Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10101
Gene name	NUBP iron-sulfur cluster assembly factor 2, cytosolic
Gene symbol	NUBP2
Synonyms (NCBI Gene)	CFD1CIAO6NBP 2NUBP1
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative spli

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028953	hsa-miR-26b-5p	Microarray	19088304
MIRT032194	hsa-let-7b-5p	Proteomics	18668040
MIRT1196622	hsa-miR-1193	CLIP-seq
MIRT1196623	hsa-miR-1224-5p	CLIP-seq
MIRT1196624	hsa-miR-1288	CLIP-seq
MIRT1196625	hsa-miR-298	CLIP-seq
MIRT1196626	hsa-miR-3158-5p	CLIP-seq
MIRT1196627	hsa-miR-3169	CLIP-seq
MIRT1196628	hsa-miR-3622a-3p	CLIP-seq
MIRT1196629	hsa-miR-3622b-3p	CLIP-seq
MIRT1196630	hsa-miR-4418	CLIP-seq
MIRT1196631	hsa-miR-4688	CLIP-seq
MIRT1196632	hsa-miR-4747-5p	CLIP-seq
MIRT1196633	hsa-miR-4751	CLIP-seq
MIRT1196634	hsa-miR-4755-3p	CLIP-seq
MIRT1196635	hsa-miR-4802-3p	CLIP-seq
MIRT1196636	hsa-miR-490-5p	CLIP-seq
MIRT1196637	hsa-miR-509-3-5p	CLIP-seq
MIRT1196638	hsa-miR-509-5p	CLIP-seq
MIRT1196639	hsa-miR-544b	CLIP-seq
MIRT2057033	hsa-miR-2467-3p	CLIP-seq
MIRT1196626	hsa-miR-3158-5p	CLIP-seq
MIRT2057034	hsa-miR-342-3p	CLIP-seq
MIRT2057035	hsa-miR-3678-3p	CLIP-seq
MIRT2057036	hsa-miR-3921	CLIP-seq
MIRT2057037	hsa-miR-4251	CLIP-seq
MIRT2057038	hsa-miR-4329	CLIP-seq
MIRT2057039	hsa-miR-4632	CLIP-seq
MIRT2057040	hsa-miR-4653-5p	CLIP-seq
MIRT2057041	hsa-miR-4768-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000166	Function	Nucleotide binding	TAS	10486206
GO:0005515	Function	Protein binding	IPI	18573874, 25416956, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IBA
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0031616	Component	Spindle pole centrosome	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IBA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0140663	Function	ATP-dependent FeS chaperone activity	IEA

MIM	HGNC	e!Ensembl
610779	8042	ENSG00000095906

Q9Y5Y2

Protein name

Cytosolic Fe-S cluster assembly factor NUBP2 (Nucleotide-binding protein 2) (NBP 2)

Protein function

Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10609	ParA	12 → 263	NUBPL iron-transfer P-loop NTPase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest expression in skeletal muscle.

Sequence

MEAAAEPGNLAGVRHIILVLSGKGGVGKSTISTELALALRHAGKKVGILDVDLCGPSIPR
MLGAQGRAVHQCDRGWAPVFLDREQSISLMSVGFLLEKPDEAVVWRGPKKNALIKQFVSD
VAWGELDYLVVDTPPGTSDEHMATIEALRPYQPLGALVVTTPQAVSVGDVRRELTFCRKT
GLRVMGIVENMSGFTCPHCTECTSVFSRGGGEELAQLAGVPFLGSVPLDPALMRTLEEGH
DFIQEFPGSPAFAALTSIAQKILDATPACLP

Sequence length

271

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cerebral Infarction	Cerebral Infarction	BEFREE	28442357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30629983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20554868, 29728920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28927116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	7806229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	7806229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	30201724, 7806229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28944854, 30178865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30506335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20554868, 29728920, 30506335, 31192971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28367640, 28603491		★★★★★ ★☆☆☆☆ Found in Text Mining only
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	BEFREE	7806229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30211221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17510397, 28927116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20554868, 21063685, 22233765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31192971		★★★★★ ★☆☆☆☆ Found in Text Mining only

NUBP2 (NUBP iron-sulfur cluster assembly factor 2, cytosolic)