ISCA2 - iron-sulfur cluster assembly 2 Gene

Homo sapiens

Also known as ISA2; HBLD1; MMDS4; c14_5557

Gene ID: 122961 | Gene type: protein coding

About ISCA2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,493,765-74,497,106 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.2), thyroid (RPKM 12.0) and 25 other tissues.

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]

ISCA2 Products(2)

mRNA	Protein	Name
NM_001272007.2	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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25347204	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25347204	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of mitochondrial [4Fe-4S] assembly complex	IDA IDA: Inferred from direct assay	25347204	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISCA2 Protein Structure

Fe-S_biosyn

0
100
154 a.a.

Protein Preferred Names

Protein Names

iron-sulfur cluster assembly 2 homolog, mitochondrial

HESB-like domain-containing protein 1

ISCA2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ISCA2	Q86U28	ISCA1	Homo sapiens	Q9BUE6	Anti Tag CoIP	33961781
Intra	ISCA2	Q86U28	RNF41	Homo sapiens	Q9H4P4	Anti Tag CoIP	33961781
Intra	ISCA2	Q86U28	ISCA2	Homo sapiens	Q86U28	NMR	25347204
Intra	ISCA2	Q86U28	ISCA1	Homo sapiens	Q9BUE6	NMR	25347204
Intra	ISCA2	Q86U28	RNF41	Homo sapiens	Q9H4P4	Validated Y2H	25416956
Intra	ISCA2	Q86U28	RNF41	Homo sapiens	Q9H4P4	Validated Y2H	32296183
Intra	ISCA2	Q86U28	IBA57	Homo sapiens	Q5T440	Anti Tag CoIP	33961781
Intra	ISCA2	Q86U28	IBA57	Homo sapiens	Q5T440	SAXS	31831856
Intra	ISCA2	Q86U28	RNF41	Homo sapiens	Q9H4P4	Y2H Prey Pooling	25416956
Intra	ISCA2	Q86U28	IBA57	Homo sapiens	Q5T440	GMS	31831856
Intra	ISCA2	Q86U28	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	ISCA2	Q86U28	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	ISCA2	Q86U28	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	DMWD	Homo sapiens	G5E9A7	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	DMWD	Homo sapiens	G5E9A7	Validated Y2H	32814053
Intra	ISCA2	Q86U28	DMWD	Homo sapiens	G5E9A7	Y2H Array	32814053
Intra	ISCA2	Q86U28	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
Intra	ISCA2	Q86U28	FAM124B	Homo sapiens	Q9H5Z6-2	Validated Y2H	32296183
Intra	ISCA2	Q86U28	CHAT	Homo sapiens	P28329-3	Validated Y2H	32814053
Intra	ISCA2	Q86U28	CHAT	Homo sapiens	P28329-3	Y2H Array	32814053
Intra	ISCA2	Q86U28	CHAT	Homo sapiens	P28329-3	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	ISCA2	Q86U28	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	ISCA2	Q86U28	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	ISCA2	Q86U28	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	ISCA2	Q86U28	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	ISCA2	Q86U28	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	ISCA2	Q86U28	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	ISCA2	Q86U28	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	ISCA2	Q86U28	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	TTR	Homo sapiens	P02766	Validated Y2H	32814053
Intra	ISCA2	Q86U28	TTR	Homo sapiens	P02766	Y2H Array	32814053
Intra	ISCA2	Q86U28	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	ISCA2	Q86U28	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	ISCA2	Q86U28	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	ISCA2	Q86U28	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	ISCA2	Q86U28	GRN	Homo sapiens	P28799	Validated Y2H	32814053
Intra	ISCA2	Q86U28	GRN	Homo sapiens	P28799	Y2H Array	32814053
Intra	ISCA2	Q86U28	GRN	Homo sapiens	P28799	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4	Multiple Mitochondrial Dysfunctions Syndrome Type 4
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2	MMDS2
Bola3 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 2
Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Combined Oxidative Phosphorylation Deficiency 19

COXPD19	Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia	ASAT
X-Linked Sideroblastic Anemia And Ataxia	X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Sideroblastic, With Ataxia	Anemia Sideroblastic And Spinocerebellar Ataxia
Pagon Bird Detter Syndrome	Pagon-Bird-Detter Syndrome
Xlsa-A	X-Linked Sideroblastic Anaemia And Ataxia
X-Linked Sideroblastic Anaemia With Ataxia	Sideroblastic Anemia With Spinocerebellar Ataxia
Xlsa/A	Anemia, Sideroblastic, Spinocerebellar Ataxia
Sideroblastic Anemia And Ataxia	Anemia Sideroblastic, And Spinocerebellar Ataxia

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-151344	HIF-1/2α-IN-2	Inhibitor	99.55%	Unkown
HY-RS06927	ISCA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ISCA2	VGNC	VGNC:42104
Felis catus	ISCA2	VGNC	VGNC:104477
Macaca mulatta	ISCA2	VGNC	VGNC:108306
Mus musculus	ISCA2	MGD	MGI:1921566
Bos taurus	ISCA2	VGNC	VGNC:30291
Rattus norvegicus	ISCA2	RGD	RGD:1563216

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