• Gene id: 221938

Gene Summary

• Gene Symbol: MMD2   Gene   UCSC   Ensembl
• Aliases: PAQR10
• Gene name: monocyte to macrophage differentiation associated 2
• Alternate names: monocyte to macrophage differentiation factor 2, monocyte-to-macrophage differentiation-associated protein 2, progestin and adipoQ receptor family member 10, progestin and adipoQ receptor family member X,
• Gene location: 7p22.1 (4959186: 4892244)     Exons: 10     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane doma

Protein Summary

• Protein general information: Q8IY49  
  • Name: Monocyte to macrophage differentiation factor 2 (Progestin and adipoQ receptor family member 10) (Progestin and adipoQ receptor family member X)
  • Length: 270  
  • Mass: 31264
  • Tissue specificity: Shows restricted expression with highest levels in brain and testis. {ECO
• Sequence:

  MFAPRLLDFQKTKYARFMNHRVPAHKRYQPTEYEHAANCATHAFWIIPSILGSSNLYFLSDDDWETISAWIYGLG
  LCGLFVVSTVFHTISWKKSHLRMVEHCLHMFDRMVIYFFIAASYAPWLNLRELGPWASHMRWLVWIMASVGTIYV
  FFFHERTGSCVQFLRGEACPKAGTACLPARYKLVELLCYVVMGFFPALVILSMPNTEGIWELVTGGVFYCLGMVF
  FKSDGRIPFAHAIWHLFVAFGAGTHYYAIWRYLYLPSTLQTKVSK

• Structural information:
  • Interpro: IPR004254  
  • STRING: ENSP00000384690
• Other Databases: GeneCards:  MMD2  Malacards:  MMD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004672	protein kinase activity	IDA	molecular function
GO:0045666	positive regulation of neuron differentiation	IDA	biological process
GO:0032880	regulation of protein localization	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IDA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray