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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 3
  • Regulatory Subunit 166 2
  • Protein Phosphatase 1 2
  • 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

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

Proteomics data for WDR81 Gene at MOPED

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

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 :
  • 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.
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005875 microtubule associated complex IBA --
GO:0005938 cell cortex IBA --
genes like me logo Genes that share ontologies with WDR81: view

Pathways & Interactions 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:0000132 establishment of mitotic spindle orientation IBA --
GO:0007281 germ cell development IBA --
GO:0008090 retrograde axonal transport IBA --
GO:0022008 neurogenesis IBA --
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

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

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, 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 expression patterns with WDR81: view

Protein tissue co-expression partners for WDR81 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
WDR81 35
  • 99.06 (n)
  • 99.18 (a)
cow
(Bos Taurus)
Mammalia WDR81 35
  • 87.61 (n)
  • 89.57 (a)
WDR81 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR81 36
  • 90 (a)
OneToOne
WDR81 35
  • 87.7 (n)
  • 90.25 (a)
mouse
(Mus musculus)
Mammalia Wdr81 16
Wdr81 36
  • 88 (a)
OneToOne
Wdr81 35
  • 85.11 (n)
  • 87.78 (a)
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 wdr81 36
  • 51 (a)
OneToOne
LOC100333062 35
  • 59.3 (n)
  • 59.34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007731 35
  • 46.65 (n)
  • 37.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6734 36
  • 28 (a)
OneToOne
CG6734 35
  • 48.05 (n)
  • 38.54 (a)
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
rs3809870 - 1,733,640(+) CCACC(A/G)TGCCC nc-transcript-variant, downstream-variant-500B, reference, missense
VAR_068220 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2)
rs1310 -- 1,738,421(-) TCTCA(A/C)CCCTT utr-variant-3-prime
rs754492 -- 1,736,691(-) CGGGG(A/G)CAGGA intron-variant
rs1045794 -- 1,737,415(+) TTGAC(C/G/T)GTCTG reference, synonymous-codon

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

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

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

MalaCards: The human disease database

(8) 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
  • hemosiderosis, systemic, due to aceruloplasminemia
cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • camrq
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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3
  4. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. (PMID: 24068962) O'Seaghdha C.M. … Bochud M. (PLoS Genet. 2013) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for WDR81 Gene

Sources for WDR81 Gene

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