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GENE AND PROTEIN SUMMARY

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Gene name

MCOLN2

Description

mucolipin 2

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters, Voltage-gated ion channels

Protein evidence

Only RNA

Entrez gene summary

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
2 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoskeleton (Intermediate filaments)

Additional location(s)

Cytoplasm 

Staining summary

Staining of cytoskeleton (intermediate filaments) in U-251 MG and U-2 OS. Staining of cytoplasm in A-431.

Reliability (Single)

Antibodies in assay

HPA019114
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most normal tissues displayed weak to moderate cytoplasmic positivity. Subtypes of cells in testis showed strong nuclear stained.

Tissue specificity

Staining in 64 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA019114
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 57% of the cancers

Antibodies in assay

HPA019114
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA019114

HPA019114

A-431 Skin Low
Strong
A-549 Lung Low
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Medium
HeLa Cervix Low
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder Low
U-2 OS Bone Low
Strong
U-251 MG Brain Low
Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA019114 pAb