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Aliases for ISCA2 Gene

Aliases for ISCA2 Gene

  • Iron-Sulfur Cluster Assembly 2 2 3 5
  • HESB-Like Domain-Containing Protein 1 3 4
  • HBLD1 3 4
  • Iron-Sulfur Cluster Assembly 2 Homolog (S. Cerevisiae) 2
  • Iron-Sulfur Cluster Assembly 2 Homolog, Mitochondrial 3
  • HesB Like Domain Containing 1 2
  • C14_5557 3
  • MMDS4 3
  • ISA2 3

External Ids for ISCA2 Gene

Previous HGNC Symbols for ISCA2 Gene

  • HBLD1

Previous GeneCards Identifiers for ISCA2 Gene

  • GC14P074031
  • GC14P074960
  • GC14P055128

Summaries for ISCA2 Gene

Entrez Gene Summary for ISCA2 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 have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for ISCA2 Gene

ISCA2 (Iron-Sulfur Cluster Assembly 2) is a Protein Coding gene. Diseases associated with ISCA2 include Multiple Mitochondrial Dysfunctions Syndrome 4 and Multiple Mitochondrial Dysfunctions Syndrome. Gene Ontology (GO) annotations related to this gene include structural molecule activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for ISCA2 Gene

  • 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.

Additional gene information for ISCA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISCA2 Gene

Genomics for ISCA2 Gene

GeneHancer (GH) Regulatory Elements for ISCA2 Gene

Promoters and enhancers for ISCA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I074491 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 0.0 -26 3.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF143 FOS ISCA2 NPC2 ENSG00000259005 ENSG00000270000 ENSG00000258891 ZNF410 GC14P074483 GC14M074212
GH14I074513 Enhancer 1 FANTOM5 Ensembl ENCODE 6.9 +20.9 20889 1.6 FOXA2 RFX1 IKZF1 EBF1 RUNX3 FOXA1 GC14M074212 ISCA2 NPC2 ENSG00000258425 LTBP2
GH14I074509 Enhancer 0.6 Ensembl ENCODE 5.6 +17.3 17276 3.1 ZFHX2 FOS EGR2 SYNDIG1L ISCA2 GC14M074212 NPC2 LTBP2
GH14I074524 Enhancer 0.3 ENCODE 4.6 +31.1 31074 0.9 ZNF341 ISCA2 GC14M074212 ENSG00000258425 LTBP2
GH14I074488 Enhancer 0.7 Ensembl ENCODE 0.8 -4.7 -4655 1.5 JUND JUN CEBPB PRDM10 FOSL2 EP300 ENSG00000259005 SYNDIG1L LTBP2 NPC2 ISCA2 GC14P074483 GC14M074212
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISCA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISCA2 gene promoter:

Genomic Locations for ISCA2 Gene

Genomic Locations for ISCA2 Gene
chr14:74,493,720-74,497,106
(GRCh38/hg38)
Size:
3,387 bases
Orientation:
Plus strand
chr14:74,960,423-74,963,809
(GRCh37/hg19)

Genomic View for ISCA2 Gene

Genes around ISCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISCA2 Gene

Proteins for ISCA2 Gene

  • Protein details for ISCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86U28-ISCA2_HUMAN
    Recommended name:
    Iron-sulfur cluster assembly 2 homolog, mitochondrial
    Protein Accession:
    Q86U28
    Secondary Accessions:
    • A6NFF1
    • A8K3W3
    • G3V291
    • Q8IYZ0
    • Q96BB2

    Protein attributes for ISCA2 Gene

    Size:
    154 amino acids
    Molecular mass:
    16476 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD62580.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ISCA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISCA2 Gene

Post-translational modifications for ISCA2 Gene

No Post-translational modifications

Other Protein References for ISCA2 Gene

No data available for DME Specific Peptides for ISCA2 Gene

Domains & Families for ISCA2 Gene

Gene Families for ISCA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ISCA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86U28

UniProtKB/Swiss-Prot:

ISCA2_HUMAN :
  • Belongs to the HesB/IscA family.
Family:
  • Belongs to the HesB/IscA family.
genes like me logo Genes that share domains with ISCA2: view

Function for ISCA2 Gene

Molecular function for ISCA2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ISCA2 Gene

Gene Ontology (GO) - Molecular Function for ISCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005506 iron ion binding IBA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ISCA2: view

Phenotypes for ISCA2 Gene

genes like me logo Genes that share phenotypes with ISCA2: view

Human Phenotype Ontology for ISCA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ISCA2 Gene

miRTarBase miRNAs that target ISCA2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ISCA2 Gene

Localization for ISCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISCA2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISCA2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ISCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ISCA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISCA2 Gene

Pathways & Interactions for ISCA2 Gene

SuperPathways for ISCA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ISCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly IBA --
GO:0044281 small molecule metabolic process TAS --
GO:0051604 protein maturation IBA --
GO:0097428 protein maturation by iron-sulfur cluster transfer IEA --
genes like me logo Genes that share ontologies with ISCA2: view

No data available for Pathways by source and SIGNOR curated interactions for ISCA2 Gene

Drugs & Compounds for ISCA2 Gene

(1) Additional Compounds for ISCA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with ISCA2: view

Transcripts for ISCA2 Gene

Unigene Clusters for ISCA2 Gene

Iron-sulfur cluster assembly 2 homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISCA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2:

Relevant External Links for ISCA2 Gene

GeneLoc Exon Structure for
ISCA2
ECgene alternative splicing isoforms for
ISCA2

Expression for ISCA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISCA2 Gene

Protein differential expression in normal tissues from HIPED for ISCA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.2) and Adrenal (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ISCA2 Gene



Protein tissue co-expression partners for ISCA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ISCA2 Gene:

ISCA2

SOURCE GeneReport for Unigene cluster for ISCA2 Gene:

Hs.291079

Evidence on tissue expression from TISSUES for ISCA2 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ISCA2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ISCA2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ISCA2 Gene

Orthologs for ISCA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ISCA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISCA2 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia ISCA2 33 34
  • 91.77 (n)
cow
(Bos Taurus)
Mammalia ISCA2 33 34
  • 90.13 (n)
oppossum
(Monodelphis domestica)
Mammalia ISCA2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Isca2 33 16 34
  • 85.71 (n)
rat
(Rattus norvegicus)
Mammalia Isca2 33
  • 85.71 (n)
chicken
(Gallus gallus)
Aves ISCA2 33 34
  • 68.21 (n)
lizard
(Anolis carolinensis)
Reptilia ISCA2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isca2 33
  • 58.82 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100150438 33
  • 66.98 (n)
ISCA2 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13623 33 34
  • 57.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010072 33
  • 52.5 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54G11A.9 33
  • 55.2 (n)
Y54G11A.9 34
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA2 34
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G03905 33
  • 48.81 (n)
rice
(Oryza sativa)
Liliopsida Os08g0369700 33
  • 53.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6700 34
  • 41 (a)
OneToOne
Species where no ortholog for ISCA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ISCA2 Gene

ENSEMBL:
Gene Tree for ISCA2 (if available)
TreeFam:
Gene Tree for ISCA2 (if available)

Paralogs for ISCA2 Gene

(1) SIMAP similar genes for ISCA2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ISCA2 Gene

genes like me logo Genes that share paralogs with ISCA2: view

No data available for Paralogs for ISCA2 Gene

Variants for ISCA2 Gene

Sequence variations from dbSNP and Humsavar for ISCA2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs483352893 pathogenic, Niemann-Pick disease type C2 74,493,272(+) C/A/G upstream_transcript_variant
rs574247323 uncertain-significance, Niemann-Pick disease, type C 74,493,363(+) C/T upstream_transcript_variant
rs578161135 uncertain-significance, Niemann-Pick disease, type C 74,493,342(+) C/A/G/T upstream_transcript_variant
rs730882246 likely-pathogenic, pathogenic, Death in infancy, Failure to thrive, Global developmental delay, High CSF lactic acid, Muscular hypotonia of the trunk, Neurodegeration, Optic atrophy, Spastic tetraplegia, Multiple mitochondrial dysfunctions syndrome 4, not provided, Multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370] 74,494,329(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs80358260 pathogenic, Niemann-Pick disease type C2 74,493,217(+) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ISCA2 Gene

Variant ID Type Subtype PubMed ID
nsv832829 CNV loss 17160897
esv3634943 CNV gain 21293372

Variation tolerance for ISCA2 Gene

Residual Variation Intolerance Score: 42.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISCA2 Gene

Human Gene Mutation Database (HGMD)
ISCA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISCA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISCA2 Gene

Disorders for ISCA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ISCA2 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 4
  • mmds4
multiple mitochondrial dysfunctions syndrome
  • multiple mitochondrial dysfunctions syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search ISCA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ISCA2_HUMAN
  • Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. {ECO:0000269 PubMed:25539947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ISCA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ISCA2: view

No data available for Genatlas for ISCA2 Gene

Publications for ISCA2 Gene

  1. The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel AD … Lill R (Molecular biology of the cell 2012) 2 3 4 58
  2. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. (PMID: 25539947) Al-Hassnan ZN … Kaya N (Journal of medical genetics 2015) 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ISCA2 Gene

Sources for ISCA2 Gene

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