Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ALAS2 (5'-aminolevulinate synthase 2) Homo sapiens
Analyze
Symbol: ALAS2
Name: 5'-aminolevulinate synthase 2
Description: The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; ALASE; aminolevulinate, delta-, synthase 2; aminolevulinic acid synthase 2; ANH1; ASB; delta-ALA synthase 2; delta-ALA synthetase; delta-aminolevulinate synthase 2; FLJ93603; SIDBA1; XLDPP; XLEPP; XLSA
Orthologs:
Mus musculus (house mouse) : Alas2 (aminolevulinic acid synthase 2, erythroid)  MGI  Alliance
Rattus norvegicus (Norway rat) : Alas2 (5'-aminolevulinate synthase 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Alas2 (5'-aminolevulinate synthase 2)
Pan paniscus (bonobo/pygmy chimpanzee) : ALAS2 (5'-aminolevulinate synthase 2)
Canis lupus familiaris (dog) : ALAS2 (5'-aminolevulinate synthase 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Alas2 (5'-aminolevulinate synthase 2)
Sus scrofa (pig) : ALAS2 (5'-aminolevulinate synthase 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X55,009,055 - 55,031,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,497 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ALAS2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736755
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.