• Gene id: 337867

Gene Summary

• Gene Symbol: UBAC2   Gene   UCSC   Ensembl
• Aliases: PHGDHL1
• Gene name: UBA domain containing 2
• Alternate names: ubiquitin-associated domain-containing protein 2, RP11-178C10.1, UBA domain-containing protein 2, phosphoglycerate dehydrogenase like 1, phosphoglycerate dehydrogenase-like protein 1,
• Gene location: 13q32.3 (165768921: 165724290)     Exons: 7     NC_000001.11

Protein Summary

• Protein general information: Q8NBM4  
  • Name: Ubiquitin associated domain containing protein 2 (UBA domain containing protein 2) (Phosphoglycerate dehydrogenase like protein 1)
  • Length: 344  
  • Mass: 38964
• Sequence:

  MFTSTGSSGLYKAPLSKSLLLVPSALSLLLALLLPHCQKLFVYDLHAVKNDFQIWRLICGRIICLDLKDTFCSSL
  LIYNFRIFERRYGSRKFASFLLGSWVLSALFDFLLIEAMQYFFGITAASNLPSGFLAPVFALFVPFYCSIPRVQV
  AQILGPLSITNKTLIYILGLQLFTSGSYIWIVAISGLMSGLCYDSKMFQVHQVLCIPSWMAKFFSWTLEPIFSSS
  EPTSEARIGMGATLDIQRQQRMELLDRQLMFSQFAQGRRQRQQQGGMINWNRLFPPLRQRQNVNYQGGRQSEPAA
  PPLEVSEEQVARLMEMGFSRGDALEALRASNNDLNVATNFLLQH

• Structural information:
  • Protein Domains: (304..34-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR015940  IPR009060  IPR041928  
  • Prosite: PS50030
  • CDD: cd14305
  • STRING: ENSP00000383911
• Other Databases: GeneCards:  UBAC2  Malacards:  UBAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070972	protein localization to endoplasmic reticulum	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray