ALAS2

GENERAL INFORMATION

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Gene name

ALAS2

Gene description

Aminolevulinate, delta-, synthase 2

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (bone marrow)
GTEx:Group enriched (lung, spleen)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in subsets of hematopoietic cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA001638
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (bone marrow)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (lung, spleen)

Organ

Expression



GENE INFORMATION

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Gene name

ALAS2 (HGNC Symbol)

Synonyms

ASB

Description

Aminolevulinate, delta-, synthase 2 (HGNC Symbol)

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]

Chromosome

X

Cytoband

p11.21

Chromosome location (bp)

55009055 - 55031064

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000158578 (version 78.38)

Entrez gene

212

UniProt

P22557 (UniProt - Evidence at protein level)

neXtProt

NX_P22557

Antibodypedia

ALAS2 antibodies


PROTEIN BROWSER

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ENST00000330807
 
ENST00000335854
 
ENST00000396198
 
ENST00000455688
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALAS2-004 ENSP00000407204
ENST00000455688
Show » Show » 222 24.8 No 0
ALAS2-006 ENSP00000332369
ENST00000330807
P22557
Show all »
Show » Show » 587 64.6 Yes 0
ALAS2-007 ENSP00000379501
ENST00000396198
P22557
Show all »
Show » Show » 574 63.5 Yes 0
ALAS2-008 ENSP00000337131
ENST00000335854
P22557
Show all »
Show » Show » 550 60.6 Yes 0