, Developmental dysplasia of the hip
Health Risk
RS544351411
Likely pathogenic
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
Health Risk
RS1554022725
Pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type, Hip dysplasia
Health Risk
RS2153279702
Pathogenic
Spondyloepimetaphyseal dysplasia, di rocco type, Spondyloepimetaphyseal dysplasia
Health Risk
RS760594879
Pathogenic
Developmental and epileptic encephalopathy 106, Developmental and epileptic encephalopathy 106
Health Risk
RS796052130
Pathogenic
Hip dysplasia, Beukes type, Hip dysplasia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142500730 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Intellectual disability, Seizure |
| RS2095515802 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, di rocco type, Spondyloepimetaphyseal dysplasia |
| RS2477666289 | Health Risk | Likely pathogenic | Developmental dysplasia of the hip, Developmental dysplasia of the hip |
| RS544351411 | Health Risk | Likely pathogenic | Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS1554022725 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, di rocco type, Hip dysplasia |
| RS2153279702 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, di rocco type, Spondyloepimetaphyseal dysplasia |
| RS760594879 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 106, Developmental and epileptic encephalopathy 106 |
| RS796052130 | Health Risk | Pathogenic | Hip dysplasia, Beukes type, Hip dysplasia |