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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 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 Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is NBEAL2.

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.

Additional gene information for WDR81 Gene

No data available for CIViC summary , 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
GH17H001294 1.5 FANTOM5 ENCODE dbSUPER 68.8 -422.2 -422175 1.2 PKNOX1 ATF1 ARNT ZNF493 ZNF133 YBX1 GLI4 BRCA1 ZNF2 ZNF416 PRPF8 SMYD4 RPA1 WDR81 GEMIN4 DPH1 ENSG00000263050 ENSG00000262228 CRK MYO1C
GH17H001293 1.3 ENCODE dbSUPER 68.8 -422.8 -422830 0.1 PKNOX1 ATF1 ARNT ZNF493 ZNF133 YBX1 GLI4 BRCA1 ZNF2 ZNF416 PRPF8 SMYD4 RPA1 WDR81 GEMIN4 DPH1 ENSG00000263050 ENSG00000262228 MYO1C HIC1
GH17H001258 1.3 Ensembl ENCODE 54.8 -457.0 -457020 1.8 SIN3A ZNF2 TCF12 ZNF121 GTF3C2 GLIS2 ZNF416 ZNF143 ZNF207 KLF7 PRPF8 SMYD4 WDR81 RPA1 GEMIN4 ENSG00000262228 MYO1C ENSG00000262920 HIC1 TUSC5
GH17H001939 0.9 ENCODE 45 +223.7 223668 1.6 ZNF493 ZFP64 ZNF354C ZNF202 ZNF680 ZC3H11A REST ZNF398 ZNF623 ZNF518A METTL16 SMYD4 PRPF8 RPA1 HNRNPA1P16 DPH1 WDR81 RN7SL608P ENSG00000263345 SMG6
GH17H001712 1.8 FANTOM5 ENCODE dbSUPER 18.1 -0.7 -749 7 MLX DMAP1 YBX1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 SMYD4 PRPF8 GEMIN4 RPA1 SERPINF2 METTL16 WDR81 TSR1 TLCD2 MNT
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000090127 -423 3401 MLX ZFP64 DMAP1 YBX1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1

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)

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 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for WDR81 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for WDR81 Gene

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.

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 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

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

Mitochondrion.

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 4
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1

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:0005739 mitochondrion IDA 28404643
GO:0005765 lysosomal membrane IDA 27126989
GO:0005789 NOT endoplasmic reticulum membrane IDA 28404643
GO:0005794 NOT Golgi apparatus IDA 28404643
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: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

Unigene Clusters for WDR81 Gene

WD repeat domain 81:
Representative Sequences:

CRISPR Products

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, 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.

Evidence on tissue expression from TISSUES for WDR81 Gene

  • Kidney(4.2)
  • Liver(4.2)
  • Spleen(4.2)
  • Nervous system(2.7)

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
Organs:
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 34
  • 99.06 (n)
dog
(Canis familiaris)
Mammalia WDR81 33 34
  • 87.7 (n)
cow
(Bos Taurus)
Mammalia WDR81 33 34
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Wdr81 33 16 34
  • 85.11 (n)
rat
(Rattus norvegicus)
Mammalia Wdr81 33
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR81 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR81 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR81 33 34
  • 68.62 (n)
lizard
(Anolis carolinensis)
Reptilia WDR81 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr81 33
  • 61.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333062 33
  • 59.3 (n)
wdr81 34
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6734 33 34
  • 48.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007731 33
  • 46.65 (n)
worm
(Caenorhabditis elegans)
Secernentea F52C9.1 34
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

Paralogs for WDR81 Gene

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

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 Pathogenic, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185] 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/G/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
nsv9490 CNV loss 18304495
nsv833335 CNV gain+loss 17160897
nsv516886 CNV loss 19592680
nsv512467 CNV loss 21212237
nsv470568 CNV loss 18288195
nsv1946 CNV insertion 18451855
nsv1065585 CNV gain 25217958

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

(6) MalaCards diseases for WDR81 Gene - From: HGMD, 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
congenital hydrocephalus
- 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 research 2011) 2 3 4 60
  2. 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 60
  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 PJ (Traffic (Copenhagen, Denmark) 2016) 2 3 60
  4. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. (PMID: 20705733) O'Seaghdha CM … Köttgen A (Human molecular genetics 2010) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for WDR81 Gene

Sources for WDR81 Gene

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