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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9759
Gene name	Histone deacetylase 4
Gene symbol	HDAC4
Synonyms (NCBI Gene)	AHO3BDMRHA6116HD4HDAC-4HDAC-AHDACANEDCHFNEDCHID
Chromosome	2
Chromosome location	2q37.3
Summary	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene b

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115552422	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138137158	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139841625	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142279745	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148880349	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, synonymous variant
rs199918439	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs372078034	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs756574089	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1064797002	G>A	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001053	hsa-miR-1-3p	Western blot	18818206
MIRT000693	hsa-miR-140-5p	qRT-PCRWestern blot	19734943
MIRT001053	hsa-miR-1-3p	Luciferase reporter assay	18818206
MIRT000693	hsa-miR-140-5p	Luciferase reporter assay	19734943
MIRT001053	hsa-miR-1-3p	Review	19815577
MIRT001053	hsa-miR-1-3p	Review	20140609
MIRT001053	hsa-miR-1-3p	Western blot	18593903
MIRT004035	hsa-miR-22-3p	Luciferase reporter assayqRT-PCRWestern blot	20842113
MIRT000096	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT007109	hsa-miR-30c-5p	qRT-PCRWestern blot	23469762
MIRT004035	hsa-miR-22-3p	Luciferase reporter assay	23349832
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT001053	hsa-miR-1-3p	5.0	24858276
MIRT054097	hsa-miR-302b-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23484053
MIRT438358	hsa-miR-206	FlowqRT-PCR	24855559
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT438358	hsa-miR-206	FlowqRT-PCR	24855559
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT437956	hsa-miR-9-5p	Luciferase reporter assay	24714615
MIRT657476	hsa-miR-4282	HITS-CLIP	23824327
MIRT657475	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT657474	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT657473	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT657472	hsa-miR-4686	HITS-CLIP	23824327
MIRT657471	hsa-miR-587	HITS-CLIP	23824327
MIRT657470	hsa-miR-3149	HITS-CLIP	23824327
MIRT727513	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727512	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT000096	hsa-miR-29b-3p	Luciferase reporter assay	27022108
MIRT000096	hsa-miR-29b-3p	ChIP immunoprecipitationImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	27196750
MIRT735564	hsa-miR-483-5p	ELISALuciferase reporter assayqRT-PCR	34126643
MIRT736694	hsa-miR-432-5p	Luciferase reporter assayWestern blottingqRT-PCR	33116874
MIRT735564	hsa-miR-483-5p	Luciferase reporter assayWestern blottingMicroarrayqRT-PCR	23431031
MIRT000096	hsa-miR-29b-3p	qRT-PCR	32681233
MIRT657476	hsa-miR-4282	HITS-CLIP	23824327
MIRT657475	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT657474	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT657473	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT657472	hsa-miR-4686	HITS-CLIP	23824327
MIRT657471	hsa-miR-587	HITS-CLIP	23824327
MIRT657470	hsa-miR-3149	HITS-CLIP	23824327
MIRT755886	hsa-miR-330-3p	Luciferase reporter assayWestern blottingqRT-PCR	37711168
MIRT1042454	hsa-miR-136	CLIP-seq
MIRT1042455	hsa-miR-1909	CLIP-seq
MIRT1042456	hsa-miR-1915	CLIP-seq
MIRT1042457	hsa-miR-29a	CLIP-seq
MIRT1042458	hsa-miR-29b	CLIP-seq
MIRT1042459	hsa-miR-29c	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT1042463	hsa-miR-3609	CLIP-seq
MIRT1042464	hsa-miR-3649	CLIP-seq
MIRT1042465	hsa-miR-4270	CLIP-seq
MIRT1042466	hsa-miR-4316	CLIP-seq
MIRT1042467	hsa-miR-4328	CLIP-seq
MIRT1042468	hsa-miR-4441	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT1042470	hsa-miR-4503	CLIP-seq
MIRT1042471	hsa-miR-4643	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042474	hsa-miR-4726-3p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT1042477	hsa-miR-520g	CLIP-seq
MIRT1042478	hsa-miR-520h	CLIP-seq
MIRT1042479	hsa-miR-548ah	CLIP-seq
MIRT1042480	hsa-miR-711	CLIP-seq
MIRT2008965	hsa-miR-1205	CLIP-seq
MIRT2008966	hsa-miR-1208	CLIP-seq
MIRT2008967	hsa-miR-1321	CLIP-seq
MIRT2008968	hsa-miR-2277-3p	CLIP-seq
MIRT2008969	hsa-miR-3120-3p	CLIP-seq
MIRT2008970	hsa-miR-3121-3p	CLIP-seq
MIRT2008971	hsa-miR-3153	CLIP-seq
MIRT2008972	hsa-miR-3166	CLIP-seq
MIRT2008973	hsa-miR-3660	CLIP-seq
MIRT2008974	hsa-miR-3665	CLIP-seq
MIRT2008975	hsa-miR-3673	CLIP-seq
MIRT2008976	hsa-miR-3677-5p	CLIP-seq
MIRT2008977	hsa-miR-4252	CLIP-seq
MIRT1042465	hsa-miR-4270	CLIP-seq
MIRT1042468	hsa-miR-4441	CLIP-seq
MIRT2008978	hsa-miR-4446-5p	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT2008979	hsa-miR-4514	CLIP-seq
MIRT2008980	hsa-miR-4526	CLIP-seq
MIRT2008981	hsa-miR-4661-3p	CLIP-seq
MIRT2008982	hsa-miR-4668-3p	CLIP-seq
MIRT2008983	hsa-miR-4672	CLIP-seq
MIRT2008984	hsa-miR-4692	CLIP-seq
MIRT2008985	hsa-miR-4701-5p	CLIP-seq
MIRT2008986	hsa-miR-4728-5p	CLIP-seq
MIRT2008987	hsa-miR-4733-3p	CLIP-seq
MIRT2008988	hsa-miR-4739	CLIP-seq
MIRT2008989	hsa-miR-4742-5p	CLIP-seq
MIRT2008990	hsa-miR-4755-5p	CLIP-seq
MIRT2008991	hsa-miR-4756-5p	CLIP-seq
MIRT2008992	hsa-miR-4771	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT2008993	hsa-miR-518a-5p	CLIP-seq
MIRT2008994	hsa-miR-527	CLIP-seq
MIRT2008995	hsa-miR-548m	CLIP-seq
MIRT2008996	hsa-miR-588	CLIP-seq
MIRT2008997	hsa-miR-642a	CLIP-seq
MIRT2008998	hsa-miR-657	CLIP-seq
MIRT2008966	hsa-miR-1208	CLIP-seq
MIRT2241317	hsa-miR-1244	CLIP-seq
MIRT2241318	hsa-miR-1245b-5p	CLIP-seq
MIRT2241319	hsa-miR-1257	CLIP-seq
MIRT2241320	hsa-miR-141	CLIP-seq
MIRT2241321	hsa-miR-188-5p	CLIP-seq
MIRT2241322	hsa-miR-200a	CLIP-seq
MIRT2241323	hsa-miR-204	CLIP-seq
MIRT2241324	hsa-miR-211	CLIP-seq
MIRT2241325	hsa-miR-2682	CLIP-seq
MIRT2008969	hsa-miR-3120-3p	CLIP-seq
MIRT2241326	hsa-miR-3121-5p	CLIP-seq
MIRT2241327	hsa-miR-3142	CLIP-seq
MIRT2008971	hsa-miR-3153	CLIP-seq
MIRT2241328	hsa-miR-3616-3p	CLIP-seq
MIRT2241329	hsa-miR-3692	CLIP-seq
MIRT2241330	hsa-miR-3922-5p	CLIP-seq
MIRT2241331	hsa-miR-3942-5p	CLIP-seq
MIRT2241332	hsa-miR-4267	CLIP-seq
MIRT2241333	hsa-miR-4303	CLIP-seq
MIRT2241334	hsa-miR-4420	CLIP-seq
MIRT2008978	hsa-miR-4446-5p	CLIP-seq
MIRT2241335	hsa-miR-4452	CLIP-seq
MIRT1042469	hsa-miR-4457	CLIP-seq
MIRT2241336	hsa-miR-449c	CLIP-seq
MIRT2008979	hsa-miR-4514	CLIP-seq
MIRT2241337	hsa-miR-452	CLIP-seq
MIRT2008981	hsa-miR-4661-3p	CLIP-seq
MIRT2008982	hsa-miR-4668-3p	CLIP-seq
MIRT2241338	hsa-miR-4676-3p	CLIP-seq
MIRT2241339	hsa-miR-4682	CLIP-seq
MIRT2241340	hsa-miR-4691-3p	CLIP-seq
MIRT2241341	hsa-miR-4691-5p	CLIP-seq
MIRT2008984	hsa-miR-4692	CLIP-seq
MIRT2008985	hsa-miR-4701-5p	CLIP-seq
MIRT2241342	hsa-miR-4703-3p	CLIP-seq
MIRT2241343	hsa-miR-4703-5p	CLIP-seq
MIRT2241344	hsa-miR-4705	CLIP-seq
MIRT2008986	hsa-miR-4728-5p	CLIP-seq
MIRT2008990	hsa-miR-4755-5p	CLIP-seq
MIRT1042476	hsa-miR-513b	CLIP-seq
MIRT2008993	hsa-miR-518a-5p	CLIP-seq
MIRT2008994	hsa-miR-527	CLIP-seq
MIRT2241345	hsa-miR-539	CLIP-seq
MIRT2008996	hsa-miR-588	CLIP-seq
MIRT2241346	hsa-miR-647	CLIP-seq
MIRT2241347	hsa-miR-653	CLIP-seq
MIRT2008965	hsa-miR-1205	CLIP-seq
MIRT2008974	hsa-miR-3665	CLIP-seq
MIRT2008989	hsa-miR-4742-5p	CLIP-seq
MIRT2008998	hsa-miR-657	CLIP-seq
MIRT2429509	hsa-miR-1297	CLIP-seq
MIRT2429510	hsa-miR-26a	CLIP-seq
MIRT2429511	hsa-miR-26b	CLIP-seq
MIRT2429512	hsa-miR-4465	CLIP-seq
MIRT2437562	hsa-miR-218	CLIP-seq
MIRT2437563	hsa-miR-3155	CLIP-seq
MIRT2437564	hsa-miR-3155b	CLIP-seq
MIRT2437565	hsa-miR-4258	CLIP-seq
MIRT2437566	hsa-miR-4448	CLIP-seq
MIRT2437567	hsa-miR-4659a-3p	CLIP-seq
MIRT2437568	hsa-miR-4659b-3p	CLIP-seq
MIRT2437569	hsa-miR-4780	CLIP-seq
MIRT2437570	hsa-miR-484	CLIP-seq
MIRT2437571	hsa-miR-574-5p	CLIP-seq
MIRT2437572	hsa-miR-623	CLIP-seq
MIRT2437573	hsa-miR-636	CLIP-seq
MIRT2437574	hsa-miR-648	CLIP-seq
MIRT2437575	hsa-miR-759	CLIP-seq
MIRT2545028	hsa-miR-1913	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT2545029	hsa-miR-324-3p	CLIP-seq
MIRT2545030	hsa-miR-4313	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq
MIRT2545028	hsa-miR-1913	CLIP-seq
MIRT1042460	hsa-miR-31	CLIP-seq
MIRT1042461	hsa-miR-3126-3p	CLIP-seq
MIRT1042462	hsa-miR-3128	CLIP-seq
MIRT2545029	hsa-miR-324-3p	CLIP-seq
MIRT2545030	hsa-miR-4313	CLIP-seq
MIRT2682231	hsa-miR-451b	CLIP-seq
MIRT1042472	hsa-miR-4707-5p	CLIP-seq
MIRT1042473	hsa-miR-4720-5p	CLIP-seq
MIRT1042475	hsa-miR-4799-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Activation	16280357
SP3	Activation	16280357

Show/Hide all (66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0000118	Component	Histone deacetylase complex	IDA	11804585
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16236793
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10869435
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	15743821
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18850004, 19276356
GO:0000785	Component	Chromatin	IDA	31127039
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18850004
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24413532
GO:0001216	Function	DNA-binding transcription activator activity	IDA	19071119
GO:0004407	Function	Histone deacetylase activity	IBA
GO:0004407	Function	Histone deacetylase activity	IDA	10220385, 10869435, 12590135
GO:0004407	Function	Histone deacetylase activity	IEA
GO:0005515	Function	Protein binding	IPI	10869435, 10958686, 11463856, 11504882, 11804585, 15161933, 15194749, 15778465, 15964851, 16147992, 16166628, 16767219, 16919237, 17159145, 17979178, 18045992, 18163532, 19071119, 20116378, 20936779, 21242980, 21988832, 22649097, 23752268, 24229708, 24255178, 24413532, 25416956, 264
GO:0005634	Component	Nucleus	IDA	10869435, 19281832, 23867755, 26019235
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10869435, 19281832
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	18850004
GO:0006476	Process	Protein deacetylation	IDA	27708256
GO:0006954	Process	Inflammatory response	TAS	12711221
GO:0007399	Process	Nervous system development	TAS	12711221
GO:0008270	Function	Zinc ion binding	IDA	18614528
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18850004
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	10983972
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IMP	19276356
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	TAS	17011572
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016925	Process	Protein sumoylation	TAS
GO:0017053	Component	Transcription repressor complex	IDA	11804585
GO:0019789	Function	SUMO transferase activity	EXP	17218271
GO:0030183	Process	B cell differentiation	TAS	12711221
GO:0030955	Function	Potassium ion binding	IDA	18614528
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	17696781
GO:0033558	Function	Protein lysine deacetylase activity	IDA	18614528
GO:0033558	Function	Protein lysine deacetylase activity	IEA
GO:0033558	Function	Protein lysine deacetylase activity	TAS
GO:0040029	Process	Epigenetic regulation of gene expression	IBA
GO:0042113	Process	B cell activation	TAS	12711221
GO:0042393	Function	Histone binding	IDA	19276356
GO:0042802	Function	Identical protein binding	IPI	17360518
GO:0042826	Function	Histone deacetylase binding	IPI	10869435, 12590135
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	10869435, 18614528
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	18850004, 24413532
GO:0045820	Process	Negative regulation of glycolytic process	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19071119
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	31127039
GO:0060337	Process	Type I interferon-mediated signaling pathway	IDA	31127039
GO:0060337	Process	Type I interferon-mediated signaling pathway	IMP	23391734
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	18850004, 19071119, 23867755
GO:0070555	Process	Response to interleukin-1	IMP	19281832
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	10983972, 11804585
GO:0141221	Function	Histone deacetylase activity, hydrolytic mechanism	IEA

MIM	HGNC	e!Ensembl
605314	14063	ENSG00000068024

P56524

Protein name

Histone deacetylase 4 (HD4) (EC 3.5.1.98)

Protein function

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell c

PDB

2H8N , 2O94 , 2VQJ , 2VQM , 2VQO , 2VQQ , 2VQV , 2VQW , 3UXG , 3UZD , 3V31 , 4CBT , 4CBY , 5A2S , 5ZOO , 5ZOP , 6FYZ , 7XUZ , 8PDE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12203	HDAC4_Gln	62 → 152	Glutamine rich N terminal domain of histone deacetylase 4	Family
PF00850	Hist_deacetyl	675 → 992	Histone deacetylase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MSSQSHPDGLSGRDQPVELLNPARVNHMPSTVDVATALPLQVAPSAVPMDLRLDHQFSLP
VAEPALREQQLQQELLALKQKQQIQRQILIAEFQRQHEQLSRQHEAQLHEHIKQQQEMLA
MKHQQELLEHQRKLERHRQEQELEKQHREQKLQQLKNKEKGKESAVASTEVKMKLQEFVL
NKKKALAHRNLNHCISSDPRYWYGKTQHSSLDQSSPPQSGVSTSYNHPVLGMYDAKDDFP
LRKTASEPNLKLRSRLKQKVAERRSSPLLRRKDGPVVTALKKRPLDVTDSACSSAPGSGP
SSPNNSSGSVSAENGIAPAVPSIPAETSLAHRLVAREGSAAPLPLYTSPSLPNITLGLPA
TGPSAGTAGQQDAERLTLPALQQRLSLFPGTHLTPYLSTSPLERDGGAAHSPLLQHMVLL
EQPPAQAPLVTGLGALPLHAQSLVGADRVSPSIHKLRQHRPLGRTQSAPLPQNAQALQHL
VIQQQHQQFLEKHKQQFQQQQLQMNKIIPKPSEPARQPESHPEETEEELREHQALLDEPY
LDRLPGQKEAHAQAGVQVKQEPIESDEEEAEPPREVEPGQRQPSEQELLFRQQALLLEQQ
RIHQLRNYQASMEAAGIPVSFGGHRPLSRAQSSPASATFPVSVQEPPTKPRFTTGLVYDT
LMLKHQCTCGSSSSHPEHAGRIQSIWSRLQETGLRGKCECIRGRKATLEELQTVHSEAHT
LLYGTNPLNRQKLDSKKLLGSLASVFVRLPCGGVGVDSDTIWNEVHSAGAARLAVGCVVE
LVFKVATGELKNGFAVVRPPGHHAEESTPMGFCYFNSVAVAAKLLQQRLSVSKILIVDWD
VHHGNGTQQAFYSDPSVLYMSLHRYDDGNFFPGSGAPDEVGTGPGVGFNVNMAFTGGLDP
PMGDAEYLAAFRTVVMPIASEFAPDVVLVSSGFDAVEGHPTPLGGYNLSARCFGYLTKQL
MGLAGGRIVLALEGGHDLTAICDASEACVSALLGNELDPLPEKVLQQRPNANAVRSMEKV
MEIHSKYWRCLQRTTSTAGRSLIEAQTCENEEAETVTAMASLSVGVKPAEKRPDEEPMEE
EPPL

Sequence length

1084

Interactions

View interactions

	KEGG		Reactome
	Apelin signaling pathway Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis MicroRNAs in cancer		Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Notch-HLH transcription pathway SUMOylation of intracellular receptors SUMOylation of chromatin organization proteins RUNX3 regulates p14-ARF

134

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Brachydactyly syndrome type E	Pathogenic	rs1064797002	RCV001824806
Chromosome 2q37 deletion syndrome	Pathogenic	rs748900140, rs1064797002	RCV000005373 RCV002286740
HDAC4-related disorder	Likely pathogenic; Pathogenic	rs2042442594	RCV003399032
Multiple myeloma	Likely pathogenic	rs372078034	RCV000984097
Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Pathogenic; Likely pathogenic	rs2152917882, rs2152917896, rs1064797002, rs2042442594	RCV001849236 RCV001849237 RCV001849182 RCV002069355
Profound intellectual disability	Pathogenic	rs1064797002	RCV001290415
Severe intellectual disability	Likely pathogenic; Pathogenic	rs2042442594	RCV001290416

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs2279271, rs61754648	RCV005918783 RCV005895600
Cervical cancer	Likely benign	rs190924205, rs139121214	RCV005917915 RCV005933431
Cholangiocarcinoma	Benign	rs2279271	RCV005918786
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2470268298	RCV004560303
Familial cancer of breast	Benign; Likely benign	rs61754648	RCV005895599
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs375225974, rs374729768, rs777568201, rs528609316, rs201219118, rs201875453, rs746764988, rs745953691	RCV005626753 RCV001260719 RCV005625704 RCV005626266 RCV001252509 RCV001252508 RCV001260718 RCV001260720
Lung cancer	Benign; Likely benign	rs2279271, rs61754648	RCV005918787 RCV005895602
Malignant tumor of esophagus	Likely benign; Benign	rs190924205, rs61754648	RCV005917914 RCV005895601
Microcephaly	Uncertain significance	rs747881579	RCV001252736
Neurodevelopmental abnormality	Uncertain significance	rs2038325962	RCV001264680
Ovarian serous cystadenocarcinoma	Benign	rs2279271	RCV005918784
Sarcoma	Likely benign	rs190924205	RCV005917916
See cases	Uncertain significance	rs775850924	RCV001199179
Syndromic intellectual disability	Uncertain significance	rs766000387	RCV002227765
Uterine carcinosarcoma	Benign	rs2279271	RCV005918785
Uterine corpus endometrial carcinoma	Likely benign	rs190924205	RCV005918895
VATER association	Conflicting classifications of pathogenicity	rs374897753	RCV005626840

Show/Hide Text Mining Associations (114)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	23188045
Adenocarcinoma of Lung	Associate	24830600
Adrenocortical Carcinoma	Associate	36039643
Amyotrophic Lateral Sclerosis	Stimulate	28842714
Anorexia Nervosa	Associate	29256967
Atherosclerosis	Associate	29685964, 33845782
Atrial Fibrillation	Inhibit	35756425
Attention Deficit Disorder with Hyperactivity	Associate	30287865
Autistic Disorder	Associate	24768552
Bloom Syndrome	Associate	31817742
Bone Diseases	Associate	20691407
Brachydactyly Type E	Associate	20691407, 23188045
Breast Neoplasms	Associate	24079712
Carcinogenesis	Associate	25791281, 27295551
Carcinoma Hepatocellular	Inhibit	18593903
Carcinoma Hepatocellular	Associate	34348664
Carcinoma Ovarian Epithelial	Associate	33099316
Carcinoma Papillary	Stimulate	23873102
Carcinoma Renal Cell	Associate	22402494
Cardiovascular Diseases	Associate	34895303
Cartilage Diseases	Associate	25424126, 25515592, 27072078
Cholangiocarcinoma	Associate	26441331
Chondrosarcoma	Associate	19509297
Chordoma	Associate	20041488, 23893747
Choroidal Neovascularization	Inhibit	34057022
Chromosomal Instability	Associate	25557107
Chromosome 2q37 deletion syndrome	Associate	20691407, 23188045, 29921581, 31990478
Chromosome Aberrations	Associate	24079712
Colorectal Neoplasms	Associate	32711442, 36982429
Developmental Disabilities	Associate	20691407, 23188045, 24768552
Diabetes Gestational	Associate	35721735
Diabetes Mellitus Type 1	Inhibit	37062177
Diabetic Foot	Associate	33096729
Diabetic Nephropathies	Stimulate	35392987
Epilepsy Familial Mesial Temporal Lobe	Associate	33258018
Esophageal Neoplasms	Associate	27295551, 35193602
Esophageal Squamous Cell Carcinoma	Stimulate	27295551
Facial Dysmorphism with Multiple Malformations	Associate	23188045
Failed Back Surgery Syndrome	Associate	20443916
Feeding and Eating Disorders	Associate	29256967
Fibrocartilaginous embolism	Associate	33215410, 38217540
Fibrosis	Associate	27152124
Glioblastoma	Associate	24079712, 28735518
Glioma	Inhibit	25557107
Glioma	Associate	25791281, 35545840, 37528157
Head and Neck Neoplasms	Associate	30131570
Heart Diseases	Associate	22865920, 37096653
Hematologic Neoplasms	Associate	27766571
Hyperlipidemias	Associate	30045016
Hypertrophy	Associate	25515592, 33840739, 35756425
Hypoxia	Associate	21917920
Hypoxia	Inhibit	34057022
Hypoxia	Stimulate	37149664
Hypoxia Brain	Stimulate	34057022
Hypoxia Brain	Associate	37149664
Idiopathic Pulmonary Fibrosis	Associate	25612003
Infertility Male	Associate	31103287
Inflammation	Associate	24079712, 24086512, 24445954, 36301023, 38217540
Influenza Human	Associate	30068332
Insulin Resistance	Associate	24086512, 39180924
Intellectual Disability	Associate	31990478
Intervertebral Disc Degeneration	Associate	36746221
Kidney Failure Chronic	Associate	33933144
Leiomyosarcoma	Associate	28419090, 31754707
Leukemia Lymphocytic Chronic B Cell	Associate	25944469
Leukemia Myeloid Acute	Stimulate	27766571
Lung Neoplasms	Associate	30106218, 35864951
Macular Degeneration	Inhibit	34057022
Malocclusion	Associate	24075665
Malocclusion Angle Class III	Stimulate	24075665
Mental Disorders	Associate	20691407
Multiple Myeloma	Associate	25482492, 26433312, 35369902
Nasopharyngeal Carcinoma	Associate	37023940
Neoplasm Metastasis	Associate	26441331, 35637410, 37023940
Neoplasms	Associate	21169070, 21917920, 22865920, 23873102, 24079712, 25791281, 26502922, 27295551, 28417283, 30226605, 30315623, 31052182, 31892336, 31989434, 35606086, 36982651 View all (1 more)
Neoplasms	Inhibit	34222480, 35345359
Nerve Degeneration	Associate	21605119
Neuroectodermal Tumors Primitive	Associate	30223590
Neuroendocrine Tumors	Associate	30223590
Neuroinflammatory Diseases	Associate	38087366
Obesity	Inhibit	24086512
Obesity	Associate	25651499, 31216936, 33487124
Obsessive Compulsive Disorder	Associate	34730715
Oncogene Addiction	Associate	30315623
Osseous Heteroplasia Progressive	Associate	20691407
Osteoarthritis	Associate	25424126, 25515592
Osteochondrodysplasias	Associate	37446153
Osteoporosis	Associate	33461610
Osteosarcoma	Associate	29893594, 35211755
Pancreatic Neoplasms	Associate	25275504, 26502922, 37149664, 38297362
Parkinson Disease	Associate	30503143
Parkinson Disease Secondary	Associate	30503143
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	20636436
Prostatic Neoplasms	Associate	25335771
Psychomotor Disorders	Associate	23188045
Pulmonary Disease Chronic Obstructive	Associate	25369292, 31817742, 37373058
Retinitis	Inhibit	34057022
Rhinitis Allergic	Associate	36301023
Schizophrenia	Associate	17961987
Smith Magenis Syndrome	Associate	20691407
Squamous Cell Carcinoma of Head and Neck	Associate	36362284
Status Asthmaticus	Associate	30068332
Stomach Neoplasms	Associate	24896240
Stomach Neoplasms	Stimulate	34232196, 35637410
Thyroid Cancer Papillary	Associate	21642358
Thyroid Diseases	Associate	23873102
Thyroid Neoplasms	Associate	31918310
Thyroiditis	Associate	23873102
Tourette Syndrome	Associate	31817742
Urethral Neoplasms	Associate	30064501
Urinary Bladder Neoplasms	Stimulate	21507255
Urinary Bladder Neoplasms	Associate	35685866
von Hippel Lindau Disease	Associate	21917920
Waldenstrom Macroglobulinemia	Associate	20519629

HDAC4 (histone deacetylase 4)