• Gene id: 146691

Gene Summary

• Gene Symbol: TOM1L2   Gene   UCSC   Ensembl
• Gene name: target of myb1 like 2 membrane trafficking protein
• Alternate names: TOM1-like protein 2, target of Myb-like protein 2, target of myb1-like 2,
• Gene location: 17p11.2 (17972405: 17843507)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding
• OMIM: 610461

Protein Summary

• Protein general information: Q6ZVM7  
  • Name: TOM1 like protein 2 (Target of Myb like protein 2)
  • Length: 507  
  • Mass: 55556
  • Tissue specificity: Ubiquitously expressed with higher expression in heart and skeletal muscle. {ECO
• Sequence:

  MEFLLGNPFSTPVGQCLEKATDGSLQSEDWTLNMEICDIINETEEGPKDAIRALKKRLNGNRNYREVMLALTVLE
  TCVKNCGHRFHILVANRDFIDSVLVKIISPKNNPPTIVQDKVLALIQAWADAFRSSPDLTGVVHIYEELKRKGVE
  FPMADLDALSPIHTPQRSVPEVDPAATMPRSQSQQRTSAGSYSSPPPAPYSAPQAPALSVTGPITANSEQIARLR
  SELDVVRGNTKVMSEMLTEMVPGQEDSSDLELLQELNRTCRAMQQRIVELISRVSNEEVTEELLHVNDDLNNVFL
  RYERFERYRSGRSVQNASNGVLNEVTEDNLIDLGPGSPAVVSPMVGNTAPPSSLSSQLAGLDLGTESVSGTLSSL
  QQCNPRDGFDMFAQTRGNSLAEQRKTVTYEDPQAVGGLASALDNRKQSSEGIPVAQPSVMDDIEVWLRTDLKGDD
  LEEGVTSEEFDKFLEERAKAAEMVPDLPSPPMEAPAPASNPSGRKKPERSEDALFAL

• Structural information:
  • Protein Domains: (20..15-)
    (/note="VHS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00218-)
    (219..30-)
    (/note="GAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00373"-)
  • Interpro: IPR008942  IPR004152  IPR038425  IPR014645  IPR027429   IPR002014  
  • Prosite: PS50909 PS50179
  • DIP: 61860
  • STRING: ENSP00000368818
• Other Databases: GeneCards:  TOM1L2  Malacards:  TOM1L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0030276	clathrin binding	IDA	molecular function
GO:0007165	signal transduction	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R