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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79918
Gene name	SET domain containing 6, protein lysine methyltransferase
Gene symbol	SETD6
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16q21
Summary	This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor s

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Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042072	hsa-miR-484	CLASH	23622248
MIRT563253	hsa-miR-3662	PAR-CLIP	20371350
MIRT563252	hsa-miR-3133	PAR-CLIP	20371350
MIRT563251	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT563250	hsa-miR-1252-3p	PAR-CLIP	20371350
MIRT563249	hsa-miR-4678	PAR-CLIP	20371350
MIRT343722	hsa-miR-6869-5p	PAR-CLIP	20371350
MIRT563253	hsa-miR-3662	PAR-CLIP	20371350
MIRT563252	hsa-miR-3133	PAR-CLIP	20371350
MIRT563251	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT563250	hsa-miR-1252-3p	PAR-CLIP	20371350
MIRT563249	hsa-miR-4678	PAR-CLIP	20371350
MIRT343722	hsa-miR-6869-5p	PAR-CLIP	20371350
MIRT1340367	hsa-miR-1225-5p	CLIP-seq
MIRT1340368	hsa-miR-1273d	CLIP-seq
MIRT1340369	hsa-miR-1305	CLIP-seq
MIRT1340370	hsa-miR-133a	CLIP-seq
MIRT1340371	hsa-miR-133b	CLIP-seq
MIRT1340372	hsa-miR-1911	CLIP-seq
MIRT1340373	hsa-miR-21	CLIP-seq
MIRT1340374	hsa-miR-296-3p	CLIP-seq
MIRT1340375	hsa-miR-2964a-5p	CLIP-seq
MIRT1340376	hsa-miR-3152-5p	CLIP-seq
MIRT1340377	hsa-miR-339-5p	CLIP-seq
MIRT1340378	hsa-miR-3613-5p	CLIP-seq
MIRT1340379	hsa-miR-3935	CLIP-seq
MIRT1340380	hsa-miR-3941	CLIP-seq
MIRT1340381	hsa-miR-4281	CLIP-seq
MIRT1340382	hsa-miR-4282	CLIP-seq
MIRT1340383	hsa-miR-433	CLIP-seq
MIRT1340384	hsa-miR-4477a	CLIP-seq
MIRT1340385	hsa-miR-4658	CLIP-seq
MIRT1340386	hsa-miR-466	CLIP-seq
MIRT1340387	hsa-miR-4672	CLIP-seq
MIRT1340388	hsa-miR-4724-3p	CLIP-seq
MIRT1340389	hsa-miR-4758-5p	CLIP-seq
MIRT1340390	hsa-miR-4765	CLIP-seq
MIRT1340391	hsa-miR-4774-3p	CLIP-seq
MIRT1340392	hsa-miR-520a-5p	CLIP-seq
MIRT1340393	hsa-miR-525-5p	CLIP-seq
MIRT1340394	hsa-miR-548ac	CLIP-seq
MIRT1340395	hsa-miR-548ae	CLIP-seq
MIRT1340396	hsa-miR-548aj	CLIP-seq
MIRT1340397	hsa-miR-548am	CLIP-seq
MIRT1340398	hsa-miR-548d-3p	CLIP-seq
MIRT1340399	hsa-miR-548m	CLIP-seq
MIRT1340400	hsa-miR-548x	CLIP-seq
MIRT1340401	hsa-miR-548z	CLIP-seq
MIRT1340402	hsa-miR-555	CLIP-seq
MIRT1340403	hsa-miR-590-5p	CLIP-seq
MIRT1340404	hsa-miR-605	CLIP-seq
MIRT1340405	hsa-miR-629	CLIP-seq
MIRT1340406	hsa-miR-924	CLIP-seq
MIRT1340407	hsa-miR-935	CLIP-seq
MIRT1340408	hsa-miR-1238	CLIP-seq
MIRT1340409	hsa-miR-142-5p	CLIP-seq
MIRT1340410	hsa-miR-340	CLIP-seq
MIRT1340411	hsa-miR-410	CLIP-seq
MIRT1340369	hsa-miR-1305	CLIP-seq
MIRT2100576	hsa-miR-3164	CLIP-seq
MIRT2100577	hsa-miR-3202	CLIP-seq
MIRT2100578	hsa-miR-4682	CLIP-seq
MIRT2100579	hsa-miR-4747-5p	CLIP-seq
MIRT1340399	hsa-miR-548m	CLIP-seq
MIRT2100580	hsa-miR-617	CLIP-seq
MIRT2100581	hsa-miR-873	CLIP-seq
MIRT2325268	hsa-miR-125a-5p	CLIP-seq
MIRT2325269	hsa-miR-125b	CLIP-seq
MIRT2325270	hsa-miR-137	CLIP-seq
MIRT1340409	hsa-miR-142-5p	CLIP-seq
MIRT2325271	hsa-miR-205	CLIP-seq
MIRT2325272	hsa-miR-2113	CLIP-seq
MIRT2325273	hsa-miR-2116	CLIP-seq
MIRT2325274	hsa-miR-3127-5p	CLIP-seq
MIRT2325275	hsa-miR-3938	CLIP-seq
MIRT2325276	hsa-miR-4270	CLIP-seq
MIRT2325277	hsa-miR-4319	CLIP-seq
MIRT2325278	hsa-miR-4324	CLIP-seq
MIRT2325279	hsa-miR-4326	CLIP-seq
MIRT2325280	hsa-miR-4441	CLIP-seq
MIRT2325281	hsa-miR-4732-3p	CLIP-seq
MIRT2325282	hsa-miR-670	CLIP-seq
MIRT2325283	hsa-miR-876-3p	CLIP-seq
MIRT2459158	hsa-miR-2117	CLIP-seq
MIRT2459159	hsa-miR-216a	CLIP-seq
MIRT2459160	hsa-miR-3187-3p	CLIP-seq
MIRT2459161	hsa-miR-361-3p	CLIP-seq
MIRT2459162	hsa-miR-4273	CLIP-seq
MIRT2459163	hsa-miR-4286	CLIP-seq
MIRT2459164	hsa-miR-4496	CLIP-seq
MIRT2459165	hsa-miR-4529-5p	CLIP-seq
MIRT2459166	hsa-miR-4677-5p	CLIP-seq
MIRT2459167	hsa-miR-4713-5p	CLIP-seq
MIRT2459168	hsa-miR-4738-3p	CLIP-seq
MIRT2459169	hsa-miR-4762-5p	CLIP-seq
MIRT2459170	hsa-miR-4790-3p	CLIP-seq
MIRT1340394	hsa-miR-548ac	CLIP-seq
MIRT1340395	hsa-miR-548ae	CLIP-seq
MIRT1340396	hsa-miR-548aj	CLIP-seq
MIRT1340397	hsa-miR-548am	CLIP-seq
MIRT1340398	hsa-miR-548d-3p	CLIP-seq
MIRT1340400	hsa-miR-548x	CLIP-seq
MIRT1340401	hsa-miR-548z	CLIP-seq
MIRT2459171	hsa-miR-885-5p	CLIP-seq
MIRT2459158	hsa-miR-2117	CLIP-seq
MIRT2459159	hsa-miR-216a	CLIP-seq
MIRT2459160	hsa-miR-3187-3p	CLIP-seq
MIRT2621002	hsa-miR-320e	CLIP-seq
MIRT2459161	hsa-miR-361-3p	CLIP-seq
MIRT2459162	hsa-miR-4273	CLIP-seq
MIRT2459163	hsa-miR-4286	CLIP-seq
MIRT2621003	hsa-miR-4427	CLIP-seq
MIRT2621004	hsa-miR-4438	CLIP-seq
MIRT2459164	hsa-miR-4496	CLIP-seq
MIRT2459165	hsa-miR-4529-5p	CLIP-seq
MIRT2459166	hsa-miR-4677-5p	CLIP-seq
MIRT2459167	hsa-miR-4713-5p	CLIP-seq
MIRT2459168	hsa-miR-4738-3p	CLIP-seq
MIRT2459169	hsa-miR-4762-5p	CLIP-seq
MIRT2459170	hsa-miR-4790-3p	CLIP-seq
MIRT2621005	hsa-miR-5095	CLIP-seq
MIRT1340394	hsa-miR-548ac	CLIP-seq
MIRT1340395	hsa-miR-548ae	CLIP-seq
MIRT1340396	hsa-miR-548aj	CLIP-seq
MIRT1340397	hsa-miR-548am	CLIP-seq
MIRT1340398	hsa-miR-548d-3p	CLIP-seq
MIRT1340400	hsa-miR-548x	CLIP-seq
MIRT1340401	hsa-miR-548z	CLIP-seq
MIRT2459171	hsa-miR-885-5p	CLIP-seq
MIRT2459158	hsa-miR-2117	CLIP-seq
MIRT2459159	hsa-miR-216a	CLIP-seq
MIRT2459160	hsa-miR-3187-3p	CLIP-seq
MIRT2459161	hsa-miR-361-3p	CLIP-seq
MIRT2459162	hsa-miR-4273	CLIP-seq
MIRT2459163	hsa-miR-4286	CLIP-seq
MIRT2459164	hsa-miR-4496	CLIP-seq
MIRT2459165	hsa-miR-4529-5p	CLIP-seq
MIRT2459166	hsa-miR-4677-5p	CLIP-seq
MIRT2459167	hsa-miR-4713-5p	CLIP-seq
MIRT2459168	hsa-miR-4738-3p	CLIP-seq
MIRT2459169	hsa-miR-4762-5p	CLIP-seq
MIRT2459170	hsa-miR-4790-3p	CLIP-seq
MIRT1340394	hsa-miR-548ac	CLIP-seq
MIRT1340395	hsa-miR-548ae	CLIP-seq
MIRT1340396	hsa-miR-548aj	CLIP-seq
MIRT1340397	hsa-miR-548am	CLIP-seq
MIRT1340398	hsa-miR-548d-3p	CLIP-seq
MIRT1340400	hsa-miR-548x	CLIP-seq
MIRT1340401	hsa-miR-548z	CLIP-seq
MIRT2459171	hsa-miR-885-5p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21131967
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21131967
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IBA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	21131967, 21515635, 23324626, 30189201
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0018026	Process	Peptidyl-lysine monomethylation	IDA	21131967, 21515635, 30189201
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0019827	Process	Stem cell population maintenance	ISS
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	21131967
GO:0032259	Process	Methylation	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050727	Process	Regulation of inflammatory response	IMP	21131967
GO:0051059	Function	NF-kappaB binding	IPI	21131967
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	21515635

MIM	HGNC	e!Ensembl
616424	26116	ENSG00000103037

Q8TBK2

Protein name

N-lysine methyltransferase SETD6 (EC 2.1.1.-) (SET domain-containing protein 6)

Protein function

Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulation of NF-kappa-B transcription factor activity (PubMed:21131967, PubMed:21515635, PubMed:30189201). Monomethylates 'L

PDB

3QXY , 3RC0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00856	SET	74 → 286	SET domain	Family
PF09273	Rubis-subs-bind	331 → 465	Rubisco LSMT substrate-binding	Domain

Sequence

MATQAKRPRVAGPVDGGDLDPVACFLSWCRRVGLELSPKVSERAGGRRTRGGARAALTSP
PAQVAVSRQGTVAGYGMVARESVQAGELLFVVPRAALLSQHTCSIGGLLERERVALQSQS
GWVPLLLALLHELQAPASRWRPYFALWPELGRLEHPMFWPEEERRCLLQGTGVPEAVEKD
LANIRSEYQSIVLPFMEAHPDLFSLRVRSLELYHQLVALVMAYSFQEPLEEEEDEKEPNS
PVMVPAADILNHLANHNANLEYSANCLRMVATQPIPKGHEIFNTYGQMANWQLIHMYGFV
EPYPDNTDDTADIQMVTVREAALQGTKTEAERHLVYERWDFLCKLEMVGEEGAFVIGREE
VLTEEELTTTLKVLCMPAEEFRELKDQDGGGDDKREEGSLTITNIPKLKASWRQLLQNSV
LLTLQTYATDLKTDQGLLSNKEVYAKLSWREQQALQVRYGQKMILHQLLELTS

Sequence length

473

Interactions

View interactions

	Reactome
			PKMTs methylate histone lysines

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28122346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24751716, 30226578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24751716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28122346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36938730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	28973356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35694846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36604642	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30226578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28122346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28973356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30616239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31081088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28122346	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SETD6 (SET domain containing 6, protein lysine methyltransferase)