Gene Gene information from NCBI Gene database.
Entrez ID 124997
Gene name WD repeat domain 81
Gene symbol WDR81
Synonyms (NCBI Gene)
CAMRQ2CHMRQHYC3PPP1R166SORF-2
Chromosome 17
Chromosome location 17p13.3
Summary 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.
17
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.
161
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IDA 28404643
GO:0000421 Component Autophagosome membrane IEA
GO:0005515 Function Protein binding IPI 26783301, 27126989, 28404643
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614218 26600 ENSG00000167716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
152
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar ataxia Likely pathogenic; Pathogenic rs138358708 RCV004798813
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Likely pathogenic; Pathogenic rs1484029774, rs1194329020, rs2151169266, rs730882206, rs770279237, rs138358708, rs1353464242, rs762005729, rs1250268669, rs2543921856, rs587776906, rs762607878 RCV003989701
RCV002266320
RCV004594631
RCV003987381
RCV003987417
RCV000210424
RCV004594685
RCV003389378
RCV004526472
RCV004595299
RCV000024315
RCV001264824
Hydranencephaly Likely pathogenic rs730882206 RCV000162111
Hydrocephalus, congenital, 3, with brain anomalies Likely pathogenic; Pathogenic rs1484029774, rs2151169266, rs730882206, rs770279237, rs587776906 RCV001844321
RCV002272765
RCV000660890
RCV000660889
RCV002490408
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs532283233, rs143802836 RCV005929445
RCV005907530
Colorectal cancer Likely benign rs532283233 RCV005929446
Exstrophy-epispadias complex Uncertain significance rs1025369337 RCV003389434
Fraser syndrome 3 Uncertain significance rs560545893 RCV001251016
Associations from Text MiningDisease associations identified through Pubtator
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