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KDM6B lysine demethylase 6B [ Homo sapiens (human) ]

Gene ID: 23135, updated on 25-Nov-2021

Summary

Official Symbol
KDM6Bprovided by HGNC
Official Full Name
lysine demethylase 6Bprovided by HGNC
Primary source
HGNC:HGNC:29012
See related
Ensembl:ENSG00000132510 MIM:611577
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JMJD3; NEDCFSA
Summary
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. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 9.0), appendix (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See KDM6B in Genome Data Viewer
Location:
17p13.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7834217..7854796)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7737535..7758114)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 2 Neighboring gene ribosomal protein L29 pseudogene 2 Neighboring gene uncharacterized LOC105371516 Neighboring gene uncharacterized LOC107987244 Neighboring gene Sharpr-MPRA regulatory region 3930 Neighboring gene Sharpr-MPRA regulatory region 4002 Neighboring gene transmembrane protein 88 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
MedGen: C5193134 OMIM: 618505 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-11-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-11-28)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of lysine-specific demethylase 6B (KDM6B) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • KIAA0346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone H3-tri/di-methyl-lysine-27 demethylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone H3-tri/di-methyl-lysine-27 demethylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone demethylase activity TAS
Traceable Author Statement
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone H3-K27 demethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone H3-K27 demethylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in mesodermal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of MLL3/4 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
lysine-specific demethylase 6B
Names
[histone H3]-trimethyl-L-lysine(27) demethylase 6B
jmjC domain-containing protein 3
jumonji domain containing 3, histone lysine demethylase
jumonji domain-containing protein 3
lysine (K)-specific demethylase 6B
NP_001073893.1
NP_001335645.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053032.1 RefSeqGene

    Range
    10718..25597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080424.2NP_001073893.1  lysine-specific demethylase 6B isoform 1

    See identical proteins and their annotated locations for NP_001073893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) retains an intron in the 3' coding region, compared to variant 2, and encodes a longer protein (isoform 1), compared to isoform 2.
    Source sequence(s)
    AB002344, AC104581, BC035897
    Consensus CDS
    CCDS32552.1
    UniProtKB/Swiss-Prot
    O15054
    Related
    ENSP00000254846.5, ENST00000254846.9
    Conserved Domains (3) summary
    pfam02373
    Location:13771485
    JmjC; JmjC domain, hydroxylase
    smart00558
    Location:13431407
    JmjC; A domain family that is part of the cupin metalloenzyme superfamily
    pfam05308
    Location:566640
    Mito_fiss_reg; Mitochondrial fission regulator
  2. NM_001348716.2NP_001335645.1  lysine-specific demethylase 6B isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the shorter isoform (2).
    Source sequence(s)
    AC025335, AC104581
    Consensus CDS
    CCDS86569.1
    UniProtKB/Swiss-Prot
    O15054
    Related
    ENSP00000412513.2, ENST00000448097.7
    Conserved Domains (3) summary
    pfam02373
    Location:13771485
    JmjC; JmjC domain, hydroxylase
    smart00558
    Location:13431407
    JmjC; A domain family that is part of the cupin metalloenzyme superfamily
    cl26247
    Location:572718
    DNA_pol3_delta2; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7834217..7854796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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