Aliases for CUL2 Gene
Aliases for CUL2 Gene
External Ids for CUL2 Gene
- HGNC: 2552
- Entrez Gene: 8453
- Ensembl: ENSG00000108094
- OMIM: 603135
- UniProtKB: Q13617
Previous GeneCards Identifiers for CUL2 Gene
- GC10M035449
- GC10M035302
- GC10M035338
Summaries for CUL2 Gene
GeneCards Summary for CUL2 Gene
CUL2 (Cullin 2) is a Protein Coding gene. Diseases associated with CUL2 include Von Hippel-Lindau Syndrome and Familial Renal Papillary Carcinoma. Among its related pathways are Class I MHC mediated antigen processing and presentation and HIF-1 signaling pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is CUL1.
UniProtKB/Swiss-Prot for CUL2 Gene
-
Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the ECS complex depends on the substrate recognition component. ECS(VHL) mediates the ubiquitination of hypoxia-inducible factor (HIF).
Additional gene information for CUL2 Gene
- Monarch Initiative
- Search for CUL2 at DataMed
- Search for CUL2 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CUL2 Gene
Genomics for CUL2 Gene
GeneHancer (GH) Regulatory Elements for CUL2 Gene
Promoters and enhancers for CUL2 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 CUL2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CUL2 gene promoter:
-
- c-Jun
- ATF-2
Regulatory Element Products
Genomic Locations for CUL2 Gene
Genomic Locations for CUL2 Gene
- chr10:35,008,551-35,126,899
- (GRCh38/hg38)
- Size:
- 118,349 bases
- Orientation:
- Minus strand
- chr10:35,297,479-35,379,570
- (GRCh37/hg19)
- Size:
- 82,092 bases
- Orientation:
- Minus strand
Genomic View for CUL2 Gene
Genes around CUL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p11.21 by Entrez Gene
- 10p11.21 by HGNC
- 10p11.21 by Ensembl
CUL2 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 CUL2 Gene
Proteins for CUL2 Gene
-
Protein details for CUL2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13617-CUL2_HUMAN
- Recommended name:
- Cullin-2
- Protein Accession:
- Q13617
- B3KT95
- B7Z6K8
- D3DRY6
- G3V1S2
- O00200
- Q5T2B6
- Q9UNF9
Protein attributes for CUL2 Gene
- Size:
- 745 amino acids
- Molecular mass:
- 86983 Da
- Quaternary structure:
-
- Component of multiple ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes formed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and a variable substrate-specific adapter. Component of the ECS(VHL) or CBC(VHL) complex containing VHL. Component of the ECS(MED8) complex with the probable substrate recognition component MED8. Component of the ECS(LRR1) complex with the probable substrate recognition component LRR1. Component of a probable ECS E3 ubiquitin-protein ligase complex containing CUL2, RBX1, ELOB, ELOC and FEM1B. Part of an E3 ubiquitin-protein ligase complex including ZYG11B, CUL2 and Elongin BC. Part of an E3 ubiquitin-protein ligase complex including ZYG11BL, CUL2 and Elongin BC. Interacts with RBX1, RNF7, FEM1B and TIP120A/CAND1. Interacts with COPS2, and MED8. Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, ELOB and CUL2. Interacts with KLHDC10; which may be an E3 ubiquitin ligase complex substrate recognition component. Interacts (when neddylated) with ARIH1; leading to activate the E3 ligase activity of ARIH1 (PubMed:24076655, PubMed:27565346).
- (Microbial infection) Interacts with human respiratory syncytial virus (HRSV) protein NS1.
Protein Expression for CUL2 Gene
Post-translational modifications for CUL2 Gene
- Neddylated; which enhances the ubiquitination activity of ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes. CBC(VHL) complex formation seems to promote neddylation. Deneddylated via its interaction with the COP9 signalosome (CSN) complex (By similarity).
- Ubiquitination at posLast=1616
- Modification sites at PhosphoSitePlus
Other Protein References for CUL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CUL2
- Novus Biologicals Antibodies for CUL2
- Invitrogen Antibodies for CUL2 (AFLGC-CUL2)
- antibodies-online: Search results for 129 available Cullin 2 Antibodies ranked by validation data
- Compare Top Cullin 2 Antibodies
-
Recommended
- 95 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 63 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 27 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- GeneTex CUL2 Antibody for CUL2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CUL2
Protein Products
-
OriGene Purified Proteins for CUL2
- Search Origene for MassSpec and Protein Over-expression Lysates for CUL2
- Origene Custom Protein Services for CUL2
- Search GeneTex for Proteins for CUL2
-
Abcam proteins for CUL2
Assay Products
No data available for DME Specific Peptides for CUL2 Gene
Domains & Families for CUL2 Gene
Gene Families for CUL2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for CUL2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CUL2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13617- Family:
-
- Belongs to the cullin family.
Function for CUL2 Gene
Molecular function for CUL2 Gene
- UniProtKB/Swiss-Prot Function:
- Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the ECS complex depends on the substrate recognition component. ECS(VHL) mediates the ubiquitination of hypoxia-inducible factor (HIF).
- GENATLAS Biochemistry:
- cullin 2,complexing with VHL/elongin B and C to form an ubiquitin-ligase complex referred to VCB-CUL2(see VHL),putatively targetting certain proteins for degradation,not a major renal cell carcinoma,tumor suppressor gene,but maybe involved in other carcinomas,see TSG10
Phenotypes From GWAS Catalog for CUL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12504026 |
| GO:0031625 | ubiquitin protein ligase binding | IEA,IDA | 17636018 |
| GO:0061630 | contributes_to ubiquitin protein ligase activity | IBA | -- |
Phenotypes for CUL2 Gene
- GenomeRNAi human phenotypes for CUL2:
-
- G0/1 arrest
- Increased G1 DNA content
- Increased cell death HMECs cells
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability
- no effect
- Increased Cyt C expression
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased NF-kappaB reporter expression
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Increased cell number in S
- Increased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CUL2
-
CRISPR Products
-
OriGene CRISPR knockouts for CUL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CUL2
- genomics-online: gRNA clones - Search results for 120 available Cullin 2 gene related products
- Overview of 120 available Cullin 2 gene related products
- Applied Biological Materials CRISPR for CUL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CUL2
- GenScript: Design CRISPR guide RNA sequences for CUL2
miRNA for CUL2 Gene
- miRTarBase miRNAs that target CUL2
-
- hsa-mir-424-5p (MIRT005927)
- hsa-mir-30c-5p (MIRT007130)
- hsa-mir-93-3p (MIRT038756)
- hsa-mir-100-5p (MIRT048406)
- hsa-mir-99a-5p (MIRT048623)
- hsa-let-7b-5p (MIRT052315)
- hsa-mir-4326 (MIRT052839)
- hsa-mir-574-3p (MIRT053490)
- hsa-mir-3163 (MIRT126912)
- hsa-mir-1277-5p (MIRT509015)
- hsa-mir-190a-3p (MIRT509016)
- hsa-mir-656-3p (MIRT509017)
- hsa-mir-5011-5p (MIRT509018)
- hsa-mir-410-3p (MIRT509019)
- hsa-mir-1267 (MIRT558513)
- hsa-mir-195-5p (MIRT727914)
- hsa-mir-16-5p (MIRT727915)
- hsa-mir-15b-5p (MIRT727916)
- hsa-mir-15a-5p (MIRT727917)
- hsa-mir-195-3p (MIRT733836)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CUL2
- Browse OriGene Inhibitory RNA Products For CUL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CUL2
- genomics-online: shRNA clones - Search results for 120 available Cullin 2 gene related products
- Overview of 120 available Cullin 2 gene related products
Clone Products
-
OriGene ORF clones in human for CUL2
- RC203304
- RC203304L1
- RC203304L2
- RC203304L3
- RC203304L4
- RC231403
- RC231403L1
- RC231403L2
- RC231403L3
- RC231403L4
- RC231406
- RC231406L1
- RC231406L2
- RC231406L3
- RC231406L4
- RC233114
- RG203304
- RG231403
- RG231406
- RG233114
- RC203304L1V
- RC203304L2V
- RC203304L3V
- RC203304L4V
- RC231403L1V
- RC231403L2V
- RC231403L3V
- RC231403L4V
- RC231406L1V
- RC231406L2V
- RC231406L3V
- RC231406L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CUL2
- Addgene plasmids for CUL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CUL2
- Applied Biological Materials Clones for CUL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CUL2 Gene
Localization for CUL2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030891 | VCB complex | IEA | -- |
| GO:0031461 | cullin-RING ubiquitin ligase complex | IBA,IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CUL2 Gene
Pathways & Interactions for CUL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | TGF-Beta Pathway |
.57
|
.40
|
| 4 | HIF-1 signaling pathway | ||
| 5 | Pathways in cancer | ||
Pathways by source for CUL2 Gene
2 GeneTex pathways for CUL2 Gene
1 BioSystems pathway for CUL2 Gene
4 KEGG pathways for CUL2 Gene
3 Qiagen pathways for CUL2 Gene
UniProtKB/Swiss-Prot Q13617-CUL2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for CUL2 Gene
Selected Interacting proteins:
Q13617-CUL2_HUMAN
ENSP00000444856
for CUL2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CUL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | TAS | 8681378 |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
| GO:0007050 | cell cycle arrest | TAS | 8681378 |
| GO:0008285 | negative regulation of cell proliferation | TAS | 8681378 |
| GO:0016032 | viral process | IEA | -- |
No data available for SIGNOR curated interactions for CUL2 Gene
Transcripts for CUL2 Gene
mRNA/cDNA for CUL2 Gene
- (10) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (207) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374746 3903 bps (uc057sru.1)
- ENST00000374748 4312 bps (uc057srv.1)
- ENST00000374749 4208 bps (uc001ixv.4)
- ENST00000374751 4233 bps (uc001ixw.3)
- ENST00000374754 4440 bps (uc057srw.1)
Unigene Clusters for CUL2 Gene
- Cullin 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CUL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CUL2
- genomics-online: gRNA clones - Search results for 120 available Cullin 2 gene related products
- Overview of 120 available Cullin 2 gene related products
- Applied Biological Materials CRISPR for CUL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CUL2
- GenScript: Design CRISPR guide RNA sequences for CUL2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CUL2
- Browse OriGene Inhibitory RNA Products For CUL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CUL2
- genomics-online: shRNA clones - Search results for 120 available Cullin 2 gene related products
- Overview of 120 available Cullin 2 gene related products
Clone Products
-
OriGene ORF clones in human for CUL2
- RC203304
- RC203304L1
- RC203304L2
- RC203304L3
- RC203304L4
- RC231403
- RC231403L1
- RC231403L2
- RC231403L3
- RC231403L4
- RC231406
- RC231406L1
- RC231406L2
- RC231406L3
- RC231406L4
- RC233114
- RG203304
- RG231403
- RG231406
- RG233114
- RC203304L1V
- RC203304L2V
- RC203304L3V
- RC203304L4V
- RC231403L1V
- RC231403L2V
- RC231403L3V
- RC231403L4V
- RC231406L1V
- RC231406L2V
- RC231406L3V
- RC231406L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CUL2
- Addgene plasmids for CUL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CUL2
- Applied Biological Materials Clones for CUL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CUL2 Gene
This gene is overexpressed in Lymph node (12.6) and Peripheral blood mononuclear cells (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CUL2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CUL2 Gene:
CUL2SOURCE GeneReport for Unigene cluster for CUL2 Gene:
Hs.82919Evidence on tissue expression from TISSUES for CUL2 Gene
- Nervous system(4.7)
- Kidney(4.4)
- Skin(4.2)
Primer Products
-
OriGene qPCR primer pairs for CUL2
-
OriGene qPCR primer pairs and template standards for CUL2
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CUL2 Gene
Orthologs for CUL2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CUL2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CUL2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CUL2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CUL2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CUL2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cul2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cul2 33 |
|
||
| chicken (Gallus gallus) |
Aves | CUL2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CUL2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cul2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69167 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cul2 34 33 |
|
OneToOne | |
| wufj48a06 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.763 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003605 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cul-2 34 33 |
|
OneToOne | |
| cul-2 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | cul-2 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC53 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2270 34 |
|
OneToOne |
- Species where no ortholog for CUL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- 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)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
Evolution for CUL2 Gene
- ENSEMBL:
- Gene Tree for CUL2 (if available)
- TreeFam:
- Gene Tree for CUL2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CUL2: view image
Paralogs for CUL2 Gene
(5) SIMAP similar genes for CUL2 Gene using alignment to 5 proteins:
- CUL2_HUMAN
- Q5T2B4_HUMAN
- Q5T2B5_HUMAN
- Q5T2B7_HUMAN
- R4GNH8_HUMAN
Pseudogenes.org Pseudogenes for CUL2 Gene
Variants for CUL2 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000047087 | -- | 35,031,626(-) | T/C | intron_variant | |
| rs1000062757 | -- | 35,050,942(-) | T/C | intron_variant | |
| rs1000069706 | -- | 35,126,713(-) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000085188 | -- | 35,093,015(-) | A/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000097402 | -- | 35,091,750(-) | A/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv202e212 | CNV | gain | 25503493 |
| dgv703n100 | CNV | gain | 25217958 |
| dgv705n100 | CNV | gain | 25217958 |
| dgv706n100 | CNV | gain | 25217958 |
| esv2677225 | CNV | deletion | 23128226 |
| esv3576372 | CNV | gain | 25503493 |
| esv3622891 | CNV | loss | 21293372 |
| nsv1039051 | CNV | gain | 25217958 |
| nsv1133987 | CNV | deletion | 24896259 |
| nsv1161937 | CNV | duplication | 26073780 |
| nsv466860 | CNV | gain | 19166990 |
| nsv466862 | CNV | gain | 19166990 |
| nsv466869 | CNV | gain | 19166990 |
| nsv466870 | CNV | loss | 19166990 |
| nsv470931 | CNV | gain | 18288195 |
| nsv507549 | OTHER | sequence alteration | 20534489 |
| nsv525060 | CNV | gain | 19592680 |
| nsv550391 | CNV | gain | 21841781 |
| nsv550398 | CNV | gain | 21841781 |
| nsv550401 | CNV | gain | 21841781 |
| nsv550402 | CNV | gain | 21841781 |
| nsv975796 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
8.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.97;
19.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CUL2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CUL2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CUL2 Gene
Disorders for CUL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| von hippel-lindau syndrome |
|
|
| familial renal papillary carcinoma |
|
|
Search CUL2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CUL2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CUL2 Gene
Publications for CUL2 Gene
- Mutational analysis of hypoxia-related genes HIF1alpha and CUL2 in common human cancers. (PMID: 20078552) Park SW … Lee SH (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2009) 3 22 44 58
- Identification of NEDD8-conjugation site in human cullin-2. (PMID: 10092517) Wada H … Kamitani T (Biochemical and biophysical research communications 1999) 3 4 22 58
- cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family. (PMID: 8681378) Kipreos ET … Hedgecock EM (Cell 1996) 2 3 4 58
- TRIAD1 and HHARI bind to and are activated by distinct neddylated Cullin-RING ligase complexes. (PMID: 24076655) Kelsall IR … Alpi AF (The EMBO journal 2013) 3 4 58
- The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PMID: 22286099) Foxler DE … Sharp TV (Nature cell biology 2012) 3 4 58
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