The KDM6B gene homepage

General information
Gene symbol	KDM6B
Gene name	lysine (K)-specific demethylase 6B
Chromosome	17
Chromosomal band	p13.1
Imprinted	Unknown
Genomic reference	NC_000017.10
Transcript reference	NM_001080424.1
Associated with diseases	NDD, NEDCFSA
Citation reference(s)	-
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	248
Unique public DNA variants reported	203
Individuals with public variants	117
Hidden variants	34
Download all this gene's data	Download all data
Notes	MAINE transcript NM_001348716.2 Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	May 03, 2013
Date last updated	July 08, 2025
Version	KDM6B:250708

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL	https://www.LOVD.nl/KDM6B
HGNC	HGNC:29012
Entrez Gene	23135
PubMed articles	KDM6B
OMIM - Gene	611577
OMIM - Diseases	NEDCFSA (Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities)
HGMD	KDM6B
GeneCards	KDM6B
NIH Genetic Testing Registry	KDM6B
Orphanet	KDM6B

Active transcripts

Legend

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00010464	17	lysine (K)-specific demethylase 6B	NM_001080424.1	NP_001073893.1	248

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Global Variome shared LOVD

KDM6B (lysine (K)-specific demethylase 6B)