Gene Gene information from NCBI Gene database.
Entrez ID 8452
Gene name Cullin 3
Gene symbol CUL3
Synonyms (NCBI Gene)
CUL-3NEDAUSPHA2E
Chromosome 2
Chromosome location 2q36.2
Summary 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.
19
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.
467
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
128
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603136 2553 ENSG00000036257
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
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
Abnormal cardiovascular system morphology Likely pathogenic; Pathogenic rs1692335353 RCV002463785
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant pseudohypoaldosteronism type 1 Likely pathogenic; Pathogenic rs1553535841 RCV000987041
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder Pathogenic rs2106220962 RCV002272969
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CUL3-related disorder Pathogenic; Likely pathogenic rs2106223668, rs199469660, rs2470001056, rs1692588792, rs2106196630, rs2106196612 RCV005225430
RCV004529127
RCV003402414
RCV003391442
RCV003420947
View all (1 more)
★★★★★
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Conflicting classifications of pathogenicity; Uncertain significance ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31463796
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 28924174
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33754896 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anorexia Nervosa Anorexia nervosa Pubtator 24514567 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety disorder Pubtator 32027827 Associate
★☆☆☆☆
Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA Gordon syndrome BEFREE 23683032
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 36471356 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 28924174
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27824329, 37026922 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31780330
★★☆☆☆
Found in Text Mining + Unknown/Other Associations