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Alas2 Gene Detail
Summary
  • Symbol
    Alas2
  • Name
    aminolevulinic acid synthase 2, erythroid
  • Synonyms
    5-aminolevulinate synthase, ALAS, Alas-2, ALAS-E, ALASE, erythroid-specific ALAS
  • Feature Type
    protein coding gene
  • IDs
    MGI:87990
    NCBI Gene: 11656
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:149330443-149353614 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    583 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87990
 protein coding gene ChrX:149330371-149353634 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036169
 protein coding gene ChrX:148275568-148299757 (+)
A/J MGP_AJ_G0036145
 protein coding gene ChrX:147480710-147504972 (+)
AKR/J MGP_AKRJ_G0036071
 protein coding gene ChrX:152272613-152296065 (+)
BALB/cJ MGP_BALBcJ_G0036136
 protein coding gene ChrX:145681992-145705383 (+)
C3H/HeJ MGP_C3HHeJ_G0035844
 protein coding gene ChrX:148472124-148495647 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036661
 protein coding gene ChrX:152440569-152463837 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033485
 protein coding gene ChrX:139324873-139348681 (+)
CAST/EiJ MGP_CASTEiJ_G0035134
 protein coding gene ChrX:127928542-127954481 (+)
CBA/J MGP_CBAJ_G0035821
 protein coding gene ChrX:157006058-157031019 (+)
DBA/2J MGP_DBA2J_G0035979
 protein coding gene ChrX:146581424-146604767 (+)
FVB/NJ MGP_FVBNJ_G0035913
 protein coding gene ChrX:145733369-145756582 (+)
LP/J MGP_LPJ_G0036070
 protein coding gene ChrX:149331422-149354675 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035949
 protein coding gene ChrX:165044053-165067305 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036696
 protein coding gene ChrX:147786571-147809834 (+)
PWK/PhJ MGP_PWKPhJ_G0034829
 protein coding gene ChrX:124903890-124927798 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034655
 protein coding gene ChrX:128390236-128414548 (+)
WSB/EiJ MGP_WSBEiJ_G0035270
 protein coding gene ChrX:145871678-145894941 (+)



Homology
more
  • Human Ortholog
    ALAS2, 5'-aminolevulinate synthase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALAS2, 5'-aminolevulinate synthase 2
  • Synonyms
    ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
  • Links
    NCBI Gene ID: 212
    neXtProt AC: NX_P22557
    UniProt: P22557

  • Chr Location
    Xp11.21; chrX:55009055-55030977 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human ALAS2 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
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
    5 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.
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
    26
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    869
  • Tissues
    148
  • cDNA Data
    101
  • Literature Summary
    26
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 11656 NCBI Gene Model | MGI Sequence Detail 23172 C57BL/6J ±  kb
transcript NM_001409472 RefSeq | MGI Sequence Detail 1984 C57BL/6  
polypeptide P08680 UniProt | EBI | MGI Sequence Detail 587 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003917 5-aminolevulinate synthase, erythroid-specific, mitochondrial
    (term hierarchy)
  • PDB
    1H7D, 1H7J
  • EC
    2.3.1.37
  • InterPro Domains
    IPR015118 5-aminolevulinate synthase presequence
    IPR050087 8-amino-7-oxononanoate synthase class-II
    IPR004839 Aminotransferase, class I/classII
    IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    IPR015422 Pyridoxal phosphate-dependent transferase, small domain
    IPR010961 Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
Molecular
Reagents
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  • All nucleic 112
    cDNA 102
    Primer pair 8
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1269, MGD-MRK-1271
References
more
  • Summaries
    All 79
    Developmental Gene Expression 26
    Gene Ontology 14
    Phenotypes 5
  • 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:358328 Ducamp S, et al., Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. Blood. 2024 Sep 26;144(13):1418-1432
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory