• Gene id: 84895

Gene Summary

• Gene Symbol: MIGA2   Gene   UCSC   Ensembl
• Aliases: C9orf54, FAM73B
• Gene name: mitoguardin 2
• Alternate names: mitoguardin 2, family with sequence similarity 73, member B, protein FAM73B,
• Gene location: 9q34.11 (129036604: 129072081)     Exons: 20     NC_000009.12
• OMIM: 146691

Protein Summary

• Protein general information: Q7L4E1  
  • Name: Mitoguardin 2 (Protein FAM73B)
  • Length: 593  
  • Mass: 65531
• Sequence:

  MAFRRAEGTSMIQALAMTVAEIPVFLYTTFGQSAFSQLRLTPGLRKVLFATALGTVALALAAHQLKRRRRRKKQV
  GPEMGGEQLGTVPLPILLARKVPSVKKGYSSRRVQSPSSKSNDTLSGISSIEPSKHSGSSHSVASMMAVNSSSPT
  AACSGLWDARGMEESLTTSDGNAESLYMQGMELFEEALQKWEQALSVGQRGDSGSTPMPRDGLRNPETASEPLSE
  PESQRKEFAEKLESLLHRAYHLQEEFGSTFPADSMLLDLERTLMLPLTEGSLRLRADDEDSLTSEDSFFSATELF
  ESLQTGDYPIPLSRPAAAYEEALQLVKEGRVPCRTLRTELLGCYSDQDFLAKLHCVRQAFEGLLEDKSNQLFFGK
  VGRQMVTGLMTKAEKSPKGFLESYEEMLSYALRPETWATTRLELEGRGVVCMSFFDIVLDFILMDAFEDLENPPA
  SVLAVLRNRWLSDSFKETALATACWSVLKAKRRLLMVPDGFISHFYSVSEHVSPVLAFGFLGPKPQLAEVCAFFK
  HQIVQYLRDMFDLDNVRYTSLPALADDILQLSRRRSEILLGYLGVPAASSAGVNGALPRENGPLGELQ

• Structural information:
  • Interpro: IPR019392  
  • STRING: ENSP00000351138
• Other Databases: GeneCards:  MIGA2  Malacards:  MIGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008053	mitochondrial fusion	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008053	mitochondrial fusion	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0060348	bone development	IEA	biological process
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq