Details for: ALAS2

Gene ID: 212

Symbol: ALAS2

Ensembl ID: ENSG00000158578

Description: 5'-aminolevulinate synthase 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 74.0218
    Cell Significance Index: 33.7100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 5.1253
    Cell Significance Index: -1.3000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 4.9968
    Cell Significance Index: -2.0300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.4859
    Cell Significance Index: 58.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 2.1158
    Cell Significance Index: -2.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.0432
    Cell Significance Index: 65.4400
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 1.4732
    Cell Significance Index: 7.7500
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.0671
    Cell Significance Index: 12.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8885
    Cell Significance Index: 169.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5388
    Cell Significance Index: 11.4800
  • Cell Name: enucleate erythrocyte (CL0000595)
    Fold Change: 0.5085
    Cell Significance Index: 2.6300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4731
    Cell Significance Index: 46.8000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4328
    Cell Significance Index: 390.8200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 0.3801
    Cell Significance Index: -1.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3788
    Cell Significance Index: 22.7400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3575
    Cell Significance Index: 38.8900
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.2809
    Cell Significance Index: 2.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2676
    Cell Significance Index: 43.5300
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.2508
    Cell Significance Index: 1.1100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1953
    Cell Significance Index: 13.5100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1784
    Cell Significance Index: 2.5900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1478
    Cell Significance Index: 3.9600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1148
    Cell Significance Index: 5.9800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0976
    Cell Significance Index: 2.4400
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.0733
    Cell Significance Index: 0.2100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0562
    Cell Significance Index: 0.7200
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0474
    Cell Significance Index: 0.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0465
    Cell Significance Index: 1.3400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.0362
    Cell Significance Index: 0.5800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0337
    Cell Significance Index: 6.6900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0221
    Cell Significance Index: 0.5800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0125
    Cell Significance Index: 0.2600
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: 0.0101
    Cell Significance Index: 0.0500
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.0082
    Cell Significance Index: 0.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0067
    Cell Significance Index: 0.4200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0060
    Cell Significance Index: 0.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0029
    Cell Significance Index: 5.3800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.0027
    Cell Significance Index: 0.0700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0025
    Cell Significance Index: 3.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0023
    Cell Significance Index: 0.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0019
    Cell Significance Index: 0.3500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0017
    Cell Significance Index: 3.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0017
    Cell Significance Index: 2.3100
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.0008
    Cell Significance Index: 0.0100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0012
    Cell Significance Index: -0.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0019
    Cell Significance Index: -1.4700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0020
    Cell Significance Index: -1.4900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0021
    Cell Significance Index: -1.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0022
    Cell Significance Index: -1.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0025
    Cell Significance Index: -1.8400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0026
    Cell Significance Index: -0.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0029
    Cell Significance Index: -1.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0036
    Cell Significance Index: -1.6300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0039
    Cell Significance Index: -0.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0039
    Cell Significance Index: -0.2400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0044
    Cell Significance Index: -0.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0060
    Cell Significance Index: -1.7200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0076
    Cell Significance Index: -1.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0077
    Cell Significance Index: -1.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0085
    Cell Significance Index: -1.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0085
    Cell Significance Index: -0.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0089
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0090
    Cell Significance Index: -1.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0098
    Cell Significance Index: -0.6000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0104
    Cell Significance Index: -1.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0113
    Cell Significance Index: -1.3900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0133
    Cell Significance Index: -0.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0139
    Cell Significance Index: -1.4500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0161
    Cell Significance Index: -0.2300
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0166
    Cell Significance Index: -0.1300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0177
    Cell Significance Index: -0.7200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0187
    Cell Significance Index: -0.5000
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.0200
    Cell Significance Index: -0.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0202
    Cell Significance Index: -1.5500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0203
    Cell Significance Index: -1.1400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0209
    Cell Significance Index: -0.3000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0221
    Cell Significance Index: -0.1800
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0239
    Cell Significance Index: -0.3500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0241
    Cell Significance Index: -1.6200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0257
    Cell Significance Index: -0.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0258
    Cell Significance Index: -0.6900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0287
    Cell Significance Index: -0.6000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0314
    Cell Significance Index: -1.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0320
    Cell Significance Index: -1.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0326
    Cell Significance Index: -1.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0347
    Cell Significance Index: -2.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0350
    Cell Significance Index: -0.9000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0357
    Cell Significance Index: -1.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0357
    Cell Significance Index: -1.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0403
    Cell Significance Index: -1.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0407
    Cell Significance Index: -1.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0412
    Cell Significance Index: -1.3500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0430
    Cell Significance Index: -0.7200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0436
    Cell Significance Index: -1.6000
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0488
    Cell Significance Index: -0.6300
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: -0.0501
    Cell Significance Index: -0.3900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0510
    Cell Significance Index: -0.6800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0537
    Cell Significance Index: -1.3400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0559
    Cell Significance Index: -0.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** ALAS2 is a mitochondrial enzyme that catalyzes the first committed step in the heme biosynthetic pathway. This reaction involves the condensation of glycine and succinyl-CoA to form 5'-aminolevulinate (ALA), which is then converted into porphobilinogen and subsequently into heme. ALAS2 has been shown to be erythroid-specific, meaning it is predominantly expressed in erythroid cells, where it plays a critical role in the production of hemoglobin. **Pathways and Functions** The ALAS2 gene is involved in several key pathways, including: 1. **Heme biosynthesis**: ALAS2 is the rate-limiting enzyme in the heme biosynthetic pathway, which is essential for the production of heme. 2. **Erythrocyte development**: ALAS2 is specifically expressed in proerythroblasts and promyelocytes, where it plays a critical role in the production of hemoglobin. 3. **Heme biosynthetic process**: ALAS2 is involved in the conversion of ALA to porphobilinogen, a key step in the heme biosynthetic pathway. 4. **Hemoglobin biosynthetic process**: ALAS2 is essential for the production of heme, which is a critical component of hemoglobin. 5. **Intracellular iron ion homeostasis**: ALAS2 helps regulate iron levels within the cell by controlling the production of heme. 6. **Intracellular oxygen homeostasis**: ALAS2 is regulated by hypoxia, highlighting its importance in responding to changes in oxygen levels. **Clinical Significance** Dysregulation of the ALAS2 gene has been implicated in various diseases, including: 1. **Erythropoietic disorders**: Mutations in ALAS2 can lead to defects in heme biosynthesis, resulting in anemia and other erythropoietic disorders. 2. **Porphyrin disorders**: ALAS2 mutations can also lead to defects in the heme biosynthetic pathway, resulting in porphyria, a group of disorders characterized by the accumulation of porphyrins. 3. **Cancer**: ALAS2 has been shown to be overexpressed in certain types of cancer, including leukemia and lymphoma, where it may contribute to tumorigenesis. In conclusion, the ALAS2 gene plays a critical role in the biosynthesis of heme, a vital component of hemoglobin and other hemoproteins. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining cellular homeostasis and preventing disease.

Genular Protein ID: 1196948901

Symbol: HEM0_HUMAN

Name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2263504

Title: Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.

PubMed ID: 2263504

DOI: 10.1093/nar/18.23.7187

PubMed ID: 2050125

Title: Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA.

PubMed ID: 2050125

DOI: 10.1002/j.1460-2075.1991.tb07715.x

PubMed ID: 9642238

Title: Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene.

PubMed ID: 9642238

DOI: 10.1074/jbc.273.27.16798

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14643893

Title: The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.

PubMed ID: 14643893

DOI: 10.1016/s1357-2725(03)00246-2

PubMed ID: 32499479

Title: Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.

PubMed ID: 32499479

DOI: 10.1038/s41467-020-16586-x

PubMed ID: 8107717

Title: X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.

PubMed ID: 8107717

DOI: 10.1056/nejm199403103301004

PubMed ID: 1570328

Title: Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

PubMed ID: 1570328

DOI: 10.1073/pnas.89.9.4028

PubMed ID: 9858242

Title: R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.

PubMed ID: 9858242

DOI: 10.1046/j.1365-2141.1998.01050.x

PubMed ID: 10577279

Title: A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.

PubMed ID: 10577279

DOI: 10.1002/(sici)1096-8652(199910)62:2<112::aid-ajh9>3.0.co;2-l

PubMed ID: 10029606

Title: Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

PubMed ID: 10029606

PubMed ID: 12393718

Title: Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

PubMed ID: 12393718

DOI: 10.1182/blood-2002-03-0685

PubMed ID: 12031592

Title: A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.

PubMed ID: 12031592

DOI: 10.1016/s0009-8981(02)00095-5

PubMed ID: 16446107

Title: Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.

PubMed ID: 16446107

DOI: 10.1016/j.bcmd.2005.12.004

PubMed ID: 18760763

Title: C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

PubMed ID: 18760763

DOI: 10.1016/j.ajhg.2008.08.003

PubMed ID: 19731322

Title: Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

PubMed ID: 19731322

DOI: 10.1002/pbc.22244

PubMed ID: 21252495

Title: New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.

PubMed ID: 21252495

DOI: 10.1159/000322870

PubMed ID: 21653323

Title: ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

PubMed ID: 21653323

DOI: 10.1182/blood-2011-03-342873

PubMed ID: 21309041

Title: Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.

PubMed ID: 21309041

DOI: 10.1002/humu.21455

Sequence Information:

  • Length: 587
  • Mass: 64633
  • Checksum: FD821BE245C440B5
  • Sequence:
  • MVTAAMLLQC CPVLARGPTS LLGKVVKTHQ FLFGIGRCPI LATQGPNCSQ IHLKATKAGG 
    DSPSWAKGHC PFMLSELQDG KSKIVQKAAP EVQEDVKAFK TDLPSSLVSV SLRKPFSGPQ 
    EQEQISGKVT HLIQNNMPGN YVFSYDQFFR DKIMEKKQDH TYRVFKTVNR WADAYPFAQH 
    FSEASVASKD VSVWCSNDYL GMSRHPQVLQ ATQETLQRHG AGAGGTRNIS GTSKFHVELE 
    QELAELHQKD SALLFSSCFV ANDSTLFTLA KILPGCEIYS DAGNHASMIQ GIRNSGAAKF 
    VFRHNDPDHL KKLLEKSNPK IPKIVAFETV HSMDGAICPL EELCDVSHQY GALTFVDEVH 
    AVGLYGSRGA GIGERDGIMH KIDIISGTLG KAFGCVGGYI ASTRDLVDMV RSYAAGFIFT 
    TSLPPMVLSG ALESVRLLKG EEGQALRRAH QRNVKHMRQL LMDRGLPVIP CPSHIIPIRV 
    GNAALNSKLC DLLLSKHGIY VQAINYPTVP RGEELLRLAP SPHHSPQMME DFVEKLLLAW 
    TAVGLPLQDV SVAACNFCRR PVHFELMSEW ERSYFGNMGP QYVTTYA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.