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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).

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:

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  • 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