ALAS2 (5'-aminolevulinate synthase 2) - Rat Genome Database

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Gene: ALAS2 (5'-aminolevulinate synthase 2) Homo sapiens
Analyze
Symbol: ALAS2
Name: 5'-aminolevulinate synthase 2
RGD ID: 736755
HGNC Page HGNC:397
Description: Enables 5-aminolevulinate synthase activity. Involved in response to hypoxia. Located in mitochondrial inner membrane. Implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Biomarker of acute intermittent porphyria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; ALASE; aminolevulinate, delta-, synthase 2; aminolevulinic acid synthase 2; ANH1; ASB; delta-ALA synthase 2; delta-ALA synthetase; delta-aminolevulinate synthase 2; erythroid-specific delta-aminolevulinate synthase; FLJ93603; SIDBA1; XLDPP; XLEPP; XLSA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
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Original Reference(s)
ALAS2Humanacute intermittent porphyria  IEP 18337288mRNA:increased expression:peripheral blood mononuclear cell (human)RGD 
ALAS2Humananemia  ISOAlas2 (Rattus norvegicus)10449049mRNA:decreased expression:liver:RGD 
ALAS2Humanbilirubin metabolic disorder  ISOAlas2 (Rattus norvegicus)11035235protein:decreased activity:liver:RGD 
ALAS2Humancutaneous porphyria severityIAGP 11035240DNA:mutation:exon: c.1757 A > T and p.Y586F (human)RGD 
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP 18337286DNA:deletions:exon: c.1699-1700delAT and c.1706-1709delAGTG (human)RGD 
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant disease_progressionIAGP 18337287DNA:deletions:exon: c.1699-1700delAT and c.1706-1709delAGTG (human)RGD 
ALAS2Humanhemochromatosis severityIAGP 11035246DNA:mutation:cds:c.15599C>T and p.520L(human)RGD 
ALAS2Humanhemolytic anemia  ISOAlas2 (Rattus norvegicus)1599038mRNA:increased expression:liver (rat)RGD 
ALAS2Humansideroblastic anemia susceptibilityIAGP 1599037DNA:transversion:cds:p.F165L (human)RGD 
ALAS2Humansideroblastic anemia 1 onsetIAGP 11035241DNA:mutations:exons:p.K299Q and A172T(human)RGD 
ALAS2Humansideroblastic anemia 1 onsetIAGP 11035243DNA:mutation:exon: 1236 G> A and p.C395Y (human)RGD 
ALAS2Humansideroblastic anemia 1  IAGP 11035244DNA:missense mutations:cds:p.R452H more ...RGD 
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1 to 20 of 45 rows
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Original Reference(s)
ALAS2Humanautistic disorder  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
ALAS2Humanautosomal hemophilia A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA AClinVarPMID:31690835
ALAS2HumanCornelia de Lange syndrome 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndromeClinVarPMID:26386245 more ...
ALAS2Humandevelopmental and epileptic encephalopathy 36  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital disorder of glycosylation and type IsClinVarPMID:21653323 more ...
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Erythropoietic Protoporphyria and X-Linked DominantClinVarPMID:25741868
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA and X-LINKEDClinVarPMID:23263862
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Erythropoietic Protoporphyria and X-Linked DominantClinVarPMID:21653323 more ...
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Erythropoietic Protoporphyria and X-Linked DominantClinVarPMID:18760763 and PMID:23409301
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Erythropoietic Protoporphyria and X-Linked DominantClinVar 
ALAS2Humanfactor VIII deficiency  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Factor 8 deficiency and congenitalClinVarPMID:31690835
ALAS2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
ALAS2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
ALAS2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
ALAS2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Anemia more ...ClinVarPMID:23263862 more ...
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Anemia more ...ClinVarPMID:20848343 more ...
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVar 
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemiaClinVarPMID:12663458 more ...
ALAS2Humansideroblastic anemia 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Anemia more ...ClinVarPMID:25741868 more ...
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Original Reference(s)
ALAS2HumanExperimental Liver Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11420682
ALAS2Humansideroblastic anemia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:16716198 and PMID:16892088
ALAS2Humansideroblastic anemia 1  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18637800
Object Symbol
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Original Reference(s)
ALAS2HumanErythropoietic Protoporphyria, X-Linked Dominant  IAGP 7240710 OMIM 
ALAS2Humansideroblastic anemia 1  IAGP 7240710 OMIM 

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Original Reference(s)
ALAS2Human(1->4)-beta-D-glucan multiple interactionsISOAlas2 (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of ALAS2 mRNACTDPMID:36331819
ALAS2Human1,2-dichloroethane decreases expressionISOAlas2 (Mus musculus)6480464ethylene dichloride results in decreased expression of ALAS2 mRNACTDPMID:28189721 and PMID:28960355
ALAS2Human17alpha-ethynylestradiol multiple interactionsISOAlas2 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ALAS2 mRNACTDPMID:17942748
ALAS2Human17beta-estradiol increases expressionISOAlas2 (Mus musculus)6480464Estradiol results in increased expression of ALAS2 mRNACTDPMID:16684588
ALAS2Human17beta-estradiol decreases expressionISOAlas2 (Mus musculus)6480464Estradiol results in decreased expression of ALAS2 mRNACTDPMID:39298647
ALAS2Human17beta-estradiol increases expressionISOAlas2 (Rattus norvegicus)6480464Estradiol results in increased expression of ALAS2 mRNACTDPMID:32145629
ALAS2Human2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOAlas2 (Mus musculus)64804642 more ...CTDPMID:32352317
ALAS2Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOAlas2 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of ALAS2 mRNACTDPMID:16054898 and PMID:16466705
ALAS2Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOAlas2 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of ALAS2 mRNACTDPMID:28213091 and PMID:29673856
ALAS2Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOAlas2 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of ALAS2 mRNACTDPMID:28922406
ALAS2Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOAlas2 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of ALAS2 mRNACTDPMID:21215274
ALAS2Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOAlas2 (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ALAS2 mRNACTDPMID:17942748
ALAS2Human2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionISOAlas2 (Mus musculus)64804642 more ...CTDPMID:38648751
ALAS2Human2,6-dinitrotoluene affects expressionISOAlas2 (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of ALAS2 mRNACTDPMID:21346803
ALAS2Human3,3',4,4',5-pentachlorobiphenyl decreases expressionISOAlas2 (Rattus norvegicus)64804643 more ...CTDPMID:20959002
ALAS2Human3,3',4,4',5-pentachlorobiphenyl decreases expressionISOAlas2 (Mus musculus)64804643 more ...CTDPMID:38619879
ALAS2Human3H-1,2-dithiole-3-thione decreases expressionISOAlas2 (Rattus norvegicus)64804641 and 2-dithiol-3-thione results in decreased expression of ALAS2 mRNACTDPMID:19162173
ALAS2Human3H-1,2-dithiole-3-thione decreases expressionISOAlas2 (Mus musculus)64804641 and 2-dithiol-3-thione results in decreased expression of ALAS2 mRNACTDPMID:15302862
ALAS2Human4,4'-sulfonyldiphenol increases expressionISOAlas2 (Mus musculus)6480464bisphenol S results in increased expression of ALAS2 mRNACTDPMID:30951980
ALAS2Human4,4'-sulfonyldiphenol decreases expressionISOAlas2 (Mus musculus)6480464bisphenol S results in decreased expression of ALAS2 mRNACTDPMID:39298647

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Biological Process
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Original Reference(s)
ALAS2Humanbiosynthetic process involved_inIEAInterPro:IPR004839150520179 InterProGO_REF:0000002
ALAS2Humanerythrocyte development involved_inIBAPANTHER:PTN000343740 and ZFIN:ZDB-GENE-001229-1150520179 GO_CentralGO_REF:0000033
ALAS2Humanerythrocyte differentiation involved_inNAS 150520179 PMID:2050125UniProtPMID:2050125
ALAS2Humanerythrocyte differentiation involved_inISSUniProtKB:P08680150520179 UniProtGO_REF:0000024
ALAS2Humanerythrocyte differentiation involved_inIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanheme B biosynthetic process involved_inIDA 150520179 PMID:2050125UniProtPMID:2050125
ALAS2Humanheme biosynthetic process involved_inIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanheme biosynthetic process involved_inIBACGD:CAL0000189686 more ...150520179 GO_CentralGO_REF:0000033
ALAS2Humanheme biosynthetic process involved_inNAS 150520179 PMID:14643893UniProtPMID:14643893
ALAS2Humanheme biosynthetic process involved_inISSUniProtKB:P08680150520179 UniProtGO_REF:0000024
ALAS2Humanheme biosynthetic process involved_inIEAUniProtKB-KW:KW-0350150520179 UniProtGO_REF:0000043
ALAS2Humanhemoglobin biosynthetic process involved_inISSUniProtKB:P08680150520179 UniProtGO_REF:0000024
ALAS2Humanhemoglobin biosynthetic process involved_inIBAMGI:87990 more ...150520179 GO_CentralGO_REF:0000033
ALAS2Humanhemoglobin biosynthetic process involved_inIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanintracellular iron ion homeostasis involved_inISSUniProtKB:P08680150520179 UniProtGO_REF:0000024
ALAS2Humanintracellular iron ion homeostasis acts_upstream_of_or_withinIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanintracellular oxygen homeostasis involved_inNAS 150520179 PMID:16234850UniProtPMID:16234850
ALAS2Humanlactation  ISOAlas2 (Rattus norvegicus)9068941 RGDPMID:18255020 and REF_RGD_ID:4144779
ALAS2Humanliver regeneration  ISOAlas2 (Rattus norvegicus)9068941 RGDPMID:6895999 and REF_RGD_ID:11035238
ALAS2Humanmaternal process involved in female pregnancy  ISOAlas2 (Rattus norvegicus)9068941 RGDPMID:18255020 and REF_RGD_ID:4144779
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Cellular Component
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Original Reference(s)
ALAS2Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
ALAS2Humanmitochondrial inner membrane located_inIEAUniProtKB-SubCell:SL-0168150520179 UniProtGO_REF:0000044
ALAS2Humanmitochondrial inner membrane located_inIDA 150520179 PMID:14643893UniProtPMID:14643893
ALAS2Humanmitochondrial inner membrane located_inIEAUniProtKB-KW:KW-0999150520179 UniProtGO_REF:0000043
ALAS2Humanmitochondrial matrix located_inTAS 150520179 ReactomeReactome:R-HSA-189442
ALAS2Humanmitochondrial matrix located_inIEAInterPro:IPR015118150520179 InterProGO_REF:0000002
ALAS2Humanmitochondrion located_inIEAUniProtKB-KW:KW-0496150520179 UniProtGO_REF:0000043
ALAS2Humanmitochondrion is_active_inIBAMGI:87989 more ...150520179 GO_CentralGO_REF:0000033
ALAS2Humanmitochondrion located_inHTP 150520179 PMID:34800366FlyBasePMID:34800366
ALAS2Humanmitochondrion located_inIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanmitochondrion located_inIDA 150520179 PMID:10727444 and PMID:14643893UniProtPMID:10727444 and PMID:14643893
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Molecular Function
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Original Reference(s)
ALAS2Human5-aminolevulinate synthase activity  ISOAlas2 (Rattus norvegicus)9068941 RGDPMID:15181459 more ...
ALAS2Human5-aminolevulinate synthase activity enablesIEAARBA:ARBA00034153150520179 UniProtGO_REF:0000117
ALAS2Human5-aminolevulinate synthase activity enablesIBACGD:CAL0000189686 more ...150520179 GO_CentralGO_REF:0000033
ALAS2Human5-aminolevulinate synthase activity enablesIMP 150520179 PMID:21252495 more ...UniProtPMID:21252495 more ...
ALAS2Human5-aminolevulinate synthase activity enablesIDA 150520179 PMID:14643893 and PMID:32499479UniProtPMID:14643893 and PMID:32499479
ALAS2Human5-aminolevulinate synthase activity enablesIEARHEA:12921150520179 RHEAGO_REF:0000116
ALAS2Human5-aminolevulinate synthase activity enablesIEAEC:2.3.1.37150520179 UniProtGO_REF:0000003
ALAS2Human5-aminolevulinate synthase activity enablesIEAInterPro:IPR010961 and InterPro:IPR015118150520179 InterProGO_REF:0000002
ALAS2Human5-aminolevulinate synthase activity enablesIEAUniProtKB:P08680 and ensembl:ENSMUSP00000066040150520179 EnsemblGO_REF:0000107
ALAS2Humanacyltransferase activity enablesIEAUniProtKB-KW:KW-0012150520179 UniProtGO_REF:0000043
ALAS2Humancoenzyme A binding  ISOAlas2 (Rattus norvegicus)9068941 RGDPMID:8407861 and REF_RGD_ID:632181
ALAS2Humanprotein binding enablesIPIUniProtKB:Q8N9N5150520179 PMID:25416956IntActPMID:25416956
ALAS2Humanprotein binding enablesIPIUniProtKB:Q8N9N5-2150520179 PMID:25910212 and PMID:32296183IntActPMID:25910212 and PMID:32296183
ALAS2Humanprotein binding enablesIPIUniProtKB:Q9P2R7150520179 PMID:10727444 and PMID:14643893UniProtPMID:10727444 and PMID:14643893
ALAS2Humanprotein binding enablesIPIUniProtKB:P40337150520179 PMID:16234850UniProtPMID:16234850
ALAS2Humanpyridoxal phosphate binding enablesIEAInterPro:IPR004839 more ...150520179 InterProGO_REF:0000002
ALAS2Humantransferase activity enablesIEAInterPro:IPR001917150520179 InterProGO_REF:0000002
ALAS2Humantransferase activity enablesIEAUniProtKB-KW:KW-0808150520179 UniProtGO_REF:0000043
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RGD Manual Annotations


  
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Original Reference(s)
ALAS2Humanheme biosynthetic pathway   TAS 4144542 RGD 
ALAS2Humanheme biosynthetic pathway   TAS 11554188 RGD 
ALAS2Humanheme biosynthetic pathway   IEA 1578396 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
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Original Reference(s)
ALAS2Humanglycine, serine and threonine metabolic pathway  IEA 6907045 KEGGhsa:00260
ALAS2Humanporphyrin and chlorophyll metabolic pathway  IEA 6907045 KEGGhsa:00860
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Original Reference(s)
ALAS2HumanAnemia  IAGP 11035244DNA:missense mutations:cds:p.R452H more ...RGD 
ALAS2HumanDecreased mean corpuscular volume  IAGP 11035244DNA:missense mutations:cds:p.R452H more ...RGD 
ALAS2HumanIncreased circulating ferritin concentration  IAGP 11035244DNA:missense mutations:cds:p.R452H more ...RGD 
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ALAS2HumanAbnormality of iron homeostasis  IAGP 8699517 HPOORPHA:75563
ALAS2HumanAnemia  IAGP 8699517 HPOORPHA:75563
ALAS2HumanAnemia of inadequate production  IAGP 8699517 HPOMIM:300751
ALAS2HumanAnemic pallor  IAGP 8699517 HPOMIM:300751
ALAS2HumanAsthenia  IAGP 8699517 HPOMIM:300751
ALAS2HumanChildhood onset  IAGP 8699517 HPOMIM:300751
ALAS2HumanChildhood onset  IAGP 8699517 HPOMIM:300752
ALAS2HumanCholelithiasis  IAGP 8699517 HPOMIM:300752
ALAS2HumanCutaneous photosensitivity  IAGP 8699517 HPOMIM:300752
ALAS2HumanDyspnea  IAGP 8699517 HPOORPHA:75563
ALAS2HumanElevated circulating hepatic transaminase concentration  IAGP 8699517 HPOMIM:300752
ALAS2HumanElevated circulating hepatic transaminase concentration  IAGP 8699517 HPOORPHA:75563
ALAS2HumanFatigue  IAGP 8699517 HPOORPHA:75563
ALAS2HumanGlucose intolerance  IAGP 8699517 HPOORPHA:75563
ALAS2HumanHyperpigmentation of the skin  IAGP 8699517 HPOORPHA:75563
ALAS2HumanHypochromic microcytic anemia  IAGP 8699517 HPOMIM:300751
ALAS2HumanIncreased erythrocyte protoporphyrin concentration  IAGP 8699517 HPOMIM:300752
ALAS2HumanIron deficiency anemia  IAGP 8699517 HPOMIM:300752
ALAS2HumanMacrocytic anemia  IAGP 8699517 HPOMIM:300751
ALAS2HumanMuscle weakness  IAGP 8699517 HPOORPHA:75563
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Original Reference(s)
ALAS2HumanAutism  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311

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#
Reference Title
Reference Citation
1. Biosynthesis of heme in mammals. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
3. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Cazzola M, etal., Blood. 2000 Dec 15;96(13):4363-5.
4. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Cotter PD, etal., Blood. 1994 Dec 1;84(11):3915-24.
5. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. Cotter PD, etal., J Clin Invest. 1995 Oct;96(4):2090-6.
6. Nature of heme metabolizing enzymes in a mutant rat with hyperbilirubinuria. Dhar SK, etal., Res Commun Chem Pathol Pharmacol. 1993 Jun;80(3):329-36.
7. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). Ducamp S, etal., Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20.
8. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
11. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. Kucerova J, etal., Acta Haematol. 2011;125(4):193-7. doi: 10.1159/000322870. Epub 2011 Jan 20.
12. Circadian rhythms in acute intermittent porphyria--a pilot study. Larion S, etal., Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.
13. 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. Lee PL, etal., Blood Cells Mol Dis. 2006 Mar-Apr;36(2):292-7. Epub 2006 Jan 30.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. A Toxicogenomic Approach Revealed Hepatic Gene Expression Changes Mechanistically Linked to Drug-Induced Hemolytic Anemia. Rokushima M, etal., Toxicol Sci. 2006 Nov 2;.
20. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. To-Figueras J, etal., Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.
1 to 20 of 22 rows
PMID:546546   PMID:1570328   PMID:1577484   PMID:1939222   PMID:2050125   PMID:2263504   PMID:2347585   PMID:8107717   PMID:8889548   PMID:9642238   PMID:9858242   PMID:10029606  
PMID:10577279   PMID:10727444   PMID:12031592   PMID:12393718   PMID:12477932   PMID:12663458   PMID:14643893   PMID:15166166   PMID:15342556   PMID:15772651   PMID:16121195   PMID:16234850  
PMID:18555711   PMID:18569569   PMID:18624398   PMID:19066423   PMID:19187226   PMID:19731322   PMID:20850938   PMID:21207956   PMID:21309041   PMID:21800356   PMID:21873635   PMID:22269113  
PMID:22740690   PMID:23223129   PMID:23348515   PMID:23364466   PMID:23409301   PMID:23935018   PMID:24166784   PMID:24829177   PMID:25179834   PMID:25416956   PMID:25705881   PMID:25910212  
PMID:26300302   PMID:27751851   PMID:28123038   PMID:28667034   PMID:28731922   PMID:28772256   PMID:29958424   PMID:30678654   PMID:31076252   PMID:31848684   PMID:32296183   PMID:32297424  
PMID:32499479   PMID:33067979   PMID:33596641   PMID:33637726   PMID:34411431   PMID:34490613   PMID:34800366   PMID:35575683   PMID:35637209   PMID:39202434  



ALAS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X55,009,055 - 55,030,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)EnsemblGRCh38hg38GRCh38
GRCh37X55,035,488 - 55,057,410 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,052,213 - 55,074,136 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X54,918,512 - 54,940,432NCBI
CeleraX58,870,631 - 58,892,640 (-)NCBICelera
Cytogenetic MapXp11.21NCBI
HuRefX52,086,432 - 52,108,437 (-)NCBIHuRef
CHM1_1X55,025,527 - 55,047,534 (-)NCBICHM1_1
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBIT2T-CHM13v2.0
Alas2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,330,443 - 149,353,614 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX149,330,371 - 149,353,634 (+)EnsemblGRCm39 Ensembl
GRCm38X150,547,417 - 150,570,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,547,375 - 150,570,638 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X146,981,960 - 147,005,165 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X145,888,161 - 145,911,335 (+)NCBIMGSCv36mm8
CeleraX133,836,224 - 133,858,249 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Alas2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X22,890,650 - 22,914,046 (+)NCBIGRCr8
mRatBN7.2X19,463,146 - 19,486,526 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX19,463,171 - 19,486,519 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX16,897,530 - 16,916,114 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X23,208,808 - 23,227,392 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X19,981,156 - 19,999,751 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X23,167,576 - 23,187,356 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX23,167,696 - 23,187,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X23,587,683 - 23,605,753 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.1X39,853,992 - 39,864,053 (+)NCBI
CeleraX19,742,070 - 19,760,615 (+)NCBICelera
Cytogenetic MapXq12NCBI
Alas2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,362,118 - 2,377,864 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,362,368 - 2,382,680 (-)NCBIChiLan1.0ChiLan1.0
ALAS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X56,405,015 - 56,427,183 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X56,408,788 - 56,430,790 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X47,219,588 - 47,241,592 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X55,451,669 - 55,468,601 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,451,794 - 55,473,680 (-)Ensemblpanpan1.1panPan2
ALAS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,703,477 - 46,731,767 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,703,477 - 46,723,529 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX38,039,113 - 38,065,286 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X46,992,131 - 47,018,312 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX46,992,147 - 47,018,260 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X46,501,907 - 46,528,079 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X46,968,475 - 46,994,644 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X46,910,743 - 46,936,916 (-)NCBIUU_Cfam_GSD_1.0
Alas2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,478,526 - 39,501,336 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367511,814,446 - 1,841,531 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367511,818,255 - 1,841,028 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALAS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,871,523 - 47,896,000 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X47,871,519 - 47,896,041 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,807,663 - 53,832,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALAS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,086,062 - 51,108,564 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX51,086,066 - 51,103,505 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660865,064,507 - 5,087,016 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Alas2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624910426,032 - 448,325 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624910426,273 - 726,778 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in ALAS2
268 total Variants

1 to 10 of 466 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) single nucleotide variant Developmental and epileptic encephalopathy, 36 [RCV004698465]|X-linked erythropoietic protoporphyria [RCV000033870]|X-linked sideroblastic anemia 1 [RCV000990842]|not provided [RCV000199418] ChrX:55009187 [GRCh38]
ChrX:55035620 [GRCh37]
ChrX:Xp11.21		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011214] ChrX:55014757 [GRCh38]
ChrX:55041190 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011215] ChrX:55015583 [GRCh38]
ChrX:55042016 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011216]|not provided [RCV001857329] ChrX:55021195 [GRCh38]
ChrX:55047628 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011217] ChrX:55017618 [GRCh38]
ChrX:55044051 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln) single nucleotide variant Sideroblastic anemia 1, late-onset [RCV000011218] ChrX:55017594 [GRCh38]
ChrX:55044027 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) single nucleotide variant Sideroblastic anemia 1, late-onset [RCV000011219]|X-linked sideroblastic anemia 1 [RCV001729346] ChrX:55021176 [GRCh38]
ChrX:55047609 [GRCh37]
ChrX:Xp11.21		 pathogenic|likely pathogenic
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) single nucleotide variant X-linked sideroblastic anemia 1 [RCV003322588] ChrX:55021121 [GRCh38]
ChrX:55047554 [GRCh37]
ChrX:Xp11.21		 pathogenic
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) single nucleotide variant X-linked sideroblastic anemia 1 [RCV000011221]|not provided [RCV003555997] ChrX:55014953 [GRCh38]
ChrX:55041386 [GRCh37]
ChrX:Xp11.21		 pathogenic
1 to 10 of 466 rows

Predicted Target Of
Summary Value
Count of predictions:1827
Count of miRNA genes:752
Interacting mature miRNAs:845
Transcripts:ENST00000330807, ENST00000335854, ENST00000396198, ENST00000455688, ENST00000463868, ENST00000477869, ENST00000493869, ENST00000498636
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597085846GWAS1181920_Hmean corpuscular hemoglobin QTL GWAS1181920 (human)6e-42mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)X5501775555017756Human
597085847GWAS1181921_Hmean corpuscular hemoglobin QTL GWAS1181921 (human)4e-20mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)X5502130855021309Human
407079377GWAS728353_Hobsolete_red blood cell distribution width QTL GWAS728353 (human)3e-21obsolete_red blood cell distribution widthX5501775555017756Human
597113237GWAS1209311_HRed cell distribution width QTL GWAS1209311 (human)3e-21Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)X5501775555017756Human
597276687GWAS1372761_Hinsomnia QTL GWAS1372761 (human)5e-08insomniaX5500962855009629Human
596977694GWAS1097213_HRed cell distribution width QTL GWAS1097213 (human)3e-21Red cell distribution widthX5501775555017756Human
597113531GWAS1209605_Herythrocyte count QTL GWAS1209605 (human)4e-13erythrocyte countred blood cell count (CMO:0000025)X5501775555017756Human
597089451GWAS1185525_Hmean corpuscular hemoglobin concentration QTL GWAS1185525 (human)1e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)X5501775555017756Human

WI-16860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,997UniSTSGRCh37
Build 36X55,057,575 - 55,057,722RGDNCBI36
CeleraX58,875,993 - 58,876,140RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,091,794 - 52,091,941UniSTS
GeneMap99-GB4 RH MapX177.85UniSTS
Whitehead-RH MapX100.7UniSTS
A009V31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,959UniSTSGRCh37
Build 36X55,057,575 - 55,057,684RGDNCBI36
CeleraX58,875,993 - 58,876,102RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,091,794 - 52,091,903UniSTS
GeneMap99-GB4 RH MapX177.85UniSTS
RH94266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,035,337 - 55,035,486UniSTSGRCh37
Build 36X55,052,062 - 55,052,211RGDNCBI36
CeleraX58,870,480 - 58,870,629RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,086,281 - 52,086,430UniSTS
GeneMap99-GB4 RH MapX171.47UniSTS
AL023933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,056,053 - 55,056,181UniSTSGRCh37
Build 36X55,072,778 - 55,072,906RGDNCBI36
CeleraX58,891,196 - 58,891,324RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,106,993 - 52,107,121UniSTS
WI-12678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,035,512 - 55,035,661UniSTSGRCh37
Build 36X55,052,237 - 55,052,386RGDNCBI36
CeleraX58,870,655 - 58,870,804RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,086,456 - 52,086,605UniSTS
GeneMap99-GB4 RH MapX178.47UniSTS
Whitehead-RH MapX102.9UniSTS
RH16577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,047,552 - 55,047,680UniSTSGRCh37
Build 36X55,064,277 - 55,064,405RGDNCBI36
CeleraX58,882,695 - 58,882,823RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,098,492 - 52,098,620UniSTS
GeneMap99-GB4 RH MapX177.39UniSTS
GDB:193183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,042,333 - 55,042,497UniSTSGRCh37
Build 36X55,059,058 - 55,059,222RGDNCBI36
CeleraX58,877,476 - 58,877,640RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,093,277 - 52,093,437UniSTS
SGC33540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,047,443 - 55,047,571UniSTSGRCh37
Build 36X55,064,168 - 55,064,296RGDNCBI36
CeleraX58,882,586 - 58,882,714RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,098,383 - 52,098,511UniSTS
GeneMap99-GB4 RH MapX171.88UniSTS
Whitehead-RH MapX97.5UniSTS
ALAS2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,041,492 - 55,041,683UniSTSGRCh37
Build 36X55,058,217 - 55,058,408RGDNCBI36
CeleraX58,876,635 - 58,876,826RGD
HuRefX52,092,436 - 52,092,627UniSTS
G32884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,040,850 - 55,040,958UniSTSGRCh37
CeleraX58,875,993 - 58,876,101UniSTS
Cytogenetic MapXp11.21UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1180 2158 2605 2137 4679 1584 2074 5 542 1651 400 2121 6525 5936 12 3563 764 1599 1424 150 1


1 to 30 of 63 rows
RefSeq Transcripts NG_008983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA778169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY532087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 63 rows

Ensembl Acc Id: ENST00000335854   ⟹   ENSP00000337131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,089 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000396198   ⟹   ENSP00000379501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000455688   ⟹   ENSP00000407204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,020,334 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000463868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,560 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000477869   ⟹   ENSP00000496725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,650 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000493869   ⟹   ENSP00000495713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,017,615 - 55,030,976 (-)Ensembl
Ensembl Acc Id: ENST00000498636   ⟹   ENSP00000495662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,113 - 55,020,433 (-)Ensembl
Ensembl Acc Id: ENST00000644983   ⟹   ENSP00000495814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,021,266 - 55,030,977 (-)Ensembl
Ensembl Acc Id: ENST00000650242   ⟹   ENSP00000497236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX55,009,055 - 55,030,977 (-)Ensembl
RefSeq Acc Id: NM_000032   ⟹   NP_000023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001037967   ⟹   NP_001033056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001037968   ⟹   NP_001033057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,009,055 - 55,030,977 (-)NCBI
GRCh37X55,035,488 - 55,057,497 (-)ENTREZGENE
Build 36X55,052,213 - 55,074,136 (-)NCBI Archive
HuRefX52,086,432 - 52,108,437 (-)ENTREZGENE
CHM1_1X55,025,527 - 55,047,534 (-)NCBI
T2T-CHM13v2.0X54,302,181 - 54,324,103 (-)NCBI
Sequence:
1 to 30 of 62 rows
Protein RefSeqs NP_000023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001033056 (Get FASTA)   NCBI Sequence Viewer  
  NP_001033057 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39838 (Get FASTA)   NCBI Sequence Viewer  
  AAH30230 (Get FASTA)   NCBI Sequence Viewer  
  AAO37821 (Get FASTA)   NCBI Sequence Viewer  
  AAT09371 (Get FASTA)   NCBI Sequence Viewer  
  AAT09372 (Get FASTA)   NCBI Sequence Viewer  
  AAT09373 (Get FASTA)   NCBI Sequence Viewer  
  AAT09374 (Get FASTA)   NCBI Sequence Viewer  
  AAT09375 (Get FASTA)   NCBI Sequence Viewer  
  AAT09376 (Get FASTA)   NCBI Sequence Viewer  
  AAT09377 (Get FASTA)   NCBI Sequence Viewer  
  AAT09378 (Get FASTA)   NCBI Sequence Viewer  
  AAT09379 (Get FASTA)   NCBI Sequence Viewer  
  AAT09380 (Get FASTA)   NCBI Sequence Viewer  
  AAT09381 (Get FASTA)   NCBI Sequence Viewer  
  AAT09382 (Get FASTA)   NCBI Sequence Viewer  
  AAT09383 (Get FASTA)   NCBI Sequence Viewer  
  AAT09384 (Get FASTA)   NCBI Sequence Viewer  
  AAT09385 (Get FASTA)   NCBI Sequence Viewer  
  AAT09386 (Get FASTA)   NCBI Sequence Viewer  
  AAT09387 (Get FASTA)   NCBI Sequence Viewer  
  AAT09388 (Get FASTA)   NCBI Sequence Viewer  
  AAT09389 (Get FASTA)   NCBI Sequence Viewer  
  AAT09390 (Get FASTA)   NCBI Sequence Viewer  
  AAT09391 (Get FASTA)   NCBI Sequence Viewer  
  AAT09392 (Get FASTA)   NCBI Sequence Viewer  
  AAT09393 (Get FASTA)   NCBI Sequence Viewer  
  AAT09394 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 62 rows
1 to 5 of 11 rows
1 to 5 of 11 rows
RefSeq Acc Id: NP_001033056   ⟸   NM_001037967
- Peptide Label: isoform b precursor
- UniProtKB: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000023   ⟸   NM_000032
- Peptide Label: isoform a precursor
- UniProtKB: Q5JZF5 (UniProtKB/Swiss-Prot),   Q13735 (UniProtKB/Swiss-Prot),   A8K6C4 (UniProtKB/Swiss-Prot),   A8K3F0 (UniProtKB/Swiss-Prot),   Q8N6H3 (UniProtKB/Swiss-Prot),   P22557 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001033057   ⟸   NM_001037968
- Peptide Label: isoform c precursor
- UniProtKB: P22557 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000496725   ⟸   ENST00000477869
Ensembl Acc Id: ENSP00000337131   ⟸   ENST00000335854
5-aminolevulinate synthase presequence   Aminotransferase class I/classII large

Name Modeler Protein Id AA Range Protein Structure
AF-P22557-F1-model_v2 AlphaFold P22557 1-587 view protein structure

RGD ID:13605428
Promoter ID:EPDNEW_H28898
Type:multiple initiation site
Name:ALAS2_1
Description:5'-aminolevulinate synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,030,977 - 55,031,037EPDNEW
RGD ID:6808476
Promoter ID:HG_KWN:66984
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000056839,   OTTHUMT00000056840,   OTTHUMT00000056841,   OTTHUMT00000056842,   UC004DUA.2,   UC004DUB.2,   UC004DUC.2,   UC004DUD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,073,841 - 55,074,341 (-)MPROMDB


1 to 40 of 50 rows
Database
Acc Id
Source(s)
COSMIC ALAS2 COSMIC
Ensembl Genes ENSG00000158578 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335854 ENTREZGENE
  ENST00000335854.8 UniProtKB/Swiss-Prot
  ENST00000396198 ENTREZGENE
  ENST00000396198.7 UniProtKB/Swiss-Prot
  ENST00000650242 ENTREZGENE
  ENST00000650242.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot
  3.90.1150.10 UniProtKB/Swiss-Prot
  Aminolevulinic Acid Synthase 2 UniProtKB/Swiss-Prot
GTEx ENSG00000158578 GTEx
HGNC ID HGNC:397 ENTREZGENE
Human Proteome Map ALAS2 Human Proteome Map
InterPro 4pyrrol_synth_NH2levulA_synth UniProtKB/Swiss-Prot
  5aminolev_synth_preseq UniProtKB/Swiss-Prot
  Aminotrans_II_pyridoxalP_BS UniProtKB/Swiss-Prot
  Aminotransferase_I/II UniProtKB/Swiss-Prot
  AON_synthase_class-II UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot
KEGG Report hsa:212 UniProtKB/Swiss-Prot
NCBI Gene 212 ENTREZGENE
OMIM 301300 OMIM
PANTHER 5-AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC, MITOCHONDRIAL UniProtKB/Swiss-Prot
  CLASS II AMINOTRANSFERASE/8-AMINO-7-OXONONANOATE SYNTHASE UniProtKB/Swiss-Prot
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot
  Preseq_ALAS UniProtKB/Swiss-Prot
PharmGKB PA24689 PharmGKB
PROSITE AA_TRANSFER_CLASS_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot
UniProt A0A2R8Y6N3_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6R4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y782_HUMAN UniProtKB/TrEMBL
  A0A2R8Y836_HUMAN UniProtKB/TrEMBL
  A8K3F0 ENTREZGENE
  A8K6C4 ENTREZGENE
  H0Y6R3_HUMAN UniProtKB/TrEMBL
  HEM0_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
1 to 40 of 50 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-11-26 ALAS2  5'-aminolevulinate synthase 2  ALAS2  aminolevulinate, delta-, synthase 2  Symbol and/or name change 5135510 APPROVED