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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 g... See more...
Aliases for MCOLN2 Gene
Aliases for MCOLN2 Gene
External Ids for MCOLN2 Gene
- HGNC: 13357
- Entrez Gene: 255231
- Ensembl: ENSG00000153898
- OMIM: 607399
- UniProtKB: Q8IZK6
Previous GeneCards Identifiers for MCOLN2 Gene
- GC01M084529
- GC01M084679
- GC01M084814
- GC01M084813
- GC01M085103
- GC01M085391
- GC01M083501
Summaries for MCOLN2 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]
GeneCards Summary for MCOLN2 Gene
MCOLN2 (Mucolipin 2) is a Protein Coding gene. Diseases associated with MCOLN2 include Mucolipidosis and Mucolipidosis Iv. Among its related pathways are Calcium signaling pathway and TRP channels. An important paralog of this gene is MCOLN3.
UniProtKB/Swiss-Prot Summary for MCOLN2 Gene
-
Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-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).
Additional gene information for MCOLN2 Gene
- HGNC(13357)
- Entrez Gene(255231)
- Ensembl(ENSG00000153898)
- OMIM(607399)
- UniProtKB(Q8IZK6)
- Open Targets Platform(ENSG00000153898)
- Search for MCOLN2 at DataMed
- Search for MCOLN2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCOLN2 Gene
Genomics for MCOLN2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MCOLN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MCOLN2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCOLN2
- Top Transcription factor binding sites by QIAGEN in the MCOLN2 gene promoter:
-
- AREB6
- c-Myc
- Max
- N-Myc
- Sp1
Genomic Locations for MCOLN2 Gene
Genomic Locations for MCOLN2 Gene
- chr1:84,925,583-84,997,113
- (GRCh38/hg38)
- Size:
- 71,531 bases
- Orientation:
- Minus strand
- chr1:85,391,266-85,462,796
- (GRCh37/hg19)
- Size:
- 71,531 bases
- Orientation:
- Minus strand
Genomic View for MCOLN2 Gene
Genes around MCOLN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p22.3 by HGNC
- 1p22.3 by Entrez Gene
- 1p22.3 by Ensembl
MCOLN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MCOLN2 Gene
Proteins for MCOLN2 Gene
-
Protein details for MCOLN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IZK6-MCLN2_HUMAN
- Recommended name:
- Mucolipin-2
- Protein Accession:
- Q8IZK6
- A6NI99
- Q2M3I6
- Q5TAG5
- Q8N9R3
Protein attributes for MCOLN2 Gene
- Size:
- 566 amino acids
- Molecular mass:
- 65942 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=BAC04267.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
Protein Expression for MCOLN2 Gene
Post-translational modifications for MCOLN2 Gene
Other Protein References for MCOLN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MCOLN2
- Novus Biologicals Antibodies for MCOLN2
- Invitrogen Antibodies for MCOLN2 (AFLGC-MCOLN2)
- antibodies-online: Show 6 available MCOLN2 Antibodies ranked by validation data
- Compare Top MCOLN2 Antibodies
-
Quality Products:
-
Santa Cruz Biotechnology (SCBT) Antibodies for MCOLN2
Protein Products
-
OriGene Purified Proteins for MCOLN2
- Search Origene for MassSpec and Protein Over-expression Lysates for MCOLN2
- Origene Custom Protein Services for MCOLN2
No data available for DME Specific Peptides for MCOLN2 Gene
Domains & Families for MCOLN2 Gene
Gene Families for MCOLN2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
- Voltage-gated ion channels
Protein Domains for MCOLN2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MCOLN2 Gene
- GenScript: Design optimal peptide antigens:
-
- Mucolipin-2 (MCLN2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8IZK6UniProtKB/Swiss-Prot:
MCLN2_HUMAN :- 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 Ca(2+) 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.
- Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.
- Domain:
-
- 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 Ca(2+) 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.
- Family:
-
- Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.
Function for MCOLN2 Gene
Molecular function for MCOLN2 Gene
- UniProtKB/Swiss-Prot Function:
- Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-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).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Channel activity is reduced by low extracellular/lumenal pH level (PubMed:19940139).
Phenotypes From GWAS Catalog for MCOLN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005261 | cation channel activity | IEA | -- |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
| GO:0072345 | NAADP-sensitive calcium-release channel activity | IBA | 21873635 |
Phenotypes for MCOLN2 Gene
- MGI mutant phenotypes for MCOLN2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MCOLN2:
Animal Models for MCOLN2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for MCOLN2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MCOLN2 - Select products 50% OFF >
- * MCOLN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MCOLN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MCOLN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCOLN2
miRNA for MCOLN2 Gene
- miRTarBase miRNAs that target MCOLN2
-
- hsa-miR-32-5p (MIRT028342)
- hsa-miR-92a-3p (MIRT049683)
- hsa-miR-4325 (MIRT473442)
- hsa-miR-7703 (MIRT473444)
- hsa-miR-601 (MIRT473445)
- hsa-miR-4641 (MIRT473446)
- hsa-miR-3129-5p (MIRT473447)
- hsa-miR-199b-3p (MIRT473448)
- hsa-miR-199a-3p (MIRT473449)
- hsa-miR-25-3p (MIRT473450)
- hsa-miR-367-3p (MIRT473451)
- hsa-miR-92b-3p (MIRT473452)
- hsa-miR-363-3p (MIRT473453)
- hsa-miR-365a-3p (MIRT473454)
- hsa-miR-365b-3p (MIRT473455)
- hsa-miR-26a-2-3p (MIRT511161)
- hsa-miR-26a-1-3p (MIRT511162)
- hsa-miR-6731-3p (MIRT511163)
- hsa-miR-1273f (MIRT783309)
- hsa-miR-1289 (MIRT783403)
- hsa-miR-129-5p (MIRT783533)
- hsa-miR-1304-3p (MIRT783684)
- hsa-miR-143-3p (MIRT783808)
- hsa-miR-3198 (MIRT784818)
- hsa-miR-4294 (MIRT785624)
- hsa-miR-4309 (MIRT785691)
- hsa-miR-4534 (MIRT786212)
- hsa-miR-4708-5p (MIRT786479)
- hsa-miR-4770 (MIRT786693)
- hsa-miR-6088 (MIRT788035)
- hsa-miR-6514-5p (MIRT788350)
- hsa-miR-8055 (MIRT789698)
- hsa-miR-8082 (MIRT789838)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MCOLN2
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Clone Products
- Applied Biological Materials (abm): Clones for MCOLN2 - Select products 50% OFF >
- * MCOLN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MCOLN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MCOLN2
Cell Line Products
-
Horizon Cell Lines for MCOLN2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCOLN2 Gene
Localization for MCOLN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MCOLN2 Gene
- Cell membrane. Multi-pass membrane protein. Late endosome membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Recycling endosome membrane. Multi-pass membrane protein. Note=Localizes to recycling endosomes in activated macrophages and microglia. {ECO:0000250 UniProtKB:Q8K595}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 4 |
| lysosome | 4 |
| cytoskeleton | 3 |
| cytosol | 3 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Intermediate filaments (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | NOT lysosomal membrane | IBA | 21873635 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for MCOLN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ion channel transport | ||
| 2 | Calcium signaling pathway | ||
| 3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
| 4 | TRP channels | ||
Pathways by source for MCOLN2 Gene
4 Reactome pathways for MCOLN2 Gene
1 KEGG pathway for MCOLN2 Gene
Interacting Proteins for MCOLN2 Gene
GPS-Prot Interaction Network for MCOLN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
No data available for SIGNOR curated interactions for MCOLN2 Gene
Drugs & Compounds for MCOLN2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| ML SA1 | Pharma | Activator of TRPML channels | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| MK6-83 |
|
1062271-24-2 |
|
|
||
| SN 2 |
|
823218-99-1 |
|
|
(3) Tocris Compounds for MCOLN2 Gene
Transcripts for MCOLN2 Gene
mRNA/cDNA for MCOLN2 Gene
- 2 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000284027 1729 nts (view in UCSC)
- ENST00000370608 3044 nts (view in UCSC)
- ENST00000463065 2403 nts (view in UCSC)
- ENST00000530971 583 nts (view in UCSC)
- ENST00000531325 1710 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MCOLN2 - Select products 50% OFF >
- * MCOLN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MCOLN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MCOLN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCOLN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MCOLN2
- Browse OriGene Inhibitory RNA Products For MCOLN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCOLN2
Clone Products
- Applied Biological Materials (abm): Clones for MCOLN2 - Select products 50% OFF >
- * MCOLN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MCOLN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MCOLN2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP3: |
Relevant External Links for MCOLN2 Gene
- GeneLoc Exon Structure for
- MCOLN2
Expression for MCOLN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
- Zeugopod Growth Plate
-
Cartilage (Muscoskeletal System)
- Chondrocytes Zeugopod Epiphyseal End
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
mRNA differential expression in normal tissues according to GTEx for MCOLN2 Gene
This gene is overexpressed in Colon - Transverse (x4.5).
This gene is overexpressed in Ovary (21.0), Testis (13.2), Skin (11.6), and Spleen (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MCOLN2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCOLN2
SOURCE GeneReport for Unigene cluster for MCOLN2 Gene:
Hs.591446Primer Products
-
OriGene qPCR primer pairs for MCOLN2
-
OriGene qPCR primer pairs and template standards for MCOLN2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCOLN2 Gene
Orthologs for MCOLN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MCOLN2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MCOLN2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | MCOLN2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MCOLN2 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mcoln2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Mcoln2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MCOLN2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MCOLN2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MCOLN2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mcoln2 30 |
|
||
| Str.20445 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1707 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mcoln2 30 |
|
||
| MCOLN2 31 |
|
OneToOne | |||
| zgc55310 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG42638 31 |
|
ManyToMany | |
| trpml 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | cup-5 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for MCOLN2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for MCOLN2 Gene
- ENSEMBL:
- Gene Tree for MCOLN2 (if available)
- TreeFam:
- Gene Tree for MCOLN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MCOLN2: view image
Paralogs for MCOLN2 Gene
Variants for MCOLN2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCOLN2 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711275 | Benign: not provided | 84,937,887(-) | A/T | INTRON_VARIANT | |
| 722691 | Benign: not provided | 84,996,828(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 775563 | Benign: not provided | 84,939,555(-) | T/G | MISSENSE_VARIANT | |
| 777913 | Benign: not provided | 84,939,543(-) | C/T | INTRON_VARIANT | |
| 786464 | Benign: not provided | 84,996,815(-) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Residual Variation Intolerance Score:
53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.51;
71.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MCOLN2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MCOLN2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCOLN2 Gene
Disorders for MCOLN2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mucolipidosis |
|
|
| mucolipidosis iv |
|
|
Search MCOLN2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MCOLN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for MCOLN2 Gene
Publications for MCOLN2 Gene
- Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C … Slaugenhaupt SA (Journal of cellular physiology 2010) 3 4 23
- Constitutive activity of the human TRPML2 channel induces cell degeneration. (PMID: 19940139) Lev S … Minke B (The Journal of biological chemistry 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. (PMID: 17662026) Karacsonyi C … Puertollano R (Traffic (Copenhagen, Denmark) 2007) 3 4
- International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham DE … Schultz G (Pharmacological reviews 2005) 2 3
ExternalLinks
Products for MCOLN2 Gene
- Custom Antibody ServicesOriGene Antibodies for MCOLN2
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- Custom Assay Services
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for MCOLN2
- Browse OriGene Inhibitory RNA Products For MCOLN2
- OriGene qPCR primer pairs for MCOLN2
- OriGene qPCR primer pairs and template standards for MCOLN2
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- Browse OriGene miRNA Products For MCOLN2
- Sino Biological Human cDNA Clone for MCOLN2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MCOLN2
- Novus Biologicals proteins and lysates for MCOLN2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Taconic Biosciences Mouse Models for MCOLN2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MCOLN2 (AFLGC-MCOLN2)
- VectorBuilder Custom and pre-made DNA vectors for MCOLN2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MCOLN2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MCOLN2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MCOLN2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MCOLN2
- antibodies-online: Show 6 available MCOLN2 Antibodies ranked by validation data
- Compare Top MCOLN2 Antibodies
- Quality Products:
- antibodies-online: Search results for available MCOLN2 related products ranked by validation data
- antibodies-online: Search results for available MCOLN2 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for MCOLN2
- Search Santa Cruz Biotechnology (SCBT) for MCOLN2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MCOLN2
- Horizon Cell Lines for MCOLN2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MCOLN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MCOLN2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MCOLN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCOLN2
Sources for MCOLN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB