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1.A.5.3.3
Mucolipin-2 (TRPML2) non-selective plasma membrane cation channel (Ca2+ permeable). Shows inward rectification like TRPML1 and TRPML3 (Lev et al., 2010). Induces cell degeneration. Causes embryonic lethality, pigmentation defects and deafness, and regulates the acidification of early endosomes (Noben-Trauth, 2011). Found in the plasma membrane and early- and late-endosomes as well as lysosomes.  Activated by a transient reduction of extracellular sodium followed by sodium replenishment, by small chemicals related to sulfonamides, and by PI(3,5)P2, a rare phosphoinositide that naturally accumulates in the membranes of endosomes and lysosomes, and thus could act as a physiologically relevant agonist (García-Añoveros and Wiwatpanit 2014).  TRPML2 can form heteromultimers with TRPML1 and TRPML3; in B-lymphocytes, TRPML2 and TRPML1 may play redundant roles.  TRPML2 may play a role in immune cell development and inflammatory responses (Cuajungco et al. 2015). The TRPML family hallmark is a large extracytosolic/lumenal domain (ELD) between TMSs S1 and S2. Viet et al. 2019 presented crystal structures of the tetrameric human TRPML2 ELD. The structures reveal structural responses to the conditions the TRPML2 ELD encounters as the channel traffics through the endolysosomal system.

Accession Number:Q8IZK6
Protein Name:Mucolipin-2
Length:566
Molecular Weight:65942.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:7
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Ca2+

Cross database links:

Genevestigator: Q8IZK6
eggNOG: prNOG06857
HEGENOM: HBG444433
Entrez Gene ID: 255231   
Pfam: PF08016   
KEGG: hsa:255231   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005216 F:ion channel activity

References (4)

[1] “Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.”  Di Palma F.et.al.   12403827
[2] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MARQPYRFPQ ARIPERGSGV FRLTVRNAMA HRDSEMKEEC LREDLKFYFM SPCEKYRARR 
61:	QIPWKLGLQI LKIVMVTTQL VRFGLSNQLV VAFKEDNTVA FKHLFLKGYS GTDEDDYSCS 
121:	VYTQEDAYES IFFAINQYHQ LKDITLGTLG YGENEDNRIG LKVCKQHYKK GTMFPSNETL 
181:	NIDNDVELDC VQLDLQDLSK KPPDWKNSSF FRLEFYRLLQ VEISFHLKGI DLQTIHSREL 
241:	PDCYVFQNTI IFDNKAHSGK IKIYFDSDAK IEECKDLNIF GSTQKNAQYV LVFDAFVIVI 
301:	CLASLILCTR SIVLALRLRK RFLNFFLEKY KRPVCDTDQW EFINGWYVLV IISDLMTIIG 
361:	SILKMEIKAK NLTNYDLCSI FLGTSTLLVW VGVIRYLGYF QAYNVLILTM QASLPKVLRF 
421:	CACAGMIYLG YTFCGWIVLG PYHDKFENLN TVAECLFSLV NGDDMFATFA QIQQKSILVW 
481:	LFSRLYLYSF ISLFIYMILS LFIALITDSY DTIKKFQQNG FPETDLQEFL KECSSKEEYQ 
541:	KESSAFLSCI CCRRRKRSDD HLIPIS