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
187607632008C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.70
161211952005Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.61
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.41
239350182014Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.32
216533232011ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.25
227406902012X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).25
232638622013Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).18
241667842014X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.18
213090412011Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.13
126634582003A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.11

Citation

Dessen P

ALAS2 (5-aminolevulinate synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50876/alas2