ENSG00000165898


Homo sapiens

Features
Gene ID: ENSG00000165898
  
Biological name :ISCA2
  
Synonyms : iron-sulfur cluster assembly 2 / ISCA2 / Q86U28
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q24.3
Gene start: 74493720
Gene end: 74497106
  
Corresponding Affymetrix probe sets: 226007_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450523
Ensembl peptide - ENSP00000298818
Ensembl peptide - ENSP00000452007
NCBI entrez gene - 122961     See in Manteia.
OMIM - 615317
RefSeq - NM_194279
RefSeq - NM_001272007
RefSeq Peptide - NP_001258936
RefSeq Peptide - NP_919255
swissprot - Q86U28
swissprot - J3QSS7
Ensembl - ENSG00000165898
  
Related genetic diseases (OMIM): 616370 - Multiple mitochondrial dysfunctions syndrome 4, 616370
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 isca2ENSDARG00000038154Danio rerio
 ISCA2ENSGALG00000020417Gallus gallus
 Isca2ENSMUSG00000021241Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000361  FeS cluster biogenesis
 IPR016092  FeS cluster insertion protein
 IPR017870  FeS cluster insertion, C-terminal, conserved site
 IPR035903  HesB-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016226 iron-sulfur cluster assembly IBA
 biological_processGO:0044281 small molecule metabolic process TAS
 biological_processGO:0051604 protein maturation IBA
 biological_processGO:0097428 protein maturation by iron-sulfur cluster transfer IEA
 cellular_componentGO:0005739 mitochondrion IBA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005506 iron ion binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051537 2 iron, 2 sulfur cluster binding IBA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IBA


Pathways (from Reactome)
Pathway description
Mitochondrial iron-sulfur cluster biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001344 Absent speech development 
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 HP:0002415 Leukodystrophy 
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 HP:0002518 Periventricular white matter changes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000182512 GLRX5 / Q86SX6 / glutaredoxin 5  / reaction
 ENSG00000135070 ISCA1 / Q9BUE6 / iron-sulfur cluster assembly 1  / complex






 

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