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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55717
Gene name	WD repeat domain 11
Gene symbol	WDR11
Synonyms (NCBI Gene)	BRWD2DR11HH14SRI1WDR15
Chromosome	10
Chromosome location	10q26.12
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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SNP ID	Visualize variation	Clinical significance	Consequence
rs318240760	G>A,C	Not-provided, pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005277	hsa-miR-1-3p	pSILAC	18668040
MIRT020745	hsa-miR-155-5p	Proteomics	18668040
MIRT005277	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT050257	hsa-miR-25-3p	CLASH	23622248
MIRT045904	hsa-miR-125b-5p	CLASH	23622248
MIRT044907	hsa-miR-186-5p	CLASH	23622248
MIRT1489710	hsa-miR-1179	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT1489714	hsa-miR-4251	CLIP-seq
MIRT1489715	hsa-miR-4303	CLIP-seq
MIRT1489716	hsa-miR-4329	CLIP-seq
MIRT1489717	hsa-miR-4503	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT1489719	hsa-miR-4762-3p	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2367990	hsa-miR-1323	CLIP-seq
MIRT2367991	hsa-miR-3171	CLIP-seq
MIRT2367992	hsa-miR-3613-3p	CLIP-seq
MIRT2367993	hsa-miR-3662	CLIP-seq
MIRT2367994	hsa-miR-410	CLIP-seq
MIRT2367995	hsa-miR-4269	CLIP-seq
MIRT2367996	hsa-miR-4318	CLIP-seq
MIRT2367997	hsa-miR-4438	CLIP-seq
MIRT2367998	hsa-miR-4679	CLIP-seq
MIRT2367999	hsa-miR-4693-5p	CLIP-seq
MIRT2368000	hsa-miR-4720-3p	CLIP-seq
MIRT2368001	hsa-miR-4766-3p	CLIP-seq
MIRT2368002	hsa-miR-4804-3p	CLIP-seq
MIRT2368003	hsa-miR-5095	CLIP-seq
MIRT2368004	hsa-miR-520d-5p	CLIP-seq
MIRT2368005	hsa-miR-524-5p	CLIP-seq
MIRT2368006	hsa-miR-548a-5p	CLIP-seq
MIRT2368007	hsa-miR-548ab	CLIP-seq
MIRT2368008	hsa-miR-548ak	CLIP-seq
MIRT2368009	hsa-miR-548b-5p	CLIP-seq
MIRT2368010	hsa-miR-548c-5p	CLIP-seq
MIRT2368011	hsa-miR-548d-5p	CLIP-seq
MIRT2368012	hsa-miR-548h	CLIP-seq
MIRT2368013	hsa-miR-548i	CLIP-seq
MIRT2368014	hsa-miR-548j	CLIP-seq
MIRT2368015	hsa-miR-548k	CLIP-seq
MIRT2368016	hsa-miR-548l	CLIP-seq
MIRT2368017	hsa-miR-548o	CLIP-seq
MIRT2368018	hsa-miR-548u	CLIP-seq
MIRT2368019	hsa-miR-548w	CLIP-seq
MIRT2368020	hsa-miR-548y	CLIP-seq
MIRT2368021	hsa-miR-559	CLIP-seq
MIRT2368022	hsa-miR-892a	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661502	hsa-miR-10a	CLIP-seq
MIRT2661503	hsa-miR-10b	CLIP-seq
MIRT2661504	hsa-miR-1256	CLIP-seq
MIRT2661505	hsa-miR-218	CLIP-seq
MIRT2661506	hsa-miR-3140-3p	CLIP-seq
MIRT2367991	hsa-miR-3171	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2661507	hsa-miR-3545-5p	CLIP-seq
MIRT2367992	hsa-miR-3613-3p	CLIP-seq
MIRT2367993	hsa-miR-3662	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT2661508	hsa-miR-376c	CLIP-seq
MIRT2661509	hsa-miR-3925-5p	CLIP-seq
MIRT2661510	hsa-miR-3938	CLIP-seq
MIRT2661511	hsa-miR-3943	CLIP-seq
MIRT2661512	hsa-miR-4291	CLIP-seq
MIRT2661513	hsa-miR-4292	CLIP-seq
MIRT2661514	hsa-miR-4297	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2661515	hsa-miR-4308	CLIP-seq
MIRT2661516	hsa-miR-4313	CLIP-seq
MIRT2367996	hsa-miR-4318	CLIP-seq
MIRT2661517	hsa-miR-4464	CLIP-seq
MIRT2661518	hsa-miR-4477a	CLIP-seq
MIRT2661519	hsa-miR-455-5p	CLIP-seq
MIRT2367998	hsa-miR-4679	CLIP-seq
MIRT2367999	hsa-miR-4693-5p	CLIP-seq
MIRT2661520	hsa-miR-4699-3p	CLIP-seq
MIRT2661521	hsa-miR-4700-3p	CLIP-seq
MIRT2661522	hsa-miR-4701-5p	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2661523	hsa-miR-4720-5p	CLIP-seq
MIRT2661524	hsa-miR-4725-5p	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2661525	hsa-miR-4748	CLIP-seq
MIRT2661526	hsa-miR-4773	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT2661527	hsa-miR-4789-3p	CLIP-seq
MIRT2661528	hsa-miR-4799-3p	CLIP-seq
MIRT2661529	hsa-miR-486-5p	CLIP-seq
MIRT2661530	hsa-miR-504	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2661531	hsa-miR-513a-5p	CLIP-seq
MIRT2661532	hsa-miR-513c	CLIP-seq
MIRT2661533	hsa-miR-514b-5p	CLIP-seq
MIRT2368004	hsa-miR-520d-5p	CLIP-seq
MIRT2368005	hsa-miR-524-5p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT2368006	hsa-miR-548a-5p	CLIP-seq
MIRT2368007	hsa-miR-548ab	CLIP-seq
MIRT2368008	hsa-miR-548ak	CLIP-seq
MIRT2368009	hsa-miR-548b-5p	CLIP-seq
MIRT2368010	hsa-miR-548c-5p	CLIP-seq
MIRT2368011	hsa-miR-548d-5p	CLIP-seq
MIRT2368012	hsa-miR-548h	CLIP-seq
MIRT2368013	hsa-miR-548i	CLIP-seq
MIRT2368014	hsa-miR-548j	CLIP-seq
MIRT2368015	hsa-miR-548k	CLIP-seq
MIRT2368016	hsa-miR-548l	CLIP-seq
MIRT2368018	hsa-miR-548u	CLIP-seq
MIRT2368019	hsa-miR-548w	CLIP-seq
MIRT2368020	hsa-miR-548y	CLIP-seq
MIRT2661534	hsa-miR-550b	CLIP-seq
MIRT2368021	hsa-miR-559	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661535	hsa-miR-588	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT2661536	hsa-miR-636	CLIP-seq
MIRT2661537	hsa-miR-670	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq
MIRT2368022	hsa-miR-892a	CLIP-seq
MIRT2661502	hsa-miR-10a	CLIP-seq
MIRT2661503	hsa-miR-10b	CLIP-seq
MIRT2661504	hsa-miR-1256	CLIP-seq
MIRT2661505	hsa-miR-218	CLIP-seq
MIRT2661506	hsa-miR-3140-3p	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2661507	hsa-miR-3545-5p	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT2661508	hsa-miR-376c	CLIP-seq
MIRT2661510	hsa-miR-3938	CLIP-seq
MIRT2661511	hsa-miR-3943	CLIP-seq
MIRT2661512	hsa-miR-4291	CLIP-seq
MIRT2661513	hsa-miR-4292	CLIP-seq
MIRT2661514	hsa-miR-4297	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2661515	hsa-miR-4308	CLIP-seq
MIRT2661516	hsa-miR-4313	CLIP-seq
MIRT2661517	hsa-miR-4464	CLIP-seq
MIRT2661518	hsa-miR-4477a	CLIP-seq
MIRT2661519	hsa-miR-455-5p	CLIP-seq
MIRT2661520	hsa-miR-4699-3p	CLIP-seq
MIRT2661521	hsa-miR-4700-3p	CLIP-seq
MIRT2661522	hsa-miR-4701-5p	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2661523	hsa-miR-4720-5p	CLIP-seq
MIRT2661524	hsa-miR-4725-5p	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2661525	hsa-miR-4748	CLIP-seq
MIRT2661526	hsa-miR-4773	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT2661527	hsa-miR-4789-3p	CLIP-seq
MIRT2695188	hsa-miR-4793-5p	CLIP-seq
MIRT2661528	hsa-miR-4799-3p	CLIP-seq
MIRT2661529	hsa-miR-486-5p	CLIP-seq
MIRT2661530	hsa-miR-504	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2661531	hsa-miR-513a-5p	CLIP-seq
MIRT2661532	hsa-miR-513c	CLIP-seq
MIRT2661533	hsa-miR-514b-5p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT2661534	hsa-miR-550b	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661535	hsa-miR-588	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT2661536	hsa-miR-636	CLIP-seq
MIRT2661537	hsa-miR-670	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20887964, 29084197, 29263200, 29426865
GO:0005634	Component	Nucleus	IDA	29263200
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20887964
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	29426865
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0005930	Component	Axoneme	ISS
GO:0006886	Process	Intracellular protein transport	IDA	29426865
GO:0007507	Process	Heart development	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031410	Component	Cytoplasmic vesicle	IDA	29426865
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035264	Process	Multicellular organism growth	ISS
GO:0036064	Component	Ciliary basal body	IDA	29263200
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060322	Process	Head development	ISS
GO:0099041	Process	Vesicle tethering to Golgi	IDA	29426865

MIM	HGNC	e!Ensembl
606417	13831	ENSG00000120008

Q9BZH6

Protein name

WD repeat-containing protein 11 (Bromodomain and WD repeat-containing protein 2) (WD repeat-containing protein 15)

Protein function

Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gen

PDB

8XFB , 8Z9M

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLPYTVNFKVSARTLTGALNAHNKAAVDWGWQGLIAYGCHSLVVVIDSITAQTLQVLEKH
KADVVKVKWARENYHHNIGSPYCLRLASADVNGKIIVWDVAAGVAQCEIQEHAKPIQDVQ
WLWNQDASRDLLLAIHPPNYIVLWNADTGTKLWKKSYADNILSFSFDPFDPSHLTLLTSE
GIVFISDFSPSKPPSGPGKKVYISSPHSSPAHNKLATATGAKKALNKVKILITQEKPSAE
FITLNDCLQLAYLPSKRNHMLLLYPREILILDLEVNQTVGVIAIERTGVPFLQVIPCFQR
DGLFCLHENGCITLRVRRSYNNIFTTSNEEPDPDPVQELTYDLRSQCDAIRVTKTVRPFS
MVCCPVNENAAALVVSDGRVMIWELKSAVCNRNSRNSSSGVSPLYSPVSFCGIPVGVLQN
KLPDLSLDNMIGQSAIAGEEHPRGSILREVHLKFLLTGLLSGLPAPQFAIRMCPPLTTKN
IKMYQPLLAVGTSNGSVLVYHLTSGLLHKELSIHSCEVKGIEWTSLTSFLSFATSTPNNM
GLVRNELQLVDLPTGRSIAFRGERGNDESAIEMIKVSHLKQYLAVVFRDKPLELWDVRTC
TLLREMSKNFPTITALEWSPSHNLKSLRKKQLATREAMARQTVVSDTELSIVESSVISLL
QEAESKSELSQNISAREHFVFTDIDGQVYHLTVEGNSVKDSARIPPDGSMGSITCIAWKG
DTLVLGDMDGNLNFWDLKGRVSRGIPTHRSWVRKIRFAPGKGNQKLIAMYNDGAEVWDTK
EVQMVSSLRSGRNVTFRILDVDWCTSDKVILASDDGCIRVLEMSMKSACFRMDEQELTEP
VWCPYLLVPRASLALKAFLLHQPWNGQYSLDISHVDYPENEEIKNLLQEQLNSLSNDIKK
LLLDPEFTLLQRCLLVSRLYGDESELHFWTVAAHYLHSLSQEKSASTTAPKEAAPRDKLS
NPLDICYDVLCENAYFQKFQLERVNLQEVKRSTYDHTRKCTDQLLLLGQTDRAVQLLLET
SADNQHYYCDSLKACLVTTVTSSGPSQSTIKLVATNMIANGKLAEGVQLLCLIDKAADAC
RYLQTYGEWNRAAWLAKVRLNPEECADVLRRWVDHLCSPQVNQKSKALLVLLSLGCFFSV
AETLHSMRYFDRAALFVEACLKYGAFEVTEDTEKLITAIYADYARSLKNLGFKQGAVLFA
SKAGAAGKDLLNELESPKEEPIEE

Sequence length

1224

Interactions

View interactions

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypogonadotropic hypogonadism 14 with anosmia	Pathogenic	rs318240761	RCV000030850
Hypogonadotropic hypogonadism 14 with or without anosmia	Likely pathogenic	rs2133718612, rs1847196520	RCV002251049 RCV001192675
Intellectual developmental disorder, autosomal recessive 78	Pathogenic; Likely pathogenic	rs2133748193, rs1252726486, rs747938475, rs760973100	RCV003152627 RCV003152628 RCV003152629 RCV003152630
Microcephaly	Pathogenic; Likely pathogenic	rs2133748193, rs1252726486, rs747938475, rs760973100	RCV001647286 RCV001647287 RCV001647288 RCV001647289
WDR11-related disorder	Pathogenic; Likely pathogenic	rs747938475, rs775474626	RCV004753315 RCV003404608

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amenorrhea	Uncertain significance	rs780739420	RCV001849756
CHARGE syndrome	Uncertain significance	rs753696030	RCV000757994
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2493314706	RCV004558046
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs774442833	RCV001374573
Hypogonadotropic hypogonadism	Uncertain significance	rs778731385	RCV006276389
Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance; Benign; Likely benign	rs374474111, rs1421777263, rs200398973, rs114808011, rs1846091309	RCV005396991 RCV005398975 RCV005399214 RCV002501185 RCV001197338
See cases	Conflicting classifications of pathogenicity	rs139007744	RCV004584344

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia Areata	Stimulate	10674370
Anodontia	Associate	26199944
Arthritis Juvenile	Associate	11037894
Celiac Disease	Inhibit	33686834
Cleft Lip	Associate	26199944
Combined Pituitary Hormone Deficiency	Associate	25064402
Coronary Artery Disease	Associate	32469254
Cryoglobulinemia Familial Mixed	Associate	11592376
Developmental Disabilities	Associate	34413497
Diabetes Mellitus Type 1	Inhibit	34023962
Growth Disorders	Associate	34413497
Heart Defects Congenital	Associate	34413497
Hemochromatosis	Associate	40508017
Hepatitis Autoimmune	Inhibit	15793882
Holoprosencephaly	Associate	34413497
Hypogonadism	Associate	26199944, 28209183, 32982993, 33270637, 34413497, 35432193, 40508017
Hypospadias	Associate	28209183
Idiopathic Hypogonadotropic Hypogonadism	Associate	22035731, 36130823
Infections	Associate	35490272
Inflammation	Inhibit	36614257
Intellectual Disability	Associate	34413497
Jaw Abnormalities	Associate	26199944
Kallmann Syndrome	Associate	21682876, 22035731, 26199944
Lichen Sclerosus et Atrophicus	Stimulate	16297186
Melanoma	Associate	10049951
Microcephaly	Associate	34413497
Myocardial Infarction	Associate	32469254
Osteoarthritis	Associate	36614257
Pemphigus	Associate	9540980
Reproductive Tract Infections	Associate	34413497
Sarcoidosis	Associate	36472318
Spinal Dysraphism	Stimulate	19407364

WDR11 (WD repeat domain 11)