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GENE AND PROTEIN SUMMARY

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Gene name

ALAS2

Description

aminolevulinate, delta-, synthase 2

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

Medium

Entrez gene summary

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoskeleton (Intermediate filaments)

Additional location(s)

Nucleus but not nucleoli 

Staining summary

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

Reliability (Single)

Antibodies in assay

HPA001638
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Cytoplasmic positivity of moderate to strong intensity was observed in renal tubules, urothelia, salivary glands and squamous epithelia. Remaining normal tissues were negative.

Tissue specificity

Staining in 33 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA001638
 

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 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 42% of the cancers

Antibodies in assay

HPA001638
 

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

Not detected
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA001638

HPA001638

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

-

Weak
U-251 MG Brain Not detected
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA001638 pAb