Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124997
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 81
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR81
Synonyms (NCBI Gene) Gene synonyms aliases
CAMRQ2, CHMRQ, HYC3, PPP1R166, SORF-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CAMRQ2, HYC3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibitin
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137952560 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs138211651 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs138358708 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs143688446 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs151330612 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045880 hsa-miR-128-3p CLASH 23622248
MIRT546002 hsa-miR-363-3p PAR-CLIP 21572407
MIRT546001 hsa-miR-92b-3p PAR-CLIP 21572407
MIRT546000 hsa-miR-92a-3p PAR-CLIP 21572407
MIRT545999 hsa-miR-367-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IDA 28404643
GO:0005515 Function Protein binding IPI 26783301, 27126989, 28404643
GO:0005739 Component Mitochondrion IDA 28404643
GO:0005765 Component Lysosomal membrane IDA 27126989
GO:0005789 Component Endoplasmic reticulum membrane IDA 28404643
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614218 26600 ENSG00000167716
Protein
UniProt ID Q562E7
Protein name WD repeat-containing protein 81
Protein function Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02138 Beach 350 591 Beige/BEACH domain Family
PF00400 WD40 1639 1675 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum. {ECO:0000269|PubMed:21885617}.
Sequence
MAQGSGGREGALRTPAGGWHSPPSPDMQELLRSVERDLSIDPRQLAPAPGGTHVVALVPA
RWLASLRDRRLPLGPCPRAEGLGEAEVRTLLQRSVQRLPAGWTRVEVHGLRKRRLSYPLG
GGLPFEDGSCGPETLTRFMQEVAAQNYRNLWRHAYHTYGQPYSHSPAPSAVPALDSVRQA
LQRVYGCSFLPVGETTQCPSYAREGPCPPRGSPACPSLLRAEALLESPEMLYVVHPYVQF
SLHDVVTFSPAKLTNSQAKVLFILFRVLRAMDACHRQGLACGALSLYHIAVDEKLCSELR
LDLSAYERPEEDENEEAPVARDEAGIVSQEEQGGQPGQPTGQEELRSLVLDWVHGRISNF
HYLMQLNRLAGRRQGDPNYHPVLPWVVDFTTPHGRFRDLRKSKFRLNKGDKQLDFTYEMT
RQAFVAGGAGGGEPPHVPHHISDVLSDITYYVYKARRTPRSVLCGHVRAQWEPHEYPASM
ERMQNWTPDECIPEFYTDPSIFRSIHPDMPDLDVPAWCSSSQEFVAAHRALLESREVSRD
LHHWIDLTFGYKLQGKEAVKEKNVCLHLVDAHTHLASYGVVQLFDQPHPQR
LAGAPALAP
EPPLIPKLLVQTIQETTGREDFTENPGQLPNGVGRPVLEATPCEASWTRDRPVAGEDDLE
QATEALDSISLAGKAGDQLGSSSQASPGLLSFSVASASRPGRRNKAAGADPGEGEEGRIL
LPEGFNPMQALEELEKTGNFLAKGLGGLLEVPEQPRVQPAVPLQCLLHRDMQALGVLLAE
MVFATRVRTLQPDAPLWVRFQAVRGLCTRHPKEVPVSLQPVLDTLLQMSGPEVPMGAERG
KLDQLFEYRPVSQGLPPPCPSQLLSPFSSVVPFPPYFPALHRFILLYQARRVEDEAQGRE
LVFALWQQLGAVLKDITPEGLEILLPFVLSLMSEEHTAVYTAWYLFEPVAKALGPKNANK
YLLKPLIGAYESPCQLHGRFYLYTDCFVAQLMVRLGLQAFLTHLLPHVLQVLAGAEASQE
ESKDLAGAAEEEESGLPGAGPGSCAFGEEIPMDGEPPASSGLGLPDYTSGVSFHDQADLP
ETEDFQAGLYVTESPQPQEAEAVSLGRLSDKSSTSETSLGEERAPDEGGAPVDKSSLRSG
DSSQDLKQSEGSEEEEEEEDSCVVLEEEEGEQEEVTGASELTLSDTVLSMETVVAGGSGG
DGEEEEEALPEQSEGKEQKILLDTACKMVRWLSAKLGPTVASRHVARNLLRLLTSCYVGP
TRQQFTVSSGESPPLSAGNIYQKRPVLGDIVSGPVLSCLLHIARLYGEPVLTYQYLPYIS
YLVAPGSASGPSRLNSRKEAGLLAAVTLTQKIIVYLSDTTLMDILPRISHEVLLPVLSFL
TSLVTGFPSGAQARTILCVKTISLIALICLRIGQEMVQQHLSEPVATFFQVFSQLHELRQ
QDLKLDPAGRGEGQLPQVVFSDGQQRPVDPALLDELQKVFTLEMAYTIYVPFSCLLGDII
RKIIPNHELVGELAALYLESISPSSRNPASVEPTMPGTGPEWDPHGGGCPQDDGHSGTFG
SVLVGNRIQIPNDSRPENPGPLGPISGVGGGGLGSGSDDNALKQELPRSVHGLSGNWLAY
WQYEIGVSQQDAHFHFHQIRLQSFPGHSGAVKCVAPLSSEDFFLSGSKDRTVRLWPLYNY
GDGTSETAPRLVYTQHRKSVFFVGQLEAPQHVVSCDGAVHVWDPFTGKTLRTVEPLDSRV
PLTAVAVMPAPHTSITMASSDSTLRFVDCRKPGLQHEFRLGGGLNPGLVRALAISPSGRS
VVAGFSSGFMVLLDTRTGLVLRGWPAHEGDILQIKAVEGSVLVSSSSDHSLTVWKELEQK
PTHHYKSASDPIHTFDLYGSEVVTGTVSNKIGVCSLLEPPSQATTKLSSENFRGTLTSLA
LLPTKRHLLLGSDNGVIRLLA
Sequence length 1941
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 rs80338907, rs80338906, rs267606695, rs80338905, rs387906598, rs587776906, rs546968533, rs398122380, rs397514750, rs267603791, rs730882206, rs770279237, rs797046092, rs770269674, rs138358708
View all (11 more)
28961333, 21885617, 26437881
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Congenital hydrocephalus Congenital Hydrocephalus rs387907321, rs1575362239, rs1576408050, rs1576412227, rs1576426439, rs1588574984, rs1588622713 28556411
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 21885617
Alzheimer Disease Inhibit 33730050
Brain Diseases Associate 33724704, 33730050
Cerebellar Diseases Associate 21885617
Cerebellar Hypoplasia Associate 21885617
Colorectal Neoplasms Associate 25193853
Dysequilibrium syndrome Associate 21885617
Fetal Diseases Associate 33724704
Huntington Disease Inhibit 33730050
Hydrocephalus Associate 33724704