• Gene id: 122961

Gene Summary

• Gene Symbol: ISCA2   Gene   UCSC   Ensembl
• Aliases: HBLD1, ISA2, MMDS4, c14_5557
• Gene name: iron-sulfur cluster assembly 2
• Alternate names: iron-sulfur cluster assembly 2 homolog, mitochondrial, HESB-like domain-containing protein 1,
• Gene location: 14q24.3 (74493719: 74497105)     Exons: 4     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 615317

Protein Summary

• Protein general information: Q86U28  
  • Name: Iron sulfur cluster assembly 2 homolog, mitochondrial (HESB like domain containing protein 1)
  • Length: 154  
  • Mass: 16476
• Sequence:

  MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVE
  GGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSF
  SIKL

• Structural information:
  • Interpro: IPR000361  IPR016092  IPR017870  IPR035903  
  • Prosite: PS01152
  • STRING: ENSP00000452007
• Other Databases: GeneCards:  ISCA2  Malacards:  ISCA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106035	protein maturation by [4Fe-4S] cluster transfer	IBA	biological process
GO:0051604	protein maturation	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0005506	iron ion binding	IBA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0097428	protein maturation by iron-sulfur cluster transfer	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Multiple mitochondrial dysfunctions syndrome	KEGG:H01894
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)