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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] See more...
Aliases for ALAS2 Gene
Aliases for ALAS2 Gene
External Ids for ALAS2 Gene
- HGNC: 397
- Entrez Gene: 212
- Ensembl: ENSG00000158578
- OMIM: 301300
- UniProtKB: P22557
Previous HGNC Symbols for ALAS2 Gene
- ASB
Previous GeneCards Identifiers for ALAS2 Gene
- GC0XM051887
- GC0XM052973
- GC0XM053640
- GC0XM054002
- GC0XM054918
- GC0XM055053
- GC0XM052086
- GC0XM055035
Summaries for ALAS2 Gene
-
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]
GeneCards Summary for ALAS2 Gene
ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is ALAS1.
Additional gene information for ALAS2 Gene
- HGNC(397)
- Entrez Gene(212)
- Ensembl(ENSG00000158578)
- OMIM(301300)
- UniProtKB(P22557)
- Open Targets Platform(ENSG00000158578)
- Monarch Initiative
- Search for ALAS2 at DataMed
- Search for ALAS2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALAS2 Gene
Genomics for ALAS2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALAS2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ055031 | Promoter | 0.6 | EPDnew | 600.7 | +0.1 | 93 | 0.1 | ZNF512 PRDM1 ZNF24 ATF4 VEZF1 MLLT1 | ALAS2 PAGE2B lnc-PFKFB1-2 | |
| GH0XJ055030 | Promoter | 0.6 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | ZNF512 ZNF24 VEZF1 | ALAS2 lnc-PFKFB1-2 PAGE2B piR-50852-179 PAGE2 | |
| GH0XJ055032 | Enhancer | 0.5 | Ensembl | 600.7 | +0.5 | 476 | 0.2 | ZNF512 PRDM1 ZNF24 ATF4 MLLT1 | ALAS2 lnc-PFKFB1-2 PAGE2B | |
| GH0XJ055074 | Promoter | 0.6 | EPDnew | 13.3 | -44.0 | -44032 | 0.1 | NRF1 MGA L3MBTL2 | PAGE2B ALAS2 piR-57965-061 PAGE2 | |
| GH0XJ055016 | Enhancer | 0.2 | FANTOM5 | 3.5 | +14.4 | 14402 | 0.2 | ALAS2 lnc-ALAS2-2 PAGE2B APEX2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALAS2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALAS2
- Top Transcription factor binding sites by QIAGEN in the ALAS2 gene promoter:
-
- FOXL1
- GATA-1
- GCNF
- GCNF-1
- GCNF-2
- IRF-1
- IRF-2
- TBP
Genomic Locations for ALAS2 Gene
Genomic Locations for ALAS2 Gene
- chrX:55,009,055-55,030,977
- (GRCh38/hg38)
- Size:
- 21,923 bases
- Orientation:
- Minus strand
- chrX:55,035,488-55,057,497
- (GRCh37/hg19)
- Size:
- 22,010 bases
- Orientation:
- Minus strand
Genomic View for ALAS2 Gene
Genes around ALAS2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.21 by HGNC
- Xp11.21 by Entrez Gene
- Xp11.21 by Ensembl
ALAS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALAS2 Gene
Proteins for ALAS2 Gene
-
Protein details for ALAS2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22557-HEM0_HUMAN
- Recommended name:
- 5-aminolevulinate synthase, erythroid-specific, mitochondrial
- Protein Accession:
- P22557
- A8K3F0
- A8K6C4
- Q13735
- Q5JZF5
- Q8N6H3
Protein attributes for ALAS2 Gene
- Size:
- 587 amino acids
- Molecular mass:
- 64633 Da
- Cofactor:
- Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
- Quaternary structure:
-
- Homodimer. Interacts with SUCLA2.
- SequenceCaution:
-
- Sequence=CAA39795.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues.
- [Isoform 2]: Constitutes 35-45% of erythrocytes ALAS2 mRNAs. Catalytic activity is 70% of isoform 1 activity.
- [Isoform 3]: Catalytic activity is 80% of isoform 1 activity.
Three dimensional structures from OCA and Proteopedia for ALAS2 Gene
Protein Expression for ALAS2 Gene
Selected DME Specific Peptides for ALAS2 Gene
- P22557:
-
- FSSCFVAND
- DEVHAVGLYG
- EGQALRRAHQRNVKHMRQLL
- VWCSNDYL
- VHSMDGA
- GCVGGYIA
- GALESVR
- VANDSTL
- CNFCRRP
- SDAGNHASMI
- PKIVAFE
- HFELMSE
- PGCEIYSD
- GFIFTTSLPP
- DIISGTLGKA
- VDMVRSYA
- IYVQAIN
- YRVFKTVNR
- CPSHIIP
- GAGGTRNI
Post-translational modifications for ALAS2 Gene
Other Protein References for ALAS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-ALAS2/ALAS1 (aa 211-55) polyclonal antibody
- Creative Biolabs Recombinant Mouse Anti-Human ALAS2 Antibody and Mouse Anti-ALAS2 Recombinant Antibody (2E4)
- Novus Biologicals Antibodies for ALAS2
-
Abcam antibodies for ALAS2
- Invitrogen Antibodies for ALAS2 (AFLGC-ALAS2)
-
Boster Bio Antibodies for ALAS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALAS2
- Sino Biological Antibodies for ALAS2
Protein Products
-
OriGene Purified Proteins for ALAS2
- Search Origene for MassSpec and Protein Over-expression Lysates for ALAS2
- Origene Custom Protein Services for ALAS2
-
Signalway Proteins for ALAS2
-
Abcam proteins for ALAS2
Domains & Families for ALAS2 Gene
Gene Families for ALAS2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for ALAS2 Gene
- InterPro:
- Blocks:
-
- Aminotransferase, class-II
- ProtoNet:
Suggested Antigen Peptide Sequences for ALAS2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ93603, highly similar to Homo sapiens aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) (ALAS2), nuclear gene encoding mitochondrial protein, mRNA (A8K3F0_HUMAN)
- cDNA FLJ77319, highly similar to Homo sapiens aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia), mRNA (A8K6C4_HUMAN)
- Aminolevulinate, delta-, synthase 2 (B7ZB88_HUMAN)
- Delta-aminolevulinate synthase 2 (HEM0_HUMAN)
- 5-aminoevulinate synthase 2 (Q6QNT2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P22557UniProtKB/Swiss-Prot:
HEM0_HUMAN :- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
- Family:
-
- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Function for ALAS2 Gene
Molecular function for ALAS2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA; Xref=Rhea:RHEA:12921, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:57305, ChEBI:CHEBI:356416; EC=2.3.1.37; Evidence={ECO:0000269|PubMed:14643893};.
- GENATLAS Biochemistry:
- aminolevulinate,delta-,synthase 2,erythroid,mitochondrial,pyridoxal dependent,catalyzing the first step of porphyrin biosynthesis,with a transcription factor binding site
Enzyme Numbers (IUBMB) for ALAS2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003870 | 5-aminolevulinate synthase activity | IEA,IDA | 14643893 |
| GO:0005515 | protein binding | IPI | 10727444 |
| GO:0016594 | glycine binding | ISS | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for ALAS2 Gene
- MGI mutant phenotypes for ALAS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ALAS2:
Animal Models for ALAS2 Gene
- MGI Knock Outs for ALAS2:
-
- Alas2 Alas2<tm1Mym>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALAS2 - Select products 50% OFF >
- * ALAS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALAS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALAS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALAS2
miRNA for ALAS2 Gene
- miRTarBase miRNAs that target ALAS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALAS2
- Browse OriGene Inhibitory RNA Products For ALAS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAS2
Clone Products
- Applied Biological Materials (abm): Clones for ALAS2 - Select products 50% OFF >
- * ALAS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222911
- MG222913
- MR222911
- MR222911L3
- MR222911L4
- MR222913
- MR222913L3
- MR222913L4
- RC206567
- RC206567L3
- RC206567L4
- RC218323
- RC218323L3
- RC218323L4
- RC219079
- RC219079L3
- RC219079L4
- RG206567
- RG218323
- RG219079
- RR206736
- RR206736L3
- RR206736L4
- MR222911L3V
- MR222911L4V
- MR222913L3V
- MR222913L4V
- RC206567L3V
- RC206567L4V
- RC218323L3V
- RC218323L4V
- RC219079L3V
- RC219079L4V
- RR206736L3V
- RR206736L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ALAS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALAS2
Cell Line Products
-
Horizon Cell Lines for ALAS2
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ALAS2 Gene
Localization for ALAS2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALAS2 Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| extracellular | 3 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 10727444 |
| GO:0005743 | mitochondrial inner membrane | IDA | 14643893 |
| GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALAS2 Gene
Pathways & Interactions for ALAS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Glycine, serine and threonine metabolism | ||
Pathways by source for ALAS2 Gene
3 BioSystems pathways for ALAS2 Gene
3 Reactome pathways for ALAS2 Gene
3 KEGG pathways for ALAS2 Gene
UniProtKB/Swiss-Prot P22557-HEM0_HUMAN
- Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001666 | response to hypoxia | IDA | 16234850 |
| GO:0006778 | porphyrin-containing compound metabolic process | IEA | -- |
| GO:0006782 | protoporphyrinogen IX biosynthetic process | IEA | -- |
| GO:0006783 | heme biosynthetic process | TAS | -- |
| GO:0006879 | cellular iron ion homeostasis | ISS | -- |
Drugs & Compounds for ALAS2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Glycine | Approved, Vet_approved | Nutra | Agonist, Full agonist, Target, substrate | 196 | ||
| Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
| Aminolevulinic acid | Approved | Pharma | 193 | |||
| Iron | Approved, Experimental | Pharma | 1560 | |||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Formyl-CoA |
|
13131-49-2 |
|
Transcripts for ALAS2 Gene
mRNA/cDNA for ALAS2 Gene
- 4 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000396198 1936 nts (view in UCSC)
- ENST00000650242 1940 nts (view in UCSC)
- ENST00000335854 1795 nts (view in UCSC)
- ENST00000498636 959 nts (view in UCSC)
- ENST00000463868 646 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALAS2 - Select products 50% OFF >
- * ALAS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALAS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALAS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALAS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALAS2
- Browse OriGene Inhibitory RNA Products For ALAS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALAS2
Clone Products
- Applied Biological Materials (abm): Clones for ALAS2 - Select products 50% OFF >
- * ALAS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222911
- MG222913
- MR222911
- MR222911L3
- MR222911L4
- MR222913
- MR222913L3
- MR222913L4
- RC206567
- RC206567L3
- RC206567L4
- RC218323
- RC218323L3
- RC218323L4
- RC219079
- RC219079L3
- RC219079L4
- RG206567
- RG218323
- RG219079
- RR206736
- RR206736L3
- RR206736L4
- MR222911L3V
- MR222911L4V
- MR222913L3V
- MR222913L4V
- RC206567L3V
- RC206567L4V
- RC218323L3V
- RC218323L4V
- RC219079L3V
- RC219079L4V
- RR206736L3V
- RR206736L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ALAS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALAS2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - |
Relevant External Links for ALAS2 Gene
- GeneLoc Exon Structure for
- ALAS2
Expression for ALAS2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
-
Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Mesenchymal Stem Cells
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Dermis (Integumentary System)
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Dorsal Dermis
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
-
Umbilical Cord (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Lung (Respiratory System)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for ALAS2 Gene
This gene is overexpressed in Whole Blood (x51.5).
This gene is overexpressed in Peripheral blood mononuclear cells (58.1) and Fetal Liver (10.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALAS2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALAS2
SOURCE GeneReport for Unigene cluster for ALAS2 Gene:
Hs.522666mRNA Expression by UniProt/SwissProt for ALAS2 Gene:
P22557-HEM0_HUMAN
Tissue specificity:
Erythroid specific.
Evidence on tissue expression from TISSUES for ALAS2 Gene
- Blood(4.9)
- Liver(4.8)
- Lung(4.3)
- Pancreas(4.2)
- Bone marrow(3.5)
- Nervous system(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALAS2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- gallbladder
- intestine
- liver
- pancreas
- small intestine
General:
- blood
- blood vessel
- bone marrow
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ALAS2
Gene Expression Assay Products
Orthologs for ALAS2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALAS2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ALAS2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALAS2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Alas2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Alas2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ALAS2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ALAS2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ALAS2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alas2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | alas2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Alas 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003184 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15059g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL104C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HEM1 30 31 33 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06189 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hem1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8623 31 |
|
OneToMany |
- Species where no ortholog for ALAS2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ALAS2 Gene
- ENSEMBL:
- Gene Tree for ALAS2 (if available)
- TreeFam:
- Gene Tree for ALAS2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALAS2: view image
Paralogs for ALAS2 Gene
Variants for ALAS2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALAS2 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 673081 | Benign: not provided | 55,013,171(-) | T/C | INTRON_VARIANT | |
| 674110 | Benign: not provided | 55,023,560(-) | T/C | INTRON_VARIANT | |
| 674111 | Likely Benign: not provided | 55,015,916(-) | C/T | INTRON_VARIANT | |
| 674644 | Benign: not provided | 55,021,308(-) | G/A | INTRON_VARIANT | |
| 681414 | Likely Benign: not provided | 55,017,645(-) | C/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2740175 | CNV | deletion | 23290073 |
| nsv435891 | CNV | deletion | 17901297 |
Residual Variation Intolerance Score:
70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.03;
21.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALAS2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALAS2 Gene
Disorders for ALAS2 Gene
(29) MalaCards diseases for ALAS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| anemia, sideroblastic, 1 |
|
|
| protoporphyria, erythropoietic, x-linked |
|
|
| sideroblastic anemia |
|
|
| pyridoxine-responsive sideroblastic anemia |
|
|
| microcytic anemia |
|
Search ALAS2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HEM0_HUMAN- Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. {ECO:0000269 PubMed:10029606, ECO:0000269 PubMed:10577279, ECO:0000269 PubMed:12031592, ECO:0000269 PubMed:12393718, ECO:0000269 PubMed:1570328, ECO:0000269 PubMed:16446107, ECO:0000269 PubMed:19731322, ECO:0000269 PubMed:21252495, ECO:0000269 PubMed:21309041, ECO:0000269 PubMed:8107717, ECO:0000269 PubMed:9858242}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Erythropoietic protoporphyria, X-linked dominant (XLDPT) [MIM:300752]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. {ECO:0000269 PubMed:18760763}. Note=The disease is caused by mutations affecting the gene represented in this entry. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). {ECO:0000269 PubMed:21309041}.
Additional Disease Information for ALAS2
No data available for Genatlas for ALAS2 Gene
Publications for ALAS2 Gene
- Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann AK … Neufeld EJ (Pediatric blood & cancer 2010) 3 4 23
- C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. (PMID: 18760763) Whatley SD … Puy H (American journal of human genetics 2008) 3 4 23
- The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. (PMID: 14643893) Cox TC … May BK (The international journal of biochemistry & cell biology 2004) 3 4 23
- Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (PMID: 12393718) Cazzola M … Bishop DF (Blood 2002) 3 4 23
- A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (PMID: 10577279) Harigae H … Sasaki T (American journal of hematology 1999) 3 4 23
ExternalLinks
Products for ALAS2 Gene
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Sources for ALAS2 Gene
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