• Gene id: 23190

Gene Summary

• Gene Symbol: UBXN4   Gene   UCSC   Ensembl
• Aliases: UBXD2, UBXDC1, erasin
• Gene name: UBX domain protein 4
• Alternate names: UBX domain-containing protein 4, UBX domain containing 2, UBX domain-containing 1, UBX domain-containing protein 2,
• Gene location: 2q21.3 (135741854: 135785055)     Exons: 13     NC_000002.12
• Gene summary(Entrez): UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]
• OMIM: 611216

Protein Summary

• Protein general information: Q92575  
  • Name: UBX domain containing protein 4 (Erasin) (UBX domain containing protein 2)
  • Length: 508  
  • Mass: 56778
  • Tissue specificity: Expressed in many tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Accumulates in Alzheimer disease-afflicted brains (at protein level). {ECO
• Sequence:

  MLWFQGAIPAAIATAKRSGAVFVVFVAGDDEQSTQMAASWEDDKVTEASSNSFVAIKIDTKSEACLQFSQIYPVV
  CVPSSFFIGDSGIPLEVIAGSVSADELVTRIHKVRQMHLLKSETSVANGSQSESSVSTPSASFEPNNTCENSQSR
  NAELCEIPPTSDTKSDTATGGESAGHATSSQEPSGCSDQRPAEDLNIRVERLTKKLEERREEKRKEEEQREIKKE
  IERRKTGKEMLDYKRKQEEELTKRMLEERNREKAEDRAARERIKQQIALDRAERAARFAKTKEEVEAAKAAALLA
  KQAEMEVKRESYARERSTVARIQFRLPDGSSFTNQFPSDAPLEEARQFAAQTVGNTYGNFSLATMFPRREFTKED
  YKKKLLDLELAPSASVVLLPAGRPTASIVHSSSGDIWTLLGTVLYPFLAIWRLISNFLFSNPPPTQTSVRVTSSE
  PPNPASSSKSEKREPVRKRVLEKRGDDFKKEGKIYRLRTQDDGEDENNTWNGNSTQQM

• Structural information:
  • Protein Domains: (315..39-)
    (/note="UBX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00215"-)
  • Interpro: IPR036249  IPR029071  IPR001012  
  • Prosite: PS50033
  • PDB: 2KXJ
  • PDBsum: 2KXJ
  • STRING: ENSP00000272638
• Other Databases: GeneCards:  UBXN4  Malacards:  UBXN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006986	response to unfolded protein	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881