Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
122961
Gene name Gene Name - the full gene name approved by the HGNC.
Iron-sulfur cluster assembly 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ISCA2
Synonyms (NCBI Gene) Gene synonyms aliases
HBLD1, ISA2, MMDS4, c14_5557
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615317 19857 ENSG00000165898
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple Mitochondrial Dysfunctions Syndrome multiple mitochondrial dysfunctions syndrome 4 rs730882246 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease 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