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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5932
Gene name	RB binding protein 8, endonuclease
Gene symbol	RBBP8
Synonyms (NCBI Gene)	COM1CTIPJAWADJWDSRIMSAE2SCKL2
Chromosome	18
Chromosome location	18q11.2
Summary	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTB

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434388	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs373804633	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587776883	T>G	Pathogenic	Intron variant
rs587776884	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780432	G>T	Pathogenic	Splice donor variant
rs762396810	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1064796899	C>T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019821	hsa-miR-375	Microarray	20215506
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT079744	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT079745	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT1293978	hsa-miR-1237	CLIP-seq
MIRT1293979	hsa-miR-1248	CLIP-seq
MIRT1293980	hsa-miR-130a	CLIP-seq
MIRT1293981	hsa-miR-130b	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293983	hsa-miR-18a	CLIP-seq
MIRT1293984	hsa-miR-18b	CLIP-seq
MIRT1293985	hsa-miR-19a	CLIP-seq
MIRT1293986	hsa-miR-19b	CLIP-seq
MIRT1293987	hsa-miR-205	CLIP-seq
MIRT1293988	hsa-miR-301a	CLIP-seq
MIRT1293989	hsa-miR-301b	CLIP-seq
MIRT1293990	hsa-miR-3182	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293993	hsa-miR-3646	CLIP-seq
MIRT1293994	hsa-miR-3662	CLIP-seq
MIRT1293995	hsa-miR-3666	CLIP-seq
MIRT1293996	hsa-miR-4295	CLIP-seq
MIRT1293997	hsa-miR-454	CLIP-seq
MIRT1293998	hsa-miR-4652-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294000	hsa-miR-4698	CLIP-seq
MIRT1294001	hsa-miR-4735-3p	CLIP-seq
MIRT1294002	hsa-miR-4793-5p	CLIP-seq
MIRT1294003	hsa-miR-518a-3p	CLIP-seq
MIRT1294004	hsa-miR-518b	CLIP-seq
MIRT1294005	hsa-miR-518c	CLIP-seq
MIRT1294006	hsa-miR-518d-3p	CLIP-seq
MIRT1294007	hsa-miR-518f	CLIP-seq
MIRT1294008	hsa-miR-548a-3p	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294011	hsa-miR-548ac	CLIP-seq
MIRT1294012	hsa-miR-548ae	CLIP-seq
MIRT1294013	hsa-miR-548aj	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294015	hsa-miR-548am	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294018	hsa-miR-548d-3p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294020	hsa-miR-548e	CLIP-seq
MIRT1294021	hsa-miR-548f	CLIP-seq
MIRT1294022	hsa-miR-548g	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294028	hsa-miR-548m	CLIP-seq
MIRT1294029	hsa-miR-548p	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294031	hsa-miR-548x	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294033	hsa-miR-548z	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
YBX1	Repression	20596676
ZNF350	Unknown	20713352

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IMP	18716619, 19202191, 31802118
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27814491, 27889449, 30787182, 31802118
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	26721387
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	18716619
GO:0003714	Function	Transcription corepressor activity	IDA	16287852
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	9811458, 10779361, 11739404, 11751867, 16101277, 16287852, 17525340, 18285836, 18716619, 19369211, 19759395, 21052091, 22565321, 22773103, 25416956, 25558984, 26721387, 26807646, 27561354, 28834754, 29042561, 29656893, 32296183, 34591612
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	18171670
GO:0005634	Component	Nucleus	TAS	10764811
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IBA
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IMP	18716619, 19202191
GO:0016787	Function	Hydrolase activity	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16287852
GO:0035825	Process	Homologous recombination	NAS	30657944
GO:0035861	Component	Site of double-strand break	IDA	27814491, 27889449, 31802118, 33836577
GO:0042802	Function	Identical protein binding	IPI	25558984
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16287852
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	29670289, 30612738
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	23273981, 27814491, 27889449, 30787182
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199

MIM	HGNC	e!Ensembl
604124	9891	ENSG00000101773

Q99708

Protein name

DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2)

Protein function

Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, Pu

PDB

1Y98 , 2L4Z , 4D2H , 7BGF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10482	CtIP_N	20 → 139	Tumour-suppressor protein CtIP N-terminal domain	Coiled-coil
PF08573	SAE2	822 → 858	DNA repair protein endonuclease SAE2/CtIP C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level). {ECO:0000269|PubMed:18171986}.

Sequence

MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFF
TKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITEL
MNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKE
NPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHG
TSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTR
NTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLK
TLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQN
RTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFS
MNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASD
GNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVL
DDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPG
ADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKM
NDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPY
FKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRF
RYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT

Sequence length

897

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Transcriptional Regulation by E2F6

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Jawad syndrome	Pathogenic; Likely pathogenic	rs1913849770, rs2045952037, rs2045882525, rs587776884	RCV001335995 RCV001808071 RCV002244119 RCV000023362
RBBP8-related disorder	Likely pathogenic	rs749174131	RCV002308497
Seckel syndrome 2	Likely pathogenic; Pathogenic	rs2045882525, rs762396810, rs587776883	RCV002244119 RCV002272237 RCV000023361

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; -	rs62095210, rs78074885, rs116097101	RCV005919904 RCV005920541 RCV006126405
Carcinoma of pancreas	Uncertain significance	rs121434388	RCV000006180
Cholangiocarcinoma	Benign	rs62095210	RCV005919908
Gastric cancer	Benign; Uncertain significance	rs62095210, rs571121362	RCV005919905 RCV005932081
Malignant tumor of esophagus	Benign	rs78074885	RCV005920542
Microcephaly	Uncertain significance	rs764537688	RCV001252883
Nonpapillary renal cell carcinoma	Uncertain significance	rs768080162	RCV005924049
Ovarian serous cystadenocarcinoma	Uncertain significance	rs377320407	RCV005892360
Sarcoma	Benign	rs78074885	RCV005920543
Seckel syndrome	Conflicting classifications of pathogenicity	rs370136343	RCV000373382
Thymoma	Benign	rs62095210	RCV005919907
Uterine carcinosarcoma	Benign	rs62095210	RCV005919906
Uterine corpus endometrial carcinoma	Benign	rs78074885	RCV005920544

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Aneurysm Familial Abdominal 1	Associate	27418160
Ataxia Telangiectasia	Associate	22544744
Ataxia Telangiectasia Like Disorder	Associate	23080121
ATR X syndrome	Stimulate	31628488
Breast Neoplasms	Associate	18171986, 21799032, 23468639, 24403251, 32379725, 34718410
Carcinogenesis	Associate	30622325, 9535825
Carcinoma Non Small Cell Lung	Associate	23407556, 35100078
Chromosome Aberrations	Associate	23349304
Colorectal Neoplasms	Associate	12414815, 23770684
DNA Virus Infections	Associate	29445424
Drug Hypersensitivity	Associate	23080121
Glioma	Associate	30915754, 35106666, 37713468
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27399284, 30306255
HIV Infections	Associate	28065665
Hypoxia	Stimulate	29855336
Intracranial Aneurysm	Associate	20364137, 31250579
Leukemia	Associate	23536721
Leukemia Myeloid Acute	Associate	23349304
Microcephaly	Associate	21998596
Microcephaly with Mental Retardation and Digital Anomalies	Associate	21998596
Microsatellite Instability	Associate	12414815, 23349304
Multiple Myeloma	Associate	30622325, 35414773
Neoplasm Metastasis	Inhibit	24403251
Neoplasms	Associate	12414815, 23080121, 23349304, 31418900, 34718410, 35106666, 9738006
Neoplasms	Inhibit	24403251
Nijmegen Breakage Syndrome	Associate	23468639
Osteogenesis imperfecta type 1A	Associate	27418160
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30646895
Prostatic Neoplasms	Associate	32300177
Radiation Injuries	Associate	23080121
Recombinant chromosome 8 syndrome	Stimulate	33947694
Retinoblastoma	Associate	24403251
Seckel syndrome 1	Associate	21998596
T Lymphocytopenia Idiopathic CD4 Positive	Associate	24794434
Tuberculosis	Associate	28065665
Urinary Bladder Neoplasms	Associate	29445424, 36076047
Uterine Cervical Neoplasms	Associate	31418900

RBBP8 (RB binding protein 8, endonuclease)