Gene

alas2

ID
ZDB-GENE-001229-1
Name
aminolevulinate, delta-, synthase 2
Symbol
alas2 Nomenclature History
Previous Names
  • alas-e
  • sau (1)
  • cb1063 (1)
  • sauternes (1)
  • si:dkey-24f17.4
  • si:dkey-24f17none
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have 5-aminolevulinate synthase activity. Involved in heme biosynthetic process; hemoglobin biosynthetic process; and hemopoiesis. Predicted to localize to mitochondrial inner membrane. Is expressed in erythroid progenitor cell; hematopoietic system; mesoderm; and pronephric duct. Used to study sideroblastic anemia. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
31 figures from 23 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With alas2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
erythropoietic protoporphyria Alliance Protoporphyria, erythropoietic, X-linked 300752
sideroblastic anemia 1 Alliance Anemia, sideroblastic, 1 300751
Associated With alas2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
Domain IPR004839 Aminotransferase, class I/classII
Domain IPR010961 Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
Domain IPR015118 5-aminolevulinate synthase presequence
Homologous_superfamily IPR015421 Pyridoxal phosphate-dependent transferase, major domain
Homologous_superfamily IPR015422 Pyridoxal phosphate-dependent transferase domain 1
Homologous_superfamily IPR015424 Pyridoxal phosphate-dependent transferase
Domain Details Per Protein
Protein Length 5-aminolevulinate synthase presequence Aminotransferase, class I/classII Aminotransferase, class-II, pyridoxal-phosphate binding site Pyridoxal phosphate-dependent transferase Pyridoxal phosphate-dependent transferase domain 1 Pyridoxal phosphate-dependent transferase, major domain Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
UniProtKB:Q9YHT4 583
UniProtKB:A0A0R4IU72 585
UniProtKB:Q5RIZ3 109
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-alas2 polyclonal IgG Rabbit
  • WB
GeneTex
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations