ALAS2 (5-aminolevulinate synthase 2)

2009-05-01  

Identity

HGNC
ALAS2
LOCATION
Xp11.21
LOCUSID
212
ALIAS
ALAS-E,ALASE,ANH1,ASB,SIDBA1,XLDPP,XLEPP,XLSA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 212
MIM: 301300
HGNC: 397
Ensembl: ENSG00000158578

Variants:

dbSNP: 212
ClinVar: 212
TCGA: ENSG00000158578
COSMIC: ALAS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158578ENST00000335854P22557
ENSG00000158578ENST00000396198P22557
ENSG00000158578ENST00000455688H0Y6R3
ENSG00000158578ENST00000477869A0A2R8Y836
ENSG00000158578ENST00000493869A0A2R8Y6R4
ENSG00000158578ENST00000498636A0A2R8Y6N3
ENSG00000158578ENST00000644983A0A2R8Y782
ENSG00000158578ENST00000650242P22557

Expression (GTEx)

0
100
200
300
400
500
600
700
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Porphyrin and chlorophyll metabolismKEGGko00860
Glycine, serine and threonine metabolismKEGGhsa00260
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

References

Pubmed IDYearTitleCitations
344114312022A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.1
344906132022Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.1
356372092022Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.5
344114312022A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.1
344906132022Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.1
356372092022Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.5
335966412021A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.12
335966412021A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.12
318486842020Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia.1
322974242020Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.1
324994792020Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.16
330679792020[Knockdown of ALAS2 Affects Erythroid Differentiation by Down-regulating Mitophagy Receptor BNIP3L].2
318486842020Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia.1
322974242020Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.1
324994792020Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.16

Citation

Dessen P

ALAS2 (5-aminolevulinate synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50876/alas2-(5-aminolevulinate-synthase-2)