• Gene id: 23593

Gene Summary

• Gene Symbol: HEBP2   Gene   UCSC   Ensembl
• Aliases: C6ORF34B, C6orf34, PP23, SOUL
• Gene name: heme binding protein 2
• Alternate names: heme-binding protein 2, placental protein 23,
• Gene location: 6q24.1 (138403530: 138422196)     Exons: 5     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane per
• OMIM: 605825

Protein Summary

• Protein general information: Q9Y5Z4  
  • Name: Heme binding protein 2 (Placental protein 23) (PP23) (Protein SOUL)
  • Length: 205  
  • Mass: 22875
  • Tissue specificity: Detected in placenta. {ECO
• Sequence:

  MAEPLQPDPGAAEDAAAQAVETPGWKAPEDAGPQPGSYEIRHYGPAKWVSTSVESMDWDSAIQTGFTKLNSYIQG
  KNEKEMKIKMTAPVTSYVEPGSGPFSESTITISLYIPSEQQFDPPRPLESDVFIEDRAEMTVFVRSFDGFSSAQK
  NQEQLLTLASILREDGKVFDEKVYYTAGYNSPVKLLNRNNEVWLIQKNEPTKENE

• Structural information:
  • Interpro: IPR011256  IPR006917  
  • PDB: 3R85 3R8J 3R8K 4AYZ 4B0Y 5GQQ
  • PDBsum: 3R85 3R8J 3R8K 4AYZ 4B0Y 5GQQ
  • STRING: ENSP00000475750
• Other Databases: GeneCards:  HEBP2  Malacards:  HEBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0020037	heme binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
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:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1901031	regulation of response to reactive oxygen species	IMP	NOT|biological process
GO:0035794	positive regulation of mitochondrial membrane permeability	IMP	biological process
GO:0010940	positive regulation of necrotic cell death	IMP	biological process
GO:0010917	negative regulation of mitochondrial membrane potential	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq