• Gene id: 664

Gene Summary

• Gene Symbol: BNIP3   Gene   UCSC   Ensembl
• Aliases: NIP3
• Gene name: BCL2 interacting protein 3
• Alternate names: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3, BCL2/adenovirus E1B 19kDa interacting protein 3, BCL2/adenovirus E1B interacting protein 3, nineteen kD interacting protein-3,
• Gene location: 10q26.3 (131982012: 131967682)     Exons: 8     NC_000010.11
• Gene summary(Entrez): This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methy
• OMIM: 603293

SNPs

rs12520985

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs4880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.159692840A>G
NC_000006.11   g.160113872A>G
NG_008729.3   g.74690T>C
NM_001024465.3   c.47T>C
NM_001024465.2   c.47T>C
NM_001024465.1   c.47T>C
NM_001024466.3   c.47T>C
NM_001024466.2   c.47T>C
NM_001024466.1   c.47T>C
NM_001322817.2   c.-92T>C
NM_001322  

Protein Summary

• Protein general information: Q12983  
  • Name: BCL2/adenovirus E1B 19 kDa protein interacting protein 3
  • Length: 259  
  • Mass: 27832
• Sequence:

  MGDAAADPPGPALPCEFLRPGCGAPLSPGAQLGRGAPTSAFPPPAAEAHPAARRGLRSPQLPSGAMSQNGAPGMQ
  EESLQGSWVELHFSNNGNGGSVPASVSIYNGDMEKILLDAQHESGRSSSKSSHCDSPPRSQTPQDTNRASETDTH
  SIGEKNSSQSEEDDIERRKEVESILKKNSDWIWDWSSRPENIPPKEFLFKHPKRTATLSMRNTSVMKKGGIFSAE
  FLKVFLPSLLLSHLLAIGLGIYIGRRLTTSTSTF

• Structural information:
  • Interpro: IPR010548  
  • PDB: 2J5D 2KA1 2KA2
  • PDBsum: 2J5D 2KA1 2KA2
  • DIP: 34429
  • STRING: ENSP00000357625
• Other Databases: GeneCards:  BNIP3  Malacards:  BNIP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0000422	autophagy of mitochondrion	NAS	biological process
GO:0043068	positive regulation of programmed cell death	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0097345	mitochondrial outer membrane permeabilization	IBA	biological process
GO:0043067	regulation of programmed cell death	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0035694	mitochondrial protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005740	mitochondrial envelope	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0071456	cellular response to hypoxia	IGI	biological process
GO:0060548	negative regulation of cell death	IGI	biological process
GO:0016239	positive regulation of macroautophagy	IGI	biological process
GO:0006915	apoptotic process	IPI	biological process
GO:0006915	apoptotic process	IPI	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:1901998	toxin transport	IEA	biological process
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0010821	regulation of mitochondrion organization	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:1903599	positive regulation of autophagy of mitochondrion	IEA	biological process
GO:0090649	response to oxygen-glucose deprivation	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0048102	autophagic cell death	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0010940	positive regulation of necrotic cell death	IEA	biological process
GO:0010917	negative regulation of mitochondrial membrane potential	IEA	biological process
GO:0010666	positive regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0010659	cardiac muscle cell apoptotic process	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:1903715	regulation of aerobic respiration	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:1902109	negative regulation of mitochondrial membrane permeability involved in apoptotic process	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0008219	cell death	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051020	GTPase binding	IPI	molecular function
GO:0043243	positive regulation of protein-containing complex disassembly	IDA	biological process
GO:0043653	mitochondrial fragmentation involved in apoptotic process	IDA	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:1990144	intrinsic apoptotic signaling pathway in response to hypoxia	IMP	biological process
GO:0010637	negative regulation of mitochondrial fusion	IDA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IDA	biological process
GO:0071279	cellular response to cobalt ion	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008626	granzyme-mediated apoptotic signaling pathway	IDA	biological process
GO:0072593	reactive oxygen species metabolic process	IDA	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0051607	defense response to virus	IDA	biological process
GO:0045837	negative regulation of membrane potential	IDA	biological process
GO:0043068	positive regulation of programmed cell death	IDA	biological process
GO:0097345	mitochondrial outer membrane permeabilization	IDA	biological process
GO:0046902	regulation of mitochondrial membrane permeability	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0051402	neuron apoptotic process	ISS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0005654	nucleoplasm	ISS	cellular component
GO:0031966	mitochondrial membrane	IMP	cellular component
GO:0010508	positive regulation of autophagy	TAS	biological process
GO:0008219	cell death	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0001666	response to hypoxia	ISS	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	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

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04140	Autophagy - animal
hsa04068	FoxO signaling pathway
hsa04137	Mitophagy - animal
hsa05134	Legionellosis

Diseases

Associated diseases	References
Ductal carcinoma in situ	PMID:14648660
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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