Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8450
Gene name Gene Name - the full gene name approved by the HGNC.
Cullin 4B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CUL4B
Synonyms (NCBI Gene) Gene synonyms aliases
CUL-4B, MRXHF2, MRXS15, MRXSC, SFM2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 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 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300304 2555 ENSG00000158290
Protein
UniProt ID 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
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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
Mental retardation intellectual disability rs878853152 N/A
Mental Retardation, X-Linked X-linked intellectual disability Cabezas type rs1057519396, rs1085307760, rs1556220623, rs1556206910, rs1569389364, rs905353542, rs121434615, rs1602577238, rs121434616, rs786200913, rs797044862 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
pettigrew syndrome Pettigrew syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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