KDM6B

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KDM6B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKDM6B, JMJD3, lysine demethylase 6B, NEDCFSA
External IDsOMIM: 611577 MGI: 2448492 HomoloGene: 18945 GeneCards: KDM6B
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080424
NM_001348716

NM_001017426

RefSeq (protein)

NP_001073893
NP_001335645

NP_001017426

Location (UCSC)Chr 17: 7.83 – 7.85 MbChr 11: 69.4 – 69.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lysine demethylase 6B is a protein that in humans is encoded by the KDM6B gene. [5]

Regulation during differentation[edit]

KDM6B was found to be expressional increased during cardiac and endothelial differentation of murine embryonic stem cells.[6]

Small molecule inhibition[edit]

A small molecule inhibitor (GSK-J1) has been developed to inhibit the jumonji domain of KDM6 histone demethylase family to modulate proinflammatory response in macrophages.[7]

Diagnosis[edit]

Standard laboratory exome sequencing can be used to identify the KDM6B gene variant.

Prognosis[edit]

A 2019 study[8] on symptoms from KDM6B variations reported:

  • Delays in speech and motor development
  • Dysmorphic facial features including coarse features, a prominent forehead, broad mouth, large and prominent ears, a round face, prognathism, and epicanthal fold
  • Musculoskeletal features including some what widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly
  • Neuromuscular hypotonia
  • Intellectual disability
  • Autism spectrum disorder

Epidemiology[edit]

For patients reporting intellectual disability and/or developmental delay, approximately 0.12% have de novo alterations in the KDM6B gene

See also[edit]

Overlapping phenotypic features for patients between KDM6A associated with Kabuki syndrome and KDM6B variations include prominent ears, abnormal dentition, congenital heart disease, feeding difficulties, cryptorchidism, joint hyper-mobility, developmental delay, hypotonia, and behavioral difficulties.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132510 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018476 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Lysine demethylase 6B". Retrieved 2016-04-09.
  6. ^ Boeckel JN, Derlet A, Glaser SF, Luczak A, Lucas T, Heumüller AW, et al. (July 2016). "JMJD8 Regulates Angiogenic Sprouting and Cellular Metabolism by Interacting With Pyruvate Kinase M2 in Endothelial Cells". Arteriosclerosis, Thrombosis, and Vascular Biology. 36 (7): 1425–33. doi:10.1161/ATVBAHA.116.307695. PMID 27199445.
  7. ^ Kruidenier L, Chung CW, Cheng Z, Liddle J, Che K, Joberty G, et al. (August 2012). "A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response". Nature. 488 (7411): 404–8. Bibcode:2012Natur.488..404K. doi:10.1038/nature11262. PMC 4691848. PMID 22842901.
  8. ^ Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, et al. (July 2019). "Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features". American Journal of Medical Genetics. Part A. 179 (7): 1276–1286. doi:10.1002/ajmg.a.61173. PMID 31124279.

Further reading[edit]