Property Summary

NCBI Gene PubMed Count 9
PubMed Score 19.85
PubTator Score 5.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
ovarian cancer 8492 0.00345814746619231
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00414279498448843
Disease Target Count Z-score Confidence
Leukodystrophy 30 3.26 1.6

Expression

  Differential Expression (2)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.164 0.004
ovarian cancer 1.400 0.003

Synonym

Accession Q86U28 A6NFF1 A8K3W3 G3V291 Q8IYZ0 Q96BB2
Symbols ISA2
HBLD1
MMDS4
c14_5557

Gene

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Chicken EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG
C. elegans OMA EggNOG
Fruitfly EggNOG Inparanoid
S.cerevisiae EggNOG Inparanoid

Gene RIF (6)

PMID Text
25539947 We identified a homoallelic missense founder mutation in ISCA2 leading to mitochondrial depletion and reduced complex I activity as well as decreased ISCA2, ISCA1 and IBA57 expression in fibroblasts.
24733926 The structural plasticity of the dimeric state of the [2Fe-2S] bound form of human GRX5 is the crucial factor that allows an efficient cluster transfer to the partner proteins human ISCA1 and ISCA2 by a specific protein-protein recognition mechanism.
22323289 ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFL      1 - 70
RLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQA     71 - 140
QQGCSCGSSFSIKL                                                            141 - 154
//

Text Mined References (15)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
25416956 2014 A proteome-scale map of the human interactome network.
24733926 2014 [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22323289 2012 The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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