UniProtKB - Q8IZK6 (MCLN2_HUMAN)
Mucolipin-2
MCOLN2
Functioni
Activity regulationi
GO - Molecular functioni
- identical protein binding Source: Ensembl
- NAADP-sensitive calcium-release channel activity Source: GO_Central
GO - Biological processi
- adaptive immune response Source: UniProtKB-KW
- calcium ion transmembrane transport Source: Reactome
- innate immune response Source: UniProtKB-KW
- macrophage migration Source: Ensembl
- neutrophil migration Source: Ensembl
- positive regulation of chemokine (C-C motif) ligand 5 production Source: Ensembl
- positive regulation of chemokine (C-X-C motif) ligand 2 production Source: Ensembl
- positive regulation of macrophage inflammatory protein 1 alpha production Source: Ensembl
- positive regulation of monocyte chemotactic protein-1 production Source: Ensembl
- protein transport Source: UniProtKB-KW
Keywordsi
Molecular function | Calcium channel, Ion channel |
Biological process | Adaptive immunity, Calcium transport, Immunity, Innate immunity, Ion transport, Protein transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q8IZK6 |
Reactomei | R-HSA-3295583, TRP channels |
Protein family/group databases
TCDBi | 1.A.5.3.3, the polycystin cation channel (pcc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mucolipin-2Alternative name(s): Transient receptor potential channel mucolipin 2 Short name: TRPML2 |
Gene namesi | Name:MCOLN2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13357, MCOLN2 |
MIMi | 607399, gene |
neXtProti | NX_Q8IZK6 |
VEuPathDBi | HostDB:ENSG00000153898.12 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein By similarity
Endosome
- Late endosome membrane 1 Publication; Multi-pass membrane protein By similarity
- Recycling endosome membrane 1 Publication; Multi-pass membrane protein By similarity
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein By similarity
Note: Localizes to recycling endosomes in activated macrophages and microglia.By similarity
Endosome
- late endosome membrane Source: UniProtKB-SubCell
- recycling endosome membrane Source: UniProtKB-SubCell
Lysosome
- lysosome Source: UniProtKB-KW
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 65 | CytoplasmicBy similarityAdd BLAST | 65 | |
Transmembranei | 66 – 86 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 87 – 288 | ExtracellularBy similarityAdd BLAST | 202 | |
Transmembranei | 289 – 309 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 310 – 346 | CytoplasmicBy similarityAdd BLAST | 37 | |
Transmembranei | 347 – 367 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 368 – 376 | ExtracellularBy similarity | 9 | |
Transmembranei | 377 – 397 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 398 – 419 | CytoplasmicBy similarityAdd BLAST | 22 | |
Transmembranei | 420 – 440 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 441 – 448 | ExtracellularBy similarity | 8 | |
Intramembranei | 449 – 469 | Pore-formingBy similarityAdd BLAST | 21 | |
Topological domaini | 470 – 480 | ExtracellularBy similarityAdd BLAST | 11 | |
Transmembranei | 481 – 502 | HelicalBy similarityAdd BLAST | 22 | |
Topological domaini | 503 – 566 | CytoplasmicBy similarityAdd BLAST | 64 |
Keywords - Cellular componenti
Cell membrane, Endosome, Lysosome, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 424 | A → P: Constitutive active Ca(2+) permeable and inward rectifying channel. 1 Publication | 1 | |
Mutagenesisi | 457 | F → L: Does not effect current amplitude; possible effect on regulation. 1 Publication | 1 | |
Mutagenesisi | 463 – 464 | DD → KK: Blocks channel activity. Decreases recycling of internalized CD59 to the cell surface. 2 Publications | 2 |
Organism-specific databases
DisGeNETi | 255231 |
OpenTargetsi | ENSG00000153898 |
PharmGKBi | PA134913691 |
Miscellaneous databases
Pharosi | Q8IZK6, Tbio |
Chemistry databases
GuidetoPHARMACOLOGYi | 502 |
Genetic variation databases
BioMutai | MCOLN2 |
DMDMi | 212276802 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215365 | 1 – 566 | Mucolipin-2Add BLAST | 566 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 164 ↔ 190 | By similarity | ||
Disulfide bondi | 243 ↔ 274 | By similarity |
Keywords - PTMi
Disulfide bondProteomic databases
MassIVEi | Q8IZK6 |
PaxDbi | Q8IZK6 |
PeptideAtlasi | Q8IZK6 |
PRIDEi | Q8IZK6 |
ProteomicsDBi | 71363 [Q8IZK6-1] 71364 [Q8IZK6-2] |
PTM databases
iPTMneti | Q8IZK6 |
PhosphoSitePlusi | Q8IZK6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000153898, Expressed in tibia and 149 other tissues |
ExpressionAtlasi | Q8IZK6, baseline and differential |
Genevisiblei | Q8IZK6, HS |
Organism-specific databases
HPAi | ENSG00000153898, Tissue enhanced (blood, epididymis, lymphoid tissue) |
Interactioni
Subunit structurei
Forms homooligomeric complexes; probably tetrameric (By similarity). Can heterooligomerize with MCOLN1; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific (PubMed:19885840).
Interacts with TMEM176A (PubMed:25130899).
By similarity2 PublicationsGO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 129087, 28 interactors |
IntActi | Q8IZK6, 1 interactor |
STRINGi | 9606.ENSP00000359640 |
Miscellaneous databases
RNActi | Q8IZK6, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | Q8IZK6 |
SMRi | Q8IZK6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 107 – 123 | Extracellular/lumenal pore loopBy similarityAdd BLAST | 17 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 461 – 464 | Selectivity filterBy similarity | 4 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3733, Eukaryota |
GeneTreei | ENSGT00950000183036 |
HOGENOMi | CLU_020945_1_1_1 |
InParanoidi | Q8IZK6 |
OMAi | MARQPYR |
OrthoDBi | 1379516at2759 |
PhylomeDBi | Q8IZK6 |
TreeFami | TF317783 |
Family and domain databases
InterProi | View protein in InterPro IPR039031, Mucolipin IPR013122, PKD1_2_channel |
PANTHERi | PTHR12127, PTHR12127, 1 hit |
Pfami | View protein in Pfam PF08016, PKD_channel, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MARQPYRFPQ ARIPERGSGV FRLTVRNAMA HRDSEMKEEC LREDLKFYFM
60 70 80 90 100
SPCEKYRARR QIPWKLGLQI LKIVMVTTQL VRFGLSNQLV VAFKEDNTVA
110 120 130 140 150
FKHLFLKGYS GTDEDDYSCS VYTQEDAYES IFFAINQYHQ LKDITLGTLG
160 170 180 190 200
YGENEDNRIG LKVCKQHYKK GTMFPSNETL NIDNDVELDC VQLDLQDLSK
210 220 230 240 250
KPPDWKNSSF FRLEFYRLLQ VEISFHLKGI DLQTIHSREL PDCYVFQNTI
260 270 280 290 300
IFDNKAHSGK IKIYFDSDAK IEECKDLNIF GSTQKNAQYV LVFDAFVIVI
310 320 330 340 350
CLASLILCTR SIVLALRLRK RFLNFFLEKY KRPVCDTDQW EFINGWYVLV
360 370 380 390 400
IISDLMTIIG SILKMEIKAK NLTNYDLCSI FLGTSTLLVW VGVIRYLGYF
410 420 430 440 450
QAYNVLILTM QASLPKVLRF CACAGMIYLG YTFCGWIVLG PYHDKFENLN
460 470 480 490 500
TVAECLFSLV NGDDMFATFA QIQQKSILVW LFSRLYLYSF ISLFIYMILS
510 520 530 540 550
LFIALITDSY DTIKKFQQNG FPETDLQEFL KECSSKEEYQ KESSAFLSCI
560
CCRRRKRSDD HLIPIS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketG5EA24 | G5EA24_HUMAN | Mucolipin 2, isoform CRA_a | MCOLN2 hCG_2039430 | 249 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052394 | 365 | M → V. Corresponds to variant dbSNP:rs17117841EnsemblClinVar. | 1 | |
Natural variantiVAR_052395 | 370 | K → Q. Corresponds to variant dbSNP:rs6704203EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_034642 | 1 – 28 | Missing in isoform 2. 1 PublicationAdd BLAST | 28 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY083533 mRNA Translation: AAM08926.1 AL139150 Genomic DNA No translation available. CH471097 Genomic DNA Translation: EAW73221.1 BC104891 mRNA Translation: AAI04892.1 BC104893 mRNA Translation: AAI04894.1 AK094010 mRNA Translation: BAC04267.1 Sequence problems. |
CCDSi | CCDS30762.1 [Q8IZK6-1] CCDS81347.1 [Q8IZK6-2] |
RefSeqi | NP_001317576.1, NM_001330647.1 [Q8IZK6-2] NP_694991.2, NM_153259.3 [Q8IZK6-1] XP_005270776.1, XM_005270719.3 [Q8IZK6-2] XP_011539489.1, XM_011541187.2 [Q8IZK6-2] XP_011539490.1, XM_011541188.2 [Q8IZK6-2] |
Genome annotation databases
Ensembli | ENST00000284027; ENSP00000284027; ENSG00000153898 [Q8IZK6-2] ENST00000370608; ENSP00000359640; ENSG00000153898 [Q8IZK6-1] |
GeneIDi | 255231 |
KEGGi | hsa:255231 |
UCSCi | uc001dkm.4, human [Q8IZK6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY083533 mRNA Translation: AAM08926.1 AL139150 Genomic DNA No translation available. CH471097 Genomic DNA Translation: EAW73221.1 BC104891 mRNA Translation: AAI04892.1 BC104893 mRNA Translation: AAI04894.1 AK094010 mRNA Translation: BAC04267.1 Sequence problems. |
CCDSi | CCDS30762.1 [Q8IZK6-1] CCDS81347.1 [Q8IZK6-2] |
RefSeqi | NP_001317576.1, NM_001330647.1 [Q8IZK6-2] NP_694991.2, NM_153259.3 [Q8IZK6-1] XP_005270776.1, XM_005270719.3 [Q8IZK6-2] XP_011539489.1, XM_011541187.2 [Q8IZK6-2] XP_011539490.1, XM_011541188.2 [Q8IZK6-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6HRR | X-ray | 2.00 | A/B | 92-282 | [»] | |
6HRS | X-ray | 2.95 | A/B/C/D/E/F/G/H | 86-284 | [»] | |
SASBDBi | Q8IZK6 | |||||
SMRi | Q8IZK6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 129087, 28 interactors |
IntActi | Q8IZK6, 1 interactor |
STRINGi | 9606.ENSP00000359640 |
Chemistry databases
GuidetoPHARMACOLOGYi | 502 |
Protein family/group databases
TCDBi | 1.A.5.3.3, the polycystin cation channel (pcc) family |
PTM databases
iPTMneti | Q8IZK6 |
PhosphoSitePlusi | Q8IZK6 |
Genetic variation databases
BioMutai | MCOLN2 |
DMDMi | 212276802 |
Proteomic databases
MassIVEi | Q8IZK6 |
PaxDbi | Q8IZK6 |
PeptideAtlasi | Q8IZK6 |
PRIDEi | Q8IZK6 |
ProteomicsDBi | 71363 [Q8IZK6-1] 71364 [Q8IZK6-2] |
Protocols and materials databases
Antibodypediai | 19780, 44 antibodies |
Genome annotation databases
Ensembli | ENST00000284027; ENSP00000284027; ENSG00000153898 [Q8IZK6-2] ENST00000370608; ENSP00000359640; ENSG00000153898 [Q8IZK6-1] |
GeneIDi | 255231 |
KEGGi | hsa:255231 |
UCSCi | uc001dkm.4, human [Q8IZK6-1] |
Organism-specific databases
CTDi | 255231 |
DisGeNETi | 255231 |
GeneCardsi | MCOLN2 |
HGNCi | HGNC:13357, MCOLN2 |
HPAi | ENSG00000153898, Tissue enhanced (blood, epididymis, lymphoid tissue) |
MIMi | 607399, gene |
neXtProti | NX_Q8IZK6 |
OpenTargetsi | ENSG00000153898 |
PharmGKBi | PA134913691 |
VEuPathDBi | HostDB:ENSG00000153898.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3733, Eukaryota |
GeneTreei | ENSGT00950000183036 |
HOGENOMi | CLU_020945_1_1_1 |
InParanoidi | Q8IZK6 |
OMAi | MARQPYR |
OrthoDBi | 1379516at2759 |
PhylomeDBi | Q8IZK6 |
TreeFami | TF317783 |
Enzyme and pathway databases
PathwayCommonsi | Q8IZK6 |
Reactomei | R-HSA-3295583, TRP channels |
Miscellaneous databases
BioGRID-ORCSi | 255231, 5 hits in 980 CRISPR screens |
ChiTaRSi | MCOLN2, human |
GeneWikii | MCOLN2 |
GenomeRNAii | 255231 |
Pharosi | Q8IZK6, Tbio |
PROi | PR:Q8IZK6 |
RNActi | Q8IZK6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000153898, Expressed in tibia and 149 other tissues |
ExpressionAtlasi | Q8IZK6, baseline and differential |
Genevisiblei | Q8IZK6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039031, Mucolipin IPR013122, PKD1_2_channel |
PANTHERi | PTHR12127, PTHR12127, 1 hit |
Pfami | View protein in Pfam PF08016, PKD_channel, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MCLN2_HUMAN | |
Accessioni | Q8IZK6Primary (citable) accession number: Q8IZK6 Secondary accession number(s): A6NI99 Q8N9R3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | July 22, 2008 | |
Last modified: | April 7, 2021 | |
This is version 145 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families