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Aliases for ALAS2 Gene

Aliases for ALAS2 Gene

  • 5'-Aminolevulinate Synthase 2 2
  • Aminolevulinate, Delta-, Synthase 2 2 3
  • Delta-Aminolevulinate Synthase 2 3 4
  • 5-Aminolevulinic Acid Synthase 2 3 4
  • 5-Aminolevulinate Synthase 2 2 3
  • Delta-ALA Synthase 2 3 4
  • EC 2.3.1.37 4 63
  • ALAS-E 3 4
  • ALASE 3 4
  • ASB 3 4
  • Aminolevulinate, Delta-, Synthase 2 (Sideroblastic/Hypochromic Anemia) 2
  • Sideroblastic/Hypochromic Anemia 2
  • Delta-ALA Synthetase 3
  • XLDPP 3
  • XLEPP 3
  • ANH1 3
  • XLSA 3

External Ids for ALAS2 Gene

Previous HGNC Symbols for ALAS2 Gene

  • ASB

Previous GeneCards Identifiers for ALAS2 Gene

  • GC0XM051887
  • GC0XM052973
  • GC0XM053640
  • GC0XM054002
  • GC0XM054918
  • GC0XM055053
  • GC0XM052086

Summaries for ALAS2 Gene

Entrez Gene Summary for ALAS2 Gene

  • 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]

GeneCards Summary for ALAS2 Gene

ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include anemia, sideroblastic, x-linked and protoporphyria, erythropoietic, x-linked. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is GCAT.

Gene Wiki entry for ALAS2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALAS2 Gene

Genomics for ALAS2 Gene

Regulatory Elements for ALAS2 Gene

Genomic Location for ALAS2 Gene

Chromosome:
X
Start:
55,009,055 bp from pter
End:
55,031,064 bp from pter
Size:
22,010 bases
Orientation:
Minus strand

Genomic View for ALAS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALAS2 Gene

Proteins for ALAS2 Gene

  • Protein details for ALAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22557-HEM0_HUMAN
    Recommended name:
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
    Protein Accession:
    P22557
    Secondary Accessions:
    • A8K3F0
    • A8K6C4
    • Q13735
    • Q5JZF5
    • Q8N6H3

    Protein attributes for ALAS2 Gene

    Size:
    587 amino acids
    Molecular mass:
    64633 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Interacts with SUCLA2.
    Miscellaneous:
    • There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues
    SequenceCaution:
    • Sequence=CAA39795.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALAS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALAS2 Gene

Proteomics data for ALAS2 Gene at MOPED

Post-translational modifications for ALAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALAS2 Gene

Antibody Products

Domains & Families for ALAS2 Gene

Graphical View of Domain Structure for InterPro Entry

P22557

UniProtKB/Swiss-Prot:

HEM0_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ALAS2: view

No data available for Gene Families for ALAS2 Gene

Function for ALAS2 Gene

Molecular function for ALAS2 Gene

GENATLAS Biochemistry:
aminolevulinate,delta-,synthase 2,erythroid,mitochondrial,pyridoxal dependent,catalyzing the first step of porphyrin biosynthesis,with a transcription factor binding site
UniProtKB/Swiss-Prot CatalyticActivity:
Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2).

Enzyme Numbers (IUBMB) for ALAS2 Gene

Gene Ontology (GO) - Molecular Function for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003870 5-aminolevulinate synthase activity IDA 14643893
GO:0005515 protein binding IPI 10727444
GO:0016594 glycine binding ISS --
GO:0016740 transferase activity --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with ALAS2: view
genes like me logo Genes that share phenotypes with ALAS2: view

Animal Models for ALAS2 Gene

MGI Knock Outs for ALAS2:

Animal Model Products

miRNA for ALAS2 Gene

miRTarBase miRNAs that target ALAS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALAS2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ALAS2 Gene

Localization for ALAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALAS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALAS2 Gene COMPARTMENTS Subcellular localization image for ALAS2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 10727444
GO:0005743 mitochondrial inner membrane IDA 14643893
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ALAS2: view

Pathways & Interactions for ALAS2 Gene

genes like me logo Genes that share pathways with ALAS2: view

Pathways by source for ALAS2 Gene

UniProtKB/Swiss-Prot P22557-HEM0_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1

Gene Ontology (GO) - Biological Process for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 16234850
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0006879 cellular iron ion homeostasis ISS --
genes like me logo Genes that share ontologies with ALAS2: view

No data available for SIGNOR curated interactions for ALAS2 Gene

Drugs & Compounds for ALAS2 Gene

(18) Drugs for ALAS2 Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Agonist, Target Endogenous potentiator, co-transmitter 102
Aminolevulinic acid Approved Pharma 128
Iron Approved Pharma 957
Zinc Approved Pharma 1404
Pyridoxine Approved Nutra 152,152

(11) Additional Compounds for ALAS2 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
aspartate
butyrate
genes like me logo Genes that share compounds with ALAS2: view

Transcripts for ALAS2 Gene

Unigene Clusters for ALAS2 Gene

Aminolevulinate, delta-, synthase 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALAS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALAS2 Gene

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: - - - - -

Relevant External Links for ALAS2 Gene

GeneLoc Exon Structure for
ALAS2
ECgene alternative splicing isoforms for
ALAS2

Expression for ALAS2 Gene

mRNA expression in normal human tissues for ALAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALAS2 Gene

This gene is overexpressed in Whole Blood (x51.5).

Protein differential expression in normal tissues from HIPED for ALAS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.1) and Fetal Liver (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALAS2 Gene



SOURCE GeneReport for Unigene cluster for ALAS2 Gene Hs.522666

mRNA Expression by UniProt/SwissProt for ALAS2 Gene

P22557-HEM0_HUMAN
Tissue specificity: Erythroid specific
genes like me logo Genes that share expression patterns with ALAS2: view

Protein tissue co-expression partners for ALAS2 Gene

Primer Products

In Situ Assay Products

Orthologs for ALAS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALAS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALAS2 35
  • 91.03 (n)
  • 92.67 (a)
ALAS2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALAS2 35
  • 91.02 (n)
  • 92.98 (a)
ALAS2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alas2 35
  • 87.45 (n)
  • 90.12 (a)
Alas2 16
Alas2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALAS2 35
  • 92.12 (n)
  • 90.36 (a)
rat
(Rattus norvegicus)
Mammalia Alas2 35
  • 86.37 (n)
  • 88.76 (a)
oppossum
(Monodelphis domestica)
Mammalia ALAS2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALAS2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALAS2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alas2 35
  • 69.59 (n)
  • 69.88 (a)
zebrafish
(Danio rerio)
Actinopterygii alas2 35
  • 64.54 (n)
  • 68.32 (a)
alas2 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Alas 37
  • 63 (a)
Alas 35
  • 59.5 (n)
  • 58.25 (a)
Alas 36
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003184 35
  • 57.86 (n)
  • 55.51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL104C 35
  • 52.97 (n)
  • 47.62 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15059g 35
  • 53.6 (n)
  • 48.24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM1 35
  • 52.09 (n)
  • 46.73 (a)
HEM1 36
  • 36 (a)
OneToMany
HEM1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU06189 35
  • 59.6 (n)
  • 54.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem1 35
  • 53.03 (n)
  • 50.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8623 36
  • 52 (a)
OneToMany
Species with no ortholog for ALAS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALAS2 Gene

ENSEMBL:
Gene Tree for ALAS2 (if available)
TreeFam:
Gene Tree for ALAS2 (if available)

Paralogs for ALAS2 Gene

Paralogs for ALAS2 Gene

(2) SIMAP similar genes for ALAS2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALAS2: view

Variants for ALAS2 Gene

Sequence variations from dbSNP and Humsavar for ALAS2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs752102551 -- 55,018,636(+) TGAAA(A/T)AGTGA intron-variant
rs751946135 -- 55,015,763(+) GGATA(C/G/T)AGGTA intron-variant
rs751886702 -- 55,009,349(+) CTGAA(-/G)GTGGT intron-variant
rs751844260 -- 55,015,559(+) AGAAG(G/T)CCCAA intron-variant
rs751820122 -- 55,010,089(+) TCCAG(C/T)TGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALAS2 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073

Variation tolerance for ALAS2 Gene

Residual Variation Intolerance Score: 70.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALAS2 Gene

HapMap Linkage Disequilibrium report
ALAS2
Human Gene Mutation Database (HGMD)
ALAS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALAS2 Gene

Disorders for ALAS2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ALAS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
anemia, sideroblastic, x-linked
  • x-linked sideroblastic anemia
protoporphyria, erythropoietic, x-linked
  • erythropoietic protoporphyria, x-linked dominant
x-linked protoporphyria
  • protoporphyria, erythropoietic, x-linked
protoporphyria, erythropoietic, autosomal recessive
  • erythropoietic protoporphyria
pyridoxine-responsive sideroblastic anemia
  • x chromosome-linked pyridoxine responsive sideroblastic anemia
- elite association
Search ALAS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM0_HUMAN
  • Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. {ECO:0000269 PubMed:10029606, ECO:0000269 PubMed:10577279, ECO:0000269 PubMed:12031592, ECO:0000269 PubMed:12393718, ECO:0000269 PubMed:1570328, ECO:0000269 PubMed:19731322, ECO:0000269 PubMed:21252495, ECO:0000269 PubMed:21309041, ECO:0000269 PubMed:8107717, ECO:0000269 PubMed:9858242}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Erythropoietic protoporphyria, X-linked dominant (XLDPT) [MIM:300752]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. {ECO:0000269 PubMed:18760763}. Note=The disease is caused by mutations affecting the gene represented in this entry. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). {ECO:0000269 PubMed:21309041}.

Relevant External Links for ALAS2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALAS2
genes like me logo Genes that share disorders with ALAS2: view

No data available for Genatlas for ALAS2 Gene

Publications for ALAS2 Gene

  1. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. (PMID: 1577484) Cotter P.D. … Bishop D.F. (Genomics 1992) 2 23 67
  2. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann A.K. … Neufeld E.J. (Pediatr Blood Cancer 2010) 23 67
  3. Erythroid 5-aminolevulinate synthase mediates the upregulation of membrane band 3 protein expression by iron. (PMID: 20087844) Huang Q. … Gao L. (Cell Biochem. Funct. 2010) 23 67
  4. Molecular epidemiology of erythropoietic protoporphyria in the U.K. (PMID: 20105171) Whatley S.D. … Badminton M.N. (Br. J. Dermatol. 2010) 23 67
  5. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. (PMID: 20364084) Ye H. … Rouault T.A. (J. Clin. Invest. 2010) 23 67

Products for ALAS2 Gene

Sources for ALAS2 Gene

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