Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55717
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR11
Synonyms (NCBI Gene) Gene synonyms aliases
BRWD2, DR11, HH14, SRI1, WDR15
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HH14
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.12
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20887964, 29084197, 29263200, 29426865
GO:0005634 Component Nucleus IDA 29263200
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 20887964
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606417 13831 ENSG00000120008
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
View all (33 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Pituitary stalk interruption syndrome Pituitary stalk interruption syndrome 28453850 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Kallmann Syndrome Kallmann syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
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