• Gene id: 255231

Gene Summary

• Gene Symbol: MCOLN2   Gene   UCSC   Ensembl
• Aliases: TRP-ML2, TRPML2
• Gene name: mucolipin 2
• Alternate names: mucolipin-2, transient receptor potential channel mucolipin 2,
• Gene location: 1p22.3 (84997112: 84925582)     Exons: 16     NC_000001.11
• Gene summary(Entrez): Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-mem
• OMIM: 610949

Protein Summary

• Protein general information: Q8IZK6  
  • Name: Mucolipin 2 (Transient receptor potential channel mucolipin 2) (TRPML2)
  • Length: 566  
  • Mass: 65942
• Sequence:

  MARQPYRFPQARIPERGSGVFRLTVRNAMAHRDSEMKEECLREDLKFYFMSPCEKYRARRQIPWKLGLQILKIVM
  VTTQLVRFGLSNQLVVAFKEDNTVAFKHLFLKGYSGTDEDDYSCSVYTQEDAYESIFFAINQYHQLKDITLGTLG
  YGENEDNRIGLKVCKQHYKKGTMFPSNETLNIDNDVELDCVQLDLQDLSKKPPDWKNSSFFRLEFYRLLQVEISF
  HLKGIDLQTIHSRELPDCYVFQNTIIFDNKAHSGKIKIYFDSDAKIEECKDLNIFGSTQKNAQYVLVFDAFVIVI
  CLASLILCTRSIVLALRLRKRFLNFFLEKYKRPVCDTDQWEFINGWYVLVIISDLMTIIGSILKMEIKAKNLTNY
  DLCSIFLGTSTLLVWVGVIRYLGYFQAYNVLILTMQASLPKVLRFCACAGMIYLGYTFCGWIVLGPYHDKFENLN
  TVAECLFSLVNGDDMFATFAQIQQKSILVWLFSRLYLYSFISLFIYMILSLFIALITDSYDTIKKFQQNGFPETD
  LQEFLKECSSKEEYQKESSAFLSCICCRRRKRSDDHLIPIS

• Structural information:
  • Interpro: IPR039031  IPR013122  
  • PDB: 6HRR 6HRS
  • PDBsum: 6HRR 6HRS
  • STRING: ENSP00000359640
• Other Databases: GeneCards:  MCOLN2  Malacards:  MCOLN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	NOT|cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	NOT|cellular component
GO:0005261	cation channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:2000343	positive regulation of chemokine (C-X-C motif) ligand 2 production	IEA	biological process
GO:1990266	neutrophil migration	IEA	biological process
GO:1905517	macrophage migration	IEA	biological process
GO:0071651	positive regulation of chemokine (C-C motif) ligand 5 production	IEA	biological process
GO:0071642	positive regulation of macrophage inflammatory protein 1 alpha production	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0035926	regulation of chemokine (C-X-C motif) ligand 2 production	IEA	biological process
GO:0032722	positive regulation of chemokine production	IEA	biological process
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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