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 is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication f... See more...

Aliases for CUL4B Gene

Aliases for CUL4B Gene

  • Cullin 4B 2 3 5
  • Cullin-4B 3 4
  • CUL-4B 3 4
  • KIAA0695 4
  • MRXHF2 3
  • MRXS15 3
  • MRXSC 3
  • CUL4B 5
  • SFM2 3

External Ids for CUL4B Gene

Previous GeneCards Identifiers for CUL4B Gene

  • GC0XM114476
  • GC0XM116644
  • GC0XM117633
  • GC0XM118412
  • GC0XM119440
  • GC0XM119543
  • GC0XM119658
  • GC0XM109109

Summaries for CUL4B Gene

Entrez Gene Summary for CUL4B 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 is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CUL4B Gene

CUL4B (Cullin 4B) is a Protein Coding gene. Diseases associated with CUL4B include Mental Retardation, X-Linked, Syndromic, Cabezas Type and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and damaged DNA binding. An important paralog of this gene is CUL4A.

UniProtKB/Swiss-Prot Summary for CUL4B Gene

  • Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E, and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8. With CUL4A, contributes to ribosome biogenesis (PubMed:26711351).

Gene Wiki entry for CUL4B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CUL4B Gene

Genomics for CUL4B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CUL4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ120558 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.3 +43.4 43418 6.9 MYC IKZF1 ZNF600 ZNF592 ZNF10 POLR2A ZIC2 ZBTB10 YY1 SMAD5 lnc-C1GALT1C1-3 MCTS1 CUL4B C1GALT1C1 UPF3B LINC01402 SNODB1682 LAMP2
GH0XJ120603 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.7 -727 3.2 MYC ZNF580 ZNF592 POLR2A CEBPA ATF3 ZNF10 YY1 CEBPB SMAD5 CUL4B HSALNG0139858 MCTS1 NKAPP1 C1GALT1C1 RF00017-8042 HSALNG0139856
GH0XJ120575 Promoter 0.8 EPDnew 250.3 +28.3 28289 0.1 ATF2 ZNF316 ATF1 SMARCA4 MAFG ZBTB21 L3MBTL2 PRDM4 CREM CREB1 lnc-C1GALT1C1-2 CUL4B HSALNG0139854 MCTS1 LAMP2
GH0XJ120576 Promoter 0.5 EPDnew 250.3 +28.5 28522 0.1 PKNOX1 ATF1 lnc-C1GALT1C1-2 CUL4B HSALNG0139854 MCTS1 LAMP2
GH0XJ120243 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 30.1 +359.3 359274 3.2 BCLAF1 SP1 ZNF207 MYC ZNF600 NCOR1 SIX5 ZNF580 CEBPA ZNF10 NKAPP1 LINC01402 lnc-RHOXF1-3-003 CUL4B EEF1A1P30 NKAP RHOXF1-AS1 STEEP1 RHOXF1 ZBTB33
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CUL4B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CUL4B

Top Transcription factor binding sites by QIAGEN in the CUL4B gene promoter:
  • N-Myc
  • Nkx3-1
  • p300
  • p53
  • Sp1
  • USF-1
  • USF1
  • YY1

Genomic Locations for CUL4B Gene

Latest Assembly
chrX:120,505,920-120,604,074
(GRCh38/hg38)
Size:
98,155 bases
Orientation:
Minus strand

Previous Assembly
chrX:119,657,713-119,709,387
(GRCh37/hg19 by Entrez Gene)
Size:
51,675 bases
Orientation:
Minus strand

chrX:119,658,464-119,709,649
(GRCh37/hg19 by Ensembl)
Size:
51,186 bases
Orientation:
Minus strand

Genomic View for CUL4B Gene

Genes around CUL4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CUL4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CUL4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CUL4B Gene

Proteins for CUL4B Gene

  • Protein details for CUL4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13620-CUL4B_HUMAN
    Recommended name:
    Cullin-4B
    Protein Accession:
    Q13620
    Secondary Accessions:
    • B1APK5
    • B3KVX4
    • B7Z5K8
    • Q6PIE4
    • Q6UP07
    • Q7Z673
    • Q9BY37
    • Q9UEB7
    • Q9UED7

    Protein attributes for CUL4B Gene

    Size:
    913 amino acids
    Molecular mass:
    103982 Da
    Quaternary structure:
    • Component of multiple DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes that seem to be formed of DDB1, CUL4A or CUL4B, RBX1 and a variable substrate recognition component which seems to belong to a protein family described as DCAF (Ddb1- and Cul4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Component of the DCX(DTL) complex with the putative substrate recognition component DTL. Component of the DCX(DDB2) complex with the putative substrate recognition component DDB2. Part of a complex with RBX1 and TIP120A/CAND1. Interacts with RBX1 GRWD1, MLST8, SMU1, TLE2, TLE3, DCAF1, DDA1, DCAF6, DCAF17, DDB2, DCAF8, TIP120A/CAND1 and TMEM113. Interacts with cyclin E and with importins alpha-1 (KPNA2), alpha-3 (KPNA4), alpha-5 (KPNA1) and beta-1 (KPNB1). May interact with WDR26, WDR51B, SNRNP40, WDR61, WDR76 and WDR5. Interacts (unneddylated form) with DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5; these interactions promote the cullin neddylation (PubMed:26906416, PubMed:23201271).
    SequenceCaution:
    • Sequence=AAB67315.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAK16812.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CUL4B Gene

    Alternative splice isoforms for CUL4B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CUL4B Gene

Post-translational modifications for CUL4B Gene

  • Neddylated. Deneddylated via its interaction with the COP9 signalosome (CSN) complex.
  • Ubiquitination at Lys258, Lys190, Lys403, Lys513, Lys600, Lys709, and Lys862
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CUL4B Gene

Domains & Families for CUL4B Gene

Gene Families for CUL4B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CUL4B Gene

GenScript: Design optimal peptide antigens:
  • Cullin-4B (CUL4B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13620

UniProtKB/Swiss-Prot:

CUL4B_HUMAN :
  • Belongs to the cullin family.
Family:
  • Belongs to the cullin family.
genes like me logo Genes that share domains with CUL4B: view

Function for CUL4B Gene

Molecular function for CUL4B Gene

UniProtKB/Swiss-Prot Function:
Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E, and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8. With CUL4A, contributes to ribosome biogenesis (PubMed:26711351).

Phenotypes From GWAS Catalog for CUL4B Gene

Gene Ontology (GO) - Molecular Function for CUL4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 contributes_to damaged DNA binding IDA 22334663
GO:0004842 ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IPI 12609982
GO:0031625 ubiquitin protein ligase binding IBA 21873635
genes like me logo Genes that share ontologies with CUL4B: view
genes like me logo Genes that share phenotypes with CUL4B: view

Human Phenotype Ontology for CUL4B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CUL4B Gene

MGI Knock Outs for CUL4B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CUL4B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CUL4B Gene

Localization for CUL4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CUL4B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CUL4B gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CUL4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0019005 SCF ubiquitin ligase complex IBA 21873635
GO:0031461 cullin-RING ubiquitin ligase complex IBA 21873635
genes like me logo Genes that share ontologies with CUL4B: view

Pathways & Interactions for CUL4B Gene

genes like me logo Genes that share pathways with CUL4B: view

Pathways by source for CUL4B Gene

UniProtKB/Swiss-Prot Q13620-CUL4B_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for CUL4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle NAS 8681378
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with CUL4B: view

No data available for SIGNOR curated interactions for CUL4B Gene

Drugs & Compounds for CUL4B Gene

No Compound Related Data Available

Transcripts for CUL4B Gene

mRNA/cDNA for CUL4B Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
40 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CUL4B

Alternative Splicing Database (ASD) splice patterns (SP) for CUL4B Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5: - -
SP6: -
SP7: - -
SP8:
SP9:

ExUns: 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CUL4B Gene

GeneLoc Exon Structure for
CUL4B

Expression for CUL4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CUL4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CUL4B Gene

This gene is overexpressed in Bone (38.5) and Lymph node (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CUL4B Gene



Protein tissue co-expression partners for CUL4B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CUL4B

SOURCE GeneReport for Unigene cluster for CUL4B Gene:

Hs.102914

Evidence on tissue expression from TISSUES for CUL4B Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(2.5)
  • Intestine(2.3)
  • Heart(2.2)
  • Skin(2.2)
  • Lung(2.2)
  • Spleen(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CUL4B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
Abdomen:
  • abdominal wall
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CUL4B: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CUL4B Gene

Orthologs for CUL4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CUL4B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CUL4B 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CUL4B 29 30
  • 96.52 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CUL4B 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CUL4B 29 30
  • 94.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cul4b 29
  • 92.28 (n)
Mouse
(Mus musculus)
Mammalia Cul4b 29 16 30
  • 92.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CUL4B 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CUL4B 29 30
  • 82.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CUL4B 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cul4b 29
  • 81.39 (n)
Str.6401 29
Zebrafish
(Danio rerio)
Actinopterygii cul4b 29 30
  • 75.62 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta cul-4 31
  • 69 (a)
Cul-4 29 30
  • 60.65 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007727 29
  • 62.77 (n)
Worm
(Caenorhabditis elegans)
Secernentea cul-4 30 31
  • 31 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CUL4 29
  • 59.12 (n)
Soybean
(Glycine max)
eudicotyledons Gma.6896 29
Barley
(Hordeum vulgare)
Liliopsida Hv.5410 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9784 30
  • 54 (a)
OneToMany
Species where no ortholog for CUL4B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CUL4B Gene

ENSEMBL:
Gene Tree for CUL4B (if available)
TreeFam:
Gene Tree for CUL4B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CUL4B: view image
Alliance of Genome Resources:
Additional Orthologs for CUL4B

Paralogs for CUL4B Gene

Paralogs for CUL4B Gene

(4) SIMAP similar genes for CUL4B Gene using alignment to 3 proteins:

  • CUL4B_HUMAN
  • A6NE76_HUMAN
  • K4DI93_HUMAN
genes like me logo Genes that share paralogs with CUL4B: view

Variants for CUL4B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CUL4B Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1013077 Likely Pathogenic: not provided 120,546,617(-) C/CT
NM_001079872.2(CUL4B):c.777-2dup
SPLICE_ACCEPTOR
1029012 Uncertain Significance: Syndromic X-linked mental retardation, Cabezas type 120,540,418(-) A/G
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)
MISSENSE
1029013 Uncertain Significance: Syndromic X-linked mental retardation, Cabezas type 120,560,596(-) C/T
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr)
MISSENSE
1031339 Uncertain Significance: Syndromic X-linked mental retardation, Cabezas type 120,540,408(-) A/C
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)
MISSENSE
852193 Uncertain Significance: Syndromic X-linked mental retardation, Cabezas type 120,539,271(-) A/G
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CUL4B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CUL4B Gene

Variant ID Type Subtype PubMed ID
esv3574443 CNV loss 25503493
esv3577192 CNV gain 25503493
esv3577193 CNV gain 25503493

Variation tolerance for CUL4B Gene

Residual Variation Intolerance Score: 7.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CUL4B Gene

Human Gene Mutation Database (HGMD)
CUL4B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CUL4B
Leiden Open Variation Database (LOVD)
CUL4B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CUL4B Gene

Disorders for CUL4B Gene

MalaCards: The human disease database

(10) MalaCards diseases for CUL4B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CUL4B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CUL4B_HUMAN
  • Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]: A syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span. {ECO:0000269 PubMed:17236139, ECO:0000269 PubMed:17273978, ECO:0000269 PubMed:19377476, ECO:0000269 PubMed:20002452}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CUL4B

genes like me logo Genes that share disorders with CUL4B: view

No data available for Genatlas for CUL4B Gene

Publications for CUL4B Gene

  1. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PMID: 18593899) Guerrero-Santoro J … Rapić-Otrin V (Cancer research 2008) 3 4 22
  2. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. (PMID: 17273978) Zou Y … Gong Y (American journal of human genetics 2007) 3 4 72
  3. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. (PMID: 17236139) Tarpey PS … Partington M (American journal of human genetics 2007) 3 4 72
  4. cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family. (PMID: 8681378) Kipreos ET … Hedgecock EM (Cell 1996) 2 3 4
  5. Characterization of the mammalian family of DCN-type NEDD8 E3 ligases. (PMID: 26906416) Keuss MJ … Kurz T (Journal of cell science 2016) 3 4

Products for CUL4B Gene

Sources for CUL4B Gene