• Gene id: 219287

Gene Summary

• Gene Symbol: AMER2   Gene   UCSC   Ensembl
• Aliases: FAM123A
• Gene name: APC membrane recruitment protein 2
• Alternate names: APC membrane recruitment protein 2, family with sequence similarity 123A, protein FAM123A,
• Gene location: 13q12.13 (25172450: 25161678)     Exons: 3     NC_000013.11
• OMIM: 613383

Protein Summary

• Protein general information: Q8N7J2  
  • Name: APC membrane recruitment protein 2 (Amer2) (Protein FAM123A)
  • Length: 671  
  • Mass: 69507
• Sequence:

  METSRSRGGGGAVSERGGAGASVGVCRRKAEAGAGTGTLAADMDLHCDCAAETPAAEPPSGKINKAAFKLFKKRK
  SGGTMPSIFGVKNKGDGKSSGPTGLVRSRTHDGLAEVLVLESGRKEEPRGGGDSGGGGGGRPNPGPPRAAGPGGG
  SLASSSVAKSHSFFSLLKKNGRSENGKGEPVDASKAGGKQKRGLRGLFSGMRWHRKDKRAKAEAAEGRAPGGGLI
  LPGSLTASLECVKEETPRAAREPEEPSQDAPRDPAGEPAGGEEVPAPADRAPARSCREAEGLAHPGDTGARGEDA
  AGHRRAEPGPGEVRTAEDASRTGAVPVKTVPLVDSEGGSGRAPAAPDPASVDPPSDPSADRICLMFSDVTSLKSF
  DSLTGCGDIIADQEEEAGPSCDKHVPGPGKPALSKKNPGVVAYQGGGEEMASPDEVDDTYLQEFWDMLSQTEEQG
  PEPQEGAAKVAAALETKVVPETPKDTRCVEAAKDASSVKRRRLNRIPIEPHPKEEPKHPEKEQQEGVPNSDEGYW
  DSTTPGPEEDSSSSGKKAGIPRDSYSGDALYDLYADPDGSPATLPGGKDNEETSSLSRLKPVSPGTITCPLRTPG
  SLLKDSKIPISIKHLTNLPSSHPVVHQQPSRSEMPRTKIPVSKVLVRRVSNRGLAGTTIRATACHDSAKKL

• Structural information:
  • Interpro: IPR019003  
  • STRING: ENSP00000426528
• Other Databases: GeneCards:  AMER2  Malacards:  AMER2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0060828	regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0008013	beta-catenin binding	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0007398	ectoderm development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma 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