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	84661
Gene name	Dpy-30 histone methyltransferase complex regulatory subunit
Gene symbol	DPY30
Synonyms (NCBI Gene)	Cps25HDPY-30Saf19
Chromosome	2
Chromosome location	2p22.3
Summary	This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenito

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023776	hsa-miR-1-3p	Proteomics	18668040
MIRT944887	hsa-miR-101	CLIP-seq
MIRT944888	hsa-miR-1267	CLIP-seq
MIRT944889	hsa-miR-139-5p	CLIP-seq
MIRT944890	hsa-miR-144	CLIP-seq
MIRT944891	hsa-miR-2052	CLIP-seq
MIRT944892	hsa-miR-2116	CLIP-seq
MIRT944893	hsa-miR-2276	CLIP-seq
MIRT944894	hsa-miR-3180-5p	CLIP-seq
MIRT944895	hsa-miR-3182	CLIP-seq
MIRT944896	hsa-miR-3200-5p	CLIP-seq
MIRT944897	hsa-miR-3974	CLIP-seq
MIRT944898	hsa-miR-4251	CLIP-seq
MIRT944899	hsa-miR-4329	CLIP-seq
MIRT944900	hsa-miR-4475	CLIP-seq
MIRT944901	hsa-miR-4495	CLIP-seq
MIRT944902	hsa-miR-4645-3p	CLIP-seq
MIRT944903	hsa-miR-4652-3p	CLIP-seq
MIRT944904	hsa-miR-4677-5p	CLIP-seq
MIRT944905	hsa-miR-4694-5p	CLIP-seq
MIRT944906	hsa-miR-4698	CLIP-seq
MIRT944907	hsa-miR-4772-3p	CLIP-seq
MIRT944908	hsa-miR-4789-5p	CLIP-seq
MIRT944909	hsa-miR-493	CLIP-seq
MIRT944910	hsa-miR-513a-3p	CLIP-seq
MIRT944911	hsa-miR-514	CLIP-seq
MIRT944912	hsa-miR-514b-3p	CLIP-seq
MIRT944913	hsa-miR-520a-5p	CLIP-seq
MIRT944914	hsa-miR-525-5p	CLIP-seq
MIRT944915	hsa-miR-539	CLIP-seq
MIRT944916	hsa-miR-544	CLIP-seq
MIRT944917	hsa-miR-548ac	CLIP-seq
MIRT944918	hsa-miR-548ae	CLIP-seq
MIRT944919	hsa-miR-548aj	CLIP-seq
MIRT944920	hsa-miR-548am	CLIP-seq
MIRT944921	hsa-miR-548d-3p	CLIP-seq
MIRT944922	hsa-miR-548u	CLIP-seq
MIRT944923	hsa-miR-548x	CLIP-seq
MIRT944924	hsa-miR-548z	CLIP-seq
MIRT944887	hsa-miR-101	CLIP-seq
MIRT944889	hsa-miR-139-5p	CLIP-seq
MIRT944890	hsa-miR-144	CLIP-seq
MIRT1979712	hsa-miR-25	CLIP-seq
MIRT1979713	hsa-miR-299-5p	CLIP-seq
MIRT1979714	hsa-miR-3121-3p	CLIP-seq
MIRT1979715	hsa-miR-32	CLIP-seq
MIRT1979716	hsa-miR-331-5p	CLIP-seq
MIRT1979717	hsa-miR-363	CLIP-seq
MIRT1979718	hsa-miR-367	CLIP-seq
MIRT944903	hsa-miR-4652-3p	CLIP-seq
MIRT1979719	hsa-miR-4678	CLIP-seq
MIRT944910	hsa-miR-513a-3p	CLIP-seq
MIRT1979720	hsa-miR-584	CLIP-seq
MIRT1979721	hsa-miR-92a	CLIP-seq
MIRT1979722	hsa-miR-92b	CLIP-seq
MIRT944892	hsa-miR-2116	CLIP-seq
MIRT2214901	hsa-miR-2681	CLIP-seq
MIRT944908	hsa-miR-4789-5p	CLIP-seq
MIRT2214902	hsa-miR-583	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 17500065, 19556245, 21516116, 23414517, 23995757, 24722188, 24981860, 25416956, 25456412, 31485071, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	17500065, 19651892
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	19651892
GO:0006325	Process	Chromatin organization	IEA
GO:0016197	Process	Endosomal transport	IMP	19651892
GO:0035097	Component	Histone methyltransferase complex	IDA	17500065, 19556245
GO:0042802	Function	Identical protein binding	IPI	16189514, 19556245, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	19556245
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	19556245
GO:0048188	Component	Set1C/COMPASS complex	IDA	18838538
GO:0048188	Component	Set1C/COMPASS complex	IEA
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0071339	Component	MLL1 complex	IPI	23508102

MIM	HGNC	e!Ensembl
612032	24590	ENSG00000162961

Q9C005

Protein name

Protein dpy-30 homolog (Dpy-30-like protein) (Dpy-30L)

Protein function

As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone

PDB

3G36 , 4RIQ , 4RT4 , 4RTA , 6E2H , 6PWV , 7UD5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05186	Dpy-30	52 → 93	Dpy-30 motif	Motif

Sequence

MEPEQMLEGQTQVAENPHSEYGLTDNVERIVENEKINAEKSSKQKVDLQSLPTRAYLDQT
VVPILLQGLAVLAKERPPNPIEFLASYLLKNKAQFEDRN

Sequence length

Interactions

View interactions

	Reactome
			PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

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 (5)

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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	GWASCAT_DG	28196072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30221689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31846841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31846841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37324189	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31846841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30221689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31251903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	31251903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24690193		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25139354, 30488017, 31251903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31251903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30448059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30221689, 31251903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31846841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia	BEFREE	20857310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	29481671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	29481671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26147337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DPY30 (dpy-30 histone methyltransferase complex regulatory subunit)