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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. ALAS2, aminolevulinate, delta-, synthase 2
Sequence ID:NM_000032
NM_001037967
NM_001037968
NM_001037969
RefSeqGene ID:NG_008983
Entrez Gene ID:212
Ensembl ID:ENSG00000158578

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ANEMIA, SIDEROBLASTIC, X-LINKED 
PROTOPORPHYRIA,ERYTHROPOIETIC, X-LINKED 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xp11.21Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:Unknown

 Exon Info From UCSC:
NM_000032
NM_001037967
NM_001037968

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5226194Full LengthBC030230aminolevulinate, delta-, synthase 2

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000032 NP_000023 P22557 EC 2.3.1.37 Aminotran_1_2
NM_001037967 NP_001033056 Q5JZF5    
NM_001037968 NP_001033057      

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
BC030230 AAH30230 Q8N6H3  
AK290565 BAF83254 P22557 EC 2.3.1.37
AK291589 BAF84278 P22557 EC 2.3.1.37
AK313118 BAG35939 P22557 EC 2.3.1.37
X56352 CAA39795 P22557 EC 2.3.1.37
X60364 CAA42916 P22557 EC 2.3.1.37

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens ALAS2 NP_000023 R.norvegicus LOC100363476 100363476   XP_002730269 95
M.musculus Alas2 11656 Gene Info NP_033783 90
D.melanogaster Alas 37815   NP_477281 58
A.gambiae AgaP_AGAP003184 1273856   XP_312882 57
N.crassa NCU06189 3879149   XP_963001 55
S.pombe hem1 2542028   NP_594388 51
S.cerevisiae HEM1 851818   NP_010518 47

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta