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Alas2 Gene Detail
Summary
  • Symbol
    Alas2
  • Name
    aminolevulinic acid synthase 2, erythroid
  • Synonyms
    5-aminolevulinate synthase, ALAS, Alas-2, ALASE, ALAS-E, erythroid-specific ALAS
  • Feature Type
    protein coding gene
  • IDs
    MGI:87990
    NCBI Gene: 11656
  • Gene Overview
    MyGene.info: ALAS2
Location & Maps
more
  • Sequence Map
    ChrX:150547375-150570638 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23264 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    ALAS2, 5'-aminolevulinate synthase 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ALAS2, 5'-aminolevulinate synthase 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALASE, ALAS-E, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
  • Links
    NCBI Gene ID: 212
    neXtProt AC: NX_P22557

  • Chr Location
    Xp11.21; chrX:55009055-55031064 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ALAS2 associations

Human Disease Mouse Models
       Anemia, Sideroblastic, 1; SIDBA1   OMIM: 300751
Protoporphyria, Erythropoietic, X-Linked; XLEPP   OMIM: 300752
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    3 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    2
  • Targeted
    2
Homozygous mutation of this gene results in embryonic lethality and severe anemia due to arrest of fetal hematopoiesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019150 VEGA Gene Model | MGI Sequence Detail 23264 C57BL/6J ±  kb
transcript OTTMUST00000045893 VEGA | MGI Sequence Detail 2037 Not Applicable  
polypeptide OTTMUSP00000020679 VEGA | MGI Sequence Detail 587 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    162 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003917 5-aminolevulinate synthase, erythroid-specific, mitochondrial
  • PDB
  • EC
  • InterPro Domains
    IPR015118 5-aminolevulinate synthase presequence
    IPR004839 Aminotransferase, class I/classII
    IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
    IPR010961 Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
Molecular
Reagents
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  • All nucleic 106
    cDNA 101
    Primer pair 4
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1269, MGD-MRK-1271
References
more
  • Summaries
    All 65
    Developmental Gene Expression 21
    Gene Ontology 10
    Phenotypes 3
  • Earliest
    J:8626 Schoenhaut DS, et al., Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues. Gene. 1986;48(1):55-63
  • Latest
    J:218451 Stojanovski BM, et al., Catalytically active alkaline molten globular enzyme: Effect of pH and temperature on the structural integrity of 5-aminolevulinate synthase. Biochim Biophys Acta. 2014 Sep 18;1844(12):2145-2154

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory