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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
  • 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. 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.

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

Genomics for ISCA2 Gene

Regulatory Elements for ISCA2 Gene

Enhancers for ISCA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ISCA2 on UCSC Golden Path with GeneCards custom track

Promoters for ISCA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ISCA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ISCA2 Gene

Chromosome:
14
Start:
74,493,720 bp from pter
End:
74,497,106 bp from pter
Size:
3,387 bases
Orientation:
Plus strand

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

Proteomics data for ISCA2 Gene at MOPED

Post-translational modifications for ISCA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISCA2 Gene

No data available for DME Specific Peptides for ISCA2 Gene

Domains & Families for ISCA2 Gene

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

No data available for Gene Families for ISCA2 Gene

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.

Gene Ontology (GO) - Molecular Function for ISCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008198 ferrous iron binding IBA --
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

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
Jensen Localization Image for ISCA2 Gene COMPARTMENTS Subcellular localization image for ISCA2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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:0097428 protein maturation by iron-sulfur cluster transfer IBA --
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:

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 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, MOPED, and MaxQB for ISCA2 Gene



SOURCE GeneReport for Unigene cluster for ISCA2 Gene Hs.291079

genes like me logo Genes that share expression patterns with ISCA2: view

Protein tissue co-expression partners for ISCA2 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia ISCA2 35
  • 90.13 (n)
  • 87.5 (a)
ISCA2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISCA2 35
  • 91.77 (n)
  • 88.96 (a)
ISCA2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Isca2 35
  • 85.71 (n)
  • 83.77 (a)
Isca2 16
Isca2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ISCA2 35
  • 99.78 (n)
  • 99.35 (a)
ISCA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isca2 35
  • 85.71 (n)
  • 83.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ISCA2 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISCA2 35
  • 68.21 (n)
  • 70.2 (a)
ISCA2 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISCA2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isca2 35
  • 58.82 (n)
  • 62.5 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100150438 35
  • 66.98 (n)
  • 68.52 (a)
ISCA2 36
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010072 35
  • 52.5 (n)
  • 50 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13623 35
  • 57.14 (n)
  • 53.78 (a)
CG13623 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54G11A.9 35
  • 55.2 (n)
  • 50.4 (a)
Y54G11A.9 36
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISA2 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G03905 35
  • 48.81 (n)
  • 51.43 (a)
rice
(Oryza sativa)
Liliopsida Os08g0369700 35
  • 53.43 (n)
  • 51.47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6700 36
  • 41 (a)
OneToOne
Species with no ortholog for ISCA2:
  • 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 Sequence Context AA Info Type
VAR_073794 Multiple mitochondrial dysfunctions syndrome 4 (MMDS4)
rs3759745 -- 74,495,967(-) GGTCA(A/G)CAAAT downstream-variant-500B
rs11159086 -- 74,495,572(+) GGATC(C/T)GCTAT downstream-variant-500B
rs4903231 -- 74,495,530(+) TTCCT(A/G)TTTGA utr-variant-3-prime
rs142827133 -- 74,495,798(+) ATAGG(C/T)AATAG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv832829 CNV Loss 17160897
nsv902099 CNV Loss 21882294

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)

Relevant External Links for ISCA2 Gene

Human Gene Mutation Database (HGMD)
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: OMIM, ClinVar, 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.

Relevant External Links for ISCA2

Genetic Association Database (GAD)
ISCA2
Human Genome Epidemiology (HuGE) Navigator
ISCA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ISCA2
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 A.D. … Lill R. (Mol. Biol. Cell 2012) 2 3 4 67
  2. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. (PMID: 25539947) Al-Hassnan Z.N. … Kaya N. (J. Med. Genet. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis. (PMID: 24733926) Banci L. … Winkelmann J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ISCA2 Gene

Sources for ISCA2 Gene

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