Details for: ALAS2
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
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.
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.
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
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
PubMed ID: 2050125
Title: Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA.
PubMed ID: 2050125
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
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
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
PubMed ID: 32499479
Title: Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
PubMed ID: 32499479
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
PubMed ID: 1570328
Title: Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
PubMed ID: 1570328
PubMed ID: 9858242
Title: R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
PubMed ID: 9858242
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
PubMed ID: 12031592
Title: A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
PubMed ID: 12031592
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
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
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
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.