MCOLN2
Mucolipin-2
Also known as: FLJ36691, MCLN2_HUMAN, TRP-ML2, TRPML2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IZK6
- Gene
- MCOLN2
- Ensembl
- ENSG00000153898
- Chromosome
- 1
- Canonical length
- 566 aa
- Protein class
- Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]
Canonical amino-acid sequenceUniProt
566 residues, UniProt reviewed canonical sequence.
>Q8IZK6|MCOLN2
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 HLIPISLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCOLN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- rectum: 14 nTPM
- tonsil: 12 nTPM
- lymph node: 12 nTPM
- colon: 9.5 nTPM
- adrenal gland: 8.5 nTPM
- spleen: 6.2 nTPM
Single-cell type
- cdc: 247 nCPM
- pdcs: 165 nCPM
- b-cells: 77 nCPM
- adrenal cortex cells: 69 nCPM
- endometrial luminal cells: 66 nCPM
- t-cells: 66 nCPM
Immune cell
- plasmacytoid DC: 30 nTPM
- memory B-cell: 10 nTPM
- memory CD8 T-cell: 8.8 nTPM
- myeloid DC: 7.1 nTPM
- gdT-cell: 5.9 nTPM
- memory CD4 T-cell: 5 nTPM
Brain region
- cerebellum: 2.5 nTPM
- choroid plexus: 2.5 nTPM
- medulla oblongata: 2.2 nTPM
- white matter: 2.2 nTPM
- thalamus: 2 nTPM
- cerebral cortex: 1.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.19
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.53
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- calcium ion transmembrane transport
- innate immune response
- macrophage migration
- neutrophil migration
- positive regulation of chemokine (C-C motif) ligand 5 production
- positive regulation of chemokine (C-X-C motif) ligand 2 production
- positive regulation of macrophage inflammatory protein 1 alpha production
- positive regulation of monocyte chemotactic protein-1 production
- protein transport
Molecular functions
- calcium channel activity
- identical protein binding
- iron ion transmembrane transporter activity
- NAADP-sensitive calcium-release channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCOLN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MCOLN2 as an antibody target. Whether an autoantibody or antibody against MCOLN2 could matter depends on whether native MCOLN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCOLN2 is annotated at the cell surface, where native MCOLN2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MCOLN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...