Gene Gene information from NCBI Gene database.
Entrez ID 8453
Gene name Cullin 2
Gene symbol CUL2
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p11.21
miRNA miRNA information provided by mirtarbase database.
251
miRTarBase ID miRNA Experiments Reference
MIRT005927 hsa-miR-424-5p ChIP-seqLuciferase reporter assayMicroarrayqRT-PCRWestern blot 20972335
MIRT007130 hsa-miR-30c-5p qRT-PCR 23418453
MIRT052315 hsa-let-7b-5p CLASH 23622248
MIRT048623 hsa-miR-99a-5p CLASH 23622248
MIRT048406 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 8681378
GO:0004842 Function Ubiquitin-protein transferase activity TAS
GO:0005515 Function Protein binding IPI 12504026, 12609982, 15601820, 17183367, 17304241, 18323857, 18775313, 18826954, 19327355, 21145461, 21778237, 22190034, 22466964, 22939624, 23401859, 23563313, 24192928, 24402281, 25661653, 26906416, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603135 2552 ENSG00000108094
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13617
Protein name Cullin-2 (CUL-2)
Protein 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 (PubMed:11384984, PubMed:26138980, PubMed:29775578, PubMed:29779948,
PDB 4WQO , 5N4W , 6R6H , 6R7F , 6R7H , 6R7I , 6R7N , 7PLO , 8IJ1 , 8JAL , 8JAQ , 8JAR , 8JAS , 8JAU , 8JAV , 8JE1 , 8JE2 , 8PQL , 8Q7R , 8QU8 , 8R5H , 8RWZ , 8RX0 , 8WDK , 8WQA , 8WQB , 8WQC , 8WQE , 8WQF , 8WQG , 8WQH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00888 Cullin 14 644 Cullin family Family
PF10557 Cullin_Nedd8 675 737 Cullin protein neddylation domain Domain
Sequence
Sequence length 745
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  HIF-1 signaling pathway
Ubiquitin mediated proteolysis
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Moyamoya angiopathy Likely pathogenic rs2084869461 RCV004704488
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 20078552
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20712528
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 29475926
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10487688
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 39519104 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20680678, 31374029
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31374029 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27153550 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 20078552
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25540389 Associate
★☆☆☆☆
Found in Text Mining only