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ALAS2 Gene

protein-coding   GIFtS: 65
GCID: GC0XM055035

Aminolevulinate, Delta-, Synthase 2

(Previous names: aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic...)
(Previous symbol: ASB)
  See ALAS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aminolevulinate, Delta-, Synthase 21 2     ANH12 5
ASB1 2 3 5     XLEPP2 5
Delta-ALA Synthase 22 3     XLSA2 5
Delta-Aminolevulinate Synthase 22 3     Aminolevulinate, Delta-, Synthase 2 (Sideroblastic/Hypochromic Anemia)1
5-Aminolevulinic Acid Synthase 22 3     Sideroblastic/Hypochromic Anemia1
ALAS-E2 3     5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial2
ALASE2 3     XLDPP2
EC 2.3.1.373 8     Delta-ALA Synthetase2

External Ids:    HGNC: 3971   Entrez Gene: 2122   Ensembl: ENSG000001585787   OMIM: 3013005   UniProtKB: P225573   

Export aliases for ALAS2 gene to outside databases

Previous GC identifers: GC0XM051887 GC0XM052973 GC0XM053640 GC0XM054002 GC0XM054918 GC0XM055053 GC0XM052086


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (aminolevulinate, delta-, synthase 2) is a protein-coding gene. Diseases associated with ALAS2 include x-linked sideroblastic anemia, and x-linked protoporphyria. 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALAS2 gene promoter:
         TBP   GCNF   IRF-1   GATA-1   FOXL1   IRF-2   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALAS2 promoter sequence
   Search Chromatin IP Primers for ALAS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALAS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.21

ALAS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALAS2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM055035:  view genomic region     (about GC identifiers)

Start:
55,035,488 bp from pter      End:
55,057,497 bp from pter
Size:
22,010 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557 (See protein sequence)
Recommended Name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial precursor  
Size: 587 amino acids; 64633 Da
Cofactor: Pyridoxal phosphate
Subunit: 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
Sequence caution: Sequence=CAA39795.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K3F0 A8K6C4 Q13735 Q5JZF5 Q8N6H3
Alternative splicing: 4 isoforms:  P22557-1   P22557-2   P22557-3   P22557-4   (Catalytic activity is 80% of isoform 1 activity)

Explore the universe of human proteins at neXtProt for ALAS2: NX_P22557

Explore proteomics data for ALAS2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALAS2 (P22557) (see all 20)
     VHSMDGA  IYVQAIN  PKIVAFE  HFELMSE 


    See ALAS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000023.2  NP_001033056.1  NP_001033057.1  

    ENSEMBL proteins: 
     ENSP00000379501   ENSP00000332369   ENSP00000337131   ENSP00000407204  
    Reactome Protein details: P22557

    ALAS2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR010961 4pyrrol_synth_NH2levulA_synth
     IPR015118 5aminolev_synth_preseq
     IPR001917 Aminotrans_II_pyridoxalP_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II

    Graphical View of Domain Structure for InterPro Entry P22557

    ProtoNet protein and cluster: P22557

    1 Blocks protein domain: IPB001917 Aminotransferase

    UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with ALAS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEM0_HUMAN, P22557
    Catalytic activity: Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)

         Genatlas biochemistry entry for ALAS2:
    aminolevulinate,delta-,synthase 2,erythroid,mitochondrial,pyridoxal dependent,catalyzing the first step of
    porphyrin biosynthesis,with a transcription factor binding site

         Enzyme Number (IUBMB): EC 2.3.1.371 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038705-aminolevulinate synthase activity IDA14643893
    GO:0005515protein binding IPI10727444
    GO:0016594glycine binding ISS--
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0050662coenzyme binding ISS--
         
    Find genes that share ontologies with ALAS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ALAS2:
     Increased 8N DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Alas2):
     embryogenesis  hematopoietic system  homeostasis/metabolism  integument  mortality/aging 

    Find genes that share phenotypes with ALAS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Alas2tm1Mym for ALAS2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALAS2
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    hsa-miR-1207-3p hsa-miR-330-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEM0_HUMAN, P22557: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular2
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA10727444
    GO:0005743mitochondrial inner membrane IDA14643893
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ALAS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALAS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    heme biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    Heme Biosynthesis0.00
    tetrapyrrole biosynthesis0.00
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism


    Find genes that share SuperPaths with ALAS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ALAS2
        Heme Biosynthesis
    tetrapyrrole biosynthesis
    heme biosynthesis


    1 Reactome Pathway for ALAS2
        Heme biosynthesis


    3 Kegg Pathways  (Kegg details for ALAS2):
        Glycine, serine and threonine metabolism
    Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine:
    step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALAS2
    Interactions:

        Search GeneGlobe Interaction Network for ALAS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALAS2 (P225573 ENSP000003323694) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUCLA2Q9P2R73, ENSP000003679234I2D: score=4 STRING: ENSP00000367923
    RABGGTBP536113, ENSP000003174734I2D: score=2 STRING: ENSP00000317473
    CDC73Q6P1J93, ENSP000003564054I2D: score=1 STRING: ENSP00000356405
    ERN1O754603, ENSP000004014454I2D: score=1 STRING: ENSP00000401445
    HSPD1P108093, ENSP000003400194I2D: score=1 STRING: ENSP00000340019
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA16234850
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0006879cellular iron ion homeostasis ISS--

    Find genes that share ontologies with ALAS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALAS2 (HEM0)

    Selected HMDB Compounds for ALAS2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Aminolevulinic acid5-amino-4-oxo-Pentanoate (see all 18)106-60-5--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    L-2-Amino-3-oxobutanoic acid(2S)-2-amino-3-oxobutanoate (see all 10)----
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    1 DrugBank Compound for ALAS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor16763894 16121195 15251194 12686158 14724775

    Selected Novoseek inferred chemical compound relationships for ALAS2 gene (see all 21)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aminolevulinic acid 89.9 54 8107717 (3), 2294742 (2), 8089650 (2), 12139757 (2) (see all 37)
    vitamin b6 69 9 8107717 (2), 9226183 (1), 7560104 (1), 10577279 (1) (see all 7)
    iron 68.4 56 15885606 (4), 11039663 (3), 12139757 (2), 18637800 (2) (see all 23)
    protoporphyrin ix 57.5 2 15831703 (1), 11843825 (1)
    iron-sulfur 57.5 2 19907149 (1)
    haem 52.2 3 9806542 (1), 12139757 (1), 18637800 (1)
    asparagine 44.3 9 11551215 (2), 7907328 (2), 12531813 (1), 12890666 (1) (see all 5)
    butyrate 28.4 3 16904069 (1), 18555711 (1)
    vanadate 23.5 1 9106619 (1)
    leucine 20.2 1 16234850 (1)



    Find genes that share compounds with ALAS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALAS2 gene (4 alternative transcripts): 
    NM_000032.4  NM_001037967.3  NM_001037968.3  NM_001037969.2  

    Unigene Cluster for ALAS2:

    Aminolevulinate, delta-, synthase 2
    Hs.522666  [show with all ESTs]
    Unigene Representative Sequence: NM_000032
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396198(uc004dub.4) ENST00000330807(uc004dua.4 uc004dud.4)
    ENST00000335854 ENST00000498636 ENST00000463868 ENST00000477869 ENST00000455688
    ENST00000493869
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    Additional mRNA sequence: 

    AK290565.1 AK291589.1 AK313118.1 BC030230.2 X56352.1 X60364.1 

    17 DOTS entries:

    DT.100869641  DT.100038775  DT.100038774  DT.448590  DT.100669048  DT.100812198  DT.121301008  DT.95159804 
    DT.202594  DT.100830674  DT.97791106  DT.121301071  DT.95159810  DT.100803629  DT.100806515  DT.95159813 
    DT.95377534 

    Selected AceView cDNA sequences (see all 272):

    BP374201 BQ182291 AL557775 X56352 BP372941 AL531776 CR591435 AL538892 
    AL535046 CR613185 BU617500 AL533802 BM720597 BP373530 AL557952 CR608649 
    AL557859 BX427583 BX399320 CR606333 CR615092 BU146675 CR593743 AL531498 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALAS2 (see all 10)    About this scheme

    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:                                -     -     -                                                                                       


    ECgene alternative splicing isoforms for ALAS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALAS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCCCCAGT
    ALAS2 Expression
    About this image


    ALAS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             S-shaped Body
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
    ALAS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALAS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522666

    UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
    Tissue specificity: Erythroid specific

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALAS2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alas21 , 5 aminolevulinic acid synthase 2, erythroid1, 5 87.45(n)1
    90.12(a)1
      X (68.46 cM)5
    116561  NM_009653.31  NP_033783.11 
     1505473755 
    lizard
    (Anolis carolinensis)
    Reptilia ALAS26
    aminolevulinate, delta-, synthase 2
    64(a)
    1 ↔ 1
    1(205724988-205760094)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alas21 aminolevulinate, delta-, synthase 2 69.59(n)
    69.88(a)
      448773  NM_001006925.1  NP_001006926.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alas22 aminolevulinate, delta-, synthetase 2 75.9(n)   64607  AF095747.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Alas1 , 3 5-aminolevulinate synthase3
    Aminolevulinate synthase1
    63(a)3
    59.5(n)1
    58.25(a)1
      60A143
    378151  NM_057933.41  NP_477281.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM1(YDR232W)4
    HEM11
    5-aminolevulinate synthase, catalyzes the first step more4
    HEM11
    52.09(n)1
    46.73(a)1
      4(927452-929098)4
    8518181, 4  NP_010518.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALAS2 gene
    GCAT2  ALAS12  
    2 SIMAP similar genes for ALAS2 using alignment to 4 protein entries:     HEM0_HUMAN (see all proteins):
    ALAS1    GCAT

    Find genes that share paralogs with ALAS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALAS2 (see all 367)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855049371,2,,4
    CAnemia, sideroblastic, X-linked (XLSA)4 --55064128(+) CATGAC/TGCTGC 6 H R mis10--------
    VAR_0662354
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0662352 E K mis40--------
    VAR_0662404
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0662402 R G mis40--------
    VAR_0662394
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0662392 R H mis40--------
    VAR_0662384
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0662382 R C mis40--------
    VAR_0123374
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0123372 R C mis40--------
    VAR_0123354
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0123352 R Q mis40--------
    VAR_0005644
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0005642 I N mis40--------
    VAR_0662434
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0662432 R H mis40--------
    VAR_0005624
    Anemia, sideroblastic, X-linked (XLSA)4--see VAR_0005622 T S mis40--------

    HapMap Linkage Disequilibrium report for ALAS2 (55035488 - 55057497 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALAS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297

    Human Gene Mutation Database (HGMD): ALAS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALAS2
    DNA2.0 Custom Variant and Variant Library Synthesis for ALAS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 301300   
    OMIM disorders: 300751  300752  
    UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
  • 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. 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. 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)

  • 16 diseases for ALAS2:    
    About MalaCards
    x-linked sideroblastic anemia    x-linked protoporphyria    sideroblastic anemia acquired    pyridoxine-responsive sideroblastic anemia
    hypochromic anemia    sideroblastic anemia    protoporphyria, erythropoietic, x-linked    x-linked cerebellar ataxia
    erythropoietic protoporphyria, autosomal recessive    erythropoietic protoporphyria    pearson syndrome    hemoglobinopathy
    microcytic anemia    congenital erythropoietic porphyria    refractory anemia    sickle cell disease

    4 diseases from the University of Copenhagen DISEASES database for ALAS2:
    Bone marrow disease     Erythropoietic protoporphyria     Anemia     Pearson syndrome

    Find genes that share disorders with ALAS2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ALAS2 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia sideroblastic 97.2 64 7912287 (3), 11877024 (3), 9226183 (2), 15498136 (2) (see all 42)
    anemia congenital sideroblastic 90.7 2 19907149 (1), 19731322 (1)
    sideroblastic anemia acquired 90 1 1577484 (1)
    microcytic anemia 79.5 1 9372069 (1)
    iron overload 76.2 16 15885606 (4), 18637800 (1), 18760763 (1), 19066423 (1) (see all 6)
    porphyria 70.6 1 20105171 (1)
    anemia macrocytic 54.5 1 9372069 (1)
    anemia 50 10 15885606 (3), 16838333 (2), 9226183 (1), 18760763 (1) (see all 5)
    anemia refractory 49.2 2 7560104 (2)
    erythroleukemia 47.3 1 9106619 (1)


    Export disorders for ALAS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALAS2 gene, integrated from 10 sources (see all 141):
    (articles sorted by number of sources associating them with ALAS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. (PubMed id 14643893)1, 2, 9 Cox T.C.... May B.K. (Int. J. Biochem. Cell Biol. 2004)
    2. Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene. (PubMed id 9642238)1, 2, 9 Surinya K.H.... May B.K. (J. Biol. Chem. 1998)
    3. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (PubMed id 10029606)1, 2, 9 Cotter P.D.... Bishop D.F. (Blood 1999)
    4. 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. (PubMed id 1577484)1, 3, 9 Cotter P.D....Bishop D.F. (Genomics 1992)
    5. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. (PubMed id 18760763)1, 2, 9 Whatley S.D.... Puy H. (Am. J. Hum. Genet. 2008)
    6. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (PubMed id 12393718)1, 2, 9 Cazzola M....Bishop D.F. (Blood 2002)
    7. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388- to-Ser substitution in erythroid 5-aminolevulinate synthase. (PubMed id 8107717)1, 2, 9 Cox T.C....May B.K. (N. Engl. J. Med. 1994)
    8. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. (PubMed id 9858242)1, 2, 9 Furuyama K.... Yamamoto M. (Br. J. Haematol. 1998)
    9. Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. (PubMed id 2050125)1, 2, 9 Cox T.C.... May B.K. (EMBO J. 1991)
    10. A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (PubMed id 10577279)1, 2, 9 Harigae H....Sasaki T. (Am. J. Hematol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 212 HGNC: 397 AceView: ALAS2 Ensembl:ENSG00000158578 euGenes: HUgn212
    ECgene: ALAS2 Kegg: 212 H-InvDB: ALAS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALAS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALAS2[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALAS2 gene:
    Search GeneIP for patents involving ALAS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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