Lysine Demethylase 6B

Alternative Names

  • KDM6B
  • Lysine-Specific Demethylase 6B
  • Jumonji Domain-Containing Protein 3
  • JMJD3
  • KIAA0346
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OMIM Number

611577

NCBI Gene ID

23135

Uniprot ID

O15054

Length

20,587 bases

No. of Exons

28

No. of isoforms

2

Protein Name

Lysine-specific demethylase 6B

Molecular Mass

176632 Da

Amino Acid Count

1643

Genomic Location

chr17:7,834,209-7,854,795

Gene Map Locus
17p13.1

Description

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001080424.1:c.4271_4273delUnited Arab EmiratesNC_000017.11:g.7852056_7852058delLikely PathogenicNeurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal AbnormalitiesNG_053032.1:g.22857_22859del; NM_001080424.1:c.4271_4273del; NP_001073893.1:p.Phe1424del
NM_001080424.1:c.974delUnited Arab EmiratesNC_000017.11:g.7847169delLikely PathogenicNeurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal AbnormalitiesNG_053032.1:g.17970del; NM_001080424.1:c.974del; NP_001073893.1:p.Pro325LeufsTer162
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