• Gene id: 10586

Gene Summary

• Gene Symbol: MAB21L2   Gene   UCSC   Ensembl
• Aliases: MCOPS14, MCSKS14
• Gene name: mab-21 like 2
• Alternate names: protein mab-21-like 2,
• Gene location: 4q31.3 (150582150: 150584692)     Exons: 2     NC_000004.12
• Gene summary(Entrez): This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily n
• OMIM: 604357

Protein Summary

• Protein general information: Q9Y586  
  • Name: Protein mab 21 like 2
  • Length: 359  
  • Mass: 40923
• Sequence:

  MIAAQAKLVYQLNKYYTERCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLSEIDARYEGLEVISPTEFE
  VVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAVDKCSYRDVVK
  MIADTSEVKLRIRERYVVQITPAFKCTGIWPRSAAQWPMPHIPWPGPNRVAEVKAEGFNLLSKECYSLTGKQSSA
  ESDAWVLQFGEAENRLLMGGCRNKCLSVLKTLRDRHLELPGQPLNNYHMKTLLLYECEKHPRETDWDESCLGDRL
  NGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALESAAKQTWRLAREILTNPKSLDKL

• Structural information:
  • Interpro: IPR024810  IPR020950  IPR000772  
  • STRING: ENSP00000324701
• Other Databases: GeneCards:  MAB21L2  Malacards:  MAB21L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001654	eye development	IMP	biological process
GO:0001654	eye development	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010172	embryonic body morphogenesis	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Microphthalmia, syndromic	KEGG:H02170
Microphthalmia, syndromic	KEGG:H02170
Coloboma	PMID:25719200
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881