Gene Gene information from NCBI Gene database.
Entrez ID 122961
Gene name Iron-sulfur cluster assembly 2
Gene symbol ISCA2
Synonyms (NCBI Gene)
HBLD1ISA2MMDS4c14_5557
Chromosome 14
Chromosome location 14q24.3
Summary The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms
miRNA miRNA information provided by mirtarbase database.
300
miRTarBase ID miRNA Experiments Reference
MIRT687877 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT687876 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT687875 hsa-miR-17-5p HITS-CLIP 23313552
MIRT687874 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT687873 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IBA
GO:0005515 Function Protein binding IPI 25347204, 25416956, 31831856, 32296183, 32814053, 33961781, 39408793
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615317 19857 ENSG00000165898
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86U28
Protein name Iron-sulfur cluster assembly 2 homolog, mitochondrial (HESB-like domain-containing protein 1)
Protein function Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01521 Fe-S_biosyn 49 148 Iron-sulphur cluster biosynthesis Family
Sequence
Sequence length 154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial iron-sulfur cluster biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Fatal multiple mitochondrial dysfunctions syndrome Likely pathogenic; Pathogenic rs730882246 RCV000310400
Multiple mitochondrial dysfunctions syndrome 4 Likely pathogenic; Pathogenic rs730882246, rs191915715 RCV000170534
RCV003331765
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ISCA2-related disorder Likely benign; Conflicting classifications of pathogenicity rs143682573, rs773465061, rs371830968 RCV004758222
RCV003911263
RCV003903382
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 29297947
Brain Stem Neoplasms Associate 29297947
Carcinoma Renal Cell Inhibit 36097192
Carcinoma Renal Cell Associate 36385109
Diabetes Mellitus Type 2 Associate 39280009
Hyperglycinemia Nonketotic Associate 29297947
Leukodystrophy Metachromatic Associate 29297947
Mitochondrial Complex II Deficiency Associate 29297947
Mitochondrial Diseases Associate 31279336, 39280009
Mitochondrial Diseases Inhibit 35714932