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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23421
Gene name	Integrin subunit beta 3 binding protein
Gene symbol	ITGB3BP
Synonyms (NCBI Gene)	CENP-RCENPRHSU37139NRIF3TAP20
Chromosome	1
Chromosome location	1p31.3
Summary	This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signali

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045781	hsa-miR-9-5p	CLASH	23622248
MIRT528580	hsa-miR-3156-5p	PAR-CLIP	22012620
MIRT528579	hsa-miR-224-5p	PAR-CLIP	22012620
MIRT528578	hsa-miR-7161-3p	PAR-CLIP	22012620
MIRT528577	hsa-miR-4491	PAR-CLIP	22012620
MIRT528576	hsa-miR-4657	PAR-CLIP	22012620
MIRT528575	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT528574	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT528573	hsa-miR-150-3p	PAR-CLIP	22012620
MIRT528580	hsa-miR-3156-5p	PAR-CLIP	22012620
MIRT528579	hsa-miR-224-5p	PAR-CLIP	22012620
MIRT528578	hsa-miR-7161-3p	PAR-CLIP	22012620
MIRT528577	hsa-miR-4491	PAR-CLIP	22012620
MIRT528576	hsa-miR-4657	PAR-CLIP	22012620
MIRT528575	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT528574	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT528573	hsa-miR-150-3p	PAR-CLIP	22012620

Show/Hide all (1)

Transcription factor	Regulation	Reference
MTA1	Unknown	15254226

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000939	Component	Inner kinetochore	IPI	36085283
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 26496610, 31515488, 32296183, 32814053, 33961781
GO:0005515	Function	Protein binding	TAS	10490654
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	36085283
GO:0005634	Component	Nucleus	TAS	10490654
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7593198
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007059	Process	Chromosome segregation	NAS	36085283
GO:0007155	Process	Cell adhesion	TAS	7593198
GO:0007165	Process	Signal transduction	TAS	7593198, 10490654
GO:0016020	Component	Membrane	TAS	7593198
GO:0034080	Process	CENP-A containing chromatin assembly	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051301	Process	Cell division	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
605494	6157	ENSG00000142856

Q13352

Protein name

Centromere protein R (CENP-R) (Beta-3-endonexin) (Integrin beta-3-binding protein) (Nuclear receptor-interacting factor 3)

Protein function

Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fas

PDB

7PB8 , 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06729	CENP-R	25 → 162	Kinetochore component, CENP-R	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and granulocytes. {ECO:0000269|PubMed:1186470

Sequence

MPVKRSLKLDGLLEENSFDPSKITRKKSVITYSPTTGTCQMSLFASPTSSEEQKHRNGLS
NEKRKKLNHPSLTESKESTTKDNDEFMMLLSKVEKLSEEIMEIMQNLSSIQALEGSRELE
NLIGISCASHFLKREMQKTKELMTKVNKQKLFEKSTGLPHKASRHLDSYEFLKAILN

Sequence length

177

Interactions

View interactions

	Reactome
			Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal NRIF signals cell death from the nucleus Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Deposition of new CENPA-containing nucleosomes at the centromere Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation

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 (3)

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.
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	15082778, 19190336, 21444724, 25409762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15254226, 18521086, 19190336, 21444724, 25409762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32623384, 34457090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33974527	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35496042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34953037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen Storage Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33974527	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15082778, 19190336, 21444724, 25409762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25409762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15082778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28795467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31578411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25409762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25409762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ITGB3BP (integrin subunit beta 3 binding protein)