• Gene id: 28956

Gene Summary

• Gene Symbol: LAMTOR2   Gene   UCSC   Ensembl
• Aliases: ENDAP, HSPC003, MAPBPIP, MAPKSP1AP, ROBLD3, Ragulator2, p14
• Gene name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
• Alternate names: ragulator complex protein LAMTOR2, MAPBP-interacting protein, MAPKSP1 adaptor protein, endosomal adaptor protein p14, late endosomal/lysosomal Mp1-interacting protein, late endosomal/lysosomal adaptor and MAPK and MTOR activator 2, mitogen-activated protein-bin,
• Gene location: 1q22 (75522468: 75546991)     Exons: 3     NC_000014.9
• Gene summary(Entrez): The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway.
• OMIM: 610389

Protein Summary

• Protein general information: Q9Y2Q5  
  • Name: Ragulator complex protein LAMTOR2 (Endosomal adaptor protein p14) (Late endosomal/lysosomal Mp1 interacting protein) (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2) (Mitogen activated protein binding protein interacting protein) (MAPBP in
  • Length: 125  
  • Mass: 13508
• Sequence:

  MLRPKALTQVLSQANTGGVQSTLLLNNEGSLLAYSGYGDTDARVTAAIASNIWAAYDRNGNQAFNEDNLKFILMD
  CMEGRVAITRVANLLLCMYAKETVGFGMLKAKAQALVQYLEEPLTQVAAS

• Structural information:
  • Interpro: IPR037587  IPR004942  
  • PDB: 5X6U 5X6V 5Y39 5Y3A 6B9X 6EHP 6EHR 6NZD 6U62 6ULG
  • PDBsum: 5X6U 5X6V 5Y39 5Y3A 6B9X 6EHP 6EHR 6NZD 6U62 6ULG
  • DIP: 57000
  • STRING: ENSP00000357288
• Other Databases: GeneCards:  LAMTOR2  Malacards:  LAMTOR2

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
P14 deficiency	KEGG:H01218
P14 deficiency	KEGG:H01218
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq