ALAS2
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Homo sapiens |
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ALAS2 is differentially expressed in 158 experiments: 37 organism parts: bone marrow, liver, ... (35 more);, 109 disease states: normal, lung adenocarcinoma, ... (107 more);, 54 cell types 67 cell lines 13 compound treatments and 58 other conditions. |
| Synonyms |
ASB |
| Orthologs |
HEM1
(Saccharomyces cerevisiae)
alas2
(Danio rerio)
Alas2
(Mus musculus)
HEM0_BOVIN
(Bos taurus)
Alas
(Drosophila melanogaster)
alas2
(Xenopus laevis)
Q28255_CANFA
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology ID |
GO:0008152, GO:0003870, GO:0016746, GO:0016769, GO:0005515, GO:0005739, GO:0005759, GO:0005743, GO:0006879, GO:0006783, GO:0050662, GO:0006520, GO:0001666, GO:0030170, GO:0009058, GO:0033014, GO:0016594, GO:0042541, GO:0006778, GO:0030218, GO:0032364 |
| InterPro ID |
IPR000192, IPR010961, IPR000277, IPR004839, IPR015118 |
| Gene Ontology Term |
tetrapyrrole biosynthetic process, protein binding, cellular amino acid metabolic process, mitochondrial inner membrane, transferase activity, transferring nitrogenous groups, pyridoxal phosphate binding, metabolic process, mitochondrial matrix, response to hypoxia, 5-aminolevulinate synthase activity, coenzyme binding, biosynthetic process, heme biosynthetic process, cellular iron ion homeostasis, mitochondrion, transferase activity, transferring acyl groups, erythrocyte differentiation, hemoglobin biosynthetic process, oxygen homeostasis, glycine binding, porphyrin-containing compound metabolic process |
| InterPro Term |
4pyrrol_synth_NH2levulA_synth, Aminotrans_V/Cys_dSase, Aminotransferase_I/II, Cys/Met-Metab_PyrdxlP-dep_enz, 5aminolev_synth_preseq |
| Ensembl Family |
ENSFM00250000001038 |
| Ensembl Family Description |
5 AMINOLEVULINATE SYNTHASE MITOCHONDRIAL PRECURSOR EC_2.3.1.37 5 AMINOLEVULINIC ACID SYNTHASE DELTA ALA SYNTHASE DELTA AMINOLEVULINATE SYNTHASE |
| EMBL-Bank ID |
AK313118, AK291589, X60364, AY532102, AY532101, AY532100, AY532106, AY532105, AY532104, AY532103, AY532107, AY532108, AY532109, AY532082, AY532081, AY532084, AY532083, AY532087, AY532086, AY532085, AY532089, AY532088, AY532080, AY532078, AY532079, AY532072, AY532071, AY532070, AY532077, AY532076, AY532075, AY532074, AY532073, AY532099, AY532097, AY532098, AY532096, AY532095, AY532094, AY532093, AY532092, AY532091, AY532069, X56352, AL020991, AK290565, AF068624, CH471154, Z83821, AF130113 |
| UniProt Accession |
Q5JZF5, Q9H366, B7ZB88, P22557, Q6QNT2, A8K6C4, A8K3F0 |
| Ensembl Protein ID |
ENSP00000407204, ENSP00000337131, ENSP00000379501, ENSP00000332369 |
| Description |
aminolevulinate, delta-, synthase 2 [Source:HGNC Symbol;Acc:397] |
| HGNC Symbol |
ALAS2 |
| Ensembl Gene ID |
ENSG00000158578 |
| RefSeq ID |
NM_001037967, NM_001037968, NP_001033056, NP_001033057, NP_000023, NM_000032 |
| UniGene ID |
Hs.522666 |
| Entrez Gene ID |
212 |
| Ensembl Transcript ID |
ENST00000493869, ENST00000396198, ENST00000463868, ENST00000335854, ENST00000477869, ENST00000498636, ENST00000330807, ENST00000455688 |
| Gene-Disease Assocation |
ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP |
| Design Element |
211560_s_at, g11493529_3p_s_at, ENST00000455688, ENST00000330807, ENST00000493869, ENST00000335854, ENST00000396198, ENST00000463868, Z83821_cds2_at, ENST00000477869, ENST00000498636, 37285_at |
| Search EB-eye |
ENSG00000158578
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