• Gene id: 23241

Gene Summary

• Gene Symbol: PACS2   Gene   UCSC   Ensembl
• Aliases: EIEE66, PACS-2, PACS1L
• Gene name: phosphofurin acidic cluster sorting protein 2
• Alternate names: phosphofurin acidic cluster sorting protein 2, PACS1-like protein,
• Gene location: 14q32.33 (105300717: 105398146)     Exons: 26     NC_000014.9
• OMIM: 616650

Protein Summary

• Protein general information: Q86VP3  
  • Name: Phosphofurin acidic cluster sorting protein 2 (PACS 2) (PACS1 like protein)
  • Length: 889  
  • Mass: 97702
  • Tissue specificity: Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis. {ECO
• Sequence:

  MAERGRLGLPGAPGALNTPVPMNLFATWEVDGSSPSCVPRLCSLTLKKLVVFKELEKELISVVIAVKMQGSKRIL
  RSHEIVLPPSGQVETDLALTFSLQYPHFLKREGNKLQIMLQRRKRYKNRTILGYKTLAAGSISMAEVMQHPSEGG
  QVLSLCSSIKEAPVKAAEIWIASLSSQPIDHEDSTMQAGPKAKSTDNYSEEEYESFSSEQEASDDAVQGQDLDED
  DFDVGKPKKQRRSIVRTTSMTRQQNFKQKVVALLRRFKVSDEVLDSEQDPAEHIPEAEEDLDLLYDTLDMEHPSD
  SGPDMEDDDSVLSTPKPKLRPYFEGLSHSSSQTEIGSIHSARSHKEPPSPADVPEKTRSLGGRQPSDSVSDTVAL
  GVPGPREHPGQPEDSPEAEASTLDVFTERLPPSGRITKTESLVIPSTRSEGKQAGRRGRSTSLKERQAARPQNER
  ANSLDNERCPDARSQLQIPRKTVYDQLNHILISDDQLPENIILVNTSDWQGQFLSDVLQRHTLPVVCTCSPADVQ
  AAFSTIVSRIQRYCNCNSQPPTPVKIAVAGAQHYLSAILRLFVEQLSHKTPDWLGYMRFLVIPLGSHPVARYLGS
  VDYRYNNFFQDLAWRDLFNKLEAQSAVQDTPDIVSRITQYIAGANCAHQLPIAEAMLTYKQKSPDEESSQKFIPF
  VGVVKVGIVEPSSATSGDSDDAAPSGSGTLSSTPPSASPAAKEASPTPPSSPSVSGGLSSPSQGVGAELMGLQVD
  YWTAAQPADRKRDAEKKDLPVTKNTLKCTFRSLQVSRLPSSGEAAATPTMSMTVVTKEKNKKVMFLPKKAKDKDV
  ESKSQCIEGISRLICTARQQQNMLRVLIDGVECSDVKFFQLAAQWSSHVKHFPICIFGHSKATF

• Structural information:
  • Interpro: IPR019381  
  • STRING: ENSP00000393559
• Other Databases: GeneCards:  PACS2  Malacards:  PACS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IMP	biological process
GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	IMP	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0034497	protein localization to phagophore assembly site	IDA	biological process
GO:0000045	autophagosome assembly	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq