Aliases for RBBP8 Gene
Aliases for RBBP8 Gene
External Ids for RBBP8 Gene
- HGNC: 9891
- Entrez Gene: 5932
- Ensembl: ENSG00000101773
- OMIM: 604124
- UniProtKB: Q99708
Previous HGNC Symbols for RBBP8 Gene
- SCKL2
Previous GeneCards Identifiers for RBBP8 Gene
- GC18P020402
- GC18P020243
- GC18P018765
- GC18P018767
- GC18P020513
- GC18P017367
- GC18P020378
Summaries 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 Seckel Syndrome 2 and Jawad Syndrome. Among its related pathways are Gene Expression and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include damaged DNA binding. 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).
Additional gene information for RBBP8 Gene
- Monarch Initiative
- Search for RBBP8 at DataMed
- Search for RBBP8 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBBP8 Gene
Genomics for RBBP8 Gene
GeneHancer (GH) Regulatory Elements for RBBP8 Gene
Promoters and enhancers for RBBP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around RBBP8 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RBBP8 gene promoter:
-
- Nkx2-5
- Egr-3
- SRF (504 AA)
- SRF
- Nkx2-2
- FOXJ2 (long isoform)
Regulatory Element Products
Genomic Locations for RBBP8 Gene
Genomic Locations for RBBP8 Gene
- chr18:22,798,261-23,026,488
- (GRCh38/hg38)
- Size:
- 228,228 bases
- Orientation:
- Plus strand
- chr18:20,378,224-20,606,451
- (GRCh37/hg19)
- 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:
-
- 18q11.2 by Entrez Gene
- 18q11.2 by HGNC
- 18q11.2 by Ensembl
RBBP8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with AUNIP; leading to recruit RBBP8 to sites of DNA damage (PubMed:29042561).
Protein Expression 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
Other Protein References for RBBP8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RBBP8
- Novus Biologicals Antibodies for RBBP8
-
Abcam antibodies for RBBP8
- Invitrogen Antibodies for RBBP8
- GeneTex RBBP8 Antibody for RBBP8
-
Boster Bio Antibodies for RBBP8
-
Custom Antibody ServicesProSci Antibodies for RBBP8
-
Santa Cruz Biotechnology (SCBT) Antibodies for RBBP8
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RBBP8
- Origene Custom Protein Services for RBBP8
- Novus Biologicals proteins for RBBP8
- Search GeneTex for Proteins for RBBP8
-
Abcam proteins for RBBP8
Assay Products
No data available for DME Specific Peptides for RBBP8 Gene
Domains & Families for RBBP8 Gene
Gene Families for RBBP8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RBBP8 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RBBP8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99708UniProtKB/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.
Function for RBBP8 Gene
Molecular function for RBBP8 Gene
- 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).
- GENATLAS Biochemistry:
- retinoblastoma binding protein,ubiquitously expressed
Enzyme Numbers (IUBMB) for RBBP8 Gene
Phenotypes From GWAS Catalog 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:0003677 | DNA binding | IEA | -- |
| GO:0003684 | damaged DNA binding | IDA | 18716619 |
| GO:0004518 | nuclease activity | IEA | -- |
Phenotypes for RBBP8 Gene
- MGI mutant phenotypes for RBBP8:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for RBBP8:
-
- Decreased homologous recombination repair frequency
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Negative genetic interaction between BLM-/- and BLM+/+
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased viability
- no effect
- Increased caspase activity
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for RBBP8 Gene
- MGI Knock Outs for RBBP8:
-
- Rbbp8 Rbbp8<tm1Whl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RBBP8
-
CRISPR Products
-
OriGene CRISPR knockouts for RBBP8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBBP8
- Applied Biological Materials CRISPR for RBBP8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBBP8
- GenScript: Design CRISPR guide RNA sequences for RBBP8
miRNA for RBBP8 Gene
- miRTarBase miRNAs that target RBBP8
-
- hsa-mir-375 (MIRT019821)
- hsa-mir-19a-3p (MIRT079744)
- hsa-mir-19b-3p (MIRT079745)
- hsa-mir-4459 (MIRT469526)
- hsa-mir-6516-5p (MIRT469527)
- hsa-mir-550b-2-5p (MIRT469528)
- hsa-mir-455-3p (MIRT469529)
- hsa-mir-1227-3p (MIRT469530)
- hsa-mir-25-5p (MIRT469531)
- hsa-mir-658 (MIRT469532)
- hsa-mir-6499-3p (MIRT469533)
- hsa-mir-4765 (MIRT469534)
- hsa-mir-1236-5p (MIRT469535)
- hsa-mir-6086 (MIRT469536)
- hsa-mir-377-5p (MIRT469537)
- hsa-mir-6087 (MIRT469538)
- hsa-mir-5186 (MIRT469539)
- hsa-mir-1247-3p (MIRT469540)
- hsa-mir-3174 (MIRT469541)
- hsa-mir-1273e (MIRT736780)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBBP8
- Browse OriGene Inhibitory RNA Products For RBBP8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBBP8
Clone Products
-
OriGene ORF clones in human for RBBP8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBBP8
- VectorBuilder custom plasmid, inducible vectors for RBBP8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBBP8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBBP8
- genomics-online: cdna clones - Search results for 111 available Retinoblastoma Binding Protein 8 gene related products
- Overview of 111 available Retinoblastoma Binding Protein 8 gene related products
- orf clones - Search results for 111 available Retinoblastoma Binding Protein 8 gene related products
- Overview of 111 available Retinoblastoma Binding Protein 8 gene related products
- Applied Biological Materials Clones for RBBP8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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, PubMed:25349192). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604). {ECO:0000269 PubMed:10764811, ECO:0000269 PubMed:16818604, ECO:0000269 PubMed:25349192}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,TAS | 10764811 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0017053 | transcriptional repressor complex | IDA | 16287852 |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
Pathways & Interactions for RBBP8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | ||
| 3 | Homologous DNA Pairing and Strand Exchange | ||
| 4 | Regulation of TP53 Activity | ||
| 5 | Cell Cycle Checkpoints |
.84
|
|
Pathways by source for RBBP8 Gene
1 GeneTex pathway for RBBP8 Gene
5 BioSystems pathways for RBBP8 Gene
24 Reactome pathways for RBBP8 Gene
1 KEGG pathway for RBBP8 Gene
1 Qiagen pathway for RBBP8 Gene
1 Cell Signaling Technology pathway for RBBP8 Gene
Interacting Proteins for RBBP8 Gene
Selected Interacting proteins:
Q99708-CTIP_HUMAN
ENSP00000323050
for RBBP8 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RBBP8
SIGNOR curated interactions for RBBP8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | IEA | -- |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000724 | double-strand break repair via homologous recombination | TAS,IEA | -- |
| GO:0000729 | DNA double-strand break processing | TAS | -- |
| GO:0000731 | DNA synthesis involved in DNA repair | TAS | -- |
Transcripts for RBBP8 Gene
mRNA/cDNA for RBBP8 Gene
- (11) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (144) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000583700 564 bps (uc060nwa.1)
- ENST00000579124 543 bps (uc060nwc.1)
- ENST00000577588 578 bps (uc060nwd.1)
- ENST00000582354 1019 bps (uc060nwe.1)
- ENST00000581819 574 bps (uc060nwf.1)
Unigene Clusters for RBBP8 Gene
- Retinoblastoma binding protein 8:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RBBP8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBBP8
- Applied Biological Materials CRISPR for RBBP8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBBP8
- GenScript: Design CRISPR guide RNA sequences for RBBP8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBBP8
- Browse OriGene Inhibitory RNA Products For RBBP8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBBP8
Clone Products
-
OriGene ORF clones in human for RBBP8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBBP8
- VectorBuilder custom plasmid, inducible vectors for RBBP8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBBP8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBBP8
- genomics-online: cdna clones - Search results for 111 available Retinoblastoma Binding Protein 8 gene related products
- Overview of 111 available Retinoblastoma Binding Protein 8 gene related products
- orf clones - Search results for 111 available Retinoblastoma Binding Protein 8 gene related products
- Overview of 111 available Retinoblastoma Binding Protein 8 gene related products
- Applied Biological Materials Clones for RBBP8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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, MaxQB, and MOPED for RBBP8 Gene
NURSA nuclear receptor signaling pathways regulating expression of RBBP8 Gene:
RBBP8SOURCE GeneReport for Unigene cluster for RBBP8 Gene:
Hs.546282mRNA 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for RBBP8
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RBBP8 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | RBBP8 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RBBP8 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rbbp8 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rbbp8 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | RBBP8 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RBBP8 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RBBP8 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rbbp8 33 |
|
||
| Str.7440 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | rbbp8 34 |
|
OneToOne | |
| Dr.21899 33 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RBBP8: view image
Paralogs for RBBP8 Gene
Pseudogenes.org Pseudogenes for RBBP8 Gene
Variants for RBBP8 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1005642266 | uncertain-significance, Microcephaly with mental retardation and digital anomalies, Seckel syndrome | 22,933,561(+) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1053025917 | uncertain-significance, Seckel syndrome, Microcephaly with mental retardation and digital anomalies | 22,933,394(+) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs112405175 | uncertain-significance, Microcephaly with mental retardation and digital anomalies, Seckel syndrome | 22,993,213(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs115479920 | uncertain-significance, Seckel syndrome, Microcephaly with mental retardation and digital anomalies | 22,933,413(+) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs116097101 | likely-benign, Seckel syndrome, Microcephaly with mental retardation and digital anomalies | 22,933,469(+) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
| 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 |
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)
Additional Variant Information for RBBP8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBBP8 Gene
Disorders for RBBP8 Gene
(8) MalaCards diseases for RBBP8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| seckel syndrome 2 |
|
|
| jawad syndrome |
|
|
| seckel syndrome |
|
|
| retinoblastoma |
|
|
| arteriovenous malformations of the brain |
|
|
Search RBBP8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CTIP_HUMAN- 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.
- 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}.
Additional Disease Information for RBBP8
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RBBP8 Gene
Publications for RBBP8 Gene
- Human CtIP promotes DNA end resection. (PMID: 17965729) Sartori AA … Jackson SP (Nature 2007) 2 3 4 22 58
- Molecular cloning and characterization of a novel retinoblastoma-binding protein. (PMID: 9721205) Fusco C … Zervos AS (Genomics 1998) 2 3 4 22 58
- CtIP Mutations Cause Seckel and Jawad Syndromes. (PMID: 21998596) Qvist P … Børglum AD (PLoS genetics 2011) 2 3 4 58
- Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L … Gayther SA (Human molecular genetics 2009) 3 4 44 58
- N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair. (PMID: 19759395) Yuan J … Chen J (The Journal of biological chemistry 2009) 3 4 22 58
Products for RBBP8 Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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- Yeast expression
- antibodies-online: Search results for 107 available Retinoblastoma Binding Protein 8 Antibodies ranked by validation data
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- GeneTex RBBP8 Antibody for RBBP8
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- genomics-online: cdna clones - Search results for 111 available Retinoblastoma Binding Protein 8 gene related products
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- Boster Bio Antibodies for RBBP8
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Sources for RBBP8 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
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- (114) diseasecard
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- (148) abm
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
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- (160) Aminode
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