MCOLN2 Gene
protein-coding GIFtS: 46
GCID: GC01M085391
|
|
mucolipin 2
| |
Aliases
for MCOLN2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mucolipin 21 2 | | TRP-ML21 2 | | TRPML21 2 | | FLJ366911 | | Mucolipin-21 |
Export aliases for MCOLN2 gene to outside databasesPrevious GC identifers: GC01M084529 GC01M084679 GC01M084814 GC01M084813 GC01M085103 GC01M083501 |
Summaries
for MCOLN2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MCOLN2:
Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potentialsuperfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila andC. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 (PubMed17662026)).(supplied by OMIM, Sep 2009)
Gene Wiki entry for MCOLN2
|
Genomic Views
for MCOLN2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MCOLN2 gene promoter:
AREB6 Max N-Myc Sp1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for MCOLN2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCOLN2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p22 Ensembl cytogenetic band: 1p22.3 HGNC cytogenetic band: 1p22MCOLN2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M085391: view genomic region
(about GC identifiers)
Start:
|
85,391,266 bp from pter |
End:
|
85,462,796 bp from pter |
Size:
|
71,531 bases |
Orientation:
|
minus strand |
|
Proteins
for MCOLN2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MCLN2_HUMAN, Q8IZK6 (See
protein sequence)Recommended Name: Mucolipin-2 Size: 566 amino acids; 65942 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAC04267.1; Type=Erroneous termination; Positions=64; Note=Translated as Trp;
Secondary accessions: A6NI99 Q2M3I6 Q5TAG5 Q8N9R3Alternative splicing: 2 isoforms: Q8IZK6-1 Q8IZK6-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MCOLN2: NX_Q8IZK6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IZK6
MCOLN2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_694991.2
ENSEMBL proteins: ENSP00000359640 ENSP00000436299 ENSP00000284027
Human Recombinant Protein Products for MCOLN2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
MCOLN2 for ontologies About GeneDecksing
MCOLN2 Antibody Products:
Assay Products for MCOLN2: |
Protein
Domains /
Families
for MCOLN2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MCOLN2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8IZK6ProtoNet protein and cluster: Q8IZK6 UniProtKB/Swiss-Prot: MCLN2_HUMAN, Q8IZK6Similarity: Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily |
Function
for MCOLN2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005216 | ion channel activity |
-- | -- |
MCOLN2 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN2 |
|
Pathways & Interactions
for MCOLN2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCOLN2
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006811 | ion transport |
IEA | -- |
MCOLN2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MCOLN2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MCOLN2
Search CenterWatch for drugs/clinical trials and news about MCOLN2 / MCLN2
|
Transcripts
for MCOLN2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MCOLN2 gene: NM_153259.2 Unigene Cluster for MCOLN2: Mucolipin 2 Hs.591446 [show with all ESTs]Unigene Representative Sequence: NM_1532596 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370608(uc001dkm.3 uc001dkn.3) ENST00000463065 ENST00000530971
ENST00000284027 ENST00000531325 ENST00000531874
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCOLN2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MCOLN2 (NM_153259) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCOLN2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN2 |
Additional cDNA sequence: AK094010.1 AK129786.1 AK309858.1 AY083533.1 BC104891.1 BC104893.1 4 DOTS entries: DT.100019001 DT.439511 DT.87015366 DT.121418605 24/27 AceView cDNA sequences (see all 27): BP354472 AY083533 BX115566 BG122048 BV206882 AI128274 AW377181 N41861 AI128279 AV713773 AI160827 AK094010 AI222682 AW119125 AX748410 AK129786 AA664369 AI915368 AI458257 AI914009 N41435 N30618 AA740983 BQ678209
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | - | | - | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MCOLN2
|
Expression
for MCOLN2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MCOLN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MCOLN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCOLN2
SOURCE GeneReport for Unigene cluster: Hs.591446
SABiosciences Custom PCR Arrays for MCOLN2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCOLN2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MCOLN2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCOLN2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN2 |
Orthologs
for MCOLN2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for MCOLN2 gene from 6/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MCOLN21 |
mucolipin 2 |
75.34(n)
76.01(a) |
|
424531 XM_422368.3 XP_422368.2 |
lizard
(Anolis carolinensis) |
Reptilia |
MCOLN26 |
-- |
76(a) |
1 ↔ 1 |
GL343194.1(10043229-10065854) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.17072 |
Xenopus laevis transcribed sequence with weak similarity more |
78.55(n) |
|
CF520914.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc553102 |
similar to mucolipin 2 |
75.44(n) |
|
394123 BC044140.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG426386trpml6 |
transient receptor potential mucolipin |
31(a)31(a) |
many ↔ manymany ↔ many |
3L(19738934-19742819) 3L(19707518-19711428) |
worm
(Caenorhabditis elegans) |
Secernentea |
cup-56 |
Coelomocyte UPtake defective family member (cup-5)... |
26(a) |
1 → many |
III(7584114-7591512) |
ENSEMBL Gene Tree for MCOLN2 (if available)
TreeFam Gene Tree for MCOLN2 (if available) |
Paralogs
for MCOLN2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MCOLN2 gene
- MCOLN32 MCOLN12
2 SIMAP similar genes for MCOLN2 using alignment to 2 protein entries: MCLN2_HUMAN (see all proteins):MCOLN3 MCOLN1
MCOLN2 for paralogs About GeneDecksing
|
Genomic Variants
for MCOLN2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MCOLN2 (85391266 - 85462796 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MCOLN2: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCOLN2 |
|
Disorders
/ Diseases
for MCOLN2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MCOLN2 for disorders About GeneDecksing
OMIM gene information: 607399
OMIM disorders: --
1  disease for MCOLN2: About MalaCardsmucolipidosis
1 disease from the University of Copenhagen DISEASES database for MCOLN2:Mucolipidosis Human Genome Epidemiology (HuGE) Navigator: MCOLN2 (1 document)
Export disorders for MCOLN2 gene to outside databases
|
Publications
for MCOLN2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MCOLN2 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with MCOLN2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. (PubMed id 12403827)1, 2 Di Palma F....Noben-Trauth K. (2002)
- Functional multimerization of mucolipin channel prote ins. (PubMed id 19885840)1, 9 Curcio-Morelli C....Slaugenhaupt S.A. (2010)
- Constitutive activity of TRPML2 and TRPML3 channels ve rsus activation by low extracellular sodium and small molecules. (PubMed id 22753890)1 Grimm C....Heller S. (2012)
- Heteromultimeric TRPML channel assemblies play a cruc ial role in the regulation of cell viability models and starvation-induced auto phagy. (PubMed id 20736310)1 Zeevi D.A....Bach G. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Constitutive activity of the human TRPML2 channel ind uces cell degeneration. (PubMed id 19940139)1 Lev S....Minke B. (2010)
- The tissue-specific expression of TRPML2 (MCOLN-2) ge ne is influenced by the presence of TRPML1. (PubMed id 19763610)1 Samie M.A....Cuajungco M.P. (2009)
- Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. (PubMed id 17662026)1 Karacsonyi C....Puertollano R. (2007)
|
External Searches for MCOLN2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MCOLN2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MCOLN2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MCOLN2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MCOLN2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MCOLN2 gene:
Search GeneIP for patents involving MCOLN2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MCOLN2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MCOLN2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCOLN2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCOLN2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCOLN2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCOLN2 |
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