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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11091
Gene name	WD repeat domain 5
Gene symbol	WDR5
Synonyms (NCBI Gene)	BIG-3BIG3CFAP89SWD3
Chromosome	9
Chromosome location	9q34.2
Summary	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047941	hsa-miR-30c-5p	CLASH	23622248
MIRT042008	hsa-miR-484	CLASH	23622248
MIRT039870	hsa-miR-615-3p	CLASH	23622248
MIRT643671	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643669	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT643670	hsa-miR-4758-3p	HITS-CLIP	23824327
MIRT643668	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT643671	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643669	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT643670	hsa-miR-4758-3p	HITS-CLIP	23824327
MIRT643668	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT1490901	hsa-miR-1184	CLIP-seq
MIRT1490902	hsa-miR-1205	CLIP-seq
MIRT1490903	hsa-miR-1286	CLIP-seq
MIRT1490904	hsa-miR-1289	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT1490909	hsa-miR-2467-5p	CLIP-seq
MIRT1490910	hsa-miR-299-3p	CLIP-seq
MIRT1490911	hsa-miR-3064-5p	CLIP-seq
MIRT1490912	hsa-miR-3141	CLIP-seq
MIRT1490913	hsa-miR-3156-3p	CLIP-seq
MIRT1490914	hsa-miR-3157-5p	CLIP-seq
MIRT1490915	hsa-miR-3173-5p	CLIP-seq
MIRT1490916	hsa-miR-3184	CLIP-seq
MIRT1490917	hsa-miR-328	CLIP-seq
MIRT1490918	hsa-miR-3607-5p	CLIP-seq
MIRT1490919	hsa-miR-3664-5p	CLIP-seq
MIRT1490920	hsa-miR-3670	CLIP-seq
MIRT1490921	hsa-miR-3714	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT1490923	hsa-miR-423-5p	CLIP-seq
MIRT1490924	hsa-miR-4301	CLIP-seq
MIRT1490925	hsa-miR-4304	CLIP-seq
MIRT1490926	hsa-miR-4487	CLIP-seq
MIRT1490927	hsa-miR-4522	CLIP-seq
MIRT1490928	hsa-miR-4640-3p	CLIP-seq
MIRT1490929	hsa-miR-4642	CLIP-seq
MIRT1490930	hsa-miR-4650-5p	CLIP-seq
MIRT1490931	hsa-miR-4663	CLIP-seq
MIRT1490932	hsa-miR-4687-5p	CLIP-seq
MIRT1490933	hsa-miR-4688	CLIP-seq
MIRT1490934	hsa-miR-4695-5p	CLIP-seq
MIRT1490935	hsa-miR-4707-5p	CLIP-seq
MIRT1490936	hsa-miR-4720-5p	CLIP-seq
MIRT1490937	hsa-miR-4722-5p	CLIP-seq
MIRT1490938	hsa-miR-4736	CLIP-seq
MIRT1490939	hsa-miR-4756-3p	CLIP-seq
MIRT1490940	hsa-miR-4762-5p	CLIP-seq
MIRT1490941	hsa-miR-4799-3p	CLIP-seq
MIRT1490942	hsa-miR-486-3p	CLIP-seq
MIRT1490943	hsa-miR-548ac	CLIP-seq
MIRT1490944	hsa-miR-548ae	CLIP-seq
MIRT1490945	hsa-miR-548aj	CLIP-seq
MIRT1490946	hsa-miR-548am	CLIP-seq
MIRT1490947	hsa-miR-548an	CLIP-seq
MIRT1490948	hsa-miR-548d-3p	CLIP-seq
MIRT1490949	hsa-miR-548x	CLIP-seq
MIRT1490950	hsa-miR-548z	CLIP-seq
MIRT1490951	hsa-miR-653	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT1490953	hsa-miR-1208	CLIP-seq
MIRT1490954	hsa-miR-1237	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT1490955	hsa-miR-146b-3p	CLIP-seq
MIRT1490956	hsa-miR-147	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT1490957	hsa-miR-2054	CLIP-seq
MIRT1490909	hsa-miR-2467-5p	CLIP-seq
MIRT1490958	hsa-miR-3064-3p	CLIP-seq
MIRT1490959	hsa-miR-3123	CLIP-seq
MIRT1490960	hsa-miR-3180	CLIP-seq
MIRT1490961	hsa-miR-3180-3p	CLIP-seq
MIRT1490962	hsa-miR-3182	CLIP-seq
MIRT1490963	hsa-miR-3196	CLIP-seq
MIRT1490964	hsa-miR-339-5p	CLIP-seq
MIRT1490965	hsa-miR-3607-3p	CLIP-seq
MIRT1490966	hsa-miR-3620	CLIP-seq
MIRT1490967	hsa-miR-3657	CLIP-seq
MIRT1490968	hsa-miR-3686	CLIP-seq
MIRT1490969	hsa-miR-3911	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT1490970	hsa-miR-3926	CLIP-seq
MIRT1490971	hsa-miR-3934	CLIP-seq
MIRT1490972	hsa-miR-4286	CLIP-seq
MIRT1490973	hsa-miR-4488	CLIP-seq
MIRT1490974	hsa-miR-4511	CLIP-seq
MIRT1490930	hsa-miR-4650-5p	CLIP-seq
MIRT1490934	hsa-miR-4695-5p	CLIP-seq
MIRT1490975	hsa-miR-4697-5p	CLIP-seq
MIRT1490939	hsa-miR-4756-3p	CLIP-seq
MIRT1490940	hsa-miR-4762-5p	CLIP-seq
MIRT1490976	hsa-miR-548b-3p	CLIP-seq
MIRT1490977	hsa-miR-552	CLIP-seq
MIRT1490978	hsa-miR-572	CLIP-seq
MIRT1490979	hsa-miR-644	CLIP-seq
MIRT1490980	hsa-miR-892a	CLIP-seq
MIRT1490981	hsa-miR-922	CLIP-seq
MIRT2147973	hsa-miR-1207-3p	CLIP-seq
MIRT2147974	hsa-miR-1224-3p	CLIP-seq
MIRT2147975	hsa-miR-1226	CLIP-seq
MIRT2147976	hsa-miR-130a	CLIP-seq
MIRT2147977	hsa-miR-130b	CLIP-seq
MIRT2147978	hsa-miR-182	CLIP-seq
MIRT2147979	hsa-miR-187	CLIP-seq
MIRT2147980	hsa-miR-1908	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT2147981	hsa-miR-301a	CLIP-seq
MIRT2147982	hsa-miR-301b	CLIP-seq
MIRT2147983	hsa-miR-31	CLIP-seq
MIRT2147984	hsa-miR-3152-3p	CLIP-seq
MIRT2147985	hsa-miR-3180-5p	CLIP-seq
MIRT2147986	hsa-miR-3186-3p	CLIP-seq
MIRT2147987	hsa-miR-3653	CLIP-seq
MIRT2147988	hsa-miR-3658	CLIP-seq
MIRT2147989	hsa-miR-3665	CLIP-seq
MIRT2147990	hsa-miR-3666	CLIP-seq
MIRT2147991	hsa-miR-3678-5p	CLIP-seq
MIRT2147992	hsa-miR-3688-5p	CLIP-seq
MIRT2147993	hsa-miR-3914	CLIP-seq
MIRT2147994	hsa-miR-3918	CLIP-seq
MIRT1490970	hsa-miR-3926	CLIP-seq
MIRT2147995	hsa-miR-3941	CLIP-seq
MIRT2147996	hsa-miR-4295	CLIP-seq
MIRT2147997	hsa-miR-4318	CLIP-seq
MIRT2147998	hsa-miR-4473	CLIP-seq
MIRT2147999	hsa-miR-454	CLIP-seq
MIRT2148000	hsa-miR-4640-5p	CLIP-seq
MIRT2148001	hsa-miR-466	CLIP-seq
MIRT2148002	hsa-miR-4671-3p	CLIP-seq
MIRT2148003	hsa-miR-4672	CLIP-seq
MIRT2148004	hsa-miR-4685-5p	CLIP-seq
MIRT2148005	hsa-miR-4704-5p	CLIP-seq
MIRT2148006	hsa-miR-4726-5p	CLIP-seq
MIRT2148007	hsa-miR-4733-3p	CLIP-seq
MIRT2148008	hsa-miR-520a-5p	CLIP-seq
MIRT2148009	hsa-miR-525-5p	CLIP-seq
MIRT2148010	hsa-miR-564	CLIP-seq
MIRT2148011	hsa-miR-570	CLIP-seq
MIRT2148012	hsa-miR-634	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT2148013	hsa-miR-663	CLIP-seq
MIRT2148014	hsa-miR-668	CLIP-seq
MIRT2148015	hsa-miR-744	CLIP-seq
MIRT2148016	hsa-miR-892b	CLIP-seq
MIRT2368410	hsa-miR-105	CLIP-seq
MIRT1490901	hsa-miR-1184	CLIP-seq
MIRT2368411	hsa-miR-1207-5p	CLIP-seq
MIRT2147975	hsa-miR-1226	CLIP-seq
MIRT2368412	hsa-miR-1250	CLIP-seq
MIRT2368413	hsa-miR-125a-3p	CLIP-seq
MIRT2368414	hsa-miR-125a-5p	CLIP-seq
MIRT2368415	hsa-miR-125b	CLIP-seq
MIRT2368416	hsa-miR-1273d	CLIP-seq
MIRT1490904	hsa-miR-1289	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT2147976	hsa-miR-130a	CLIP-seq
MIRT2147977	hsa-miR-130b	CLIP-seq
MIRT2368417	hsa-miR-140-3p	CLIP-seq
MIRT2368418	hsa-miR-151-5p	CLIP-seq
MIRT2368419	hsa-miR-151b	CLIP-seq
MIRT2147979	hsa-miR-187	CLIP-seq
MIRT2147980	hsa-miR-1908	CLIP-seq
MIRT2368420	hsa-miR-1909	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT2368421	hsa-miR-214	CLIP-seq
MIRT1490910	hsa-miR-299-3p	CLIP-seq
MIRT2147981	hsa-miR-301a	CLIP-seq
MIRT2147982	hsa-miR-301b	CLIP-seq
MIRT1490958	hsa-miR-3064-3p	CLIP-seq
MIRT2368422	hsa-miR-3065-3p	CLIP-seq
MIRT1490959	hsa-miR-3123	CLIP-seq
MIRT2368423	hsa-miR-3127-5p	CLIP-seq
MIRT2368424	hsa-miR-3131	CLIP-seq
MIRT1490912	hsa-miR-3141	CLIP-seq
MIRT1490913	hsa-miR-3156-3p	CLIP-seq
MIRT1490915	hsa-miR-3173-5p	CLIP-seq
MIRT1490916	hsa-miR-3184	CLIP-seq
MIRT2147986	hsa-miR-3186-3p	CLIP-seq
MIRT2368425	hsa-miR-3197	CLIP-seq
MIRT1490917	hsa-miR-328	CLIP-seq
MIRT2368426	hsa-miR-3545-3p	CLIP-seq
MIRT1490918	hsa-miR-3607-5p	CLIP-seq
MIRT2368427	hsa-miR-361-3p	CLIP-seq
MIRT2368428	hsa-miR-3615	CLIP-seq
MIRT2368429	hsa-miR-3619-5p	CLIP-seq
MIRT1490966	hsa-miR-3620	CLIP-seq
MIRT2368430	hsa-miR-3663-3p	CLIP-seq
MIRT2147989	hsa-miR-3665	CLIP-seq
MIRT2147990	hsa-miR-3666	CLIP-seq
MIRT2147991	hsa-miR-3678-5p	CLIP-seq
MIRT2368431	hsa-miR-3680	CLIP-seq
MIRT2147993	hsa-miR-3914	CLIP-seq
MIRT2147994	hsa-miR-3918	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT2368432	hsa-miR-3925-3p	CLIP-seq
MIRT2368433	hsa-miR-3944-5p	CLIP-seq
MIRT1490923	hsa-miR-423-5p	CLIP-seq
MIRT2368434	hsa-miR-4261	CLIP-seq
MIRT2368435	hsa-miR-4265	CLIP-seq
MIRT2368436	hsa-miR-4292	CLIP-seq
MIRT2147996	hsa-miR-4295	CLIP-seq
MIRT2368437	hsa-miR-4296	CLIP-seq
MIRT1490924	hsa-miR-4301	CLIP-seq
MIRT1490925	hsa-miR-4304	CLIP-seq
MIRT2368438	hsa-miR-4319	CLIP-seq
MIRT2368439	hsa-miR-4322	CLIP-seq
MIRT2368440	hsa-miR-4417	CLIP-seq
MIRT2368441	hsa-miR-4436b-3p	CLIP-seq
MIRT2368442	hsa-miR-4438	CLIP-seq
MIRT2368443	hsa-miR-4457	CLIP-seq
MIRT2147998	hsa-miR-4473	CLIP-seq
MIRT2368444	hsa-miR-4475	CLIP-seq
MIRT2368445	hsa-miR-4481	CLIP-seq
MIRT2368446	hsa-miR-4494	CLIP-seq
MIRT2147999	hsa-miR-454	CLIP-seq
MIRT1490928	hsa-miR-4640-3p	CLIP-seq
MIRT2148000	hsa-miR-4640-5p	CLIP-seq
MIRT1490929	hsa-miR-4642	CLIP-seq
MIRT2148002	hsa-miR-4671-3p	CLIP-seq
MIRT2368447	hsa-miR-4684-3p	CLIP-seq
MIRT2148004	hsa-miR-4685-5p	CLIP-seq
MIRT1490932	hsa-miR-4687-5p	CLIP-seq
MIRT1490933	hsa-miR-4688	CLIP-seq
MIRT2368448	hsa-miR-4691-3p	CLIP-seq
MIRT2148005	hsa-miR-4704-5p	CLIP-seq
MIRT1490935	hsa-miR-4707-5p	CLIP-seq
MIRT2368449	hsa-miR-4715-3p	CLIP-seq
MIRT2368450	hsa-miR-4717-3p	CLIP-seq
MIRT2368451	hsa-miR-4717-5p	CLIP-seq
MIRT1490936	hsa-miR-4720-5p	CLIP-seq
MIRT2368452	hsa-miR-4725-5p	CLIP-seq
MIRT2148006	hsa-miR-4726-5p	CLIP-seq
MIRT2148007	hsa-miR-4733-3p	CLIP-seq
MIRT2368453	hsa-miR-4734	CLIP-seq
MIRT2368454	hsa-miR-4737	CLIP-seq
MIRT2368455	hsa-miR-4745-5p	CLIP-seq
MIRT2368456	hsa-miR-4746-3p	CLIP-seq
MIRT2368457	hsa-miR-4761-3p	CLIP-seq
MIRT2368458	hsa-miR-4763-3p	CLIP-seq
MIRT1490941	hsa-miR-4799-3p	CLIP-seq
MIRT2368459	hsa-miR-4802-3p	CLIP-seq
MIRT2368460	hsa-miR-4802-5p	CLIP-seq
MIRT1490942	hsa-miR-486-3p	CLIP-seq
MIRT2368461	hsa-miR-504	CLIP-seq
MIRT2368462	hsa-miR-513b	CLIP-seq
MIRT2368463	hsa-miR-515-5p	CLIP-seq
MIRT2368464	hsa-miR-521	CLIP-seq
MIRT2368465	hsa-miR-542-3p	CLIP-seq
MIRT2368466	hsa-miR-548aa	CLIP-seq
MIRT1490943	hsa-miR-548ac	CLIP-seq
MIRT1490948	hsa-miR-548d-3p	CLIP-seq
MIRT1490950	hsa-miR-548z	CLIP-seq
MIRT2368467	hsa-miR-556-3p	CLIP-seq
MIRT2148010	hsa-miR-564	CLIP-seq
MIRT2368468	hsa-miR-578	CLIP-seq
MIRT2368469	hsa-miR-582-5p	CLIP-seq
MIRT2368470	hsa-miR-611	CLIP-seq
MIRT2368471	hsa-miR-622	CLIP-seq
MIRT2148012	hsa-miR-634	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT2368472	hsa-miR-660	CLIP-seq
MIRT2148013	hsa-miR-663	CLIP-seq
MIRT2148014	hsa-miR-668	CLIP-seq
MIRT2368473	hsa-miR-761	CLIP-seq
MIRT2368474	hsa-miR-765	CLIP-seq
MIRT2368475	hsa-miR-766	CLIP-seq
MIRT2148016	hsa-miR-892b	CLIP-seq
MIRT1490981	hsa-miR-922	CLIP-seq
MIRT2368427	hsa-miR-361-3p	CLIP-seq
MIRT2368436	hsa-miR-4292	CLIP-seq
MIRT2695216	hsa-miR-4308	CLIP-seq
MIRT2695217	hsa-miR-4691-5p	CLIP-seq
MIRT2695218	hsa-miR-516a-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SRY	Activation	22523547

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18838386
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0001501	Process	Skeletal system development	IEA
GO:0005515	Function	Protein binding	IPI	12670868, 15960975, 16189514, 16713569, 16946699, 17021013, 17041588, 17178841, 17500065, 17925232, 17998332, 18378692, 18840606, 19047629, 19433796, 19556245, 20080758, 20085832, 20581860, 20818375, 21044950, 21220120, 22266653, 22665483, 23555304, 23870121, 23995757, 24788516, 249
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	19936620
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	22055187
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0035097	Component	Histone methyltransferase complex	IDA	17355966, 17500065, 19556245
GO:0042393	Function	Histone binding	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0044545	Component	NSL complex	IDA	20018852
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:0045722	Process	Positive regulation of gluconeogenesis	IEA
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	19556245
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0048188	Component	Set1C/COMPASS complex	IBA
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0051302	Process	Regulation of cell division	IDA	20562830
GO:0051302	Process	Regulation of cell division	IEA
GO:0051302	Process	Regulation of cell division	ISS
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	19103755
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IPI	23508102
GO:0072686	Component	Mitotic spindle	NAS	20562830
GO:0140004	Function	Histone H3Q5ser reader activity	IDA	16600877
GO:0140109	Function	Histone H3K4me1 reader activity	IDA	18840606
GO:0140672	Component	ATAC complex	IDA	18838386, 19936620
GO:0140672	Component	ATAC complex	IEA
GO:0140672	Component	ATAC complex	ISO

MIM	HGNC	e!Ensembl
609012	12757	ENSG00000196363

P61964

Protein name

WD repeat-containing protein 5 (BMP2-induced 3-kb gene protein)

Protein function

Contributes to histone modification (PubMed:16600877, PubMed:16829960, PubMed:19103755, PubMed:19131338, PubMed:19556245, PubMed:20018852). May position the N-terminus of histone H3 for efficient trimethylation at 'Lys-4' (PubMed:16829960). As p

PDB

2CNX , 2CO0 , 2G99 , 2G9A , 2GNQ , 2H13 , 2H14 , 2H68 , 2H6K , 2H6N , 2H6Q , 2H9L , 2H9M , 2H9N , 2H9P , 2O9K , 3EG6 , 3EMH , 3MXX , 3N0D , 3N0E , 3P4F , 3PSL , 3SMR , 3UR4 , 3UVK , 3UVL , 3UVM , 3UVN , 3UVO , 4A7J , 4CY1 , 4CY2 , 4ERQ , 4ERY , 4ERZ , 4ES0 , 4ESG , 4EWR , 4GM3 , 4GM8 , 4GM9 , 4GMB , 4IA9 , 4O45 , 4QL1 , 4Y7R , 5EAL , 5EAM , 5EAP , 5EAR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	35 → 72	WD domain, G-beta repeat	Repeat
PF00400	WD40	77 → 115	WD domain, G-beta repeat	Repeat
PF00400	WD40	119 → 157	WD domain, G-beta repeat	Repeat
PF00400	WD40	161 → 199	WD domain, G-beta repeat	Repeat
PF00400	WD40	203 → 242	WD domain, G-beta repeat	Repeat
PF00400	WD40	246 → 287	WD domain, G-beta repeat	Repeat
PF00400	WD40	291 → 331	WD domain, G-beta repeat	Repeat

Sequence

MATEEKKPETEAARAQPTPSSSATQSKPTPVKPNYALKFTLAGHTKAVSSVKFSPNGEWL
ASSSADKLIKIWGAYDGKFEKTISGHKLGISDVAWSSDSNLLVSASDDKTLKIWDVSSGK
CLKTLKGHSNYVFCCNFNPQSNLIVSGSFDESVRIWDVKTGKCLKTLPAHSDPVSAVHFN
RDGSLIVSSSYDGLCRIWDTASGQCLKTLIDDDNPPVSFVKFSPNGKYILAATLDNTLKL
WDYSKGKCLKTYTGHKNEKYCIFANFSVTGGKWIVSGSEDNLVYIWNLQTKEIVQKLQGH
TDVVISTACHPTENIIASAALENDKTIKLWKSDC

Sequence length

334

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex Cushing syndrome		PKMTs methylate histone lysines HATs acetylate histones RMTs methylate histone arginines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Neddylation

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.
Congenital heart disease	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	28603984		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27320920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	29463886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36523143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25656485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19496786, 26355959, 28500289, 28929359, 30226578, 31421830, 31752957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24051437, 24120871, 26355959, 36043466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31767764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27192115, 35525905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25656485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28412363, 30550403, 30703266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30550403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30377171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29925347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29925347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29925347	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28300833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28300833	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29925347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30377171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36732025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36732025, 36961398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28476540		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26167872, 29731905, 30488017, 30626558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27192115	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35525905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23210835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26167872, 29857126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29731905, 31544250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31107859	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35434944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19496786, 26355959, 28500289, 30226578, 31421830, 31752957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28412363, 30550403, 30703266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27320920, 28741490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24793694, 28484075, 29731905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29125890, 29489064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25656485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26383167, 28600172, 29731905, 29889518, 29925347, 30488017, 30865883, 31107859, 31767764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29925347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24120871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	37021550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28042945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25656485, 25818646, 27320920, 29731905, 29925347, 31544250, 31767764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26471359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36207403, 37741985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27320920, 28741490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31107859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36813848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24793694, 28484075, 29731905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24793694, 26355959, 27268279, 28487115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	30377171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29569374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28534516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29125890, 29489064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29489064, 30274785, 35280682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31107859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35524313, 36043466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34154613	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35434944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR5 (WD repeat domain 5)