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Gene : UFSP2 Homo sapiens

Name  ? UFM1 specific peptidase 2 Cytological Location  4q35.1
Brief Description  UFM1 specific peptidase 2
description  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]
  • synonyms:
  • HGNC:25640,
  • SEMDDR,
  • chromosome 4 open reading frame 20,
  • FLJ11200,
  • NM_018359,
  • C4orf20,
  • BHD,
  • uc003ixo.3,
  • AK002062,
  • UFSP2,
  • OTTHUMG00000160441,
  • C4orf20
  • identifiers:
  • 55325,
  • ENSG00000109775,
  • UFSP2

Genome feature

Region: gene ? Length: 26449  
Location: 4:185399537-185425985 reverse strand Cyto location: 4q35.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

17 Data Sets

0 Homologues

0 Located Features

97 Rna Seq Results