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Aliases for RBBP8 Gene

Aliases for RBBP8 Gene

  • RB Binding Protein 8, Endonuclease 2 3 5
  • CTBP-Interacting Protein 2 3 4
  • Sporulation In The Absence Of SPO11 Protein 2 Homolog 3 4
  • Retinoblastoma-Binding Protein 8 2 4
  • Retinoblastoma Binding Protein 8 2 3
  • RBBP-8 3 4
  • CTIP 3 4
  • SAE2 3 4
  • RIM 3 4
  • Retinoblastoma-Interacting Protein And Myosin-Like 4
  • DNA Endonuclease RBBP8 3
  • Seckel Syndrome 2 2
  • EC 3.1.-.- 4
  • SCKL2 3
  • COM1 3
  • JWDS 3

External Ids for RBBP8 Gene

Previous HGNC Symbols for RBBP8 Gene

  • SCKL2

Previous GeneCards Identifiers for RBBP8 Gene

  • GC18P020402
  • GC18P020243
  • GC18P018765
  • GC18P018767
  • GC18P020513
  • GC18P017367
  • GC18P020378

Summaries for RBBP8 Gene

Entrez Gene Summary for RBBP8 Gene

  • 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 CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for RBBP8 Gene

RBBP8 (RB Binding Protein 8, Endonuclease) is a Protein Coding gene. Diseases associated with RBBP8 include Jawad Syndrome and Seckel Syndrome 2. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). GO annotations related to this gene include damaged DNA binding and RNA polymerase II transcription corepressor activity. An important paralog of this gene is RBBP8NL.

UniProtKB/Swiss-Prot for RBBP8 Gene

  • 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. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:10764811, PubMed:10910365, PubMed:15485915, PubMed:16581787, PubMed:16818604, PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:20829486). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity).

Gene Wiki entry for RBBP8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP8 Gene

Genomics for RBBP8 Gene

Regulatory Elements for RBBP8 Gene

Enhancers for RBBP8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G022855 0.7 ENCODE dbSUPER 19.1 +59.0 59040 3.4 SCRT2 TEAD4 RBBP8 LOC101927571 ENSG00000273232 PIR41681
GH18G022977 1.1 Ensembl ENCODE 11.9 +180.0 180013 2.0 PKNOX1 INSM2 ZEB1 FOS RELB CREM ZNF362 USF2 JUNB CEBPB RBBP8 RN7SL745P ENSG00000265943
GH18G022932 1.3 Ensembl ENCODE 8.7 +135.9 135885 3.3 PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 SP5 LOC101927571 RBBP8 ENSG00000265943 RN7SL745P
GH18G023224 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +430.2 430227 8.6 HDGF PKNOX1 ATF1 WRNIP1 YBX1 ZNF121 ZNF766 GATA2 ZNF143 ZNF207 CABLES1 TMEM241 NPC1 C18orf8 RBBP8 PIR48090 GC18M023230
GH18G022912 1.1 FANTOM5 ENCODE 7.3 +116.5 116476 4.7 SOX13 NFIB CEBPG RAD21 CTBP1 ZNF316 GATA3 RCOR1 MAFK TCF7L2 LOC101927571 RBBP8 GC18M022908 GC18M022924
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBBP8 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBBP8 Gene

Chromosome:
18
Start:
22,798,261 bp from pter
End:
23,026,488 bp from pter
Size:
228,228 bases
Orientation:
Plus strand

Genomic View for RBBP8 Gene

Genes around RBBP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBBP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBBP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBBP8 Gene

Proteins for RBBP8 Gene

  • Protein details for RBBP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99708-CTIP_HUMAN
    Recommended name:
    DNA endonuclease RBBP8
    Protein Accession:
    Q99708
    Secondary Accessions:
    • A6NKN2
    • A8K8W6
    • E7ETY1
    • O75371
    • Q8NHQ3

    Protein attributes for RBBP8 Gene

    Size:
    897 amino acids
    Molecular mass:
    101942 Da
    Quaternary structure:
    • Homodimer; dimerizes via the coiled coil domain (PubMed:15084581). Interacts (via the PXDLS motif) with CTBP1; the interaction is disrupted via binding of the adenovirus E1A to CTBP1 (PubMed:9535825). Component of the BRCA1-RBBP8 complex. Interacts (the Ser-327 phosphorylated form) with BRCA1 (via the C-terminal BRCA1 domains): the interaction occurs in the G2 phase, ubiquitinates RBBP8 and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage (PubMed:10764811, PubMed:15485915, PubMed:16818604, PubMed:17965729, PubMed:23623683). Interacts with RB1 (PubMed:9721205). Interacts with the MRN complex. Interacts directly with MRE11; the interaction is required for efficient homologous recombination (HR) and regulation of the MRN complex (PubMed:19759395, PubMed:23623683). Interacts directly with RAD50 (PubMed:19759395). Interacts directly with NBN (PubMed:19759395). Interacts with SIRT6; the interaction deacetylates RBBP8 upon DNA damage (PubMed:20829486). Interacts with LM04 (via the LIM zinc-binding 1 domain) (PubMed:11751867). Interacts with SIAH1 (PubMed:14654780). Interacts with RNF138 (PubMed:26502057). Interacts with EXD2 (PubMed:26807646). Interacts with CUL3 and KLHL15; this interaction leads to RBBP8 proteasomal degradation (PubMed:27561354). Directly interacts with PIN1; this interaction depends upon RBBP8 phosphorylation, predominantly at Thr-315 (PubMed:23623683). Interacts with FZR1; this interaction leads to APC/C-mediated RBBP8 proteasomal degradation (PubMed:25349192).

    Three dimensional structures from OCA and Proteopedia for RBBP8 Gene

    Alternative splice isoforms for RBBP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBBP8 Gene

Post-translational modifications for RBBP8 Gene

  • Acetylated. Deacetylation by SIRT6 upon DNA damage promotes DNA end resection.
  • Hyperphosphorylation upon ionizing radiation results in dissociation from BRCA1. Phosphorylation at Thr-847 by CDK1 is essential for the recruitment to DNA and the DNA repair function. Phosphorylated on Ser-327 as cells enter G2 phase. This phosphorylation is required for binding BRCA1 and for the G2/M DNA damage transition checkpoint control. Phosphorylation at Thr-315, probably catalyzed by CDK2, is required for PIN1-binding, while phosphorylation at Ser-276 serves as a PIN1 isomerization site. Phosphorylation at Thr-315 is cell-cycle dependent. It steadily increases during S phase, peaks at late S/G2 phase, and drops at G1 (PubMed:23623683).
  • Ubiquitinated (PubMed:14654780, PubMed:16818604, PubMed:27561354). Ubiquitination at multiple sites by BRCA1 (via its N-terminal RING domain) does not lead to its proteosomal degradation but instead the ubiquitinated RBBP8 binds to chromatin following DNA damage and may play a role in G2/M checkpoint control (PubMed:16818604). Ubiquitinated by RNF138 at its N-terminus (PubMed:26502057). Ubiquitinated through Lys-48 by the E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation (PubMed:27561354). Ubiquitinated by the E3 FZR1/APC/C complex; this modification leads to proteasomal degradation (PubMed:25349192).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RBBP8 Gene

Domains & Families for RBBP8 Gene

Gene Families for RBBP8 Gene

Protein Domains for RBBP8 Gene

Suggested Antigen Peptide Sequences for RBBP8 Gene

Graphical View of Domain Structure for InterPro Entry

Q99708

UniProtKB/Swiss-Prot:

CTIP_HUMAN :
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • Belongs to the COM1/SAE2/CtIP family.
Domain:
  • The PXDLS motif binds to a cleft in CtBP proteins.
  • The damage-recruitment motif is required for DNA binding and translocation to sites of DNA damage.
Family:
  • Belongs to the COM1/SAE2/CtIP family.
genes like me logo Genes that share domains with RBBP8: view

Function for RBBP8 Gene

Molecular function for RBBP8 Gene

GENATLAS Biochemistry:
retinoblastoma binding protein,ubiquitously expressed
UniProtKB/Swiss-Prot 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. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage (PubMed:10764811, PubMed:10910365, PubMed:15485915, PubMed:16581787, PubMed:16818604, PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:20829486). During immunoglobulin heavy chain class-switch recombination, promotes microhomology-mediated alternative end joining (A-NHEJ) and plays an essential role in chromosomal translocations (By similarity).
UniProtKB/Swiss-Prot Induction:
Expression is cell-cycle regulated. Levels increase as dividing cells traverse the G1/S boundary (PubMed:18171986). The protein is degraded by the proteasome pathway during mitotic exit. Also degraded in response to DNA damage in G2 cells; this degradation is mediated by the E3 FZR1/APC/C complex (PubMed:25349192).

Enzyme Numbers (IUBMB) for RBBP8 Gene

Gene Ontology (GO) - Molecular Function for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IMP 18716619
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 16287852
GO:0001106 RNA polymerase II transcription corepressor activity IDA 16287852
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IDA 18716619
genes like me logo Genes that share ontologies with RBBP8: view
genes like me logo Genes that share phenotypes with RBBP8: view

Human Phenotype Ontology for RBBP8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RBBP8 Gene

MGI Knock Outs for RBBP8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for RBBP8 Gene

Localization for RBBP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBBP8 Gene

Nucleus. Chromosome. Note=Associates with sites of DNA damage in S/G2 phase (PubMed:10764811, Ref.29). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604). {ECO:0000269 PubMed:10764811, ECO:0000269 PubMed:16818604, ECO:0000269 PubMed:25349192}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBBP8 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IEA 10764811
GO:0005654 nucleoplasm IDA,TAS --
GO:0005694 chromosome IEA --
GO:0017053 transcriptional repressor complex IDA 16287852
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RBBP8: view

Pathways & Interactions for RBBP8 Gene

genes like me logo Genes that share pathways with RBBP8: view

Pathways by source for RBBP8 Gene

1 GeneTex pathway for RBBP8 Gene
1 Cell Signaling Technology pathway for RBBP8 Gene
1 KEGG pathway for RBBP8 Gene
1 Qiagen pathway for RBBP8 Gene

SIGNOR curated interactions for RBBP8 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RBBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint TAS 10764811
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000724 double-strand break repair via homologous recombination IEA,TAS --
GO:0000729 DNA double-strand break processing TAS --
genes like me logo Genes that share ontologies with RBBP8: view

Drugs & Compounds for RBBP8 Gene

(1) Additional Compounds for RBBP8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBBP8: view

Transcripts for RBBP8 Gene

Unigene Clusters for RBBP8 Gene

Retinoblastoma binding protein 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBBP8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - -
SP6: -
SP7:

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for RBBP8 Gene

GeneLoc Exon Structure for
RBBP8
ECgene alternative splicing isoforms for
RBBP8

Expression for RBBP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBBP8 Gene

Protein differential expression in normal tissues from HIPED for RBBP8 Gene

This gene is overexpressed in Stomach (38.7), Heart (18.8), and Liver, secretome (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBBP8 Gene



Protein tissue co-expression partners for RBBP8 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBBP8 Gene:

RBBP8

SOURCE GeneReport for Unigene cluster for RBBP8 Gene:

Hs.546282

mRNA Expression by UniProt/SwissProt for RBBP8 Gene:

Q99708-CTIP_HUMAN
Tissue specificity: Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level).

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBBP8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RBBP8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from TISSUES for RBBP8 Gene

Orthologs for RBBP8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBBP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBBP8 34 35
  • 99.18 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RBBP8 34 35
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia RBBP8 34 35
  • 87.04 (n)
mouse
(Mus musculus)
Mammalia Rbbp8 34 16 35
  • 84.08 (n)
rat
(Rattus norvegicus)
Mammalia Rbbp8 34
  • 82.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RBBP8 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBBP8 34 35
  • 66.52 (n)
lizard
(Anolis carolinensis)
Reptilia RBBP8 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbbp8 34
  • 58.53 (n)
Str.7440 34
zebrafish
(Danio rerio)
Actinopterygii rbbp8 35
  • 35 (a)
OneToOne
Dr.21899 34
Species where no ortholog for RBBP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBBP8 Gene

ENSEMBL:
Gene Tree for RBBP8 (if available)
TreeFam:
Gene Tree for RBBP8 (if available)

Paralogs for RBBP8 Gene

Paralogs for RBBP8 Gene

Pseudogenes.org Pseudogenes for RBBP8 Gene

genes like me logo Genes that share paralogs with RBBP8: view

Variants for RBBP8 Gene

Sequence variations from dbSNP and Humsavar for RBBP8 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs373804633 Pathogenic, Seckel syndrome 2 (SCKL2) [MIM:606744] 22,968,855(+) ATATG(C/T)GGAAA reference, missense, utr-variant-5-prime
rs121434388 Pathogenic 22,992,836(+) GTATC(A/G)AAAGT reference, missense
rs587776883 Pathogenic 23,001,782(+) GTAAG(G/T)TAAGT intron-variant
rs587776884 Pathogenic 22,993,635(+) TGACA(-/TA)AAGGT reference, frameshift-variant
rs587780432 Pathogenic 22,982,394(+) AAATG(G/T)TAAGA splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for RBBP8 Gene

Variant ID Type Subtype PubMed ID
dgv1868e59 CNV tandem duplication 20981092
esv1450571 CNV insertion 17803354
esv2659320 CNV deletion 23128226
esv3443453 CNV duplication 20981092
esv3641965 CNV loss 21293372
nsv1056849 CNV gain 25217958
nsv1067209 CNV loss 25217958
nsv1117194 CNV tandem duplication 24896259
nsv131399 CNV insertion 16902084

Variation tolerance for RBBP8 Gene

Residual Variation Intolerance Score: 4.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBBP8 Gene

Human Gene Mutation Database (HGMD)
RBBP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBBP8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP8 Gene

Disorders for RBBP8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RBBP8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
jawad syndrome
  • microcephaly with mental retardation and digital anomalies
seckel syndrome 2
  • seckel syndrome type 2
seckel syndrome
  • bird-headed dwarfism
pancreatic cancer
  • pancreatic carcinoma, somatic
retinoblastoma
  • retinoblastoma, trilateral
- elite association - COSMIC cancer census association via MalaCards
Search RBBP8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTIP_HUMAN
  • Jawad syndrome (JWDS) [MIM:251255]: A syndrome characterized by congenital microcephaly, moderately severe mental retardation, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. {ECO:0000269 PubMed:21998596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variability in RBBP8 is noted as a factor in BRCA1-associated breast cancer risk (PubMed:21799032). Associated with sensitivity to tamoxifen in certain breast cancer cell lines (PubMed:18171986). {ECO:0000269 PubMed:18171986, ECO:0000269 PubMed:21799032}.
  • Seckel syndrome 2 (SCKL2) [MIM:606744]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:21998596, ECO:0000269 PubMed:24389050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RBBP8

Genetic Association Database (GAD)
RBBP8
Human Genome Epidemiology (HuGE) Navigator
RBBP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBBP8
genes like me logo Genes that share disorders with RBBP8: view

No data available for Genatlas for RBBP8 Gene

Publications for RBBP8 Gene

  1. Human CtIP promotes DNA end resection. (PMID: 17965729) Sartori A.A. … Jackson S.P. (Nature 2007) 2 3 4 22 64
  2. Molecular cloning and characterization of a novel retinoblastoma- binding protein. (PMID: 9721205) Fusco C. … Zervos A.S. (Genomics 1998) 2 3 4 22 64
  3. CtIP mutations cause Seckel and Jawad syndromes. (PMID: 21998596) Jackson S.P. … Borglum A.D. (PLoS Genet. 2011) 2 3 4 64
  4. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L. … Gayther S.A. (Hum. Mol. Genet. 2009) 3 4 46 64
  5. N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair. (PMID: 19759395) Yuan J. … Chen J. (J. Biol. Chem. 2009) 3 4 22 64

Products for RBBP8 Gene

Sources for RBBP8 Gene

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