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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1786
Gene name Gene Name - the full gene name approved by the HGNC.	DNA methyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNMT1
Synonyms (NCBI Gene) Gene synonyms aliases	ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Me

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs62621089	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141856197	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143904813	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs143925123	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144685297	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant
rs146112081	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	5 prime UTR variant, synonymous variant, coding sequence variant
rs150999369	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199473690	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199473691	GGA>TAT	Pathogenic	Missense variant, coding sequence variant
rs199473692	A>G	Pathogenic	Missense variant, coding sequence variant
rs200024502	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201213597	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201487376	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201774098	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs371779379	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397509391	C>A	Pathogenic	Coding sequence variant, missense variant
rs397509392	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs397509393	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1085307800	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1568234664	C>A	Likely-pathogenic	Splice acceptor variant
rs1599341718	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599366421	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1599366542	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Luciferase reporter assay, Western blot	20483747
MIRT003661	hsa-miR-29b-3p	immunoblot, Luciferase reporter assay, qRT-PCR	19211935
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay	20146264
MIRT004598	hsa-miR-301b-3p	Luciferase reporter assay	20146264
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20841484
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20841484
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	20578129
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR, Western blot	20578129
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21538319
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21538319
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT006443	hsa-miR-342-3p	Luciferase reporter assay, qRT-PCR, Western blot	21565830
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT000020	hsa-miR-148a-3p	Flow, qRT-PCR, Western blot	22167392
MIRT005729	hsa-miR-126-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	21538319
MIRT000020	hsa-miR-148a-3p	Flow, qRT-PCR, Western blot	22167392
MIRT006696	hsa-miR-185-5p	Immunoprecipitaion, Luciferase reporter assay, Microarray, Quantitative proteomic approach, Western blot	21962230
MIRT006890	hsa-miR-140-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22898998
MIRT004456	hsa-miR-152-3p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	23125218
MIRT004456	hsa-miR-152-3p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	23125218
MIRT016347	hsa-miR-193b-3p	Microarray	20304954
MIRT019396	hsa-miR-148b-3p	Microarray	17612493
MIRT020737	hsa-miR-155-5p	Proteomics	18668040
MIRT004456	hsa-miR-152-3p	Reporter assay;Western blot;qRT-PCR	20578129
MIRT050072	hsa-miR-26a-5p	CLASH	23622248
MIRT048504	hsa-miR-100-5p	CLASH	23622248
MIRT046163	hsa-miR-30b-5p	CLASH	23622248
MIRT045615	hsa-miR-149-5p	CLASH	23622248
MIRT041763	hsa-miR-484	CLASH	23622248
MIRT037038	hsa-miR-877-3p	CLASH	23622248
MIRT052671	hsa-miR-1260b	CLASH	23622248
MIRT000020	hsa-miR-148a-3p	qRT-PCR, Western blot	24515776
MIRT046163	hsa-miR-30b-5p	qRT-PCR, Western blot	24913034
MIRT006696	hsa-miR-185-5p	Flow, Immunoprecipitaion, qRT-PCR, Western blot	23846337
MIRT003661	hsa-miR-29b-3p	qRT-PCR, Western blot	23179556
MIRT054264	hsa-miR-200a-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054266	hsa-miR-200b-3p	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT054268	hsa-miR-429	ChIP-seq, qRT-PCR, Western blot	25595591
MIRT437410	hsa-miR-29a-3p	ChIP-seq, qRT-PCR, Western blot	23789939
MIRT438810	hsa-miR-17-5p	Luciferase reporter assay	23306545
MIRT438809	hsa-miR-18a-5p	Luciferase reporter assay	23306545
MIRT438808	hsa-miR-19a-3p	Luciferase reporter assay	23306545
MIRT438807	hsa-miR-19b-3p	Luciferase reporter assay	23306545
MIRT438806	hsa-miR-20a-5p	Luciferase reporter assay	23306545
MIRT438805	hsa-miR-92a-3p	Luciferase reporter assay	23306545
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	24714841
MIRT004456	hsa-miR-152-3p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT006696	hsa-miR-185-5p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT438810	hsa-miR-17-5p	Luciferase reporter assay	23306545
MIRT438809	hsa-miR-18a-5p	Luciferase reporter assay	23306545
MIRT438808	hsa-miR-19a-3p	Luciferase reporter assay	23306545
MIRT438807	hsa-miR-19b-3p	Luciferase reporter assay	23306545
MIRT438806	hsa-miR-20a-5p	Luciferase reporter assay	23306545
MIRT438805	hsa-miR-92a-3p	Luciferase reporter assay	23306545
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	24714841
MIRT004456	hsa-miR-152-3p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT006696	hsa-miR-185-5p	qRT-PCR, Luciferase reporter assay, Western blot	23318422
MIRT440790	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439165	hsa-let-7c-5p	3'LIFE	25074381
MIRT440790	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439165	hsa-let-7c-5p	3'LIFE	25074381
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	26872375
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay	26872375
MIRT006890	hsa-miR-140-5p	Luciferase reporter assay	27021683
MIRT006890	hsa-miR-140-5p	Luciferase reporter assay	27021683
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731984	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT731985	hsa-miR-30c-5p	Luciferase reporter assay, Western blot	28222434
MIRT006443	hsa-miR-342-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	27302063
MIRT437410	hsa-miR-29a-3p	Microarray, qRT-PCR	26251039
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27859417
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27859417
MIRT732849	hsa-miR-17-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33262617
MIRT000020	hsa-miR-148a-3p	qRT-PCR	31615086
MIRT004456	hsa-miR-152-3p	Immunohistochemistry (IHC), Microarray, qRT-PCR	34006907
MIRT000020	hsa-miR-148a-3p	Microarray, qRT-PCR	31564251
MIRT004456	hsa-miR-152-3p	Immunohistochemistry (IHC), qRT-PCR	34006907
MIRT755514	hsa-miR-142-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34321149
MIRT755514	hsa-miR-142-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), in vitro cullelar assays, Flow cytometry	37403081
MIRT755855	hsa-miR-887-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35795731
MIRT019396	hsa-miR-148b-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT004456	hsa-miR-152-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT000020	hsa-miR-148a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35836014
MIRT942509	hsa-miR-3161	CLIP-seq
MIRT942510	hsa-miR-377	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT942512	hsa-miR-34c-3p	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT1979072	hsa-miR-485-3p	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT2214205	hsa-miR-1343	CLIP-seq
MIRT2214206	hsa-miR-140-3p	CLIP-seq
MIRT755514	hsa-miR-142-5p	CLIP-seq
MIRT2214207	hsa-miR-148a	CLIP-seq
MIRT2214208	hsa-miR-148b	CLIP-seq
MIRT2214209	hsa-miR-152	CLIP-seq
MIRT2214210	hsa-miR-2110	CLIP-seq
MIRT2214211	hsa-miR-3147	CLIP-seq
MIRT2214212	hsa-miR-3150a-3p	CLIP-seq
MIRT2214213	hsa-miR-3157-5p	CLIP-seq
MIRT942509	hsa-miR-3161	CLIP-seq
MIRT942512	hsa-miR-34c-3p	CLIP-seq
MIRT2214214	hsa-miR-3529	CLIP-seq
MIRT2214215	hsa-miR-3591-3p	CLIP-seq
MIRT2214216	hsa-miR-3607-5p	CLIP-seq
MIRT2214217	hsa-miR-3692	CLIP-seq
MIRT942510	hsa-miR-377	CLIP-seq
MIRT2214218	hsa-miR-379	CLIP-seq
MIRT2214219	hsa-miR-3922-5p	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT2214220	hsa-miR-4425	CLIP-seq
MIRT2214221	hsa-miR-4436b-5p	CLIP-seq
MIRT2214222	hsa-miR-4450	CLIP-seq
MIRT2214223	hsa-miR-4451	CLIP-seq
MIRT2214224	hsa-miR-4536	CLIP-seq
MIRT2214225	hsa-miR-4643	CLIP-seq
MIRT2214226	hsa-miR-4650-3p	CLIP-seq
MIRT2214227	hsa-miR-4691-3p	CLIP-seq
MIRT2214228	hsa-miR-4717-5p	CLIP-seq
MIRT2214229	hsa-miR-4753-5p	CLIP-seq
MIRT2214230	hsa-miR-4775	CLIP-seq
MIRT2214231	hsa-miR-4781-3p	CLIP-seq
MIRT1979072	hsa-miR-485-3p	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT2214232	hsa-miR-887	CLIP-seq
MIRT942511	hsa-miR-1278	CLIP-seq
MIRT942513	hsa-miR-3973	CLIP-seq
MIRT942514	hsa-miR-4418	CLIP-seq
MIRT2387056	hsa-miR-4668-3p	CLIP-seq
MIRT942515	hsa-miR-509-3-5p	CLIP-seq
MIRT942516	hsa-miR-509-5p	CLIP-seq
MIRT942517	hsa-miR-548k	CLIP-seq
MIRT2387056	hsa-miR-4668-3p	CLIP-seq
MIRT2679378	hsa-miR-548ae	CLIP-seq
MIRT2679379	hsa-miR-548aj	CLIP-seq
MIRT2679380	hsa-miR-548am	CLIP-seq
MIRT2679381	hsa-miR-548x	CLIP-seq

Transcription factors

Show/Hide all(16)

Transcription factor	Regulation	Reference
APC	Repression	12538344
DMAP1	Unknown	20864525
E2F1	Repression	24502362
EP300	Activation	19275888
HBP1	Repression	23249948
HDAC1	Unknown	23242655
HDAC2	Repression	22328086
NPM1	Unknown	19887607
SP1	Activation	19211935;20570896
SP1	Repression	20570896
SP1	Unknown	19201992
STAT3	Activation	16861352;21944426
STAT3	Unknown	19887607;23604529
TP53	Activation	20570896
TP53	Repression	20570896;21478913
TP53	Unknown	18555750

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	10888872
GO:0000792	Component	Heterochromatin	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	18754681
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IBA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	21745816
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	TAS	8940105
GO:0005515	Function	Protein binding	IPI	15161933, 16357870, 16983096, 17673620, 17934516, 17972916, 19282482, 19450230, 19798101, 21151116, 21653829, 21745816, 21947282, 22094255, 24492612, 25544563, 25753001, 27728808, 29691401, 32051553, 35271311
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8940105
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005721	Component	Pericentric heterochromatin	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0006325	Process	Chromatin organization	IEA
GO:0006346	Process	DNA methylation-dependent constitutive heterochromatin formation	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008327	Function	Methyl-CpG binding	IEA
GO:0009008	Function	DNA-methyltransferase activity	IDA	18754681
GO:0009008	Function	DNA-methyltransferase activity	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18413740
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	27021683
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043045	Process	Epigenetic programming of gene expression	IEA
GO:0043073	Component	Germ cell nucleus	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IBA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IDA	18754681, 21745816
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IEA
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	24623306
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	TAS	20820192
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0106222	Function	LncRNA binding	IEA
GO:0141119	Process	Chromosomal DNA methylation maintenance following DNA replication	IEA
GO:0141119	Process	Chromosomal DNA methylation maintenance following DNA replication	TAS	20820192
GO:1903926	Process	Cellular response to bisphenol A	IEA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	27021683
GO:1905460	Process	Negative regulation of vascular associated smooth muscle cell apoptotic process	IMP	27021683
GO:1905931	Process	Negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching	IMP	27021683
GO:1990841	Function	Promoter-specific chromatin binding	IDA	24623306

MIM	HGNC	e!Ensembl
126375	2976	ENSG00000130816

Protein

UniProt ID

P26358

Protein name

DNA (cytosine-5)-methyltransferase 1 (Dnmt1) (EC 2.1.1.37) (CXXC-type zinc finger protein 9) (DNA methyltransferase HsaI) (DNA MTase HsaI) (M.HsaI) (MCMT)

Protein function

Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates

PDB

3EPZ , 3PTA , 3SWR , 4WXX , 4YOC , 4Z96 , 4Z97 , 5WVO , 5YDR , 6K3A , 6L1F , 6X9I , 6X9J , 6X9K , 7SFC , 7SFD , 7SFE , 7SFF , 7SFG , 7XI9 , 7XIB , 8V9U , 8XQC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06464	DMAP_binding	16 → 105	DMAP1-binding Domain	Domain
PF12047	DNMT1-RFD	399 → 534	Cytosine specific DNA methyltransferase replication foci domain	Domain
PF02008	zf-CXXC	645 → 691	CXXC zinc finger domain	Domain
PF01426	BAH	755 → 880	BAH domain	Domain
PF01426	BAH	931 → 1100	BAH domain	Domain
PF00145	DNA_methylase	1139 → 1594	C-5 cytosine-specific DNA methylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous; highly expressed in fetal tissues, heart, kidney, placenta, peripheral blood mononuclear cells, and expressed at lower levels in spleen, lung, brain, small intestine, colon, liver, and skeletal muscle. Isoform 2 is less exp

Sequence

MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQ
LCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRV
GMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKGPAKRKP
QEESERAKSDESIKEEDKDQDEKRRRVTSRERVARPLPAEEPERAKSGTRTEKEEERDEK
EEKRLRSQTKEPTPKQKLKEEPDREARAGVQADEDEDGDEKDEKKHRSQPKDLAAKRRPE
EKEPEKVNPQISDEKDEDEKEEKRRKTTPKEPTEKKMARAKTVMNSKTHPPKCIQCGQYL
DDPDLKYGQHPPDAVDEPQMLTNEKLSIFDANESGFESYEALPQHKLTCFSVYCKHGHLC
PIDTGLIEKNIELFFSGSAKPIYDDDPSLEGGVNGKNLGPINEWWITGFDGGEKALIGFS
TSFAEYILMDPSPEYAPIFGLMQEKIYISKIVVEFLQSNSDSTYEDLINKIETTVPPSGL
NLNRFTEDSLLRHAQFVVEQVESYDEAGDSDEQPIFLTPCMRDLIKLAGVTLGQRRAQAR
RQTIRHSTREKDRGPTKATTTKLVYQIFDTFFAEQIEKDDREDKENAFKRRRCGVCEVCQ
QPECGKCKACKDMVKFGGSGRSKQACQERRCPNMAMKEADDDEEVDDNIPEMPSPKKMHQ
GKKKKQNKNRISWVGEAVKTDGKKSYYKKVCIDAETLEVGDCVSVIPDDSSKPLYLARVT
ALWEDSSNGQMFHAHWFCAGTDTVLGATSDPLELFLVDECEDMQLSYIHSKVKVIYKAPS
ENWAMEGGMDPESLLEGDDGKTYFYQLWYDQDYARFESPPKTQPTEDNKFKFCVSCARLA
EMRQKEIPRVLEQLEDLDSRVLYYSATKNGILYRVGDGVYLPPEAFTFNIKLSSPVKRPR
KEPVDEDLYPEHYRKYSDYIKGSNLDAPEPYRIGRIKEIFCPKKSNGRPNETDIKIRVNK
FYRPENTHKSTPASYHADINLLYWSDEEAVVDFKAVQGRCTVEYGEDLPECVQVYSMGGP
NRFYFLEAYNAKSKSFEDPPNHARSPGNKGKGKGKGKGKPKSQACEPSEPEIEIKLPKLR
TLDVFSGCGGLSEGFHQAGISDTLWAIEMWDPAAQAFRLNNPGSTVFTEDCNILLKLVMA
GETTNSRGQRLPQKGDVEMLCGGPPCQGFSGMNRFNSRTYSKFKNSLVVSFLSYCDYYRP
RFFLLENVRNFVSFKRSMVLKLTLRCLVRMGYQCTFGVLQAGQYGVAQTRRRAIILAAAP
GEKLPLFPEPLHVFAPRACQLSVVVDDKKFVSNITRLSSGPFRTITVRDTMSDLPEVRNG
ASALEISYNGEPQSWFQRQLRGAQYQPILRDHICKDMSALVAARMRHIPLAPGSDWRDLP
NIEVRLSDGTMARKLRYTHHDRKNGRSSSGALRGVCSCVEAGKACDPAARQFNTLIPWCL
PHTGNRHNHWAGLYGRLEWDGFFSTTVTNPEPMGKQGRVLHPEQHRVVSVRECARSQGFP
DTYRLFGNILDKHRQVGNAVPPPLAKAIGLEIKLCMLAKARESASAKIKEEEAAKD

Sequence length

1616

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer		PRC2 methylates histones and DNA SUMOylation of DNA methylation proteins

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar Ataxia, Deafness And Narcolepsy	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	rs199473690, rs397509391, rs397509392, rs397509393, rs1599341718	N/A
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs199473690	N/A
Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome	hereditary sensory neuropathy-deafness-dementia syndrome	rs199473691, rs397509391, rs397509392, rs397509393, rs199473692, rs199473690	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Beckwith-Wiedemann Syndrome	beckwith-wiedemann syndrome	N/A	N/A	ClinVar
Hypertension	Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Meningioma	meningioma	N/A	N/A	ClinVar
Otosclerosis	Otosclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (284)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute On Chronic Liver Failure	Stimulate	38452586
Adenocarcinoma	Associate	25923331
Adenocarcinoma Bronchiolo Alveolar	Associate	19484794
Adenocarcinoma of Lung	Associate	32945503, 34045189
Adenomatous Polyposis Coli	Associate	21347319
Adrenocortical Carcinoma	Associate	37528470
Allergic Fungal Sinusitis	Stimulate	35328422
Alzheimer Disease	Associate	18628954, 19117641, 23308199, 23365052, 36646969
Amyotrophic Lateral Sclerosis	Associate	26210997, 38013317
Aneuploidy	Associate	32057913
Aortic Aneurysm Abdominal	Associate	31001930
Arsenic Poisoning	Associate	31864032
Arthritis	Associate	28349196
Arthritis Rheumatoid	Associate	23277489, 25042153, 26464634
Arthritis Rheumatoid	Inhibit	26330155
Ataxia	Associate	22328086, 27602171, 31957642
Ataxia Telangiectasia	Associate	24025864
Atherosclerosis	Associate	33649864
Atrophy	Associate	23049933, 37861555
Autism Spectrum Disorder	Associate	25578964, 30786140
Autistic Disorder	Associate	30786140
Azoospermia	Associate	25739334
Barrett Esophagus	Associate	24025864
Beckwith Wiedemann Syndrome	Associate	14511489, 30165906
beta Thalassemia	Associate	33227819
Biliary Atresia	Associate	29748604
Bipolar Disorder	Associate	15684088, 17270400, 25476119, 34282735
Bloom Syndrome	Stimulate	22520950
Brain Neoplasms	Associate	24492612
Breast Neoplasms	Associate	14614325, 15755728, 16322686, 18221536, 18505931, 18670789, 19358274, 19459041, 20625516, 21655924, 22520950, 22664488, 22935141, 24502362, 25178277 View all (23 more)
Breast Neoplasms	Inhibit	27159275
Burkitt Lymphoma	Associate	32424339
Carcinogenesis	Associate	15087453, 16053511, 16230360, 18065205, 20354000, 20467490, 21999220, 24423239, 24637615, 24675762, 26120002, 26162541, 26307088, 26862732, 29975921 View all (6 more)
Carcinoma Adenoid Cystic	Associate	26535659
Carcinoma Ductal	Associate	16053511
Carcinoma Ductal Breast	Associate	22455563
Carcinoma Hepatocellular	Associate	20044957, 20398055, 21625215, 23145177, 23545144, 26099202, 26254611, 26575952, 26850594, 28321157, 28627705, 29425759, 30575322, 31002127, 33247696 View all (4 more)
Carcinoma in Situ	Associate	18065205, 24292451
Carcinoma Mucoepidermoid	Associate	15999364
Carcinoma Non Small Cell Lung	Associate	16888795, 18414412, 24445599, 25598321, 25927928, 26362062, 27177222, 28840963, 34957997, 35996715, 36778111
Carcinoma Ovarian Epithelial	Associate	22768205, 23390377, 27322684
Carcinoma Pancreatic Ductal	Associate	16053511, 24423239, 27261509, 36076515
Carcinoma Renal Cell	Associate	24849932, 25550796, 28160561, 34133843
Carcinoma Squamous Cell	Associate	18414412, 20951977
Cardiomyopathy Dilated	Inhibit	34713710
Cardiovascular Diseases	Associate	30548403
Carotid Stenosis	Associate	33649864
Cataplexy	Associate	31957642
Cell Transformation Neoplastic	Associate	35798319
Cerebellar Ataxia	Associate	23365052, 23904686, 24727570, 27602171, 30342480, 37584462
Cerebellar Ataxia Deafness and Narcolepsy	Associate	22328086, 23904686, 24727570, 25033457, 27602171, 37584462
Cerebral Infarction	Associate	36802116
Chemotherapy Related Cognitive Impairment	Associate	31601979
Cholangiocarcinoma	Associate	22819820, 25799509, 35550144, 37486965
Cholestasis	Associate	35550144
Cognition Disorders	Associate	25678562, 27602171, 31601979
Cognitive Dysfunction	Associate	23365052
Colitis Ulcerative	Associate	26862732, 33980925
Colonic Neoplasms	Associate	26307088, 34086943
Colorectal Neoplasms	Associate	16230360, 17307743, 18198215, 19723660, 20354000, 21123457, 21408221, 21785137, 22415137, 22961839, 23368921, 23708667, 24172061, 24518414, 25107489 View all (18 more)
Colorectal Neoplasms	Inhibit	24324066
Coronary Artery Disease	Inhibit	29410709
Coronary Artery Disease	Associate	30857550
COVID 19	Associate	36840831
Deafness	Associate	23365052, 23904686, 24727570, 25678562, 27602171, 30342480, 37584462
Death	Stimulate	18414412
Dementia	Associate	21532572, 23365052
Depressive Disorder	Inhibit	34230007
Depressive Disorder	Associate	38013317
Depressive Disorder Major	Associate	34282735
Developmental Disabilities	Associate	35172867
Diabetes Complications	Associate	30548403
Diabetes Gestational	Associate	34580843
Diabetes Mellitus	Associate	34233433
Diabetes Mellitus Type 1	Inhibit	28215845
Diabetes Mellitus Type 1	Associate	28215845, 30548403
Diabetic Nephropathies	Associate	30496316, 30548403, 37861555
Diabetic Nephropathies	Stimulate	36765416
Drug Related Side Effects and Adverse Reactions	Associate	23533674, 24172061
Drug Related Side Effects and Adverse Reactions	Inhibit	27457352, 35789380
Dysplastic Nevus Syndrome	Associate	35550144
Ehlers Danlos Syndrome	Associate	32274919
Endometrial Neoplasms	Associate	21316665, 21543766, 24497324, 29228451
Endometriosis	Associate	17081533, 32802844
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epilepsy Temporal Lobe	Associate	31426844
Epstein Barr Virus Infections	Inhibit	21752916
Epstein Barr Virus Infections	Stimulate	26032781
Epstein Barr Virus Infections	Associate	40116629
Escherichia coli Infections	Stimulate	21242958
Esophageal Neoplasms	Associate	22901195, 25337902
Esophageal Squamous Cell Carcinoma	Associate	25886188, 25923331, 30363984, 31226958, 31962291, 33345608
Esophagitis	Associate	22901195
Essential Hypertension	Associate	29400588
Fatty Liver Alcoholic	Inhibit	29425759
Fetal Growth Retardation	Associate	23867713, 33389447
Fibrosis	Associate	27554481, 34593020, 37861555
Fragile X Syndrome	Associate	11359795
Frontotemporal Dementia	Associate	23365052
Fuchs' Endothelial Dystrophy	Associate	32636303
Gallbladder Neoplasms	Associate	29693707
Genetic Diseases Inborn	Associate	23365052, 24727570, 30342480
Glioblastoma	Associate	22264301, 25328136, 28036297, 28764788, 30982493
Glioma	Associate	22264301, 25328136, 28036297, 28764788, 30982493, 32882013, 34227028, 35798319, 37330579, 37481646
Glomerulonephritis IGA	Associate	34861820
Glomerulonephritis IGA	Stimulate	39516745
Glucosephosphate Dehydrogenase Deficiency	Associate	23530769
Graves Disease	Associate	23039890, 25617714, 27237591
Head and Neck Neoplasms	Associate	33919657
Hearing Loss	Associate	21532572, 23365052, 24727570, 25678562, 27602171, 30111769, 30342480
Hearing Loss Noise Induced	Associate	30111769
Hearing Loss Sensorineural	Associate	28414276
Hearing Loss Sudden	Associate	28414276
Heart Diseases	Associate	30548403
Heart Valve Diseases	Associate	34482802
Helicobacter Infections	Associate	23049933, 36147796
Hemangiosarcoma	Associate	33016928
Hematologic Neoplasms	Inhibit	36309209
Hemoglobinopathies	Associate	33227819
Hemolytic Uremic Syndrome	Associate	23025388
Hepatitis B	Associate	20044957
Hepatitis B Chronic	Associate	38452586
Hepatitis C	Associate	23545144
Hepatitis C	Stimulate	26850594
Hepatitis C Chronic	Associate	26850594
Hepatoblastoma	Associate	38285887
Hereditary Sensory and Autonomic Neuropathies	Associate	21532572, 23365052, 24727570, 25033457, 25678562, 30548403
Hereditary Sensory and Autonomic Neuropathy Type Ie	Associate	22328086, 23365052, 25033457
Hidradenitis Suppurativa	Associate	39940809
HIV Infections	Inhibit	23846566
HIV Infections	Associate	27854146, 33045438
Hodgkin Disease	Inhibit	21752916
Hypertension	Associate	29400588
Hypertensive Retinopathy	Associate	30548403
Hypertrophy	Associate	34593020
Hypoxia	Inhibit	20543577, 25794157
Hypoxia	Stimulate	35244512
Hypoxia	Associate	35781537
Hypoxia Brain	Inhibit	34691018
Immune System Diseases	Associate	36427447
Immunodeficiency syndrome variable	Associate	16532039
Infant Premature Diseases	Associate	36788602
Infections	Associate	23545144, 36147796
Infertility	Associate	23075413, 28894282
Infertility Male	Associate	28894282
Inflammation	Stimulate	16053511, 27071379
Inflammation	Associate	20354000, 21830274, 35581740, 36754452, 37459905, 37861555
Inflammation	Inhibit	30037017, 33542783
Inflammatory Bowel Diseases	Associate	22595877
Influenza Human	Associate	37631988
Intestinal Diseases	Associate	27190044
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	27217339
Ischemia	Associate	20543577
Kidney Diseases	Associate	37861555
Laryngeal Neoplasms	Associate	34427325
Leukemia	Associate	11222358, 25948775, 29120412, 31628193, 34073721, 38345160
Leukemia Large Granular Lymphocytic	Associate	34075200
Leukemia Lymphocytic Chronic B Cell	Associate	28480959
Leukemia Lymphoma Adult T Cell	Associate	31628193, 34906138
Leukemia Monocytic Acute	Associate	27992360
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	11222358
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32225105
Leukemia Myeloid Acute	Associate	11222358, 19211935, 19279403, 19509169, 22976956, 26686245, 27259275, 29674693, 31060628, 32597790, 33356802, 35285586, 36329185, 38164802
Leukemia Myelomonocytic Juvenile	Associate	29259247
Leukemia Promyelocytic Acute	Associate	22820861
Leukoplakia Oral	Associate	20951977
Liver Cirrhosis Biliary	Associate	31948396
Lung Neoplasms	Associate	15087453, 16434257, 21246532, 24244422, 28427182, 31746077, 35996715, 38376279
Lung Neoplasms	Stimulate	24441677
Lung Neoplasms	Inhibit	29568927
Lupus Erythematosus Systemic	Inhibit	15879118, 28349196
Lupus Erythematosus Systemic	Associate	15879118, 18194272, 19380809, 21538319, 23775084, 24577881, 25986394, 32248020, 33282947
Lymphatic Metastasis	Associate	25550796
Lymphoma	Associate	31628193
Lymphoma Large B Cell Diffuse	Associate	20398054, 34751409
Lymphoma Non Hodgkin	Associate	33400376
Lymphoma T Cell Peripheral	Associate	34108263
Medulloblastoma	Associate	27543768
Melanoma	Associate	16510600, 32679231, 36397155
Melanoma Cutaneous Malignant	Associate	29313974
Melanosis	Stimulate	31143777
Memory Disorders	Associate	23365052
Meningioma	Associate	23441133
Mental Disorders	Associate	23365052, 25678562, 30342480
Mesothelioma	Associate	20587528
Mesothelioma Malignant	Associate	16434257, 19233506
Metabolic Syndrome	Associate	39819282
Microphthalmia Syndromic 10	Associate	25678562
Movement Disorders	Associate	35172867
Mucocutaneous Lymph Node Syndrome	Associate	31171909
Mucositis	Associate	37372315
Multiple Myeloma	Associate	23087257, 24875904, 25330074, 28186131
Multiple Sclerosis	Inhibit	24735979
Myelodysplastic Syndromes	Associate	20004793, 25122688, 27457352, 32431489
N syndrome	Associate	32636303
Narcolepsy	Associate	22328086, 23365052, 23904686, 24727570, 25033457, 25197808, 25678562, 27602171, 30342480, 32669953, 37584462
Nasopharyngeal Carcinoma	Associate	29795311, 30353102
Neoplasm Metastasis	Associate	21765477, 28159994, 30353102, 30537986, 37916731, 37967200
Neoplasms	Associate	10773079, 11604495, 12015329, 12888529, 15178346, 15755728, 16193335, 16230360, 16322686, 16434257, 16510600, 16532039, 17312023, 17456764, 17991895 View all (78 more)
Neoplasms	Inhibit	11222358, 11733524, 14519846, 15087453, 18198215, 18204201, 19383817, 23368921, 23441133, 24448385, 24475290, 24676085, 26162541, 26250467, 30178275, 33795533, 37147733, 37470582 View all (3 more)
Neoplasms	Stimulate	20354000, 21365007, 21523767, 32918845, 35550144
Neural Tube Defects	Associate	36394275
Neuroblastoma	Inhibit	20841484
Neurodegenerative Diseases	Associate	21532572, 31984424
Neurofibrosarcoma	Associate	33707600, 35789380
Neurologic Manifestations	Associate	25678562
Neutropenia	Associate	33509441
Nevus	Stimulate	32679231
Non Muscle Invasive Bladder Neoplasms	Associate	25284287
Norrie disease	Associate	19117641
Obesity	Associate	26527284, 29400588, 34139469, 35712246
Optic Atrophy	Associate	33270637, 37584462
Osteoarthritis	Associate	35288246
Osteomyelitis	Associate	37459905
Osteosarcoma	Associate	31114984
Ovarian Diseases	Associate	34799276
Ovarian Neoplasms	Associate	16532039, 19331143, 22430797, 22768205, 23666104, 24475290, 27195958, 28222434, 29367628, 29759079, 33289590, 37386587
Pancreatic Intraductal Neoplasms	Associate	25607660
Pancreatic Neoplasms	Associate	20234167, 22110720, 24448385, 25960197, 27261509, 33416135, 34854226
Papillomavirus Infections	Associate	36692670
Paraplegia	Associate	27217339
Parkinson Disease	Associate	26889637
Peripheral Nervous System Diseases	Associate	21532572, 30342480
Personality Disorders	Stimulate	30002361
Peutz Jeghers Syndrome	Associate	32799895
Pierre Robin Syndrome	Associate	23365052
Pituitary Neoplasms	Associate	30002361
Polycystic Ovary Syndrome	Associate	33212300
Polyneuropathies	Associate	30548403
Posterior Capsular Rupture Ocular	Associate	22259221
Precancerous Conditions	Associate	16053511
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21239472
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36289338
Premature Birth	Associate	36788602
Progressive Transformation of Germinal Centers	Associate	21752916
Prostatic Hyperplasia	Associate	25738352, 28735516
Prostatic Neoplasms	Associate	18637271, 21990314, 22539223, 23888969, 24001151, 25349215, 25738352, 25938433, 31090214, 34227253, 36050516, 37900138, 37967200, 40022828
Prostatic Neoplasms Castration Resistant	Stimulate	35483199
Prostatic Neoplasms Castration Resistant	Associate	37967200
Prostatitis	Associate	30628163
Psychotic Disorders	Associate	15684088, 17270400
Pulmonary Arterial Hypertension	Associate	35244512, 35581740
Pulmonary Disease Chronic Obstructive	Associate	30686068
Radiation Injuries	Associate	27554481
Renal Insufficiency	Associate	25678562, 32248020
Renal Insufficiency Chronic	Associate	27992360
Retinal Dysplasia	Stimulate	16053511
Rufous oculocutaneous albinism	Stimulate	36399874
Sarcoma Ewing	Associate	35712255
Sarcoma Kaposi	Associate	24675762
Schizophrenia	Associate	15684088, 25476119, 34282735
Schizophrenia	Stimulate	17270400
Scleroderma Systemic	Associate	23041765, 25986394
Seizures	Associate	23365052, 25678562
Sepsis	Associate	36427447
Sjogren's Syndrome	Associate	29074164
Small Cell Lung Carcinoma	Associate	28159994, 29559689
Spastic Paraplegia Hereditary	Associate	27217339
Spinal Dysraphism	Associate	36394275
Spinocerebellar Ataxias	Associate	31984424
Squamous Cell Carcinoma of Head and Neck	Associate	19430297, 22461910, 22847005, 28814981, 33369458, 34427325, 37876534
Squamous Cell Carcinoma of Head and Neck	Stimulate	33500531, 37667354
Stomach Neoplasms	Associate	15526354, 22942708, 23049933, 23549984, 25009393, 27087738, 33527791, 35278883, 35549646, 36147796, 37147733, 37691391
Stomatitis	Associate	37372315
Sveinsson Chorioretinal Atrophy	Associate	25004396
Testicular Germ Cell Tumor	Associate	17548962, 25231260
Testicular Neoplasms	Associate	23619976
Thrombocytopenia	Associate	33509441
Thyroid Cancer Papillary	Associate	25378232, 30915752, 31591432, 34104084
Thyroid Neoplasms	Associate	29389913, 32390600
Thyroiditis Autoimmune	Associate	27237591
Triple Negative Breast Neoplasms	Associate	26162541, 26459286, 37548553, 38356412
Triple Negative Breast Neoplasms	Stimulate	27071379
Tuberculosis Multidrug Resistant	Associate	21106767
Urinary Bladder Neoplasms	Associate	21523767, 25284287, 25865490, 27906180, 28848075, 35685866, 35880568
Urinary Bladder Neoplasms	Stimulate	28851690
Urogenital Neoplasms	Associate	25349215
Urologic Neoplasms	Associate	25349215
Usher Syndrome Type IE	Associate	22595877
Uterine Cervical Dysplasia	Associate	16053511, 18065205
Uterine Cervical Neoplasms	Associate	21999220, 23688286, 27509954, 28077801, 31068247, 33616161, 36692670, 39233331, 39331483
Vascular Calcification	Associate	24441913
Vascular Ring	Associate	35712246
Vulvar Lichen Sclerosus	Stimulate	33438816

DNMT1 (DNA methyltransferase 1)