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UniProtKB - Q8IZK6 (MCLN2_HUMAN)

Entry version 145 (07 Apr 2021)
Sequence version 2 (22 Jul 2008)
Previous versions | rss
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Protein

Mucolipin-2

Gene

MCOLN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca2+-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840).By similarityCurated3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Channel activity is reduced by low extracellular/lumenal pH level (PubMed:19940139).Curated1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel
Biological processAdaptive immunity, Calcium transport, Immunity, Innate immunity, Ion transport, Protein transport, Transport
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IZK6

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3295583, TRP channels

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.5.3.3, the polycystin cation channel (pcc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mucolipin-2
Alternative name(s):
Transient receptor potential channel mucolipin 2
Short name:
TRPML2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MCOLN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13357, MCOLN2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607399, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IZK6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000153898.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 65CytoplasmicBy similarityAdd BLAST65
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei66 – 86HelicalBy similarityAdd BLAST21
Topological domaini87 – 288ExtracellularBy similarityAdd BLAST202
Transmembranei289 – 309HelicalBy similarityAdd BLAST21
Topological domaini310 – 346CytoplasmicBy similarityAdd BLAST37
Transmembranei347 – 367HelicalBy similarityAdd BLAST21
Topological domaini368 – 376ExtracellularBy similarity9
Transmembranei377 – 397HelicalBy similarityAdd BLAST21
Topological domaini398 – 419CytoplasmicBy similarityAdd BLAST22
Transmembranei420 – 440HelicalBy similarityAdd BLAST21
Topological domaini441 – 448ExtracellularBy similarity8
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei449 – 469Pore-formingBy similarityAdd BLAST21
Topological domaini470 – 480ExtracellularBy similarityAdd BLAST11
Transmembranei481 – 502HelicalBy similarityAdd BLAST22
Topological domaini503 – 566CytoplasmicBy similarityAdd BLAST64

Keywords - Cellular componenti

Cell membrane, Endosome, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi424A → P: Constitutive active Ca(2+) permeable and inward rectifying channel. 1 Publication1
Mutagenesisi457F → L: Does not effect current amplitude; possible effect on regulation. 1 Publication1
Mutagenesisi463 – 464DD → KK: Blocks channel activity. Decreases recycling of internalized CD59 to the cell surface. 2 Publications2

Organism-specific databases

DisGeNET

More...DisGeNETi		255231

Open Targets

More...OpenTargetsi		ENSG00000153898

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134913691

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IZK6, Tbio

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		502

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MCOLN2

Domain mapping of disease mutations (DMDM)

More...DMDMi		212276802

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002153651 – 566Mucolipin-2Add BLAST566

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi164 ↔ 190By similarity
Disulfide bondi243 ↔ 274By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IZK6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8IZK6

PeptideAtlas

More...PeptideAtlasi		Q8IZK6

PRoteomics IDEntifications database

More...PRIDEi		Q8IZK6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71363 [Q8IZK6-1]
71364 [Q8IZK6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IZK6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8IZK6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000153898, Expressed in tibia and 149 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IZK6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IZK6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000153898, Tissue enhanced (blood, epididymis, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129087, 28 interactors

Protein interaction database and analysis system

More...IntActi		Q8IZK6, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359640

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IZK6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1566
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Small Angle Scattering Biological Data Bank

More...SASBDBi		Q8IZK6

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8IZK6

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni107 – 123Extracellular/lumenal pore loopBy similarityAdd BLAST17

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi461 – 464Selectivity filterBy similarity4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca2+ and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3733, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183036

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020945_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IZK6

Identification of Orthologs from Complete Genome Data

More...OMAi		MARQPYR

Database of Orthologous Groups

More...OrthoDBi		1379516at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IZK6

TreeFam database of animal gene trees

More...TreeFami		TF317783

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039031, Mucolipin
IPR013122, PKD1_2_channel

The PANTHER Classification System

More...PANTHERi		PTHR12127, PTHR12127, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08016, PKD_channel, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IZK6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:566
Mass (Da):65,942
Last modified:July 22, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6F017BA416624E63
GO
Isoform 2 (identifier: Q8IZK6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:538
Mass (Da):62,685
Checksum:i1BCCB92F8D6C83C4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5EA24G5EA24_HUMAN
Mucolipin 2, isoform CRA_a
MCOLN2 hCG_2039430
249Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04267 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052394365M → V. Corresponds to variant dbSNP:rs17117841EnsemblClinVar.1
Natural variantiVAR_052395370K → Q. Corresponds to variant dbSNP:rs6704203EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0346421 – 28Missing in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30762.1 [Q8IZK6-1]
CCDS81347.1 [Q8IZK6-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000284027; ENSP00000284027; ENSG00000153898 [Q8IZK6-2]
ENST00000370608; ENSP00000359640; ENSG00000153898 [Q8IZK6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		255231

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:255231

UCSC genome browser

More...UCSCi		uc001dkm.4, human [Q8IZK6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS30762.1 [Q8IZK6-1]
CCDS81347.1 [Q8IZK6-2]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6HRRX-ray2.00A/B92-282[»]
6HRSX-ray2.95A/B/C/D/E/F/G/H86-284[»]
SASBDBiQ8IZK6
SMRiQ8IZK6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi129087, 28 interactors
IntActiQ8IZK6, 1 interactor
STRINGi9606.ENSP00000359640

Chemistry databases

GuidetoPHARMACOLOGYi502

Protein family/group databases

TCDBi1.A.5.3.3, the polycystin cation channel (pcc) family

PTM databases

iPTMnetiQ8IZK6
PhosphoSitePlusiQ8IZK6

Genetic variation databases

BioMutaiMCOLN2
DMDMi212276802

Proteomic databases

MassIVEiQ8IZK6
PaxDbiQ8IZK6
PeptideAtlasiQ8IZK6
PRIDEiQ8IZK6
ProteomicsDBi71363 [Q8IZK6-1]
71364 [Q8IZK6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19780, 44 antibodies

Genome annotation databases

EnsembliENST00000284027; ENSP00000284027; ENSG00000153898 [Q8IZK6-2]
ENST00000370608; ENSP00000359640; ENSG00000153898 [Q8IZK6-1]
GeneIDi255231
KEGGihsa:255231
UCSCiuc001dkm.4, human [Q8IZK6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		255231
DisGeNETi255231

GeneCards: human genes, protein and diseases

More...GeneCardsi		MCOLN2
HGNCiHGNC:13357, MCOLN2
HPAiENSG00000153898, Tissue enhanced (blood, epididymis, lymphoid tissue)
MIMi607399, gene
neXtProtiNX_Q8IZK6
OpenTargetsiENSG00000153898
PharmGKBiPA134913691
VEuPathDBiHostDB:ENSG00000153898.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3733, Eukaryota
GeneTreeiENSGT00950000183036
HOGENOMiCLU_020945_1_1_1
InParanoidiQ8IZK6
OMAiMARQPYR
OrthoDBi1379516at2759
PhylomeDBiQ8IZK6
TreeFamiTF317783

Enzyme and pathway databases

PathwayCommonsiQ8IZK6
ReactomeiR-HSA-3295583, TRP channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		255231, 5 hits in 980 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MCOLN2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MCOLN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		255231
PharosiQ8IZK6, Tbio

Protein Ontology

More...PROi		PR:Q8IZK6
RNActiQ8IZK6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000153898, Expressed in tibia and 149 other tissues
ExpressionAtlasiQ8IZK6, baseline and differential
GenevisibleiQ8IZK6, HS

Family and domain databases

InterProiView protein in InterPro
IPR039031, Mucolipin
IPR013122, PKD1_2_channel
PANTHERiPTHR12127, PTHR12127, 1 hit
PfamiView protein in Pfam
PF08016, PKD_channel, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMCLN2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IZK6
Secondary accession number(s): A6NI99
, Q2M3I6, Q5TAG5, Q8N9R3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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