Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ALAS2 (5'-aminolevulinate synthase 2)

Identity

Alias_namesASB
aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
aminolevulinate, delta-, synthase 2
HGNC (Hugo) ALAS2
LocusID (NCBI) 212
Atlas_Id 50876
Location Xp11.21  [Link to chromosome band Xp11]
Location_base_pair Starts at 55035488 and ends at 55057497 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALAS2 (Xp11.21) / ALB (4q13.3)CYB5B (16q22.1) / ALAS2 (Xp11.21)PAGE2B (Xp11.21) / ALAS2 (Xp11.21)

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  5'-aminolevulinate synthase 2
AliasesALAS-E; ALASE; ANH1; ASB; 
SIDBA1; XLDPP; XLEPP; XLSA
GeneCards (Weizmann)ALAS2
Ensembl hg19 (Hinxton)ENSG00000158578 [Gene_View]  chrX:55035488-55057497 [Contig_View]  ALAS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158578 [Gene_View]  chrX:55035488-55057497 [Contig_View]  ALAS2 [Vega]
ICGC DataPortalENSG00000158578
TCGA cBioPortalALAS2
AceView (NCBI)ALAS2
Genatlas (Paris)ALAS2
WikiGenes212
SOURCE (Princeton)ALAS2
Genetics Home Reference (NIH)ALAS2
Genomic and cartography
GoldenPath hg19 (UCSC)ALAS2  -     chrX:55035488-55057497 -  Xp11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALAS2  -     Xp11.21   [Description]    (hg38-Dec_2013)
EnsemblALAS2 - Xp11.21 [CytoView hg19]  ALAS2 - Xp11.21 [CytoView hg38]
Mapping of homologs : NCBIALAS2 [Mapview hg19]  ALAS2 [Mapview hg38]
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)NC_000023 NC_018934 NG_008983 NT_011630 NW_004929442
Consensus coding sequences : CCDS (NCBI)ALAS2
Cluster EST : UnigeneHs.555936 [ NCBI ]
CGAP (NCI)Hs.555936
Alternative Splicing GalleryENSG00000158578
Gene ExpressionALAS2 [ NCBI-GEO ]   ALAS2 [ EBI - ARRAY_EXPRESS ]   ALAS2 [ SEEK ]   ALAS2 [ MEM ]
Gene Expression Viewer (FireBrowse)ALAS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)212
GTEX Portal (Tissue expression)ALAS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22557   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22557  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22557
Splice isoforms : SwissVarP22557
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 ]   
PhosPhoSitePlusP22557
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   
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)    Preseq_ALAS (PF09029)   
Domain families : Pfam (NCBI)pfam00155    pfam09029   
Conserved Domain (NCBI)ALAS2
DMDM Disease mutations212
Blocks (Seattle)ALAS2
SuperfamilyP22557
Human Protein AtlasENSG00000158578
Peptide AtlasP22557
HPRD02356
IPIIPI00304949   IPI00658179   IPI00915312   IPI00657985   
Protein Interaction databases
DIP (DOE-UCLA)P22557
IntAct (EBI)P22557
FunCoupENSG00000158578
BioGRIDALAS2
STRING (EMBL)ALAS2
ZODIACALAS2
Ontologies - Pathways
QuickGOP22557
Ontology : AmiGOresponse to hypoxia  5-aminolevulinate synthase activity  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  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  coenzyme binding  
Ontology : EGO-EBIresponse to hypoxia  5-aminolevulinate synthase activity  5-aminolevulinate synthase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  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  coenzyme binding  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGGlycine, serine and threonine metabolism    Porphyrin and chlorophyll metabolism   
NDEx NetworkALAS2
Atlas of Cancer Signalling NetworkALAS2
Wikipedia pathwaysALAS2
Orthology - Evolution
OrthoDB212
GeneTree (enSembl)ENSG00000158578
Phylogenetic Trees/Animal Genes : TreeFamALAS2
HOVERGENP22557
HOGENOMP22557
Homologs : HomoloGeneALAS2
Homology/Alignments : Family Browser (UCSC)ALAS2
Gene fusions - Rearrangements
Fusion : MitelmanPAGE2B/ALAS2 [Xp11.21/Xp11.21]  [t(X;X)(p11;p11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALAS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALAS2
dbVarALAS2
ClinVarALAS2
1000_GenomesALAS2 
Exome Variant ServerALAS2
ExAC (Exome Aggregation Consortium)ALAS2 (select the gene name)
Genetic variants : HAPMAP212
Genomic Variants (DGV)ALAS2 [DGVbeta]
DECIPHER (Syndromes)X:55035488-55057497  ENSG00000158578
CONAN: Copy Number AnalysisALAS2 
Mutations
ICGC Data PortalALAS2 
TCGA Data PortalALAS2 
Broad Tumor PortalALAS2
OASIS PortalALAS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALAS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALAS2
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
BioMutasearch ALAS2
DgiDB (Drug Gene Interaction Database)ALAS2
DoCM (Curated mutations)ALAS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALAS2 (select a term)
intoGenALAS2
Cancer3DALAS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300751    300752    301300   
Orphanet23451    11087   
MedgenALAS2
Genetic Testing Registry ALAS2
NextProtP22557 [Medical]
TSGene212
GENETestsALAS2
Huge Navigator ALAS2 [HugePedia]
snp3D : Map Gene to Disease212
BioCentury BCIQALAS2
ClinGenALAS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD212
Chemical/Pharm GKB GenePA24689
Clinical trialALAS2
Miscellaneous
canSAR (ICR)ALAS2 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALAS2
EVEXALAS2
GoPubMedALAS2
iHOPALAS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:30:38 CET 2016

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