ISCA2 (iron-sulfur cluster assembly 2)

2014-11-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
HBLD1,ISA2,MMDS4,c14_5557

Other Information

Locus ID:

NCBI: 122961
MIM: 615317
HGNC: 19857
Ensembl: ENSG00000165898

Variants:

dbSNP: 122961
ClinVar: 122961
TCGA: ENSG00000165898
COSMIC: ISCA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165898ENST00000298818J3QSS7
ENSG00000165898ENST00000554924Q86U28
ENSG00000165898ENST00000556816Q86U28

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
223232892012The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.56
247339262014[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.28
255399472015ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
292979472018Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.5

Citation

Dessen P

ISCA2 (iron-sulfur cluster assembly 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64668/isca2