BNIP3: Polycystic Ovarian Syndrome Database

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BNIP3

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

BNIP3

Aliases

NIP3

Entrez Gene ID

664

Gene Name

BCL2 interacting protein 3

Chromosomal Location

10q26.3

HGNC ID

HGNC:1084

Summary

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 methylation. [provided by RefSeq, Dec 2014]

e!Ensembl

Gene	ENSG00000176171
Transcript	ENST00000368636, ENST00000540159, ENST00000633835
Protein	ENSP00000357625, ENSP00000446145, ENSP00000487769

Gene Ontology (GO)

Show/Hide all(44 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000422	Biological process	Autophagy of mitochondrion	NAS	22505714
GO:0006915	Biological process	Apoptotic process	IPI	7954800
GO:0008626	Biological process	Granzyme-mediated apoptotic signaling pathway	IDA	9396766
GO:0010508	Biological process	Positive regulation of autophagy	TAS	18309324
GO:0010637	Biological process	Negative regulation of mitochondrial fusion	IDA	20436456
GO:0016239	Biological process	Positive regulation of macroautophagy	IGI	19273585
GO:0035694	Biological process	Mitochondrial protein catabolic process	IMP	22292033
GO:0043065	Biological process	Positive regulation of apoptotic process	IDA	9973195, 10381623
GO:0043066	Biological process	Negative regulation of apoptotic process	TAS	7954800
GO:0043068	Biological process	Positive regulation of programmed cell death	IBA	21873635
GO:0043068	Biological process	Positive regulation of programmed cell death	IDA	10891486
GO:0043243	Biological process	Positive regulation of protein complex disassembly	IDA	20436456
GO:0043653	Biological process	Mitochondrial fragmentation involved in apoptotic process	IDA	20436456
GO:0045837	Biological process	Negative regulation of membrane potential	IDA	10891486
GO:0046902	Biological process	Regulation of mitochondrial membrane permeability	IDA	10891486
GO:0051607	Biological process	Defense response to virus	IDA	9973195
GO:0060548	Biological process	Negative regulation of cell death	IGI	19273585
GO:0071260	Biological process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071279	Biological process	Cellular response to cobalt ion	IMP	20436456
GO:0071456	Biological process	Cellular response to hypoxia	IGI	19273585
GO:0071456	Biological process	Cellular response to hypoxia	IMP	20436456
GO:0072593	Biological process	Reactive oxygen species metabolic process	IDA	10891486
GO:0090141	Biological process	Positive regulation of mitochondrial fission	IDA	20436456
GO:0090200	Biological process	Positive regulation of release of cytochrome c from mitochondria	IDA	20436456
GO:0097345	Biological process	Mitochondrial outer membrane permeabilization	IBA	21873635
GO:0097345	Biological process	Mitochondrial outer membrane permeabilization	IDA	18371312
GO:1990144	Biological process	Intrinsic apoptotic signaling pathway in response to hypoxia	IMP	20436456
GO:0005635	Cellular component	Nuclear envelope	IBA	21873635
GO:0005635	Cellular component	Nuclear envelope	IDA	7954800
GO:0005739	Cellular component	Mitochondrion	IDA	7954800, 9396766, 18371312
GO:0005739	Cellular component	Mitochondrion	TAS	9973195
GO:0005741	Cellular component	Mitochondrial outer membrane	IBA	21873635
GO:0005741	Cellular component	Mitochondrial outer membrane	IDA	22292033
GO:0005783	Cellular component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Cellular component	Endoplasmic reticulum	NAS	22505714
GO:0031307	Cellular component	Integral component of mitochondrial outer membrane	IDA	10891486
GO:0031966	Cellular component	Mitochondrial membrane	IDA	10891486
GO:0031966	Cellular component	Mitochondrial membrane	IMP	9396766
GO:0005515	Molecular function	Protein binding	IPI	7954800, 10381623, 15868100, 16189514, 17360363, 18371312, 19060904, 20436456, 21516116, 22292033, 25416956, 27107012
GO:0042802	Molecular function	Identical protein binding	IPI	10381623, 16189514, 25416956, 27107012
GO:0042803	Molecular function	Protein homodimerization activity	IDA	9396766, 10381623
GO:0042803	Molecular function	Protein homodimerization activity	NAS	22505714
GO:0046982	Molecular function	Protein heterodimerization activity	IDA	10381623
GO:0051020	Molecular function	GTPase binding	IPI	20436456

Protein Information

Protein Name

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

Function

Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix. Plays an important role in the calprotectin (S100A8/A9)-induced cell death pathway

UniProt

Q12983

PDB

2J5D, 2KA1, 2KA2

Pfam

Pfam Accession	Pfam ID
PF06553	BNIP3

Pathways
	KEGG
	FoxO signaling pathway Mitophagy - animal Autophagy - animal Legionellosis

Interactions

STRING	MINT	IntAct
ENSP00000357625	Q12983	Q12983

View interactions

Associated Diseases

Show/Hide all(12 )

Disease group	Disease Name	References
Blood Disorders
	Myelofibrosis	18838203
	Thrombocytopenia	15271793
Cardiovascular Diseases
	Heart Diseases	30744415, 21126215
	Coronary heart disease	23160801
	Vasculopathy	25547946
	Myocardial Ischemia	24755328
	Cardiovascular Abnormalities	23568341
	Heart Failure	20022263
	Cardiomyopathy	19752367
Digestive System Diseases
Digestive System Diseases	Peritonitis	27807188
Endocrine System Diseases
	PCOS	29344314
	Insulin Resistance Syndrome	29751091
	Diabetes Mellitus	27837193, 28537848
	Neuronal ceroid lipofuscinosis	23142642
Eye Diseases
Eye Diseases	Lens Opacification	19729006
Musculoskeletal Diseases
	Necrosis	29540653
	Muscle Atrophy	24395438, 30132871, 23414389, 24526667, 19221466
	Myopathy	29402601
Neoplasms
	Breast Cancer	30922314, 25700560, 27286975, 31173249, 19505343, 25656679, 17255267, 26298722, 27746856, 27472901, 16740734, 26059435, 19183193, 20068093, 22159450, 23129632, 23443971, 23195224, 29287594
	Uveal melanoma	29982263
	Salivary Gland Neoplasms	28317361
	Gastric Cancer	21152877, 18092960, 20082478, 25009298
	Prostate cancer	18163427, 20437871, 20564325, 16500022
	Skin Cancer	24625986, 24767210
	Leukemia	30409182, 29317636, 21401803, 21575156, 19066447
	Liver Cancer	23504944, 30940322, 17717605, 26633714, 12215374, 27405163
	Myeloid Neoplasias	24280934
	Lung Cancer	25981168, 28117625, 29421438, 23216071, 20666737, 26264650
	Squamous Cell Carcinoma	18476629, 26934124
	Renal Cancer	29084770, 22777959
	Colorectal Cancer	24211581, 23364257, 28540987, 19956881, 25216025, 10993958, 22433385, 22213796, 14761923, 28376477, 15067352
	Pancreatic Neoplasm	28167504, 17729412, 28148542, 15856026, 21573703, 23789218, 15837765, 22873289, 19657213
	Ampullary Cancer	27273680
	Ovarian Adenocarcinoma	26232338
	Colonic Neoplasms	17576382, 15850808, 21911457, 22461695, 21265097, 23411228, 15560738, 17195906
	Ductal Carcinoma	26367733
	Adenoid Cystic Carcinoma	26847304
	Glioblastoma Multiforme	16217754
	Osteosarcoma	25618603
	Multiple Myeloma	18172295, 19690192
	Adenocarcinoma	23452288
	Hematopoietic Neoplasms	15756280
	Esophagus Neoplasm	27893424
	Ovarian Cancer	25968887, 14985451
	Glioma	19339613, 24511615, 15592527, 27536856
	Myeloid Leukemia	27592257, 18339423
	Neuroblastoma	25391657
	Carcinoma	24229683
	Ependymoma	17265049
	Cholangiocarcinoma	21333016
	Sarcpenia	25758773
	Glioblastoma	26439597
Nervous System Diseases
	Degenerative Diseases Central Nervous System	25753537
	Transient Ischemic Attack	19641497
	Neuropathy	27506976
	Muscular Dystrophy	23152054
	Cerebral Thrombosis	17233898
Nutritional and Metabolic Diseases
	Mitochondrial Diseases	28981117, 27162261, 25891311, 25888379, 27453450, 30374881, 12690563
	Hyperglycemia	30554659, 26048236
	Obesity	24676543
Reproductive disorders
Reproductive disorders	Preeclampsia	28618048
Respiratory Tract Diseases
	Asthma	31509440, 28450286
	Rheumatoid Arthritis-Associated Interstitial Lung Disease	30106100
	Chronic Obstructive Pulmonary Disease	30302028, 29943813
	Pulmonary Emphysema	19574421
Skin and Connective Tissue Diseases
Skin and Connective Tissue Diseases	Tendinopathy	20190320

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
29344314		PCOS, Lipid and Steroid metabolism		Rotterdam Criteria	Direct	79 PCOs patients and 93 controls	The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results.

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