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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]
ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is ALAS1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ055031 | Promoter | 0.6 | EPDnew | 600.7 | +0.1 | 93 | 0.1 | ZNF512 PRDM1 ZNF24 ATF4 VEZF1 MLLT1 | ALAS2 PAGE2B lnc-PFKFB1-2 | |
GH0XJ055030 | Promoter | 0.6 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | ZNF512 ZNF24 VEZF1 | ALAS2 lnc-PFKFB1-2 PAGE2B piR-50852-179 PAGE2 | |
GH0XJ055032 | Enhancer | 0.5 | Ensembl | 600.7 | +0.5 | 476 | 0.2 | ZNF512 PRDM1 ZNF24 ATF4 MLLT1 | ALAS2 lnc-PFKFB1-2 PAGE2B | |
GH0XJ055074 | Promoter | 0.6 | EPDnew | 13.3 | -44.0 | -44032 | 0.1 | NRF1 MGA L3MBTL2 | PAGE2B ALAS2 piR-57965-061 PAGE2 | |
GH0XJ055016 | Enhancer | 0.2 | FANTOM5 | 3.5 | +14.4 | 14402 | 0.2 | ALAS2 lnc-ALAS2-2 PAGE2B APEX2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003870 | 5-aminolevulinate synthase activity | IEA,IDA | 14643893 |
GO:0005515 | protein binding | IPI | 10727444 |
GO:0016594 | glycine binding | ISS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 10727444 |
GO:0005743 | mitochondrial inner membrane | IDA | 14643893 |
GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Porphyrin and chlorophyll metabolism | ||
2 | Metabolism |
.40
|
|
3 | Glycine, serine and threonine metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IDA | 16234850 |
GO:0006778 | porphyrin-containing compound metabolic process | IEA | -- |
GO:0006782 | protoporphyrinogen IX biosynthetic process | IEA | -- |
GO:0006783 | heme biosynthetic process | TAS | -- |
GO:0006879 | cellular iron ion homeostasis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Target, substrate | 196 | ||
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
Aminolevulinic acid | Approved | Pharma | 193 | |||
Iron | Approved, Experimental | Pharma | 1560 | |||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Formyl-CoA |
|
13131-49-2 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALAS2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ALAS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALAS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Alas2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Alas2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ALAS2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALAS2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ALAS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alas2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | alas2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Alas 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003184 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15059g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL104C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HEM1 30 31 33 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06189 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hem1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8623 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673081 | Benign: not provided | 55,013,171(-) | T/C | INTRON_VARIANT | |
674110 | Benign: not provided | 55,023,560(-) | T/C | INTRON_VARIANT | |
674111 | Likely Benign: not provided | 55,015,916(-) | C/T | INTRON_VARIANT | |
674644 | Benign: not provided | 55,021,308(-) | G/A | INTRON_VARIANT | |
681414 | Likely Benign: not provided | 55,017,645(-) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2740175 | CNV | deletion | 23290073 |
nsv435891 | CNV | deletion | 17901297 |
Disorder | Aliases | PubMed IDs |
---|---|---|
anemia, sideroblastic, 1 |
|
|
protoporphyria, erythropoietic, x-linked |
|
|
sideroblastic anemia |
|
|
pyridoxine-responsive sideroblastic anemia |
|
|
microcytic anemia |
|