Gene Gene information from NCBI Gene database.
Entrez ID 8450
Gene name Cullin 4B
Gene symbol CUL4B
Synonyms (NCBI Gene)
CUL-4BMRXHF2MRXS15MRXSCSFM2
Chromosome X
Chromosome location Xq24
Summary This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs121434615 G>A Pathogenic Coding sequence variant, missense variant
rs121434616 G>A Pathogenic Coding sequence variant, stop gained
rs754330779 GGAGGAGGA>-,GGA,GGAGGA,GGAGGAGGAGGA,GGAGGAGGAGGAGGA Likely-pathogenic, likely-benign Genic upstream transcript variant, inframe deletion, coding sequence variant, inframe insertion, upstream transcript variant
rs766506778 C>T Likely-pathogenic Splice acceptor variant
rs786200913 T>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
443
miRTarBase ID miRNA Experiments Reference
MIRT001556 hsa-miR-155-5p pSILAC 18668040
MIRT001556 hsa-miR-155-5p Proteomics;Other 18668040
MIRT023489 hsa-miR-1-3p Proteomics 18668040
MIRT046192 hsa-miR-27b-3p CLASH 23622248
MIRT037054 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle NAS 8681378
GO:0000209 Process Protein polyubiquitination IEA
GO:0003684 Function Damaged DNA binding IDA 22334663
GO:0005515 Function Protein binding IPI 12609982, 16949367, 16964240, 17041588, 18775313, 19651607, 21145461, 21778237, 22466964, 22939624, 23238014, 25036637, 25435324, 25910212, 26496610, 26906416, 30945288, 33961781, 35271311, 35512704
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
300304 2555 ENSG00000158290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13620
Protein name Cullin-4B (CUL-4B)
Protein function Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14578910, PubMed:16322693, PubMed:16678110, PubMed:18593899, Pu
PDB 2DO7 , 4A0C , 4A0L , 4A64 , 8EI1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00888 Cullin 217 814 Cullin family Family
PF10557 Cullin_Nedd8 845 905 Cullin protein neddylation domain Domain
Sequence
MMSQSSGSGDGNDDEATTSKDGGFSSPSPSAAAAAQEVRSATDGNTSTTPPTSAKKRKLN
SSSSSSSNSSNEREDFDSTSSSSSTPPLQPRDSASPSTSSFCLGVSVAASSHVPIQKKLR
FEDTLEFVGFDAKMAEESSSSSSSSSPTAATSQQQQLKNKSILISSVASVHHANGLAKSS
TTVSSFANSKPGSAKKLVIKNFKDKPKLPENYTDETWQKLKEAVEAIQNSTSIKYNLEEL
YQAVENLCSYKISANLYKQLRQICEDHIKAQIHQFREDSLDSVLFLKKIDRCWQNHCRQM
IMIRSIFLFLDRTYVLQNSMLPSIWDMGLELFRAHIISDQKVQNKTIDGILLLIERERNG
EAIDRSLLRSLLSMLSDLQIYQDSFEQRFLEETNRLYAAEGQKLMQEREVPEYLHHVNKR
LEEEADRLITYLDQTTQKSLIATVEKQLLGEHLTAILQKGLNNLLDENRIQDLSLLYQLF
SRVRGGVQVLLQQWIEYIKAFGSTIVINPEKDKTMVQELLDFKDKVDHIIDICFLKNEKF
INAMKEAFETFINKRPNKPAELIAKYVDSKLRAGNKEATDEELEKMLDKIMIIFRFIYGK
DVFEAFYKKDLAKRLLVGKSASVDAEKSMLSKLKHECGAAFTSKLEGMFKDMELSKDIMI
QFKQYMQNQNVPGNIELTVNILTMGYWPTYVPMEVHLPPEMVKLQEIFKTFYLGKHSGRK
LQWQSTLGHCVLKAEFKEGKKELQVSLFQTLVLLMFNEGEEFSLEEIKQATGIEDGELRR
TLQSLACGKARVLAKNPKGKDIEDGDKFICNDDF
KHKLFRIKINQIQMKETVEEQASTTE
RVFQDRQYQIDAAIVRIMKMRKTLSHNLLVSEVYNQLKFPVKPADLKKRIESLIDRDYME
RDKEN
PNQYNYIA
Sequence length 913
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleotide excision repair
Ubiquitin mediated proteolysis
Human immunodeficiency virus 1 infection
  Recognition of DNA damage by PCNA-containing replication complex
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Neddylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
242
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Pathogenic rs121434616 RCV000415116
CUL4B-related disorder Pathogenic rs1602567594 RCV004545812
CUL4B-related X-linked intellectual disability Pathogenic rs797044862 RCV001795310
Global developmental delay Pathogenic rs121434616 RCV000415116
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs186860428 RCV005919178
Familial cancer of breast Benign rs183114462 RCV005896624
Familial pancreatic carcinoma Likely benign rs186860428 RCV005919179
Gastric cancer Benign rs2301636 RCV005905593
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ATR X syndrome Associate 25385192
Brain Diseases Associate 28817111
Breast Neoplasms Associate 24884718, 31374029
Breast Neoplasms Stimulate 36539038
Carcinoma Hepatocellular Associate 27236156
Carcinoma Non Small Cell Lung Associate 27656838, 31407591, 34002487
Carcinoma Renal Cell Associate 33022894
Colitis Associated Neoplasms Associate 31972160
Colorectal Neoplasms Associate 29863249
Congenital Abnormalities Associate 36849876