• Gene id: 84684

Gene Summary

• Gene Symbol: INSM2   Gene   UCSC   Ensembl
• Aliases: IA-6, IA6, mlt1
• Gene name: INSM transcriptional repressor 2
• Alternate names: insulinoma-associated protein 2, INSM2 variant 1, insulinoma-associated 2, insulinoma-associated protein IA-6, zinc finger protein IA-6,
• Gene location: 14q13.2 (35534163: 35537053)     Exons: 1     NC_000014.9
• OMIM: 614027

Protein Summary

• Protein general information: Q96T92  
  • Name: Insulinoma associated protein 2 (Zinc finger protein IA 6)
  • Length: 566  
  • Mass: 59491
  • Tissue specificity: Expressed in heart, liver, skeletal muscle, kidney and pancreas, and, to a lesser extent, in brain, lung and spleen. In the pancreas, expressed in islet cells, including insulin- and glucagon-producing alpha- and beta-cells, but not in
• Sequence:

  MPRGFLVKRTKRTGGLYRVRLAERVFPLLGPQGAPPFLEEAPSASLPGAERATPPTREEPGKGLTAEAAREQSGS
  PCRAAGVSPGTGGREGAEWRAGGREGPGPSPSPSPSPAKPAGAELRRAFLERCLSSPVSAESFPGGAAAVAAFSC
  SVAPAAAPTPGEQFLLPLRAPFPEPALQPDPAPLSAALQSLKRAAGGERRGKAPTDCASGPAAAGIKKPKAMRKL
  SFADEVTTSPVLGLKIKEEEPGAPSRGLGGSRTPLGEFICQLCKEQYADPFALAQHRCSRIVRVEYRCPECDKVF
  SCPANLASHRRWHKPRPAAANAATVSSADGKPPSSSSSSSRDSGAIASFLAEGKENSRIERTADQHPQARDSSGA
  DQHPDSAPRQGLQVLTHPEPPLPQGPYTEGVLGRRVPVPGSTSGGRGSEIFVCPYCHKKFRRQAYLRKHLSTHEA
  GSARALAPGFGSERGAPLAFACPLCGAHFPTADIREKHRLWHAVREELLLPALAGAPPETSGPSGPSDGSAQQIF
  SCKHCPSTFFSSPGLTRHINKCHPSESRQVLLLQMPLRPGC

• Structural information:
  • Interpro: IPR042972  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000306523
• Other Databases: GeneCards:  INSM2  Malacards:  INSM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030182	neuron differentiation	IBA	biological process
GO:0017053	transcription repressor complex	IBA	cellular component
GO:0010564	regulation of cell cycle process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881