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	29104
Gene name	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine
Gene symbol	HEMK2
Synonyms (NCBI Gene)	C21orf127KMT9MTQ2N6AMTN6AMT1PRED28PrmCm.HsaHemK2P
Chromosome	21
Chromosome location	21q21.3

223

Show/Hide all (223)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029107	hsa-miR-26b-5p	Microarray	19088304
MIRT048642	hsa-miR-99a-5p	CLASH	23622248
MIRT496459	hsa-miR-3929	PAR-CLIP	22291592
MIRT496458	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496457	hsa-miR-4478	PAR-CLIP	22291592
MIRT496456	hsa-miR-6748-3p	PAR-CLIP	22291592
MIRT496455	hsa-miR-4421	PAR-CLIP	22291592
MIRT496454	hsa-miR-5699-3p	PAR-CLIP	22291592
MIRT496453	hsa-miR-4427	PAR-CLIP	22291592
MIRT496452	hsa-miR-5187-3p	PAR-CLIP	22291592
MIRT496451	hsa-miR-4680-3p	PAR-CLIP	22291592
MIRT496450	hsa-miR-20b-3p	PAR-CLIP	22291592
MIRT496449	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT496448	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT496459	hsa-miR-3929	PAR-CLIP	22291592
MIRT496458	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496457	hsa-miR-4478	PAR-CLIP	22291592
MIRT496456	hsa-miR-6748-3p	PAR-CLIP	22291592
MIRT496455	hsa-miR-4421	PAR-CLIP	22291592
MIRT496454	hsa-miR-5699-3p	PAR-CLIP	22291592
MIRT496453	hsa-miR-4427	PAR-CLIP	22291592
MIRT496452	hsa-miR-5187-3p	PAR-CLIP	22291592
MIRT496451	hsa-miR-4680-3p	PAR-CLIP	22291592
MIRT496450	hsa-miR-20b-3p	PAR-CLIP	22291592
MIRT496449	hsa-miR-3120-5p	PAR-CLIP	22291592
MIRT496448	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT1171265	hsa-miR-1244	CLIP-seq
MIRT1171266	hsa-miR-1285	CLIP-seq
MIRT1171267	hsa-miR-1292	CLIP-seq
MIRT1171268	hsa-miR-147	CLIP-seq
MIRT1171269	hsa-miR-148a	CLIP-seq
MIRT1171270	hsa-miR-148b	CLIP-seq
MIRT1171271	hsa-miR-152	CLIP-seq
MIRT1171272	hsa-miR-155	CLIP-seq
MIRT1171273	hsa-miR-199a-3p	CLIP-seq
MIRT1171274	hsa-miR-199b-3p	CLIP-seq
MIRT1171275	hsa-miR-2054	CLIP-seq
MIRT1171276	hsa-miR-2110	CLIP-seq
MIRT1171277	hsa-miR-224	CLIP-seq
MIRT1171278	hsa-miR-299-5p	CLIP-seq
MIRT1171279	hsa-miR-3074-3p	CLIP-seq
MIRT1171280	hsa-miR-3129-5p	CLIP-seq
MIRT1171281	hsa-miR-3152-5p	CLIP-seq
MIRT1171282	hsa-miR-3168	CLIP-seq
MIRT1171283	hsa-miR-3187-5p	CLIP-seq
MIRT1171284	hsa-miR-3190	CLIP-seq
MIRT1171285	hsa-miR-376a	CLIP-seq
MIRT1171286	hsa-miR-376b	CLIP-seq
MIRT1171287	hsa-miR-378g	CLIP-seq
MIRT1171288	hsa-miR-3911	CLIP-seq
MIRT1171289	hsa-miR-4271	CLIP-seq
MIRT1171290	hsa-miR-4282	CLIP-seq
MIRT1171291	hsa-miR-4292	CLIP-seq
MIRT1171292	hsa-miR-4314	CLIP-seq
MIRT1171293	hsa-miR-4423-5p	CLIP-seq
MIRT1171294	hsa-miR-4471	CLIP-seq
MIRT1171295	hsa-miR-4486	CLIP-seq
MIRT1171296	hsa-miR-4519	CLIP-seq
MIRT1171297	hsa-miR-4530	CLIP-seq
MIRT1171298	hsa-miR-4667-5p	CLIP-seq
MIRT1171299	hsa-miR-4700-5p	CLIP-seq
MIRT1171300	hsa-miR-4717-5p	CLIP-seq
MIRT1171301	hsa-miR-4725-3p	CLIP-seq
MIRT1171302	hsa-miR-4725-5p	CLIP-seq
MIRT1171303	hsa-miR-4790-3p	CLIP-seq
MIRT1171304	hsa-miR-504	CLIP-seq
MIRT1171305	hsa-miR-509-3p	CLIP-seq
MIRT1171306	hsa-miR-548p	CLIP-seq
MIRT1171307	hsa-miR-578	CLIP-seq
MIRT1171308	hsa-miR-583	CLIP-seq
MIRT1171309	hsa-miR-603	CLIP-seq
MIRT1171310	hsa-miR-612	CLIP-seq
MIRT1171311	hsa-miR-643	CLIP-seq
MIRT1171312	hsa-miR-644	CLIP-seq
MIRT1171313	hsa-miR-645	CLIP-seq
MIRT1171314	hsa-miR-1267	CLIP-seq
MIRT1171266	hsa-miR-1285	CLIP-seq
MIRT1171315	hsa-miR-1297	CLIP-seq
MIRT1171269	hsa-miR-148a	CLIP-seq
MIRT1171270	hsa-miR-148b	CLIP-seq
MIRT1171271	hsa-miR-152	CLIP-seq
MIRT1171276	hsa-miR-2110	CLIP-seq
MIRT1171277	hsa-miR-224	CLIP-seq
MIRT1171316	hsa-miR-24	CLIP-seq
MIRT1171317	hsa-miR-26a	CLIP-seq
MIRT1171318	hsa-miR-26b	CLIP-seq
MIRT1171279	hsa-miR-3074-3p	CLIP-seq
MIRT1171283	hsa-miR-3187-5p	CLIP-seq
MIRT1171319	hsa-miR-3919	CLIP-seq
MIRT1171289	hsa-miR-4271	CLIP-seq
MIRT1171320	hsa-miR-4272	CLIP-seq
MIRT1171321	hsa-miR-4283	CLIP-seq
MIRT1171291	hsa-miR-4292	CLIP-seq
MIRT1171322	hsa-miR-4302	CLIP-seq
MIRT1171323	hsa-miR-4437	CLIP-seq
MIRT1171324	hsa-miR-4463	CLIP-seq
MIRT1171325	hsa-miR-4465	CLIP-seq
MIRT1171326	hsa-miR-4494	CLIP-seq
MIRT1171296	hsa-miR-4519	CLIP-seq
MIRT1171297	hsa-miR-4530	CLIP-seq
MIRT1171298	hsa-miR-4667-5p	CLIP-seq
MIRT1171299	hsa-miR-4700-5p	CLIP-seq
MIRT1171327	hsa-miR-4710	CLIP-seq
MIRT1171300	hsa-miR-4717-5p	CLIP-seq
MIRT1171301	hsa-miR-4725-3p	CLIP-seq
MIRT1171302	hsa-miR-4725-5p	CLIP-seq
MIRT1171328	hsa-miR-4742-5p	CLIP-seq
MIRT1171329	hsa-miR-4756-3p	CLIP-seq
MIRT1171330	hsa-miR-4771	CLIP-seq
MIRT1171303	hsa-miR-4790-3p	CLIP-seq
MIRT1171331	hsa-miR-4792	CLIP-seq
MIRT1171332	hsa-miR-489	CLIP-seq
MIRT1171304	hsa-miR-504	CLIP-seq
MIRT1171333	hsa-miR-593	CLIP-seq
MIRT1171310	hsa-miR-612	CLIP-seq
MIRT1171313	hsa-miR-645	CLIP-seq
MIRT1171334	hsa-miR-663b	CLIP-seq
MIRT2049430	hsa-miR-2278	CLIP-seq
MIRT2049431	hsa-miR-4327	CLIP-seq
MIRT2049432	hsa-miR-4641	CLIP-seq
MIRT1171307	hsa-miR-578	CLIP-seq
MIRT2049433	hsa-miR-646	CLIP-seq
MIRT2049434	hsa-miR-940	CLIP-seq
MIRT2049435	hsa-miR-513a-3p	CLIP-seq
MIRT2278402	hsa-miR-1243	CLIP-seq
MIRT2278403	hsa-miR-371-5p	CLIP-seq
MIRT2278404	hsa-miR-4457	CLIP-seq
MIRT2278405	hsa-miR-513b	CLIP-seq
MIRT2391311	hsa-miR-3148	CLIP-seq
MIRT2454786	hsa-miR-3163	CLIP-seq
MIRT1171290	hsa-miR-4282	CLIP-seq
MIRT2454787	hsa-miR-4301	CLIP-seq
MIRT2278404	hsa-miR-4457	CLIP-seq
MIRT2278405	hsa-miR-513b	CLIP-seq
MIRT1171308	hsa-miR-583	CLIP-seq
MIRT2454786	hsa-miR-3163	CLIP-seq
MIRT1171290	hsa-miR-4282	CLIP-seq
MIRT2278404	hsa-miR-4457	CLIP-seq
MIRT2278405	hsa-miR-513b	CLIP-seq
MIRT2576693	hsa-miR-1	CLIP-seq
MIRT2278402	hsa-miR-1243	CLIP-seq
MIRT2576694	hsa-miR-1257	CLIP-seq
MIRT2576695	hsa-miR-1269	CLIP-seq
MIRT2576696	hsa-miR-1269b	CLIP-seq
MIRT2576697	hsa-miR-1288	CLIP-seq
MIRT2576698	hsa-miR-1291	CLIP-seq
MIRT2576699	hsa-miR-1343	CLIP-seq
MIRT1171268	hsa-miR-147	CLIP-seq
MIRT1171272	hsa-miR-155	CLIP-seq
MIRT1171275	hsa-miR-2054	CLIP-seq
MIRT2576700	hsa-miR-206	CLIP-seq
MIRT2576701	hsa-miR-3135b	CLIP-seq
MIRT2454786	hsa-miR-3163	CLIP-seq
MIRT2576702	hsa-miR-3173-5p	CLIP-seq
MIRT2576703	hsa-miR-320e	CLIP-seq
MIRT2576704	hsa-miR-328	CLIP-seq
MIRT2576705	hsa-miR-329	CLIP-seq
MIRT2576706	hsa-miR-3612	CLIP-seq
MIRT2576707	hsa-miR-362-3p	CLIP-seq
MIRT2576708	hsa-miR-3650	CLIP-seq
MIRT2576709	hsa-miR-3654	CLIP-seq
MIRT2576710	hsa-miR-3690	CLIP-seq
MIRT1171288	hsa-miR-3911	CLIP-seq
MIRT2576711	hsa-miR-3941	CLIP-seq
MIRT2576712	hsa-miR-3975	CLIP-seq
MIRT2576713	hsa-miR-4254	CLIP-seq
MIRT1171290	hsa-miR-4282	CLIP-seq
MIRT2576714	hsa-miR-4443	CLIP-seq
MIRT2278404	hsa-miR-4457	CLIP-seq
MIRT2576715	hsa-miR-4476	CLIP-seq
MIRT2576716	hsa-miR-4493	CLIP-seq
MIRT2576717	hsa-miR-4515	CLIP-seq
MIRT2576718	hsa-miR-4535	CLIP-seq
MIRT2576719	hsa-miR-4536	CLIP-seq
MIRT2576720	hsa-miR-4666-5p	CLIP-seq
MIRT2576721	hsa-miR-4682	CLIP-seq
MIRT2576722	hsa-miR-4722-3p	CLIP-seq
MIRT2576723	hsa-miR-4740-5p	CLIP-seq
MIRT2576724	hsa-miR-4760-3p	CLIP-seq
MIRT2576725	hsa-miR-4764-5p	CLIP-seq
MIRT2576726	hsa-miR-4766-5p	CLIP-seq
MIRT2576727	hsa-miR-4769-3p	CLIP-seq
MIRT2576728	hsa-miR-4780	CLIP-seq
MIRT2576729	hsa-miR-4802-5p	CLIP-seq
MIRT2576730	hsa-miR-492	CLIP-seq
MIRT2576731	hsa-miR-493	CLIP-seq
MIRT2576732	hsa-miR-501-3p	CLIP-seq
MIRT2576733	hsa-miR-502-3p	CLIP-seq
MIRT2278405	hsa-miR-513b	CLIP-seq
MIRT2576734	hsa-miR-539	CLIP-seq
MIRT1171307	hsa-miR-578	CLIP-seq
MIRT1171309	hsa-miR-603	CLIP-seq
MIRT2576735	hsa-miR-613	CLIP-seq
MIRT1171311	hsa-miR-643	CLIP-seq
MIRT1171312	hsa-miR-644	CLIP-seq
MIRT2576736	hsa-miR-650	CLIP-seq
MIRT2576737	hsa-miR-767-5p	CLIP-seq
MIRT2576698	hsa-miR-1291	CLIP-seq
MIRT2576701	hsa-miR-3135b	CLIP-seq
MIRT2454786	hsa-miR-3163	CLIP-seq
MIRT2576702	hsa-miR-3173-5p	CLIP-seq
MIRT2576703	hsa-miR-320e	CLIP-seq
MIRT2576704	hsa-miR-328	CLIP-seq
MIRT2576705	hsa-miR-329	CLIP-seq
MIRT2576706	hsa-miR-3612	CLIP-seq
MIRT2576707	hsa-miR-362-3p	CLIP-seq
MIRT2576708	hsa-miR-3650	CLIP-seq
MIRT2576711	hsa-miR-3941	CLIP-seq
MIRT2576712	hsa-miR-3975	CLIP-seq
MIRT1171290	hsa-miR-4282	CLIP-seq
MIRT2576714	hsa-miR-4443	CLIP-seq
MIRT2278404	hsa-miR-4457	CLIP-seq
MIRT2576715	hsa-miR-4476	CLIP-seq
MIRT2576716	hsa-miR-4493	CLIP-seq
MIRT2576720	hsa-miR-4666-5p	CLIP-seq
MIRT2576722	hsa-miR-4722-3p	CLIP-seq
MIRT2576726	hsa-miR-4766-5p	CLIP-seq
MIRT2576727	hsa-miR-4769-3p	CLIP-seq
MIRT2576729	hsa-miR-4802-5p	CLIP-seq
MIRT2576731	hsa-miR-493	CLIP-seq
MIRT2278405	hsa-miR-513b	CLIP-seq
MIRT1171309	hsa-miR-603	CLIP-seq
MIRT2576736	hsa-miR-650	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	18539146, 25851604, 31061526, 31632689, 31636962, 34948388
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008276	Function	Protein methyltransferase activity	IBA
GO:0008276	Function	Protein methyltransferase activity	IDA	18539146, 31632689
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IBA
GO:0009007	Function	Site-specific DNA-methyltransferase (adenine-specific) activity	IDA	30392959, 31632689, 31636962
GO:0009007	Function	Site-specific DNA-methyltransferase (adenine-specific) activity	IDA	30017583
GO:0009404	Process	Toxin metabolic process	IDA	25997655
GO:0016740	Function	Transferase activity	IEA
GO:0018364	Process	Peptidyl-glutamine methylation	IDA	18539146, 31636962
GO:0018872	Process	Arsonoacetate metabolic process	IDA	25997655
GO:0030307	Process	Positive regulation of cell growth	IDA	18539146
GO:0030791	Function	Arsenite methyltransferase activity	IDA	25997655
GO:0032259	Process	Methylation	IDA	25997655
GO:0032259	Process	Methylation	IEA
GO:0032991	Component	Protein-containing complex	IDA	18539146
GO:0035657	Component	ERF1 methyltransferase complex	IBA
GO:0036009	Function	Protein-glutamine N-methyltransferase activity	IDA	18539146, 31632689, 31636962
GO:0036009	Function	Protein-glutamine N-methyltransferase activity	IEA
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IDA	30017583
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	31061526
GO:0140984	Function	Histone H4K12 methyltransferase activity	IDA	31061526
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	31636962

MIM	HGNC	e!Ensembl
614553	16021	ENSG00000156239

Q9Y5N5

Protein name

Methyltransferase HEMK2 (HemK methyltransferase family member 2) (M.HsaHemK2P) (Lysine N-methyltransferase 9) (EC 2.1.1.-) (Methylarsonite methyltransferase N6AMT1) (EC 2.1.1.-) (Methyltransferase N6AMT1) (Protein N(5)-glutamine methyltransferase) (EC 2.1

Protein function

Methyltransferase that can methylate proteins and, to a lower extent, arsenic (PubMed:18539146, PubMed:21193388, PubMed:30017583, PubMed:31061526, PubMed:31636962). Catalytic subunit of a heterodimer with TRMT112, which monomethylates 'Lys-12' o

PDB

6H1D , 6H1E , 6K0X , 6KHS , 6KMR , 6KMS , 6PED , 8CNC , 8QDG , 8QDI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05175	MTS	16 → 140	Methyltransferase small domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in parathyroid and pituitary glands, followed by adrenal gland and kidney, and lowest expression in leukocytes and mammary gland. {ECO:0000269|PubMed:21193388}.

Sequence

MAGENFATPFHGHVGRGAFSDVYEPAEDTFLLLDALEAAAAELAGVEICLEVGSGSGVVS
AFLASMIGPQALYMCTDINPEAAACTLETARCNKVHIQPVITDLVKGLLPRLTEKVDLLV
FNPPYVVTPPQEVGSHGIEAAWAGGRNGREVMDRFFPLVPDLLSPRGLFYLVTIKENNPE
EILKIMKTKGLQGTTALSRQAGQETLSVLKFTKS

Sequence length

214

Interactions

View interactions

	Reactome
			Methylation Eukaryotic Translation Termination

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 (1)

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.
HYPERPITUITARISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HEMK2 (HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine)