KDM2B Gene (Protein Coding)

Lysine Demethylase 2B

GC12M121402
GIFtS:
42
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-... See more...

Aliases for KDM2B Gene

Aliases for KDM2B Gene

  • Lysine Demethylase 2B 2 3 5
  • F-Box And Leucine-Rich Repeat Protein 10 2 3 4
  • JHDM1B 2 3 4
  • CXXC2 2 3 4
  • PCCX2 2 3 4
  • JmjC Domain-Containing Histone Demethylation Protein 1B 3 4
  • Jumonji C Domain-Containing Histone Demethylase 1B 2 3
  • [Histone-H3]-Lysine-36 Demethylase 1B 3 4
  • Lysine (K)-Specific Demethylase 2B 2 3
  • Protein-Containing CXXC Domain 2 3 4
  • CXXC-Type Zinc Finger Protein 2 3 4
  • Lysine-Specific Demethylase 2B 3 4
  • F-Box/LRR-Repeat Protein 10 3 4
  • F-Box Protein FBL10 3 4
  • EC 1.14.11.27 4 51
  • FBXL10 3 4
  • Fbl10 2 3
  • Jumonji Domain-Containing EMSY-Interactor Methyltransferase Motif Protein 4
  • JEMMA (Jumonji Domain, EMSY-Interactor, Methyltransferase Motif) Protein 3
  • Protein JEMMA 4
  • KDM2B 5
  • FBL10 4
  • NDY1 4

External Ids for KDM2B Gene

Previous HGNC Symbols for KDM2B Gene

  • FBXL10

Previous GeneCards Identifiers for KDM2B Gene

  • GC12M120351
  • GC12M121866
  • GC12M118876
  • GC12M121429

Summaries for KDM2B Gene

Entrez Gene Summary for KDM2B Gene

  • This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for KDM2B Gene

KDM2B (Lysine Demethylase 2B) is a Protein Coding gene. Diseases associated with KDM2B include Cohen Syndrome and West Syndrome. Among its related pathways are Chromatin Regulation / Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include rRNA binding and histone demethylase activity. An important paralog of this gene is KDM2A.

UniProtKB/Swiss-Prot Summary for KDM2B Gene

  • Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation (PubMed:16362057, PubMed:17994099). May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable).

Additional gene information for KDM2B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KDM2B Gene

Genomics for KDM2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KDM2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KDM2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KDM2B

Top Transcription factor binding sites by QIAGEN in the KDM2B gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for KDM2B Gene

Latest Assembly
chr12:121,402,288-121,582,268
(GRCh38/hg38)
Size:
179,981 bases
Orientation:
Minus strand

Previous Assembly
chr12:121,866,899-122,018,928
(GRCh37/hg19 by Entrez Gene)
Size:
152,030 bases
Orientation:
Minus strand

chr12:121,866,900-122,018,920
(GRCh37/hg19 by Ensembl)
Size:
152,021 bases
Orientation:
Minus strand

Genomic View for KDM2B Gene

Genes around KDM2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDM2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDM2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KDM2B Gene

Proteins for KDM2B Gene

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  • Protein details for KDM2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHM5-KDM2B_HUMAN
    Recommended name:
    Lysine-specific demethylase 2B
    Protein Accession:
    Q8NHM5
    Secondary Accessions:
    • A8MRS1
    • Q1RLM7
    • Q8NCI2
    • Q96HC7
    • Q96SL0
    • Q96T03
    • Q9NS96
    • Q9UF75

    Protein attributes for KDM2B Gene

    Size:
    1336 amino acids
    Molecular mass:
    152615 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with SKP1, forming heterodimers (PubMed:27568929). The heterodimeric KDM2B-SKP1 complex interacts with the PCGF1-BCORL1 heterodimeric complex to form a homotetrameric polycomb repression complex 1 (PRC1.1) (PubMed:27568929). Directly interacts with CUL1. The SKP1-KDM2B complex interacts with UBB (PubMed:30033217).
    SequenceCaution:
    • Sequence=AAH08735.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55112.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55301.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11159.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KDM2B Gene

    Alternative splice isoforms for KDM2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KDM2B Gene

Protein Expression for KDM2B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for KDM2B Gene

Q8NHM5:
  • IPSGWIHAV
  • GTSVWYH
  • GLGIKMP
  • CQRIELKQG
  • KFRYPFYYEMCWYVLERYV
  • TDFHIDF
  • ELPNCWECPKC
  • WCCDKRLWT
  • DNRSKLRN
  • IHAVYTP
  • DVMDVNTQK

Post-translational modifications for KDM2B Gene

  • Ubiquitination at Lys147
  • Modification sites at PhosphoSitePlus

Other Protein References for KDM2B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for KDM2B Gene

Gene Families for KDM2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for KDM2B Gene

InterPro:
Blocks:
  • Transcription factor jumonji, jmjC
  • Zn-finger, CXXC type
ProtoNet:

Suggested Antigen Peptide Sequences for KDM2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45399 fis, clone BRHIP3028246, highly similar to JmjC domain-containing histone demethylation protein 1B (EC 1.14.11.-) (A8MRS1_HUMAN)
  • cDNA FLJ55590, highly similar to JmjC domain-containing histone demethylation protein 1B (EC 1.14.11.-) (B4DSN4_HUMAN)
  • [Histone-H3]-lysine-36 demethylase 1B (KDM2B_HUMAN)
  • FBXL10 protein (Q1RLM6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHM5

UniProtKB/Swiss-Prot:

KDM2B_HUMAN :
  • The LRR repeats are required for the interaction with the PCGF1-BCORL1 heterodimeric complex.
  • Belongs to the JHDM1 histone demethylase family.
Domain:
  • The LRR repeats are required for the interaction with the PCGF1-BCORL1 heterodimeric complex.
  • The JmjC domain mediates demethylation activity (PubMed:17994099). It is also required for repression of ribosomal RNA genes (PubMed:17994099).
  • The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
  • The F-box domain mediates interaction with UBB.
Family:
  • Belongs to the JHDM1 histone demethylase family.
genes like me logo Genes that share domains with KDM2B: view

Function for KDM2B Gene

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Molecular function for KDM2B Gene

UniProtKB/Swiss-Prot Function:
Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation (PubMed:16362057, PubMed:17994099). May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:42032, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9787, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61976; EC=1.14.11.27; Evidence={ECO:0000269|PubMed:16362057, ECO:0000269|PubMed:26237645};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Histone demethylase activity is inhibited by fumarate.

Enzyme Numbers (IUBMB) for KDM2B Gene

Phenotypes From GWAS Catalog for KDM2B Gene

Gene Ontology (GO) - Molecular Function for KDM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding NAS --
GO:0003712 transcription coregulator activity IBA 21873635
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 16943429
genes like me logo Genes that share ontologies with KDM2B: view
genes like me logo Genes that share phenotypes with KDM2B: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KDM2B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KDM2B Gene

Localization for KDM2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDM2B Gene

Nucleus, nucleolus. Nucleus. Chromosome.

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 KDM2B gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KDM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0005634 nucleus NAS --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with KDM2B: view

Pathways & Interactions for KDM2B Gene

genes like me logo Genes that share pathways with KDM2B: view

Pathways by source for KDM2B Gene

1 Cell Signaling Technology pathway for KDM2B Gene
1 GeneTex pathway for KDM2B Gene

SIGNOR curated interactions for KDM2B Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for KDM2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006482 protein demethylation IBA 21873635
GO:0007283 spermatogenesis ISS --
genes like me logo Genes that share ontologies with KDM2B: view

Drugs & Compounds for KDM2B Gene

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(10) Drugs for KDM2B Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Formaldehyde Approved, Vet_approved Pharma 152
Oxygen Approved, Vet_approved Pharma 0
L-Lysine Approved Nutra 0
Succinic acid Approved Nutra 0

(4) ApexBio Compounds for KDM2B Gene

Compound Action Cas Number
IOX 1 5852-78-8
ML324 JMJD2 demethylase inhibitor, potent and cell-permeable 1222800-79-4
SP2509 Demethylase 1 (LSD1) antagonist, novel Lysine-specific 1423715-09-6
Tranylcypromine hydrochloride 1986-47-6
genes like me logo Genes that share compounds with KDM2B: view

Drug products for research

Transcripts for KDM2B Gene

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mRNA/cDNA for KDM2B Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
19 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 KDM2B

Alternative Splicing Database (ASD) splice patterns (SP) for KDM2B Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1:
SP2:
SP3:
SP4:
SP5: - - - - -
SP6: - - - -
SP7: -
SP8: - - -
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14: -
SP15: -

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c · 32d
SP1: - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for KDM2B Gene

GeneLoc Exon Structure for
KDM2B

Expression for KDM2B Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KDM2B Gene

mRNA expression in normal human tissues for KDM2B Gene
mRNA expression by BioGPS for KDM2B GenemRNA expression by GTEx for KDM2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KDM2B Gene

This gene is overexpressed in Ovary (20.9), Testis (17.9), Spleen (14.7), and Liver (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KDM2B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KDM2B

SOURCE GeneReport for Unigene cluster for KDM2B Gene:

Hs.524800

Evidence on tissue expression from TISSUES for KDM2B Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Skin(2.2)
  • Intestine(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with KDM2B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KDM2B Gene

Orthologs for KDM2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KDM2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KDM2B 30 31
  • 99.53 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KDM2B 30 31
  • 92.97 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KDM2B 30 31
  • 92.71 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kdm2b 30
  • 90.13 (n)
Mouse
(Mus musculus)
 Mammalia Kdm2b 30 17 31
  • 89.31 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 86 (a)
 OneToMany
-- 31
  • 79 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia KDM2B 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KDM2B 30 31
  • 78.71 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KDM2B 31
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kdm2b 30
  • 71.49 (n)
Str.8397 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7069 30
Zebrafish
(Danio rerio)
 Actinopterygii kdm2bb 31
  • 74 (a)
 OneToMany
kdm2ba 31
  • 59 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Kdm2 31
  • 33 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea jhdm-1 31
  • 25 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes JHD1 31
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 45 (a)
 OneToMany
Species where no ortholog for KDM2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • 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)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KDM2B Gene

ENSEMBL:
Gene Tree for KDM2B (if available)
TreeFam:
Gene Tree for KDM2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KDM2B: view image

Paralogs for KDM2B Gene

Paralogs for KDM2B Gene

(4) SIMAP similar genes for KDM2B Gene using alignment to 11 proteins:

  • KDM2B_HUMAN
  • F5GXC2_HUMAN
  • F5GXW2_HUMAN
  • F5H0A1_HUMAN
  • F5H4A7_HUMAN
  • F5H4X4_HUMAN
  • F5H5W7_HUMAN
  • F5H6N6_HUMAN
  • F5H7T7_HUMAN
  • F8WBN2_HUMAN
  • S4R3G4_HUMAN
genes like me logo Genes that share paralogs with KDM2B: view

Variants for KDM2B Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KDM2B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs188008973 Benign: not provided 121,574,540(-) G/A
NM_032590.5(KDM2B):c.397+7C>T 		INTRON
rs191586330 Likely Benign: not provided 121,580,856(-) T/C
NM_032590.5(KDM2B):c.56A>G (p.His19Arg) 		MISSENSE
rs201080343 Benign: not provided 121,442,267(-) G/A
NM_032590.5(KDM2B):c.3174C>T (p.Asp1058=) 		SYNONYMOUS
rs201154323 Benign: not provided 121,509,888(-) G/A
NM_032590.5(KDM2B):c.1326C>T (p.Gly442=) 		SYNONYMOUS
rs34606562 Benign: not provided 121,440,904(-) C/A
NM_032590.5(KDM2B):c.3522G>T (p.Leu1174=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KDM2B 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 KDM2B Gene

Variant ID Type Subtype PubMed ID
esv1005547 CNV loss 20482838
esv1005622 CNV insertion 20482838
esv3440505 CNV duplication 20981092
esv3549895 CNV deletion 23714750
esv3630948 CNV loss 21293372
nsv1053272 CNV gain 25217958
nsv1069705 CNV deletion 25765185
nsv1070134 CNV deletion 25765185
nsv1071061 CNV deletion 25765185
nsv1112620 CNV deletion 24896259
nsv1122773 CNV deletion 24896259
nsv1143713 CNV deletion 24896259
nsv1143714 CNV deletion 24896259
nsv471846 CNV novel sequence insertion 20440878
nsv509483 CNV insertion 20534489
nsv560457 CNV loss 21841781
nsv909 CNV insertion 18451855
nsv952495 CNV deletion 24416366

Variation tolerance for KDM2B Gene

Residual Variation Intolerance Score: 2.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.17; 39.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KDM2B Gene

Human Gene Mutation Database (HGMD)
KDM2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KDM2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDM2B Gene

Disorders for KDM2B Gene

MalaCards: The human disease database

(9) MalaCards diseases for KDM2B Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
cohen syndrome
  • coh1
west syndrome
  • epileptic encephalopathy, early infantile, 1
microcephaly
  • microcephalus
microphthalmia, syndromic 2
  • mcops2
exencephaly
- elite association - COSMIC cancer census association via MalaCards
Search KDM2B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KDM2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KDM2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KDM2B Gene

Publications for KDM2B Gene

  1. JHDM1B/FBXL10 is a nucleolar protein that represses transcription of ribosomal RNA genes. (PMID: 17994099) Frescas D ā€¦ Pagano M (Nature 2007) 3 4 23
  2. DNA Sequence Recognition of Human CXXC Domains and Their Structural Determinants. (PMID: 29276034) Xu C ā€¦ Min J (Structure (London, England : 1993) 2018) 3 4
  3. A Structure-Based Strategy for Engineering Selective Ubiquitin Variant Inhibitors of Skp1-Cul1-F-Box Ubiquitin Ligases. (PMID: 30033217) Gorelik M ā€¦ Sicheri F (Structure (London, England : 1993) 2018) 3 4
  4. Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation. (PMID: 26237645) Jiang Y ā€¦ Lu Z (Nature cell biology 2015) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE ā€¦ Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

ExternalLinks

View latest publications for KDM2B gene in Mastermind

Products for KDM2B Gene

  • Addgene plasmids for KDM2B

Sources for KDM2B Gene