KDM2B (lysine demethylase 2B)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84678 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Lysine demethylase 2B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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KDM2B |
SynonymsGene synonyms aliases
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CXXC2, FBXL10, Fbl10, JHDM1B, PCCX2 |
ChromosomeChromosome number
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12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q24.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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), w |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs782304760 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q8NHM5 |
Protein name |
Lysine-specific demethylase 2B (EC 1.14.11.27) (CXXC-type zinc finger protein 2) (F-box and leucine-rich repeat protein 10) (F-box protein FBL10) (F-box/LRR-repeat protein 10) (JmjC domain-containing histone demethylation protein 1B) (Jumonji domain-conta |
Protein 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 H |
PDB |
4O64
,
5JH5
,
6BVA
,
8HCU
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13621 |
Cupin_8 |
23 → 336 |
Cupin-like domain |
Domain |
PF17811 |
JHD |
333 → 418 |
Jumonji helical domain |
Domain |
PF02008 |
zf-CXXC |
605 → 651 |
CXXC zinc finger domain |
Domain |
PF16866 |
PHD_4 |
656 → 723 |
PHD-finger |
Domain |
PF00646 |
F-box |
1050 → 1107 |
F-box domain |
Domain |
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Sequence |
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Sequence length |
1336 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Infantile spasms |
Infantile Spasm |
rs387906686, rs1553579488, rs1553567561 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21743468 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cardiovascular diseases |
Cardiovascular Diseases |
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30595370 |
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Tel: +91-22-24192104, Fax No: +91-22-24139412 |