WDR81 Gene
protein-coding GIFtS: 45
GCID: GC17P001567
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WD repeat domain 81
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Aliases for WDR81 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| WD Repeat Domain 811 2 | | FLJ338171 | | CAMRQ22 | | WD Repeat-Containing Protein 812 |
Export aliases for WDR81 gene to outside databases |
Summaries for WDR81 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for WDR81: This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations inthis gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibriumsyndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Jun 2012)
|
Genomic Views for WDR81 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the WDR81 gene promoter: E2F-3a E2F-4 E2F-5 Olf-1 E2F-2 CUTL1 HEN1 E2F E2F-1 Hlf Other transcription factors
Search SABiosciences Chromatin IP Primers for WDR81
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR81 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.3 HGNC cytogenetic band: 17p13.3WDR81 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P001567: view genomic region
(about GC identifiers)
Start:
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1,619,817 bp from pter |
End:
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1,641,893 bp from pter |
Size:
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22,077 bases |
Orientation:
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plus strand |
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Proteins for WDR81 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: WDR81_HUMAN, Q562E7 (See
protein sequence)Recommended Name: WD repeat-containing protein 81 Size: 1941 amino acids; 211697 Da
Sequence caution: Sequence=BAG53978.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KW16 B3KXU1 B7Z579 E9PHG7 Q24JP6 Q8N277 Q8N3F3 Q8TEL1Alternative splicing: 6 isoforms: Q562E7-1 Q562E7-2 Q562E7-3 Q562E7-4 Q562E7-5 Q562E7-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for WDR81: NX_Q562E7
WDR81 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001157145.1 NP_001157281.1 NP_001157283.1 NP_689561.2 ENSEMBL proteins: ENSP00000395226 ENSP00000460742 ENSP00000312074 ENSP00000401560 ENSP00000407845 ENSP00000395198 ENSP00000386609 ENSP00000458811 ENSP00000466240 ENSP00000391074 ENSP00000442726 Human Recombinant Protein Products:
WDR81 Antibody Products: Assay Products for WDR81: |
Protein
Domains / Families for WDR81 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
WDR81 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q562E7ProtoNet protein and cluster: Q562E7 UniProtKB/Swiss-Prot: WDR81_HUMAN, Q562E7Similarity: Contains 1 BEACH domainSimilarity: Contains 5 WD repeats |
Function for WDR81 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WDR81 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR81 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): WDR81 (NM_152348) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WDR81 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR81  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR81 |
1 GenomeRNAi human phenotype for WDR81:
|
Pathways & Interactions for WDR81 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDR81
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 4 Interacting proteins for WDR81 (ENSP000003866094) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0010923 | negative regulation of phosphatase activity |
IDA | 19389623 |
WDR81 for ontologies About GeneDecksing
|
Drugs & Compounds for WDR81 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for WDR81 Search CenterWatch for drugs/clinical trials and news about WDR81 
|
Transcripts for WDR81 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for WDR81 gene (4 alternative transcripts): NM_001163673.1 NM_001163809.1 NM_001163811.1 NM_152348.3 Unigene Cluster for WDR81: WD repeat domain 81 Hs.234572 [show with all ESTs]Unigene Representative Sequence: NM_00116380915 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000455636 ENST00000468539 ENST00000309182(uc002fth.2) ENST00000492901 ENST00000446363 ENST00000419248(uc002fti.2) ENST00000418841 ENST00000409644(uc002ftj.2) ENST00000464528 ENST00000575206 ENST00000474958 ENST00000479966 ENST00000495411 ENST00000437219(uc010vqp.1 uc010vqq.1) ENST00000545662
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WDR81 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR81 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Additional cDNA sequence: AK074356.1 AK091136.1 AK122972.1 AK123896.1 AK127946.1 AK298567.1 AK300986.1 AL834379.1 BC092513.1 BC114519.1 BC114568.1 10 DOTS entries: DT.313658 DT.97819703 DT.86843670 DT.100747888 DT.99963254 DT.40289653 DT.91751328 DT.120948577 DT.102826202 DT.120948628 24/101 AceView cDNA sequences (see all 101): Z41585 F01373 BQ937348 F08317 AA826119 BM983030 BP354361 CA440653 CD673112 AA299430 AK123896 AL834379 CR621271 BU501618 CF121816 AW384537 BQ003403 BQ062141 BE675297 AW615698 AI435458 AK074356 CD672821 BQ016501 GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for WDR81 (see all 9) About this scheme
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for WDR81
|
Expression for WDR81 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| WDR81 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CGTTGTCTGC
About this image See WDR81 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for WDR81
SOURCE GeneReport for Unigene cluster: Hs.234572 UniProtKB/Swiss-Prot: WDR81_HUMAN, Q562E7Tissue specificity: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum SABiosciences Custom PCR Arrays for WDR81
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WDR81 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WDR81 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WDR81 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDR81 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR81 |
Orthologs for WDR81 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for WDR81 gene from 7/25 species (see all 25) About this table
ENSEMBL Gene Tree for WDR81 (if available) TreeFam Gene Tree for WDR81 (if available)  |
Paralogs for WDR81 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for WDR81 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for WDR81 (1619817 - 1641893 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 5 variations for WDR81 5 CNVs: 49826 32148 30021 49827 35433 Human Gene Mutation Database (HGMD): WDR81
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WDR81 |
|
Disorders
/ Diseases for WDR81 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
WDR81 for disorders About GeneDecksing
OMIM gene information: 614218
OMIM disorders: --
UniProtKB/Swiss-Prot: WDR81_HUMAN, Q562E7
Defects in WDR81 are the cause of cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2(CAMRQ2) [MIM:610185]. A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, andinability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findingsinclude generalized brain atrophy and mild hypoplasia of the corpus callosum 8 diseases for WDR81: About MalaCardscerebellar ataxia with mental retardation chediak-higashi syndrome dysequilibrium syndrome cerebellar ataxia ataxia malaria corpus callosum cerebellar hypoplasia 1 disease from the University of Copenhagen DISEASES database for WDR81:Cerebellar ataxia Export disorders for WDR81 gene to outside databases
|
Publications for WDR81 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for WDR81 gene, integrated from 9 sources (see all 14): (articles sorted by number of sources associating them with WDR81) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- The B-cell antigen receptor signals through a preform ed transducer module of SLP65 and CIN85. (PubMed id 21822214)1 Oellerich T....Wienands J. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. (PubMed id 21885617)2 Gulsuner S.... Ozcelik T. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. (PubMed id 20705733)1 O'Seaghdha C.M....KAPttgen A. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (2009)
|
External Searches for WDR81 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing WDR81 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing WDR81 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WDR81 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for WDR81 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for WDR81 gene: Search GeneIP for patents involving WDR81
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for WDR81 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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 | | WDR81 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR81 |
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