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ALAS2 (aminolevulinate, delta-, synthase 2)

Identity

Other namesALAS-E
ALASE
ANH1
ASB
XLDPP
XLEPP
XLSA
HGNC (Hugo) ALAS2
LocusID (NCBI) 212
Location Xp11.21
Location_base_pair Starts at 55035488 and ends at 55057497 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ALAS2   397
Cards
Entrez_Gene (NCBI)ALAS2  212  aminolevulinate, delta-, synthase 2
GeneCards (Weizmann)ALAS2
Ensembl (Hinxton)ENSG00000158578 [Gene_View]  chrX:55035488-55057497 [Contig_View]  ALAS2 [Vega]
ICGC DataPortalENSG00000158578
AceView (NCBI)ALAS2
Genatlas (Paris)ALAS2
WikiGenes212
SOURCE (Princeton)NM_000032 NM_001037967 NM_001037968 NM_001037969
Genomic and cartography
GoldenPath (UCSC)ALAS2  -  Xp11.21   chrX:55035488-55057497 -  Xp11.21   [Description]    (hg19-Feb_2009)
EnsemblALAS2 - Xp11.21 [CytoView]
Mapping of homologs : NCBIALAS2 [Mapview]
OMIM300751   300752   301300   
Gene and transcription
Genbank (Entrez)AA778169 AK290565 AK291589 AK313118 BC030230
RefSeq transcript (Entrez)NM_000032 NM_001037967 NM_001037968 NM_001037969
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008983 NT_011630 NW_001842370 NW_004929442
Consensus coding sequences : CCDS (NCBI)ALAS2
Cluster EST : UnigeneHs.555936 [ NCBI ]
CGAP (NCI)Hs.555936
Alternative Splicing : Fast-db (Paris)GSHG0032124
Alternative Splicing GalleryENSG00000158578
Gene ExpressionALAS2 [ NCBI-GEO ]     ALAS2 [ SEEK ]   ALAS2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22557 (Uniprot)
NextProtP22557  [Medical]
With graphics : InterProP22557
Splice isoforms : SwissVarP22557 (Swissvar)
Catalytic activity : Enzyme2.3.1.37 [ Enzyme-Expasy ]   2.3.1.372.3.1.37 [ IntEnz-EBI ]   2.3.1.37 [ BRENDA ]   2.3.1.37 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_2 (PS00599)   
Domains : Interpro (EBI)4pyrrol_synth_NH2levulA_synth    5aminolev_synth_preseq    Aminotrans_II_pyridoxalP_BS    Aminotransferase_I/II    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2   
Related proteins : CluSTrP22557
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)    Preseq_ALAS (PF09029)   
Domain families : Pfam (NCBI)pfam00155    pfam09029   
DMDM Disease mutations212
Blocks (Seattle)P22557
Human Protein AtlasENSG00000158578
Peptide AtlasP22557
HPRD02356
IPIIPI00304949   IPI00658179   IPI00915312   IPI00657985   
Protein Interaction databases
DIP (DOE-UCLA)P22557
IntAct (EBI)P22557
FunCoupENSG00000158578
BioGRIDALAS2
InParanoidP22557
Interologous Interaction database P22557
IntegromeDBALAS2
STRING (EMBL)ALAS2
Ontologies - Pathways
Ontology : AmiGOresponse to hypoxia  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  porphyrin-containing compound metabolic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  heme biosynthetic process  cellular iron ion homeostasis  glycine binding  pyridoxal phosphate binding  erythrocyte differentiation  erythrocyte differentiation  oxygen homeostasis  hemoglobin biosynthetic process  small molecule metabolic process  coenzyme binding  
Ontology : EGO-EBIresponse to hypoxia  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  porphyrin-containing compound metabolic process  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  heme biosynthetic process  cellular iron ion homeostasis  glycine binding  pyridoxal phosphate binding  erythrocyte differentiation  erythrocyte differentiation  oxygen homeostasis  hemoglobin biosynthetic process  small molecule metabolic process  coenzyme binding  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGGlycine, serine and threonine metabolism    Porphyrin and chlorophyll metabolism   
Protein Interaction DatabaseALAS2
Wikipedia pathwaysALAS2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ALAS2
SNP (GeneSNP Utah)ALAS2
SNP : HGBaseALAS2
Genetic variants : HAPMAPALAS2
1000_GenomesALAS2 
ICGC programENSG00000158578 
CONAN: Copy Number AnalysisALAS2 
Somatic Mutations in Cancer : COSMICALAS2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Mutations and Diseases : HGMDALAS2
OMIM300751    300752    301300   
MedgenALAS2
GENETestsALAS2
Disease Genetic AssociationALAS2
Huge Navigator ALAS2 [HugePedia]  ALAS2 [HugeCancerGEM]
Genomic VariantsALAS2  ALAS2 [DGVbeta]
Exome VariantALAS2
dbVarALAS2
ClinVarALAS2
snp3D : Map Gene to Disease212
General knowledge
Homologs : HomoloGeneALAS2
Homology/Alignments : Family Browser (UCSC)ALAS2
Phylogenetic Trees/Animal Genes : TreeFamALAS2
Chemical/Protein Interactions : CTD212
Chemical/Pharm GKB GenePA24689
Clinical trialALAS2
Cancer Resource (Charite)ENSG00000158578
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineALAS2
iHOPALAS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:31:35 CEST 2014

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