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Tbio
ALAS2
5-aminolevulinate synthase, erythroid-specific, mitochondrial

Protein Classes
Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000330807
  • ENSP00000332369
  • ENSG00000158578
  • ENST00000335854
  • ENSP00000337131
  • ENST00000396198
  • ENSP00000379501
  • ENST00000650242
  • ENSP00000497236

Symbol
  • ALASE
  • ASB
  • ASB
  • ANH1
  • XLSA
  • ALASE
  • XLDPP
  • XLEPP
  • ALAS-E
  • SIDBA1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.92
molecular function
0.81
cell type or tissue
0.75
cellular component
0.71
disease
0.7


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 200.39   (req: < 5)
Gene RIFs: 36   (req: <= 3)
Antibodies: 285   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 200.39   (req: >= 5)
Gene RIFs: 36   (req: > 3)
Antibodies: 285   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
1
1
43.8
mean corpuscular volume
1
1
1
0.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
43.8
mean corpuscular volume
1
0.9
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
5'-aminolevulinate synthase 2
704727
Mouse
MGI:87990
11656
Rat
RGD:2084
25748
Dog
5'-aminolevulinate synthase 2
VGNC:37777
491498
Horse
5'-aminolevulinate synthase 2
VGNC:15224
100060580
Species
Name
OMA
EggNOG
Inparanoid
Macaque
5'-aminolevulinate synthase 2
Mouse
Rat
Dog
5'-aminolevulinate synthase 2
Horse
5'-aminolevulinate synthase 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P22557-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (11)
Heme biosynthesis (R-HSA-189451)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Heme biosynthesis
Reactome
Metabolism
Reactome
Metabolism of porphyrins
Name
Explore in Pharos
Explore in Source
Heme biosynthesis
Metabolism
Metabolism of porphyrins
Gene Ontology Terms (14)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (119)
1 – 10 of 119
ALAD
Tbio
Family: Enzyme
Novelty: 0.00092757
Score: 0.979
Data Source: STRINGDB
AHSP
Tbio
Novelty: 0.00996928
Score: 0.92
Data Source: STRINGDB
SHMT2
Tbio
Family: Enzyme
Novelty: 0.00234505
Score: 0.918
Data Source: STRINGDB
EPB42
Tbio
Family: Enzyme
Novelty: 0.06393286
Score: 0.918
Data Source: STRINGDB
DAO
Tchem
Family: Enzyme
Novelty: 0.00414923
Score: 0.917
Data Source: STRINGDB
SHMT1
Tbio
Family: Enzyme
Novelty: 0.00200739
Score: 0.916
Data Source: STRINGDB
FECH
Tbio
Family: Enzyme
Novelty: 0.00282289
Score: 0.916
Data Source: STRINGDB
GATA1
Tbio
Family: TF
Novelty: 0.00077901
Score: 0.915
Data Source: STRINGDB
GLDC
Tbio
Family: Enzyme
Novelty: 0.00900467
Score: 0.915
Data Source: STRINGDB
AGXT2
Tbio
Family: Enzyme
Novelty: 0.02018289
Score: 0.913
Data Source: STRINGDB
Publication Statistics
PubMed Score  200.39

PubMed score by year
PubTator Score  145.24

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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