ISCA2

Protein identityUniProt · HPA

UniProt accession

Q86U28

Gene

ISCA2

Ensembl

ENSG00000165898

Chromosome

14

Canonical length

154 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

154 residues, UniProt reviewed canonical sequence.

>Q86U28|ISCA2
     1  MAAAWGSSLT AATQRAVTPW PRGRLLTASL GPQARREASS SSPEAGEGQI RLTDSCVQRL
    61  LEITEGSEFL RLQVEGGGCS GFQYKFSLDT VINPDDRVFE QGGARVVVDS DSLAFVKGAQ
   121  VDFSQELIRS SFQVLNNPQA QQGCSCGSSF SIKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ISCA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ISCA2.

Disease | AllUniProt

Conditions ISCA2 is implicated in, by any mechanism.

• Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) MIM:616370

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Multiple mitochondrial dysfunctions syndrome 4
• 8 conditions
• Fatal multiple mitochondrial dysfunctions syndrome
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.91

gnomAD pLI

0

gnomAD missense Z

0.38

DepMap mean gene effect

-0.67

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• iron-sulfur cluster assembly
• protein maturation

Molecular functions

• 2 iron, 2 sulfur cluster binding
• 4 iron, 4 sulfur cluster binding
• identical protein binding
• iron ion binding

Cellular components

• mitochondrial [4Fe-4S] assembly complex
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Core domain, A-type assembly protein ATAP
• FeS A-type assembly protein ATAP
• FeS cluster insertion, C-terminal, conserved site
• HesB-like domain superfamily
• Iron-sulphur cluster biosynthesis

KeywordsUniProt

• Iron
• Iron-sulfur
• Metal-binding
• Mitochondrion
• Primary mitochondrial disease
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ISCA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF41