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Aliases for WDR81 Gene

Aliases for WDR81 Gene

  • WD Repeat Domain 81 2 3
  • CAMRQ2 3 6
  • Protein Phosphatase 1, Regulatory Subunit 166 3
  • WD Repeat-Containing Protein 81 3
  • Regulatory Subunit 166 2
  • Protein Phosphatase 1 2
  • PPP1R166 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.

No data available for UniProtKB/Swiss-Prot , 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

Genomic Location for WDR81 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for WDR81 Gene at MOPED

Post-translational modifications for WDR81 Gene

  • Ubiquitination at Lys1235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR81 Gene

Domains for WDR81 Gene

Gene Families for WDR81 Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for WDR81 Gene

Suggested Antigen Peptide Sequences for WDR81 Gene

Graphical View of Domain Structure for InterPro Entry

Q562E7

UniProtKB/Swiss-Prot:

WDR81_HUMAN :
  • Q562E7
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

Gene Ontology (GO) - Molecular Function for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0016772 transferase activity, transferring phosphorus-containing groups IEA --
genes like me logo Genes that share ontologies with WDR81: view

Phenotypes for WDR81 Gene

GenomeRNAi human phenotypes for WDR81:
genes like me logo Genes that share phenotypes with WDR81: view

miRNA for WDR81 Gene

miRTarBase miRNAs that target WDR81

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

Localization for WDR81 Gene

Subcellular locations from

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for WDR81 Gene

Pathways for WDR81 Gene

SuperPathways for WDR81 Gene

No Data Available

Interacting Proteins for WDR81 Gene

Gene Ontology (GO) - Biological Process for WDR81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
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 for WDR81 Gene

Transcripts for WDR81 Gene

Unigene Clusters for WDR81 Gene

WD repeat domain 81:
Representative Sequences:

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 for WDR81 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR81 Gene

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 expressions with WDR81: view

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 35
  • 99.06 (n)
  • 99.18 (a)
WDR81 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDR81 35
  • 87.61 (n)
  • 89.57 (a)
WDR81 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR81 35
  • 87.7 (n)
  • 90.25 (a)
WDR81 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr81 35
  • 85.11 (n)
  • 87.78 (a)
Wdr81 16
Wdr81 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR81 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR81 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr81 35
  • 84.65 (n)
  • 87.31 (a)
chicken
(Gallus gallus)
Aves WDR81 35
  • 68.62 (n)
  • 67.63 (a)
WDR81 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR81 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr81 35
  • 61.12 (n)
  • 62.09 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100333062 35
  • 59.3 (n)
  • 59.34 (a)
wdr81 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007731 35
  • 46.65 (n)
  • 37.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6734 35
  • 48.05 (n)
  • 38.54 (a)
CG6734 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F52C9.1 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToOne
Species with no ortholog for WDR81:
  • 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 MAF
rs754492 -- 1,736,691(-) CGGGG(A/G)CAGGA intron-variant
rs874424 -- 1,736,740(-) CTCCC(C/T)GAGGC intron-variant
rs1317708 -- 1,736,671(-) CCAGG(C/T)GTGCT intron-variant
rs1574525 -- 1,720,381(+) ACGTT(A/G)CTTCT intron-variant
rs3809870 - 1,733,640(+) CCACC(A/G)TGCCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv907502 CNV Loss 21882294
nsv907511 CNV Loss 21882294
nsv907515 CNV Loss 21882294
nsv9490 CNV Loss 18304495
nsv470568 CNV Loss 18288195
nsv516886 CNV Loss 19592680
dgv3033n71 CNV Loss 21882294
nsv833335 CNV Gain+Loss 17160897
nsv1946 CNV Insertion 18451855
nsv512467 CNV Loss 21212237

Relevant External Links for WDR81 Gene

HapMap Linkage Disequilibrium report
WDR81
Human Gene Mutation Database (HGMD)
WDR81

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

Disorders for WDR81 Gene

(1) OMIM Diseases for WDR81 Gene (614218)

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.

(1) University of Copenhagen DISEASES for WDR81 Gene

Relevant External Links for WDR81

Genetic Association Database (GAD)
WDR81
genes like me logo Genes that share disorders with WDR81: view

Publications for WDR81 Gene

  1. 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 48
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. An integrated workflow for charting the human interaction proteome: insights into the PP2A system. (PMID: 19156129) Glatter T. … Gstaiger M. (Mol. Syst. Biol. 2009) 3
  5. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 3

Products for WDR81 Gene

Sources for WDR81 Gene

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