ISCA2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	ISCA2
Entrez Gene ID	122961
Full Name	iron-sulfur cluster assembly 2
Synonyms	HBLD1,ISA2,MMDS4,c14_5557
General protein information	Preferred Names iron-sulfur cluster assembly 2 Names iron-sulfur cluster assembly 2 homolog, mitochondrial HESB-like domain-containing protein 1
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 14 Map Location: 14q24.3
Summary	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].
Disorder MIM:	615317
Disorder Html:	Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001272007.1	NP_001258936.1	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor
NM_194279.4	NP_919255.2	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor
NM_194279.3	NP_919255.2	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor

Pathways from BioSystems

Homologies

	ISCA2	XP_001094302.1
Canis lupus familiaris (dog)	ISCA2	XP_547905.3
Oryza sativa (rice)	Os08g0369700	NP_001061658.2
Xenopus tropicalis (tropical clawed frog)	isca2	XP_004917109.1
Homo sapiens (human)	ISCA2	NP_919255.2
Mus musculus (house mouse)	Isca2	NP_083139.1
Gallus gallus (chicken)	ISCA2	XP_421267.4
Danio rerio (zebrafish)	LOC100150438	XP_003200417.1
Rattus norvegicus (Norway rat)	Isca2	NP_001102748.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP010072	XP_319229.4
Pan troglodytes (chimpanzee)	ISCA2	XP_001143075.2
Drosophila melanogaster (fruit fly)	CG13623	NP_001262920.1
Bos taurus (cattle)	ISCA2	NP_001033772.1
Caenorhabditis elegans (roundworm)	CELE_Y54G11A.9	NP_496981.2
Arabidopsis thaliana (thale cress)	AT5G03905	NP_568130.1

Gene Ontology
Bibliography

Related articles in PubMed

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE
Human mutation(2018 Jan)

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N
Journal of medical genetics52(3)186-94(2015 Mar)

[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
Banci L, Brancaccio D, Ciofi-Baffoni S, Del Conte R, Gadepalli R, Mikolajczyk M, Neri S, Piccioli M, Winkelmann J
Proceedings of the National Academy of Sciences of the United States of America111(17)6203-8(2014 Apr)

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
Sheftel AD, Wilbrecht C, Stehling O, Niggemeyer B, Els?sser HP, M?hlenhoff U, Lill R
Molecular biology of the cell23(7)1157-66(2012 Apr)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Title: ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

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.
Title: [2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.

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.
Title: The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

The following ISCA2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ISCA2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu19944	NM_194279.4 Latest version!	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu10153	NM_001272007.1 Latest version!	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	TBD	$69.30 $99.00
View Old Accession Versions >>
OHu19944	NM_194279.3	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

ISCA2 ( NM_194279.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_919255.2 Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu19944
Clone ID Related Accession (Same CDS sequence)	NM_194279.4 , NM_194279.3
Accession Version	NM_194279.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 465bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-24
Organism	Homo sapiens(human)
Product	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX248252.1 and AC005479.2. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_194279.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR1803613.130689.1, SRR1803614.117327.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 22323289; reported by MitoCarta MANE Ensembl match :: ENST00000556816.6/ ENSP00000452007.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGAGGCTT 
TTGGAAATCA CCGAAGGGTC AGAATTCCTC AGGCTGCAAG TGGAGGGAGG TGGATGCTCC 
GGATTCCAAT ACAAATTTTC ACTGGATACA GTTATCAACC CCGACGACAG GGTATTTGAA 
CAGGGTGGGG CAAGAGTGGT GGTTGACTCT GATAGCTTGG CCTTCGTGAA AGGGGCCCAG 
GTGGACTTCA GCCAAGAACT GATCCGAAGC TCATTTCAAG TGTTGAACAA TCCTCAAGCA 
CAGCAAGGCT GCTCCTGTGG GTCATCTTTC TCTATCAAAC TTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_919255.2
CDS	11..475
Translation	MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL

Target ORF information:

RefSeq Version	NM_194279.4
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_194279.4

ORF Insert Sequence:

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGAGGCTT 
TTGGAAATCA CCGAAGGGTC AGAATTCCTC AGGCTGCAAG TGGAGGGAGG TGGATGCTCC 
GGATTCCAAT ACAAATTTTC ACTGGATACA GTTATCAACC CCGACGACAG GGTATTTGAA 
CAGGGTGGGG CAAGAGTGGT GGTTGACTCT GATAGCTTGG CCTTCGTGAA AGGGGCCCAG 
GTGGACTTCA GCCAAGAACT GATCCGAAGC TCATTTCAAG TGTTGAACAA TCCTCAAGCA 
CAGCAAGGCT GCTCCTGTGG GTCATCTTTC TCTATCAAAC TTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

ISCA2 ( NM_194279.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_919255.2 Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu19944
Clone ID Related Accession (Same CDS sequence)	NM_194279.4 , NM_194279.3
Accession Version	NM_194279.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 465bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-02-22
Organism	Homo sapiens(human)
Product	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX114918.1 and BX248252.1. This sequence is a reference standard in the RefSeqGene project. On Dec 21, 2012 this sequence version replaced NM_194279.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: BX248252.1, SRR1803613.70309.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 22323289; reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGAGGCTT 
TTGGAAATCA CCGAAGGGTC AGAATTCCTC AGGCTGCAAG TGGAGGGAGG TGGATGCTCC 
GGATTCCAAT ACAAATTTTC ACTGGATACA GTTATCAACC CCGACGACAG GGTATTTGAA 
CAGGGTGGGG CAAGAGTGGT GGTTGACTCT GATAGCTTGG CCTTCGTGAA AGGGGCCCAG 
GTGGACTTCA GCCAAGAACT GATCCGAAGC TCATTTCAAG TGTTGAACAA TCCTCAAGCA 
CAGCAAGGCT GCTCCTGTGG GTCATCTTTC TCTATCAAAC TTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_919255.2
CDS	56..520
Translation	MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL

Target ORF information:

RefSeq Version	NM_194279.3
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_194279.3

ORF Insert Sequence:

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGAGGCTT 
TTGGAAATCA CCGAAGGGTC AGAATTCCTC AGGCTGCAAG TGGAGGGAGG TGGATGCTCC 
GGATTCCAAT ACAAATTTTC ACTGGATACA GTTATCAACC CCGACGACAG GGTATTTGAA 
CAGGGTGGGG CAAGAGTGGT GGTTGACTCT GATAGCTTGG CCTTCGTGAA AGGGGCCCAG 
GTGGACTTCA GCCAAGAACT GATCCGAAGC TCATTTCAAG TGTTGAACAA TCCTCAAGCA 
CAGCAAGGCT GCTCCTGTGG GTCATCTTTC TCTATCAAAC TTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

ISCA2 ( NM_001272007.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001258936.1 Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu10153
Clone ID Related Accession (Same CDS sequence)	NM_001272007.1
Accession Version	NM_001272007.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 183bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-08-04
Organism	Homo sapiens(human)
Product	iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX114918.1, DB501282.1 and BX248252.1. Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: DB501282.1, DB485692.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 22323289; reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGGGTATT 
TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001258936.1
CDS	56..238
Translation	MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQGI

Target ORF information:

RefSeq Version	NM_001272007.1
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly 2 (ISCA2), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001272007.1

ORF Insert Sequence:

ATGGCTGCCG CCTGGGGGTC GTCCCTAACG GCCGCGACGC AGAGAGCGGT CACTCCCTGG 
CCGAGGGGCA GGCTCCTCAC GGCCTCCCTG GGACCCCAGG CGCGTCGGGA GGCGTCGTCC 
TCCAGCCCCG AGGCCGGCGA AGGGCAGATC CGCCTCACAG ACAGTTGCGT CCAGGGTATT 
TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Human mutation(2018 Jan)
Alaimo JT,Besse A,Alston CL,Pang K,Appadurai V,Samanta M,Smpokou P,McFarland R,Taylor RW,Bonnen PE

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Journal of medical genetics52(3)186-94(2015 Mar)
Al-Hassnan ZN,Al-Dosary M,Alfadhel M,Faqeih EA,Alsagob M,Kenana R,Almass R,Al-Harazi OS,Al-Hindi H,Malibari OI,Almutari FB,Tulbah S,Alhadeq F,Al-Sheddi T,Alamro R,AlAsmari A,Almuntashri M,Alshaalan H,Al-Mohanna FA,Colak D,Kaya N

[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis.
Proceedings of the National Academy of Sciences of the United States of America111(17)6203-8(2014 Apr)
Banci L,Brancaccio D,Ciofi-Baffoni S,Del Conte R,Gadepalli R,Mikolajczyk M,Neri S,Piccioli M,Winkelmann J

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
Molecular biology of the cell23(7)1157-66(2012 Apr)
Sheftel AD,Wilbrecht C,Stehling O,Niggemeyer B,Els?sser HP,M?hlenhoff U,Lill R

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ISCA2 cDNA ORF clone, Homo sapiens(human)

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Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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