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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALAS2 Gene

protein-coding   GIFtS: 66
GCID: GC0XM055053

aminolevulinate, delta-, synthase 2

(Previous names: aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic...)
(Previous symbol: ASB)
 Explore 37 diseases affiliated with
ALAS2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALAS2    

Aliases
for ALAS2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aminolevulinate, Delta-, Synthase 21 2     ANH12 5
ASB1 2 3 5     XLDPP2 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     5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial2
ALAS-E2 3     XLEPP2
ALASE2 3     Delta-ALA Synthetase2
EC 2.3.1.373 8     

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 GC0XM052086


Summaries
for ALAS2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ALAS2:
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)

Gene Wiki entry for ALAS2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011630.14  
Regulatory elements:
   SABiosciences 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 plasmid: ALAS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALAS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC0XM055053:  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

Proteins
for ALAS2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion matrix
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;
Secondary accessions: A8K3F0 A8K6C4 Q13735
Alternative splicing: 3 isoforms:  P22557-1   P22557-2   P22557-3   (Catalytic activity is 80% of isoform 1 activity)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22557

    • 4/20 DME Specific Peptides for ALAS2 (P22557) (see all 20)
     VHSMDGA  IYVQAIN  PKIVAFE  HFELMSE 

    ALAS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000332369   ENSP00000379501   ENSP00000337131   ENSP00000407204  
    Reactome Protein details: P22557
    Human Recombinant Protein Products: 
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    Uscn Proteins for ALAS2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    ALAS2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ALAS2

    Protein Domains /
    Families
    for ALAS2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALAS2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR010961 4pyrrol_synth_NH2levulA_synth
     IPR015118 5aminolev_synth_preseq
     IPR001917 Aminotrans_II_pyridoxalP_BS

    Graphical View of Domain Structure for InterPro Entry P22557

    ProtoNet protein and cluster: P22557

    1 Blocks protein family: IPB001917 Aminotransferase

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


    Function
    for ALAS2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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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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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038705-aminolevulinate synthase activity IDA14643893
    GO:0005515protein binding IPI14643893
    GO:0016594glycine binding ISS--
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0050662coenzyme binding ISS--


    ALAS2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Alas2tm1Mym for ALAS2
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Alas2):
     embryogenesis  hematopoietic system  homeostasis/metabolism  integument  mortality/aging 

    ALAS2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ALAS2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1heme biosynthesis II
    		heme biosynthesis II1.00
    		tetrapyrrole biosynthesis II0.57
    		Heme biosynthesis0.78
    		Metabolism of porphyrins0.50
    		Heme Biosynthesis0.78
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Glycine, serine and threonine metabolism
    		Glycine, serine and threonine metabolism1.00
    4Glucuronidation
    		Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for ALAS2 
        Heme Biosynthesis
    tetrapyrrole biosynthesis II
    heme biosynthesis II

    3        Reactome Pathways for ALAS2
        Metabolism of porphyrins
    Heme biosynthesis
    Metabolism


    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 metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1


    ALAS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALAS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/34 Interacting proteins for ALAS2 (P225573 ENSP000003323694) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUCLA2Q9P2R73, ENSP000003679234I2D: score=4 STRING: ENSP00000367923
    RABGGTBP536113, ENSP000003174734I2D: score=2 STRING: ENSP00000317473
    CDC73Q6P1J93, ENSP000003564054I2D: score=1 STRING: ENSP00000356405
    HSPD1P108093, ENSP000003400194I2D: score=1 STRING: ENSP00000340019
    CDK9P507503, ENSP000003623614I2D: score=1 STRING: ENSP00000362361
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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--


    ALAS2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALAS2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALAS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALAS2

    10/11 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

    10/21 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ALAS2 / HEM0 

    Transcripts
    for ALAS2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:
    ENST00000330807(uc004dua.4 uc004dud.4) ENST00000396198(uc004dub.4)
    ENST00000335854 ENST00000498636 ENST00000463868 ENST00000477869 ENST00000455688
    ENST00000493869

    miRNA
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    Clone
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    Additional cDNA 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 

    24/272 AceView cDNA sequences (see all 272):

    CR593743 BU617500 BP374777 BX462989 AU120290 BX406380 BU657082 BQ711689 
    AA342031 BI833454 BX360872 BX399320 AL535046 CR608649 BX427121 CR606670 
    BX377237 CR615092 X60364 CR591435 AI131251 AL557952 BC030230 AL531776 

    GeneLoc Exon Structure

    5/10 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

    Expression
    for ALAS2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALAS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCCCCAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ALAS2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    AdiposeThoracic Perivascular AdiposeAdipose
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ALAS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALAS2

    SOURCE GeneReport for Unigene cluster: Hs.522666

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

        SABiosciences Custom PCR Arrays for ALAS2
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    Orthologs
    for ALAS2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ALAS2 gene from 4/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia ALAS26
    		 --
    		 77(a)
    		 1 ↔ 1
    		 1(205724988-205734025)
    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
    59.48(n)1
    58.37(a)1    		   60A143
    378151  NM_057933.31  NP_477281.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes HEM1(YDR232W)4
    HEM11    		 5-aminolevulinate synthase, catalyzes the first step more4
    Hem1p1    		 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
    for ALAS2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALAS2 gene
    GCAT2  ALAS12  
    2 SIMAP similar genes for ALAS2 using alignment to 6 protein entries:     HEM0_HUMAN (see all proteins):
    ALAS1    GCAT

    ALAS2 for paralogs           About GeneDecksing



    Genomic Variants
    for ALAS2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/272 NCBI SNPs in ALAS2 are shown (see all 272)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289354841,2
    		Cpathogenic52098494(-) AAAGGA/TTGTGT 6 D V mis1 ese31Minor allele frequency- T:0.00NA 2
    rs1378523081,2
    		Cpathogenic57469050(-) AACAGA/G/TATCAC 9 N D Y mis10--------
    rs66122501,2
    		C,F,A,H,--52086501(+) AGGAGT/GAGGCC 3 -- ut31 ese320Minor allele frequency- G:0.12NS EA NA CSA 1674
    rs283826981,2
    		C,F,H,--52087005(+) GGCCCA/GAGAAT 3 -- int19Minor allele frequency- G:0.01EA NS NA 526
    rs66122521,2
    		H--52087490(+) cagagC/Gtatcc 3 -- int14Minor allele frequency- G:0.00NS EA 406
    rs1117440211,2
    		C,--52087514(+) TTCTCA/TCTTAC 3 -- int11Minor allele frequency- T:0.00CSA 1
    rs66122531,2
    		C,F,H,--52087698(+) tacatA/Ggaagt 3 -- int19Minor allele frequency- G:0.03NS EA NA 1088
    rs10224281,2
    		H--52088770(-) ATTACA/TGGGTG 3 -- int15Minor allele frequency- T:0.00MN NS EA 600
    rs10128571,2
    		C,H--52089143(-) ATTGTA/TGAGCT 3 -- int15Minor allele frequency- T:0.00MN NS EA 598
    rs170024061,2
    		C,F,H,--52089477(+) AATGAA/GTGAAT 3 -- int116Minor allele frequency- G:0.09NA NS EA CSA 1839

    HapMap Linkage Disequilibrium report for ALAS2 (55035488 - 55057497 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ALAS2
         1 CNV: 23256
    Human Gene Mutation Database (HGMD): ALAS2

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    Disorders / Diseases
    for ALAS2 gene

    (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.)
    About This Section
    ALAS2 for disorders           About GeneDecksing

    OMIM gene information: 301300   
    OMIM disorders: 300751  300752  
    UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
  • Defects in ALAS2 are a cause of anemia sideroblastic X-linked (XLSA) [MIM:300751]. 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. XLSA shows a variable hematologic response to
    pharmacologic doses of pyridoxine
  • Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT) [MIM:300752].
    • 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 a form of porphyria 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=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)

    20/37 diseases for ALAS2 (see all 37):    About MalaCards
    pyridoxine-responsive sideroblastic anemia    sideroblastic anemia    anemia    hypochromic anemia
    protoporphyria, erythropoietic, x-linked dominant    x-linked sideroblastic anemia    wieacker-wolff syndrome    erythropoietic protoporphyria
    x-linked sideroblastic anemia with ataxia    sideroblastic anemia acquired    congenital erythropoietic porphyria    iron overload
    microcytic anemia    mucopolysaccharidosis vi    sickle cell disease    spina bifida
    porphyria    mucopolysaccharidosis    spinocerebellar ataxia    cerebellar ataxia

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

    10/14 Novoseek 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

    Publications
    for ALAS2 gene

    (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)
    About This Section

    PubMed articles for ALAS2 gene, integrated from 9 sources (see all 135):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (1999)

    External Searches for ALAS2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing ALAS2 gene

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

    Other Databases showing ALAS2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALAS2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALAS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALAS2

    Intellectual Property
    for ALAS2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ALAS2 gene:
    Search GeneIP for patents involving ALAS2

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