ISCA2 - iron-sulfur cluster assembly 2 Gene

Also Known as ISA2; HBLD1; MMDS4; c14_5557

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 122961

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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (4)

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 Set	/	Unkown
HY-RS20967	Isca2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27484	Isca2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ISCA2	NCBI