• Gene id: 55846

Gene Summary

• Gene Symbol: ITFG2   Gene   UCSC   Ensembl
• Aliases: FGGAP1, MDS028
• Gene name: integrin alpha FG-GAP repeat containing 2
• Alternate names: KICSTOR complex protein ITFG2, FG-GAP repeat containing 1, integrin-alpha FG-GAP repeat-containing protein 2,
• Gene location: 12p13.33 (2812643: 2859906)     Exons: 20     NC_000012.12
• OMIM: 607750

Protein Summary

• Protein general information: Q969R8  
  • Name: KICSTOR complex protein ITFG2 (Integrin alpha FG GAP repeat containing protein 2)
  • Length: 447  
  • Mass: 49313
• Sequence:

  MRSVSYVQRVALEFSGSLFPHAICLGDVDNDTLNELVVGDTSGKVSVYKNDDSRPWLTCSCQGMLTCVGVGDVCN
  KGKNLLVAVSAEGWFHLFDLTPAKVLDASGHHETLIGEEQRPVFKQHIPANTKVMLISDIDGDGCRELVVGYTDR
  VVRAFRWEELGEGPEHLTGQLVSLKKWMLEGQVDSLSVTLGPLGLPELMVSQPGCAYAILLCTWKKDTGSPPASE
  GPTDGSRETPAARDVVLHQTSGRIHNKNVSTHLIGNIKQGHGTESSGSGLFALCTLDGTLKLMEEMEEADKLLWS
  VQVDHQLFALEKLDVTGNGHEEVVACAWDGQTYIIDHNRTVVRFQVDENIRAFCAGLYACKEGRNSPCLVYVTFN
  QKIYVYWEVQLERMESTNLVKLLETKPEYHSLLQELGVDPDDLPVTRALLHQTLYHPDQPPQCAPSSLQDPT

• Structural information:
  • Interpro: IPR031793  IPR036322  
  • STRING: ENSP00000228799
• Other Databases: GeneCards:  ITFG2  Malacards:  ITFG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032006	regulation of TOR signaling	IBA	biological process
GO:0140007	KICSTOR complex	IBA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0140007	KICSTOR complex	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002314	germinal center B cell differentiation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0032006	regulation of TOR signaling	IBA	biological process
GO:0140007	KICSTOR complex	IBA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0140007	KICSTOR complex	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002314	germinal center B cell differentiation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray