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Protein

Mucolipin-2

Gene

MCOLN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-3295583. TRP channels.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Mucolipin-2
Gene namesi
Name:MCOLN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13357. MCOLN2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
Transmembranei380 – 400HelicalSequence analysisAdd BLAST21
Transmembranei420 – 440HelicalSequence analysisAdd BLAST21
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi255231.
OpenTargetsiENSG00000153898.
PharmGKBiPA134913691.

Polymorphism and mutation databases

BioMutaiMCOLN2.
DMDMi212276802.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002153651 – 566Mucolipin-2Add BLAST566

Proteomic databases

PaxDbiQ8IZK6.
PeptideAtlasiQ8IZK6.
PRIDEiQ8IZK6.

PTM databases

PhosphoSitePlusiQ8IZK6.

Expressioni

Gene expression databases

BgeeiENSG00000153898.
CleanExiHS_MCOLN2.
ExpressionAtlasiQ8IZK6. baseline and differential.
GenevisibleiQ8IZK6. HS.

Organism-specific databases

HPAiHPA019114.
HPA048999.

Interactioni

Protein-protein interaction databases

BioGridi129087. 1 interactor.
STRINGi9606.ENSP00000359640.

Structurei

3D structure databases

ProteinModelPortaliQ8IZK6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3733. Eukaryota.
ENOG410Z1HH. LUCA.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8IZK6.
KOiK04993.
OMAiCKDWHIL.
OrthoDBiEOG091G026A.
PhylomeDBiQ8IZK6.
TreeFamiTF317783.

Family and domain databases

InterProiIPR013122. PKD1_2_channel.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
Note: No experimental confirmation available.
Length:566
Mass (Da):65,942
Last modified:July 22, 2008 - v2
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

Sequence cautioni

The sequence BAC04267 differs from that shown. Reason: Erroneous termination at position 64. Translated as Trp.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052394365M → V.Corresponds to variant rs17117841dbSNPEnsembl.1
Natural variantiVAR_052395370K → Q.Corresponds to variant rs6704203dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0346421 – 28Missing in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY083533 mRNA. Translation: AAM08926.1.
AL139150 Genomic DNA. Translation: CAI22348.1.
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.
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]
UniGeneiHs.591446.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY083533 mRNA. Translation: AAM08926.1.
AL139150 Genomic DNA. Translation: CAI22348.1.
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.
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]
UniGeneiHs.591446.

3D structure databases

ProteinModelPortaliQ8IZK6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129087. 1 interactor.
STRINGi9606.ENSP00000359640.

Protein family/group databases

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

PTM databases

PhosphoSitePlusiQ8IZK6.

Polymorphism and mutation databases

BioMutaiMCOLN2.
DMDMi212276802.

Proteomic databases

PaxDbiQ8IZK6.
PeptideAtlasiQ8IZK6.
PRIDEiQ8IZK6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi255231.
DisGeNETi255231.
GeneCardsiMCOLN2.
HGNCiHGNC:13357. MCOLN2.
HPAiHPA019114.
HPA048999.
MIMi607399. gene.
neXtProtiNX_Q8IZK6.
OpenTargetsiENSG00000153898.
PharmGKBiPA134913691.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3733. Eukaryota.
ENOG410Z1HH. LUCA.
GeneTreeiENSGT00390000017126.
HOGENOMiHOG000232158.
HOVERGENiHBG052430.
InParanoidiQ8IZK6.
KOiK04993.
OMAiCKDWHIL.
OrthoDBiEOG091G026A.
PhylomeDBiQ8IZK6.
TreeFamiTF317783.

Enzyme and pathway databases

ReactomeiR-HSA-3295583. TRP channels.

Miscellaneous databases

GeneWikiiMCOLN2.
GenomeRNAii255231.
PROiQ8IZK6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153898.
CleanExiHS_MCOLN2.
ExpressionAtlasiQ8IZK6. baseline and differential.
GenevisibleiQ8IZK6. HS.

Family and domain databases

InterProiIPR013122. PKD1_2_channel.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMCLN2_HUMAN
AccessioniPrimary (citable) accession number: Q8IZK6
Secondary accession number(s): A6NI99
, Q2M3I6, Q5TAG5, Q8N9R3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 22, 2008
Last modified: November 30, 2016
This is version 112 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.