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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
  • PPP1R166 3
  • CAMRQ2 3
  • SORF-2 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. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

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 Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups.

UniProtKB/Swiss-Prot for WDR81 Gene

  • Seems to have a role in maintenance of normal mitochondrial structure and organization. Promotes Purkinje and photoreceptor cell survival.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR81 Gene

Genomics for WDR81 Gene

Regulatory Elements for WDR81 Gene

Enhancers for WDR81 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F001754 0.5 Ensembl 16.7 +38.6 38578 2.2 PAF1 ZNF362 ZMYM3 MNT ZIC2 ZNF121 ZFHX2 GLIS2 HDAC2 IKZF1 WDR81 SERPINF2 MIR22HG MIR22 RPA1 SMYD4 SERPINF1
GH17F001648 0.7 ENCODE 11.9 -66.9 -66893 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF207 SMYD4 RPA1 METTL16 RILP TLCD2 WDR81 MIR22 MIR22HG PITPNA SMG6
GH17F001860 0.2 ENCODE 11.8 +144.9 144902 1.5 KLF1 BHLHE40 RAD21 YY1 NR2F2 ZNF121 POLR2A ZBTB33 FOXP2 SMYD4 RPA1 MIR22 MIR22HG WDR81 SERPINF2 DPH1 RTN4RL1 LOC642502 GC17P001886
GH17F001865 0.6 ENCODE 11.8 +149.1 149129 0.1 CTCF ZNF654 ZNF143 SMC3 TRIM22 RAD21 RPA1 SMYD4 MIR22 MIR22HG WDR81 DPH1 LOC642502 GC17P001886
GH17F001785 1.2 Ensembl ENCODE 11.7 +70.9 70861 3.4 GTF2F1 TBP JUN MAX SIN3A ZIC2 HIC1 ZNF121 ZNF366 SMARCC2 SMYD4 SMG6 SERPINF1 SERPINF2 RPA1 WDR81 MIR22 MIR22HG TLCD2 ENSG00000263345
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WDR81 on UCSC Golden Path with GeneCards custom track

Promoters for WDR81 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001533658 -423 3801 MLX CREB3L1 ZFP64 YBX1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC

Genomic Location for WDR81 Gene

Chromosome:
17
Start:
1,716,523 bp from pter
End:
1,738,599 bp from pter
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:
    No Data Available
    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 Lys 1235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR81 Gene

Domains & Families for WDR81 Gene

Suggested Antigen Peptide Sequences for WDR81 Gene

Graphical View of Domain Structure for InterPro Entry

Q562E7

UniProtKB/Swiss-Prot:

WDR81_HUMAN :
  • Contains 1 BEACH domain.
  • Contains 7 WD repeats.
Domain:
  • Contains 1 BEACH domain.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with WDR81: view

Function for WDR81 Gene

Molecular function for WDR81 Gene

UniProtKB/Swiss-Prot Function:
Seems to have a role in maintenance of normal mitochondrial structure and organization. Promotes Purkinje and photoreceptor cell survival.

Gene Ontology (GO) - Molecular Function for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IBA --
GO:0045502 dynein binding IBA --
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

Flow Cytometry 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR81 Gene COMPARTMENTS Subcellular localization image for WDR81 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 4
nucleus 3
cytosol 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IBA --
GO:0005739 mitochondrion IEA --
GO:0005813 centrosome IBA --
GO:0005874 microtubule IBA --
GO:0005875 microtubule associated complex IBA --
genes like me logo Genes that share ontologies with WDR81: view

Pathways & Interactions for WDR81 Gene

SuperPathways for WDR81 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IBA --
GO:0007097 nuclear migration IBA --
GO:0007281 germ cell development IBA --
GO:0008090 retrograde axonal transport IBA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
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

Transcripts for WDR81 Gene

Unigene Clusters for WDR81 Gene

WD repeat domain 81:
Representative Sequences:

Flow Cytometry 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 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, PaxDb, 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.
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 34 35
  • 99.06 (n)
dog
(Canis familiaris)
Mammalia WDR81 34 35
  • 87.7 (n)
cow
(Bos Taurus)
Mammalia WDR81 34 35
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Wdr81 34 16 35
  • 85.11 (n)
rat
(Rattus norvegicus)
Mammalia Wdr81 34
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR81 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR81 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR81 34 35
  • 68.62 (n)
lizard
(Anolis carolinensis)
Reptilia WDR81 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr81 34
  • 61.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333062 34
  • 59.3 (n)
wdr81 35
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6734 34 35
  • 48.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007731 34
  • 46.65 (n)
worm
(Caenorhabditis elegans)
Secernentea F52C9.1 35
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for WDR81 Gene

No data available for Paralogs for WDR81 Gene

Variants for WDR81 Gene

Sequence variations from dbSNP and Humsavar for WDR81 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs587776906 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185], Pathogenic 1,727,526(+) CCTGC(C/T)CCCAC intron-variant, nc-transcript-variant, reference, missense
rs138358708 Pathogenic 1,731,098(+) CCAGC(C/T)GACTG nc-transcript-variant, reference, stop-gained
rs730882206 Likely pathogenic 1,725,804(+) GTGTG(A/G)GGCCC intron-variant, nc-transcript-variant, reference, missense
rs770279237 Likely pathogenic 1,728,245(+) CTCCC(C/T)AGCCC intron-variant, nc-transcript-variant, reference, stop-gained
rs1045794 Likely benign 1,737,415(+) TTGAC(C/T)GTCTG nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime

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)

Relevant External Links for WDR81 Gene

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

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

Disorders for WDR81 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WDR81 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
  • cerebellar ataxia, mental retardation and dysequilibrium syndrome 2
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
  • vldlr-associated cerebellar hypoplasia
cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • camrq
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
autosomal recessive cerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search WDR81 in MalaCards View complete list of genes associated with diseases

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WDR81

Genetic Association Database (GAD)
WDR81
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 Res. 2011) 2 3 4 64
  2. Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion. (PMID: 26783301) Liu K. … Yang C. (J. Cell Biol. 2016) 2 3 64
  3. A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin. (PMID: 27126989) Rapiteanu R. … Lehner P.J. (Traffic 2016) 2 3 64
  4. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. (PMID: 20705733) O'Seaghdha C.M. … KAPttgen A. (Hum. Mol. Genet. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for WDR81 Gene

Sources for WDR81 Gene

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