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 exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding di... See more...

Aliases for WDR81 Gene

Aliases for WDR81 Gene

  • WD Repeat Domain 81 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 166 2 3
  • WD Repeat-Containing Protein 81 3 4
  • PPP1R166 3
  • CAMRQ2 3
  • SORF-2 3
  • HYC3 3

External Ids for WDR81 Gene

Previous GeneCards Identifiers for WDR81 Gene

  • GC17P001567
  • GC17P001619

Summaries for WDR81 Gene

Entrez Gene Summary for WDR81 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 exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

GeneCards Summary for WDR81 Gene

WDR81 (WD Repeat Domain 81) is a Protein Coding gene. Diseases associated with WDR81 include Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 and Hydrocephalus, Congenital, 3, With Brain Anomalies. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is TEP1.

UniProtKB/Swiss-Prot Summary for WDR81 Gene

  • 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 regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).

Additional gene information for WDR81 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR81 Gene

Genomics for WDR81 Gene

GeneHancer (GH) Regulatory Elements for WDR81 Gene

Promoters and enhancers for WDR81 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR81 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WDR81 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HEN1
  • Hlf
  • Olf-1

Genomic Locations for WDR81 Gene

Genomic Locations for WDR81 Gene
chr17:1,716,523-1,738,599
(GRCh38/hg38)
Size:
22,077 bases
Orientation:
Plus strand
chr17:1,619,817-1,641,893
(GRCh37/hg19)
Size:
22,077 bases
Orientation:
Plus strand

Genomic View for WDR81 Gene

Genes around WDR81 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR81 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR81 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR81 Gene

Proteins for WDR81 Gene

  • Protein details for WDR81 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q562E7-WDR81_HUMAN
    Recommended name:
    WD repeat-containing protein 81
    Protein Accession:
    Q562E7
    Secondary Accessions:
    • B3KW16
    • B3KXU1
    • B7Z579
    • E9PHG7
    • Q24JP6
    • Q8N277
    • Q8N3F3
    • Q8TEL1

    Protein attributes for WDR81 Gene

    Size:
    1941 amino acids
    Molecular mass:
    211697 Da
    Quaternary structure:
    • Interacts with WDR91; involved in early to late endosome cargo transport (PubMed:26783301, PubMed:27126989). Interacts with BECN1; negatively regulates the PI3 kinase/PI3K activity associated with endosomal membranes (PubMed:26783301). Interacts with SQSTM1; the interaction is direct and regulates the interaction of SQSTM1 with ubiquitinated proteins (PubMed:28404643). Interacts with MAP1LC3C; recruits MAP1LC3C to ubiquitinated protein aggregates in the aggrephagy process (PubMed:28404643).
    SequenceCaution:
    • Sequence=BAG53978.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR81 Gene

neXtProt entry for WDR81 Gene

Post-translational modifications for WDR81 Gene

  • Ubiquitination at Lys1235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR81 Gene

Domains & Families for WDR81 Gene

Gene Families for WDR81 Gene

Suggested Antigen Peptide Sequences for WDR81 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51331, highly similar to WD repeat protein 81 (B7Z6V3_HUMAN)
  • WDR81 protein (Q24JR4_HUMAN)
  • WD repeat-containing protein 81 (WDR81_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q562E7

UniProtKB/Swiss-Prot:

WDR81_HUMAN :
  • Belongs to the WD repeat WDR81 family.
Family:
  • Belongs to the WD repeat WDR81 family.
genes like me logo Genes that share domains with WDR81: view

Function for WDR81 Gene

Molecular function for WDR81 Gene

UniProtKB/Swiss-Prot 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 regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).

Phenotypes From GWAS Catalog for WDR81 Gene

Gene Ontology (GO) - Molecular Function for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26783301
GO:0035014 phosphatidylinositol 3-kinase regulator activity IMP 26783301
GO:0070530 K63-linked polyubiquitin modification-dependent protein binding IDA 28404643
genes like me logo Genes that share ontologies with WDR81: view
genes like me logo Genes that share phenotypes with WDR81: view

Human Phenotype Ontology for WDR81 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR81

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR81 Gene

Localization for WDR81 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR81 Gene

Early endosome membrane; Peripheral membrane protein. Late endosome membrane. Lysosome membrane. Cytoplasmic vesicle, autophagosome membrane. Mitochondrion. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR81 gene
Compartment Confidence
mitochondrion 5
endosome 5
cytosol 5
lysosome 5
nucleus 3
plasma membrane 1
extracellular 0
cytoskeleton 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IDA 28404643
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 28404643
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 27126989
genes like me logo Genes that share ontologies with WDR81: view

Pathways & Interactions for WDR81 Gene

PathCards logo

SuperPathways for WDR81 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 28404643
GO:0007005 mitochondrion organization ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0035973 aggrephagy IMP 28404643
GO:0043551 regulation of phosphatidylinositol 3-kinase activity IMP 26783301
genes like me logo Genes that share ontologies with WDR81: view

No data available for Pathways by source and SIGNOR curated interactions for WDR81 Gene

Drugs & Compounds for WDR81 Gene

No Compound Related Data Available

Transcripts for WDR81 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR81

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR81 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - - - - - - - -
SP7: -
SP8: - - -
SP9: - -

Relevant External Links for WDR81 Gene

GeneLoc Exon Structure for
WDR81
ECgene alternative splicing isoforms for
WDR81

Expression for WDR81 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR81 Gene

Protein differential expression in normal tissues from HIPED for WDR81 Gene

This gene is overexpressed in Urine (17.7), Placenta (9.5), and Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR81 Gene



Protein tissue co-expression partners for WDR81 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR81 Gene:

WDR81

SOURCE GeneReport for Unigene cluster for WDR81 Gene:

Hs.234572

mRNA Expression by UniProt/SwissProt for WDR81 Gene:

Q562E7-WDR81_HUMAN
Tissue specificity: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum.

Evidence on tissue expression from TISSUES for WDR81 Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Spleen(4.2)
  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR81 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with WDR81: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WDR81 Gene

Orthologs for WDR81 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR81 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR81 33 32
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR81 33 32
  • 87.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR81 33 32
  • 87.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr81 17 33 32
  • 85.11 (n)
rat
(Rattus norvegicus)
Mammalia Wdr81 32
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR81 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR81 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR81 33 32
  • 68.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR81 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr81 32
  • 61.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333062 32
  • 59.3 (n)
wdr81 33
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6734 33 32
  • 48.05 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007731 32
  • 46.65 (n)
worm
(Caenorhabditis elegans)
Secernentea F52C9.1 33
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 26 (a)
OneToOne
Species where no ortholog for WDR81 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WDR81 Gene

ENSEMBL:
Gene Tree for WDR81 (if available)
TreeFam:
Gene Tree for WDR81 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR81: view image

Paralogs for WDR81 Gene

Variants for WDR81 Gene

Sequence variations from dbSNP and Humsavar for WDR81 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs138358708 pathogenic, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Inborn genetic diseases 1,731,098(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs151330612 uncertain-significance, not provided, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES 1,728,491(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs3809870 likely-benign, not specified, - 1,733,640(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs3809872 likely-benign, benign, not specified, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 1,734,008(+) A/C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs587776906 pathogenic, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185] 1,727,526(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for WDR81 Gene

Variant ID Type Subtype PubMed ID
nsv1065585 CNV gain 25217958
nsv1946 CNV insertion 18451855
nsv470568 CNV loss 18288195
nsv512467 CNV loss 21212237
nsv516886 CNV loss 19592680
nsv833335 CNV gain+loss 17160897
nsv9490 CNV loss 18304495

Variation tolerance for WDR81 Gene

Gene Damage Index Score: 12.34; 94.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR81 Gene

Human Gene Mutation Database (HGMD)
WDR81
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR81

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR81 Gene

Disorders for WDR81 Gene

MalaCards: The human disease database

(11) MalaCards diseases for WDR81 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

WDR81_HUMAN
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185]: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. {ECO:0000269 PubMed:21885617, ECO:0000269 PubMed:26437881}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hydrocephalus, congenital, 3, with brain anomalies (HYC3) [MIM:617967]: A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive. {ECO:0000269 PubMed:28556411}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for WDR81

genes like me logo Genes that share disorders with WDR81: view

No data available for Genatlas for WDR81 Gene

Publications for WDR81 Gene

  1. Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion. (PMID: 26783301) Liu K … Yang C (The Journal of cell biology 2016) 2 3 4 56
  2. A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin. (PMID: 27126989) Rapiteanu R … Lehner PJ (Traffic (Copenhagen, Denmark) 2016) 2 3 4 56
  3. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. (PMID: 21885617) Gulsuner S … Ozcelik T (Genome research 2011) 2 3 4 56
  4. The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy. (PMID: 28404643) Liu X … Yang C (The Journal of cell biology 2017) 3 4 56
  5. The genetic landscape of familial congenital hydrocephalus. (PMID: 28556411) Shaheen R … Alkuraya FS (Annals of neurology 2017) 3 4 56

Products for WDR81 Gene

Sources for WDR81 Gene