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
372251082023Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.2
372251082023Copper exerts cytotoxicity through inhibition of iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins.2
357149322022ISCA2 deficiency leads to heme synthesis defects and impaired erythroid differentiation in K562 cells by indirect ROS-mediated IRP1 activation.3
360971922022ISCA2 inhibition decreases HIF and induces ferroptosis in clear cell renal carcinoma.13
357149322022ISCA2 deficiency leads to heme synthesis defects and impaired erythroid differentiation in K562 cells by indirect ROS-mediated IRP1 activation.3
360971922022ISCA2 inhibition decreases HIF and induces ferroptosis in clear cell renal carcinoma.13
335624932021Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly.11
337113442021ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins.6
335624932021Characterization and Reconstitution of Human Lipoyl Synthase (LIAS) Supports ISCA2 and ISCU as Primary Cluster Donors and an Ordered Mechanism of Cluster Assembly.11
337113442021ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins.6
324246282020Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.7
324246282020Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.7
318318562019Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery.14
318318562019Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery.14
292979472018Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.12

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-(iron-sulfur-cluster-assembly-2)