Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7403
Gene name	Lysine demethylase 6A
Gene symbol	KDM6A
Synonyms (NCBI Gene)	KABUK2UTXbA386N14.2
Chromosome	X
Chromosome location	Xp11.3
Summary	This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200638114	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs397514628	C>G,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs398122829	TCT>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs398122929	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398122969	TCTA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs755440519	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs761551642	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205676	AACA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs793888509	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs793888510	T>C	Likely-pathogenic	Splice donor variant
rs797045642	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045643	->T	Likely-pathogenic	Splice donor variant
rs797045644	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224886	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886039398	GACA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041452	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041899	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041946	GTAA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs886043476	G>T	Pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs912069418	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs1060499665	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793351	ACCA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064795033	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691535	G>A	Likely-pathogenic	Splice donor variant
rs1135401809	G>A,C	Pathogenic	Splice donor variant
rs1318649487	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1555957146	A>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1555957162	->GGCGGCGGGAAAAGCG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1556115974	T>G	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1556308480	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556311265	->TCAT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556328723	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556328781	->TCTC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556330304	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556341546	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556346208	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556350571	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556357274	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556357314	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556375815	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1569537333	T>C	Likely-pathogenic	Splice donor variant
rs1569542167	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1602799769	G>T	Likely-pathogenic	Splice donor variant
rs1602822117	TAACTCCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602868720	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602928108	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602928572	G>A	Likely-pathogenic	Splice donor variant
rs1602965271	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602985802	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603068073	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT445482	hsa-miR-6730-3p	PAR-CLIP	22100165
MIRT445481	hsa-miR-3660	PAR-CLIP	22100165
MIRT445480	hsa-miR-4526	PAR-CLIP	22100165
MIRT445479	hsa-miR-6719-3p	PAR-CLIP	22100165
MIRT445478	hsa-miR-1185-5p	PAR-CLIP	22100165
MIRT445477	hsa-miR-3679-5p	PAR-CLIP	22100165
MIRT445476	hsa-miR-3605-5p	PAR-CLIP	22100165
MIRT445475	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445474	hsa-miR-3915	PAR-CLIP	22100165
MIRT445473	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT445472	hsa-miR-4689	PAR-CLIP	22100165
MIRT445471	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT445470	hsa-miR-6509-5p	PAR-CLIP	22100165
MIRT440399	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440399	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733124	hsa-miR-425-5p	Western blottingLuciferase reporter assayqRT-PCR	31934088
MIRT733342	hsa-miR-199b-3p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	34257820
MIRT737536	hsa-miR-425-3p	Luciferase reporter assayImmunoprecipitaion (IP)qRT-PCR	31934088
MIRT445482	hsa-miR-6730-3p	PAR-CLIP	22100165
MIRT445481	hsa-miR-3660	PAR-CLIP	22100165
MIRT445480	hsa-miR-4526	PAR-CLIP	22100165
MIRT445479	hsa-miR-6719-3p	PAR-CLIP	22100165
MIRT445478	hsa-miR-1185-5p	PAR-CLIP	22100165
MIRT445477	hsa-miR-3679-5p	PAR-CLIP	22100165
MIRT445476	hsa-miR-3605-5p	PAR-CLIP	22100165
MIRT445475	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445474	hsa-miR-3915	PAR-CLIP	22100165
MIRT445473	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT445472	hsa-miR-4689	PAR-CLIP	22100165
MIRT445471	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT445470	hsa-miR-6509-5p	PAR-CLIP	22100165
MIRT1084898	hsa-miR-1179	CLIP-seq
MIRT1084899	hsa-miR-1202	CLIP-seq
MIRT1084900	hsa-miR-1297	CLIP-seq
MIRT1084901	hsa-miR-1299	CLIP-seq
MIRT1084902	hsa-miR-1305	CLIP-seq
MIRT1084903	hsa-miR-199a-3p	CLIP-seq
MIRT1084904	hsa-miR-19a	CLIP-seq
MIRT1084905	hsa-miR-19b	CLIP-seq
MIRT1084906	hsa-miR-26a	CLIP-seq
MIRT1084907	hsa-miR-26b	CLIP-seq
MIRT1084908	hsa-miR-3121-3p	CLIP-seq
MIRT1084909	hsa-miR-3129-5p	CLIP-seq
MIRT1084910	hsa-miR-3148	CLIP-seq
MIRT1084911	hsa-miR-3163	CLIP-seq
MIRT1084912	hsa-miR-3168	CLIP-seq
MIRT1084913	hsa-miR-323b-5p	CLIP-seq
MIRT1084914	hsa-miR-340	CLIP-seq
MIRT1084915	hsa-miR-3607-3p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT1084917	hsa-miR-3924	CLIP-seq
MIRT1084918	hsa-miR-3942-5p	CLIP-seq
MIRT1084919	hsa-miR-3972	CLIP-seq
MIRT1084920	hsa-miR-4280	CLIP-seq
MIRT1084921	hsa-miR-4282	CLIP-seq
MIRT1084922	hsa-miR-4310	CLIP-seq
MIRT1084923	hsa-miR-4423-5p	CLIP-seq
MIRT1084924	hsa-miR-4426	CLIP-seq
MIRT1084925	hsa-miR-4465	CLIP-seq
MIRT1084926	hsa-miR-4474-5p	CLIP-seq
MIRT1084927	hsa-miR-4509	CLIP-seq
MIRT1084928	hsa-miR-455-5p	CLIP-seq
MIRT1084929	hsa-miR-4647	CLIP-seq
MIRT1084930	hsa-miR-4662b	CLIP-seq
MIRT1084931	hsa-miR-4670-3p	CLIP-seq
MIRT1084932	hsa-miR-4703-5p	CLIP-seq
MIRT1084933	hsa-miR-4719	CLIP-seq
MIRT1084934	hsa-miR-4744	CLIP-seq
MIRT1084935	hsa-miR-4762-5p	CLIP-seq
MIRT1084936	hsa-miR-4799-5p	CLIP-seq
MIRT1084937	hsa-miR-498	CLIP-seq
MIRT1084938	hsa-miR-499-3p	CLIP-seq
MIRT1084939	hsa-miR-499a-3p	CLIP-seq
MIRT1084940	hsa-miR-511	CLIP-seq
MIRT1084941	hsa-miR-513a-3p	CLIP-seq
MIRT1084942	hsa-miR-513b	CLIP-seq
MIRT1084943	hsa-miR-583	CLIP-seq
MIRT1084944	hsa-miR-875-3p	CLIP-seq
MIRT1084945	hsa-miR-885-5p	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2021588	hsa-miR-1323	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021592	hsa-miR-3179	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021595	hsa-miR-3647-3p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT2021596	hsa-miR-3690	CLIP-seq
MIRT2021597	hsa-miR-371-5p	CLIP-seq
MIRT2021598	hsa-miR-371b-5p	CLIP-seq
MIRT2021599	hsa-miR-4254	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021604	hsa-miR-4668-5p	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2021606	hsa-miR-4693-3p	CLIP-seq
MIRT2021607	hsa-miR-4716-3p	CLIP-seq
MIRT2021608	hsa-miR-4729	CLIP-seq
MIRT2021609	hsa-miR-514	CLIP-seq
MIRT2021610	hsa-miR-514b-3p	CLIP-seq
MIRT2021611	hsa-miR-548o	CLIP-seq
MIRT2021612	hsa-miR-548t	CLIP-seq
MIRT2021613	hsa-miR-563	CLIP-seq
MIRT2021614	hsa-miR-625	CLIP-seq
MIRT2021615	hsa-miR-758	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084899	hsa-miR-1202	CLIP-seq
MIRT1084900	hsa-miR-1297	CLIP-seq
MIRT1084902	hsa-miR-1305	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT1084903	hsa-miR-199a-3p	CLIP-seq
MIRT1084904	hsa-miR-19a	CLIP-seq
MIRT1084905	hsa-miR-19b	CLIP-seq
MIRT1084906	hsa-miR-26a	CLIP-seq
MIRT1084907	hsa-miR-26b	CLIP-seq
MIRT2253114	hsa-miR-300	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT1084908	hsa-miR-3121-3p	CLIP-seq
MIRT2253115	hsa-miR-3123	CLIP-seq
MIRT1084909	hsa-miR-3129-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT1084913	hsa-miR-323b-5p	CLIP-seq
MIRT1084915	hsa-miR-3607-3p	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT1084916	hsa-miR-3686	CLIP-seq
MIRT2253116	hsa-miR-381	CLIP-seq
MIRT2253117	hsa-miR-3925-5p	CLIP-seq
MIRT1084918	hsa-miR-3942-5p	CLIP-seq
MIRT1084919	hsa-miR-3972	CLIP-seq
MIRT2253118	hsa-miR-3976	CLIP-seq
MIRT1084921	hsa-miR-4282	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT1084924	hsa-miR-4426	CLIP-seq
MIRT1084925	hsa-miR-4465	CLIP-seq
MIRT1084926	hsa-miR-4474-5p	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT1084928	hsa-miR-455-5p	CLIP-seq
MIRT1084929	hsa-miR-4647	CLIP-seq
MIRT1084930	hsa-miR-4662b	CLIP-seq
MIRT2253119	hsa-miR-4666-3p	CLIP-seq
MIRT2253120	hsa-miR-4690-3p	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT1084932	hsa-miR-4703-5p	CLIP-seq
MIRT1084933	hsa-miR-4719	CLIP-seq
MIRT2253121	hsa-miR-4760-3p	CLIP-seq
MIRT1084935	hsa-miR-4762-5p	CLIP-seq
MIRT1084937	hsa-miR-498	CLIP-seq
MIRT1084940	hsa-miR-511	CLIP-seq
MIRT2253122	hsa-miR-539	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2389713	hsa-miR-548c-3p	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT1084946	hsa-miR-936	CLIP-seq
MIRT2555980	hsa-miR-1200	CLIP-seq
MIRT2555981	hsa-miR-1283	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2555982	hsa-miR-298	CLIP-seq
MIRT2555983	hsa-miR-3074-5p	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2555984	hsa-miR-3140-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2555985	hsa-miR-4427	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2555986	hsa-miR-548aa	CLIP-seq
MIRT2555987	hsa-miR-548ac	CLIP-seq
MIRT2555988	hsa-miR-548d-3p	CLIP-seq
MIRT2555989	hsa-miR-548z	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq
MIRT2555981	hsa-miR-1283	CLIP-seq
MIRT2021589	hsa-miR-153	CLIP-seq
MIRT2555982	hsa-miR-298	CLIP-seq
MIRT2021590	hsa-miR-3117-5p	CLIP-seq
MIRT2021591	hsa-miR-3157-5p	CLIP-seq
MIRT2021593	hsa-miR-3202	CLIP-seq
MIRT2021594	hsa-miR-3614-5p	CLIP-seq
MIRT2021600	hsa-miR-4328	CLIP-seq
MIRT2021601	hsa-miR-448	CLIP-seq
MIRT2021602	hsa-miR-4530	CLIP-seq
MIRT2021603	hsa-miR-4533	CLIP-seq
MIRT2021605	hsa-miR-4691-3p	CLIP-seq
MIRT2555986	hsa-miR-548aa	CLIP-seq
MIRT2555987	hsa-miR-548ac	CLIP-seq
MIRT2555988	hsa-miR-548d-3p	CLIP-seq
MIRT2555989	hsa-miR-548z	CLIP-seq
MIRT2021616	hsa-miR-890	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17178841, 24981860, 27705803, 32296183, 33961781, 34667079
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	ISS
GO:0007507	Process	Heart development	IBA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0032452	Function	Histone demethylase activity	IEA
GO:0032452	Function	Histone demethylase activity	TAS
GO:0035097	Component	Histone methyltransferase complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IBA
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0071558	Function	Histone H3K27me2/H3K27me3 demethylase activity	IBA
GO:0071558	Function	Histone H3K27me2/H3K27me3 demethylase activity	IEA

MIM	HGNC	e!Ensembl
300128	12637	ENSG00000147050

O15550

Protein name

Lysine-specific demethylase 6A (EC 1.14.11.68) (Histone demethylase UTX) (Ubiquitously-transcribed TPR protein on the X chromosome) (Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein) ([histone H3]-trimethyl-L-lysine(27) demethylase 6

Protein function

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3

PDB

3AVR , 3AVS , 6FUK , 6FUL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13432	TPR_16	106 → 162		Family
PF13181	TPR_8	205 → 236	Tetratricopeptide repeat	Repeat
PF02373	JmjC	1133 → 1241	JmjC domain, hydroxylase	Domain

Sequence

MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFV
RFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYY
SLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVN
TDYESSLKHFQLALVDCNPCTLSNAEIQFHIAHLYETQRKYHSAKEAYEQLLQTENLSAQ
VKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKV
QDAFISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGT
LYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQL
RANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPNGPTADSSLPTNSVSG
QQPQLALTRVPSVSQPGVRPACPGQPLANGPFSAGHVPCSTSRTLGSTDTILIGNNHITG
SGSNGNVPYLQRNALTLPHNRTNLTSSAEEPWKNQLSNSTQGLHKGQSSHSAGPNGERPL
SSTGPSQHLQAAGSGIQNQNGHPTLPSNSVTQGAALNHLSSHTATSGGQQGITLTKESKP
SGNILTVPETSRHTGETPNSTASVEGLPNHVHQMTADAVCSPSHGDSKSPGLLSSDNPQL
SALLMGKANNNVGTGTCDKVNNIHPAVHTKTDNSVASSPSSAISTATPSPKSTEQTTTNS
VTSLNSPHSGLHTINGEGMEESQSPMKTDLLLVNHKPSPQIIPSMSVSIYPSSAEVLKAC
RNLGKNGLSNSSILLDKCPPPRPPSSPYPPLPKDKLNPPTPSIYLENKRDAFFPPLHQFC
TNPNNPVTVIRGLAGALKLDLGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKI
WHCESNRSHTTIAKYAQYQASSFQESLREENEKRSHHKDHSDSESTSSDNSGRRRKGPFK
TIKFGTNIDLSDDKKWKLQLHELTKLPAFVRVVSAGNLLSHVGHTILGMNTVQLYMKVPG
SRTPGHQENNNFCSVNINIGPGDCEWFVVPEGYWGVLNDFCEKNNLNFLMGSWWPNLEDL
YEANVPVYRFIQRPGDLVWINAGTVHWVQAIGWCNNIAWNVGPLTACQYKLAVERYEWNK
LQSVKSIVPMVHLSWNMARNIKVSDPKLFEMIKYCLLRTLKQCQTLREALIAAGKEIIWH
GRTKEEPAHYCSICEVEVFDLLFVTNESNSRKTYIVHCQDCARKTSGNLENFVVLEQYKM
EDLMQVYDQFTLAPPLPSASS

Sequence length

1401

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		HDMs demethylate histones

864

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anemia	Likely pathogenic; Pathogenic	rs1318649487	RCV005626218
Autism spectrum disorder	Pathogenic	rs2523162465	RCV003127249
Cervical cancer	Likely pathogenic	rs1131691535	RCV005899782
Familial cancer of breast	Pathogenic	rs2147777529	RCV005867166
Familial prostate cancer	Pathogenic	rs886041946	RCV005869204
Kabuki syndrome 1	Likely pathogenic; Pathogenic	rs1555957146, rs1450363794, rs2044403163	RCV000659683 RCV001813796 RCV002504381
Kabuki syndrome 2	Pathogenic; Likely pathogenic	rs2148058653, rs2147263638, rs2147776373, rs2148193855, rs2148047495, rs1358181248, rs2146448773, rs2148143831, rs2147963446, rs2148058668, rs2148050812, rs2148169594, rs746435548, rs2523246933, rs2521643351 View all (80 more)	RCV001378320 RCV001384329 RCV001384092 RCV001782333 RCV001808850 RCV001864991 RCV002002778 RCV001958983 RCV002007550 RCV001960713 RCV002245292 RCV002256958 RCV002274445 RCV002287202 RCV002290181 RCV002291411 RCV000172945 RCV000172946 RCV002465402 RCV002471453 RCV002471667 RCV000170468 RCV002510553 RCV000193284 RCV000194978 RCV000193227 RCV000197668 RCV003016562 RCV003021499 RCV003013604 RCV003064000 RCV003146802 RCV003140819 RCV003149106 RCV003149108 RCV003149109 RCV003224997 RCV001224758 RCV003233019 RCV003331939 RCV003528553 RCV003528858 RCV003527644 RCV003527865 RCV003643864 RCV004018290 RCV004555053 RCV000449529 RCV003148752 RCV000496172 RCV000528053 RCV000540641 RCV000033119 RCV000033120 RCV000033121 RCV001854126 RCV003148808 RCV000649035 RCV000687466 RCV000690858 RCV000677411 RCV000677732 RCV000706419 RCV000685508 RCV000760202 RCV003642916 RCV000789043 RCV000803634 RCV000798575 RCV000810693 RCV000821618 RCV000850404 RCV000853276 RCV000853352 RCV001068302 RCV001238223 RCV001254085 RCV001254086 RCV001258336 RCV000076920 RCV001261238 RCV001261240 RCV001261241 RCV001261278 RCV001261232 RCV001261235 RCV001261279 RCV001261239 RCV001261233 RCV001261234 RCV001261236 RCV001261237 RCV001265643 RCV001382692 RCV001270417 RCV001270443
KDM6A-related disorder	Likely pathogenic; Pathogenic	rs2147997359, rs2522766989	RCV003419023 RCV003400160
Malignant tumor of urinary bladder	Pathogenic	rs2147777529, rs2147959076, rs2522833971, rs2147997903, rs2044234392, rs2522782154, rs2523282436, rs2148193752, rs1556308480, rs912069418	RCV005867167 RCV003332936 RCV003332937 RCV003332938 RCV003332953 RCV003332954 RCV003332955 RCV003332956 RCV003332211 RCV003332269
Medulloblastoma non-WNT/non-SHH group 4	Pathogenic	rs886041946, rs189751539	RCV006253935 RCV006254254
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs863224886	RCV006253882
Neoplasm	Pathogenic	rs1135401809	RCV006273974
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2522808002, rs755440519	RCV003389207 RCV001779074
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs793888509, rs1135401809, rs1569537333, rs2044282736, rs2043958892	RCV005888595 RCV005900402 RCV005901747 RCV005909307 RCV005910800
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2148058653, rs2148169289, rs2042138847	RCV005912602 RCV005922714 RCV005909272

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2230018	RCV005889548
CHARGE syndrome	Uncertain significance	rs1373790479	RCV001034584
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs10605935	RCV005867947
Colon adenocarcinoma	Benign; Likely benign	rs758763063	RCV005867212
Colorectal cancer	Benign; Likely benign	rs2230018, rs10605935	RCV005889550 RCV005867945
Familial pancreatic carcinoma	Benign; Likely benign	rs10605935	RCV005867944
Gastric cancer	Benign	rs748438075	RCV005868024
Intellectual disability	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs6529, rs768863219, rs760145252, rs1208237716, rs150408847, rs370883451, rs2044234734, rs2046712711	RCV001252277 RCV005626531 RCV005622162 RCV005626595 RCV005622182 RCV001252276 RCV001257585 RCV001257752
Kabuki Syndrome - KDM6A	Conflicting classifications of pathogenicity	rs2045816079	RCV001249759
Lung cancer	Uncertain significance	rs762278314	RCV005925651
Lymphoma	Benign; Likely benign	rs10605935	RCV005867946
Malignant lymphoma, large B-cell, diffuse	Benign	rs748438075	RCV005868023
Malignant tumor of esophagus	Benign	rs748438075	RCV005868022
Ovarian serous cystadenocarcinoma	Likely benign	rs2147777726	RCV005934843
Peripheral precocious puberty	Uncertain significance	rs2146444183	RCV001374433
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs768863219	RCV005622131
Prostate cancer	Uncertain significance	rs193920970, rs193921028	RCV000149281 RCV000149280
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs773022554, rs1358181248	RCV004584462 RCV002287732
Squamous cell carcinoma of the head and neck	-	rs2045273679	RCV005930032
Thymoma	Benign	rs2230018	RCV005889551
Uterine corpus endometrial carcinoma	Benign	rs748438075	RCV005868025

Show/Hide Text Mining Associations (93)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anorectal Malformations	Associate	36474027
Ataxia Telangiectasia	Associate	27602765
Autoimmune Diseases	Associate	31363182
Axenfeld Rieger syndrome	Associate	36672956
Brain Neoplasms	Associate	31483290, 36215227
Breast Neoplasms	Stimulate	23266085
Breast Neoplasms	Associate	25225064, 26303947, 30327465, 31685800
Calcinosis Cutis	Associate	30306561
Carcinogenesis	Associate	36638328
Carcinoma Adenoid Cystic	Associate	32466769
Carcinoma Hepatocellular	Associate	35254477
Carcinoma in Situ	Associate	31734230
Carcinoma Non Small Cell Lung	Associate	33629637, 34661759
Carcinoma Pancreatic Ductal	Associate	35061935
Carcinoma Renal Cell	Associate	20054297, 23057811, 23644518, 27983522, 34949764, 36052737, 37964489
Carcinoma Squamous Cell	Associate	30377206
Carcinoma Transitional Cell	Associate	21822268
CHARGE Syndrome	Associate	29300383
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	23184418
Chronobiology Disorders	Associate	30401751
Coffin Siris syndrome	Associate	36474027
Coloboma	Associate	36672956
Colonic Neoplasms	Associate	33174323
Colorectal Neoplasms	Associate	28551381, 33174323, 33895166
Congenital Hyperinsulinism	Associate	36890748
Diabetes Mellitus	Associate	40307916
Diabetes Mellitus Congenital Autoimmune	Associate	40307916
DNA Virus Infections	Associate	40076915
Dwarfism Pituitary	Associate	36890748
Ectodermal Dysplasia	Associate	32466769
Endocrine System Diseases	Associate	40307916
Esophageal Squamous Cell Carcinoma	Associate	27294188, 29351209
Eye Diseases	Associate	36672956
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Glioblastoma	Associate	27989769, 36215227
Heart Failure	Associate	30566180
Hodgkin Disease	Associate	24465480
Hydrocephalus	Associate	30509212
Hypoglycemia	Associate	32830475
Hypoxia	Inhibit	25351418
Hypoxia	Associate	30306561, 37768037
Intellectual Disability	Associate	22197486, 40307916
Kabuki syndrome	Associate	22197486, 24633898, 29536651, 29725259, 29907798, 29914387, 30497982, 30509212, 30556359, 31363182, 31876365, 32830475, 33546721, 33674768, 34803161 View all (5 more)
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	33546721
Klinefelter Syndrome	Associate	32959501
Leukemia	Associate	25071154, 26944678, 29224413
Leukemia Large Granular Lymphocytic	Associate	35015834
Leukemia Lymphocytic Chronic B Cell	Associate	33539671
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	33456567
Leukemia Myeloid Acute	Associate	37088137
Leukemia Myelomonocytic Chronic	Associate	21828135, 31048357
Lung Neoplasms	Associate	23033341
Lymphoma	Associate	31776129
Macrophage Activation Syndrome	Associate	37454119
Mandibular Injuries	Associate	36890748
Medulloblastoma	Associate	22832583, 36131014
Meningioma	Associate	26240495, 33087175
Microphthalmos	Associate	36672956
Myelodysplastic Syndromes	Associate	19388938
Neoplasm Metastasis	Associate	30306561
Neoplasms	Associate	19330029, 20081860, 21822268, 22832583, 24710217, 24835989, 25225064, 26777304, 27270441, 27819678, 27869828, 28483946, 29136502, 29351209, 29483212 View all (12 more)
Neoplasms	Stimulate	23057811
Neoplasms	Inhibit	24622842, 26283183, 26303947, 26944678, 34465286, 37658535
Nerve Degeneration	Associate	35791460
Non Muscle Invasive Bladder Neoplasms	Associate	28339163, 32449441, 34953602, 35073341
Oligomenorrhea	Associate	40307916
Osteoarthritis	Associate	36046996
Pancreatic Neoplasms	Associate	30306561
Peters anomaly	Associate	36672956
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	31776129
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	26944678, 27602765
Prostatic Intraepithelial Neoplasia	Associate	26542946
Prostatic Neoplasms	Associate	26542946, 27819678, 35944897
Prostatic Neoplasms	Inhibit	39741346
Prostatic Neoplasms Castration Resistant	Associate	22722839, 33771885
Purpura Thrombocytopenic Idiopathic	Associate	31363182
Rectal Neoplasms	Associate	33174323
Red Cell Aplasia Pure	Associate	33500526
Respiratory Tract Infections	Associate	33397444
Sclerocornea	Associate	36672956
Small Cell Lung Carcinoma	Associate	31199602, 33880365
Spinal Cord Injuries	Associate	37454119
Squamous Cell Carcinoma of Head and Neck	Associate	25275298, 34465286
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	32853382
Tooth Diseases	Associate	29725259
Triple Negative Breast Neoplasms	Associate	27491809, 32923150
Turcot syndrome	Associate	33174323
Urethral Neoplasms	Associate	37658535
Urinary Bladder Diseases	Associate	30352907
Urinary Bladder Neoplasms	Associate	21822268, 24357085, 25225064, 26901314, 27533081, 27699256, 27983522, 29136510, 31233191, 32012118, 32989154, 33849962, 34051747, 34793662, 34953602 View all (4 more)
Uterine Cervical Neoplasms	Associate	28968467
Uterine Cervicitis	Associate	21245294
Wolf Hirschhorn Syndrome	Associate	34906459

KDM6A (lysine demethylase 6A)