Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8452
Gene name Gene Name - the full gene name approved by the HGNC.
Cullin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CUL3
Synonyms (NCBI Gene) Gene synonyms aliases
CUL-3, NEDAUS, PHA2E
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase com
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199469649 A>C Pathogenic Intron variant
rs199469650 T>C Pathogenic Intron variant
rs199469651 A>C Pathogenic Intron variant
rs199469652 A>T Pathogenic Intron variant
rs199469653 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004141 hsa-miR-192-5p Microarray 16822819
MIRT032239 hsa-let-7b-5p Proteomics 18668040
MIRT048703 hsa-miR-99a-5p CLASH 23622248
MIRT047577 hsa-miR-10a-5p CLASH 23622248
MIRT040752 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 8681378
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000209 Process Protein polyubiquitination IDA 14528312, 19261606
GO:0000209 Process Protein polyubiquitination IEA
GO:0000209 Process Protein polyubiquitination IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603136 2553 ENSG00000036257
Protein
UniProt ID Q13618
Protein name Cullin-3 (CUL-3)
Protein function Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to m
PDB 2MYL , 2MYM , 4AP2 , 4APF , 4EOZ , 4HXI , 5NLB , 6I2M , 8GQ6 , 8H33 , 8H34 , 8H35 , 8H36 , 8H37 , 8H38 , 8H3A , 8H3F , 8H3Q , 8H3R , 8I79 , 8K8T , 8K9I , 8KHP , 8U80 , 8U81 , 8U82 , 8U83 , 8U84
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00888 Cullin 34 665 Cullin family Family
PF10557 Cullin_Nedd8 698 760 Cullin protein neddylation domain Domain
Tissue specificity TISSUE SPECIFICITY: Brain, spermatozoa, and testis (at protein level). Widely expressed. {ECO:0000269|PubMed:28395323}.
Sequence
Sequence length 768
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Hedgehog signaling pathway
  Degradation of DVL
Hedgehog 'on' state
Regulation of RAS by GAPs
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pseudohypoaldosteronism pseudohypoaldosteronism type 2e, Pseudohypoaldosteronism type 2A, Autosomal dominant pseudohypoaldosteronism type 1 rs199469653, rs1553523940, rs199469656, rs1553535841, rs199469652, rs199469651, rs199469655, rs199469654, rs199469658, rs199469657, rs199469650, rs199469659, rs199469660, rs199469649, rs199469661
View all (1 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 31828882
Adenocarcinoma of Lung Associate 34617407
Alzheimer Disease Associate 33754896
Anorexia Nervosa Associate 24514567
Anxiety Associate 32027827
Asthenozoospermia Associate 36471356
Autism Spectrum Disorder Associate 27824329, 37026922
Autistic Disorder Associate 27716508, 27824329, 37026922
Breast Neoplasms Associate 23559371, 23875900, 35589867
Breast Neoplasms Stimulate 26544623