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Aliases for WDR60 Gene

Aliases for WDR60 Gene

  • WD Repeat Domain 60 2 3 5
  • Testicular Secretory Protein Li 66 3
  • WD Repeat-Containing Protein 60 3
  • FAP163 3
  • SRPS6 3
  • SRTD8 3

External Ids for WDR60 Gene

Previous GeneCards Identifiers for WDR60 Gene

  • GC07P158149
  • GC07P158342
  • GC07P158649
  • GC07P152387

Summaries for WDR60 Gene

Entrez Gene Summary for WDR60 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

GeneCards Summary for WDR60 Gene

WDR60 (WD Repeat Domain 60) is a Protein Coding gene. Diseases associated with WDR60 include Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

UniProtKB/Swiss-Prot for WDR60 Gene

  • May play a role in ciliogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR60 Gene

Genomics for WDR60 Gene

Regulatory Elements for WDR60 Gene

Enhancers for WDR60 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
GH07F158855 0.2 ENCODE 56.4 +1.2 1238 4.8 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 WDR60 ESYT2 LINC00689 GC07P158862
GH07F158862 1.6 FANTOM5 Ensembl ENCODE 55.6 +8.1 8054 4.2 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SLC30A9 FOS SP3 WDR60 ESYT2 LINC00689 GC07P158862
GH07F158868 0.4 ENCODE 15.9 +12.3 12310 0.6 SMARCA4 POLR2A ZIC2 WDR60 ESYT2 GC07P158862 LINC00689
GH07F158809 0.9 FANTOM5 Ensembl ENCODE 11.1 -38.8 -38822 16.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF766 ZNF143 FOS ESYT2 WDR60 NCAPG2 PIR38782
GH07F158778 0.9 Ensembl ENCODE 8 -76.9 -76918 1.4 CTCF ESRRA NFIA ZKSCAN1 ZNF121 ZNF664 MEF2D NR2F6 FOS TCF7L2 ESYT2 NCAPG2 WDR60 PIR61971 GC07P158720
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WDR60 on UCSC Golden Path with GeneCards custom track

Promoters for WDR60 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000637005 123 2200 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1

Transcription factor binding sites by QIAGEN in the WDR60 gene promoter:

Genomic Location for WDR60 Gene

Chromosome:
7
Start:
158,856,578 bp from pter
End:
158,956,747 bp from pter
Size:
100,170 bases
Orientation:
Plus strand

Genomic View for WDR60 Gene

Genes around WDR60 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR60 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR60 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR60 Gene

Proteins for WDR60 Gene

  • Protein details for WDR60 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVS4-WDR60_HUMAN
    Recommended name:
    WD repeat-containing protein 60
    Protein Accession:
    Q8WVS4
    Secondary Accessions:
    • Q9NW58

    Protein attributes for WDR60 Gene

    Size:
    1066 amino acids
    Molecular mass:
    122571 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91528.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for WDR60 Gene

Post-translational modifications for WDR60 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WDR60 Gene

Domains & Families for WDR60 Gene

Gene Families for WDR60 Gene

Protein Domains for WDR60 Gene

Suggested Antigen Peptide Sequences for WDR60 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVS4

UniProtKB/Swiss-Prot:

WDR60_HUMAN :
  • Contains 8 WD repeats.
Similarity:
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with WDR60: view

Function for WDR60 Gene

Molecular function for WDR60 Gene

UniProtKB/Swiss-Prot Function:
May play a role in ciliogenesis.

Gene Ontology (GO) - Molecular Function for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
genes like me logo Genes that share ontologies with WDR60: view

Phenotypes for WDR60 Gene

GenomeRNAi human phenotypes for WDR60:
genes like me logo Genes that share phenotypes with WDR60: view

Human Phenotype Ontology for WDR60 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for WDR60 Gene

miRTarBase miRNAs that target WDR60

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR60 Gene

Localization for WDR60 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR60 Gene

Cell projection, cilium. Note=Located at the base of the primary cilium in serum-starved fibroblasts.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR60 Gene COMPARTMENTS Subcellular localization image for WDR60 gene
Compartment Confidence
extracellular 5
nucleus 4
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
GO:0070062 extracellular exosome IDA 23376485
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with WDR60: view

Pathways & Interactions for WDR60 Gene

genes like me logo Genes that share pathways with WDR60: view

Pathways by source for WDR60 Gene

Gene Ontology (GO) - Biological Process for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with WDR60: view

No data available for SIGNOR curated interactions for WDR60 Gene

Transcripts for WDR60 Gene

Unigene Clusters for WDR60 Gene

WD repeat domain 60:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR60 Gene

No ASD Table

Relevant External Links for WDR60 Gene

GeneLoc Exon Structure for
WDR60
ECgene alternative splicing isoforms for
WDR60

Expression for WDR60 Gene

mRNA expression in normal human tissues for WDR60 Gene

Protein differential expression in normal tissues from HIPED for WDR60 Gene

This gene is overexpressed in Testis (36.6), Liver (19.5), and Frontal cortex (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR60 Gene



Protein tissue co-expression partners for WDR60 Gene

NURSA nuclear receptor signaling pathways regulating expression of WDR60 Gene:

WDR60

SOURCE GeneReport for Unigene cluster for WDR60 Gene:

Hs.389945

mRNA Expression by UniProt/SwissProt for WDR60 Gene:

Q8WVS4-WDR60_HUMAN
Tissue specificity: Expressed in chondrocytes (at protein level).
genes like me logo Genes that share expression patterns with WDR60: 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 WDR60 Gene

Orthologs for WDR60 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR60 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia Wdr60 34
  • 78.27 (n)
mouse
(Mus musculus)
Mammalia Wdr60 34 16 35
  • 78.22 (n)
dog
(Canis familiaris)
Mammalia WDR60 34 35
  • 78.13 (n)
cow
(Bos Taurus)
Mammalia WDR60 34 35
  • 72.52 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR60 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR60 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR60 34 35
  • 58.31 (n)
lizard
(Anolis carolinensis)
Reptilia WDR60 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr60 34
  • 53.3 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330581 34
  • 51.49 (n)
WDR60 35
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15701 35
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27F2.1 35
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2615 35
  • 31 (a)
OneToOne
Species where no ortholog for WDR60 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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 WDR60 Gene

ENSEMBL:
Gene Tree for WDR60 (if available)
TreeFam:
Gene Tree for WDR60 (if available)

Paralogs for WDR60 Gene

(2) SIMAP similar genes for WDR60 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with WDR60: view

No data available for Paralogs for WDR60 Gene

Variants for WDR60 Gene

Sequence variations from dbSNP and Humsavar for WDR60 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs587777065 Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503], Pathogenic 158,923,722(+) CGCCA(C/T)GTTTT nc-transcript-variant, reference, missense
rs587777064 Pathogenic 158,918,839(+) CATCT(C/T)AGCTG nc-transcript-variant, reference, stop-gained
rs587777066 Pathogenic 158,914,230(+) TTTTT(A/C/T)AGGCA intron-variant
rs10223983 -- 158,919,112(+) AAACA(A/T)GTGAG intron-variant
rs10225861 -- 158,858,641(+) GAGCT(C/T)ACTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WDR60 Gene

Variant ID Type Subtype PubMed ID
dgv11804n54 CNV gain 21841781
dgv4030e59 CNV duplication 20981092
dgv4031e59 CNV duplication 20981092
dgv438n21 CNV gain 19592680
dgv6772n100 CNV gain 25217958
esv1008368 CNV insertion 20482838
esv1245660 CNV deletion 17803354
esv1379791 CNV insertion 17803354
esv1473673 CNV deletion 17803354
esv1582813 CNV insertion 17803354
esv1742608 CNV insertion 17803354
esv2492959 CNV deletion 19546169
esv2669394 CNV deletion 23128226
esv28360 CNV gain+loss 19812545
esv3399474 CNV insertion 20981092
esv3542823 CNV deletion 23714750
esv3542826 CNV deletion 23714750
esv3576497 CNV gain 25503493
esv3615741 CNV gain 21293372
esv3615746 CNV gain 21293372
esv3615748 CNV gain 21293372
esv3615749 CNV gain 21293372
esv3615753 CNV gain 21293372
esv3891247 CNV gain 25118596
esv9128 CNV loss 19470904
nsv1025959 CNV gain 25217958
nsv1032688 CNV loss 25217958
nsv1115768 CNV duplication 24896259
nsv18 CNV insertion 15895083
nsv465262 CNV gain 19166990
nsv509238 CNV insertion 20534489
nsv519749 CNV loss 19592680
nsv526756 CNV gain 19592680
nsv527634 CNV gain 19592680
nsv6028 CNV insertion 18451855
nsv609363 CNV loss 21841781
nsv609419 CNV gain 21841781
nsv609421 CNV loss 21841781
nsv609423 CNV gain 21841781
nsv609424 CNV gain 21841781
nsv8250 CNV gain 18304495

Variation tolerance for WDR60 Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR60 Gene

Human Gene Mutation Database (HGMD)
WDR60
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR60

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR60 Gene

Disorders for WDR60 Gene

MalaCards: The human disease database

(6) MalaCards diseases for WDR60 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 8 with or without polydactyly
  • short rib-polydactyly syndrome type vi
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
short-rib thoracic dysplasia 1 with or without polydactyly
  • asphyxiating thoracic dystrophy
polydactyly
  • postaxial polydactyly
ellis-van creveld syndrome
  • chondroectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search WDR60 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WDR60_HUMAN
  • Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:23910462}. Note=The disease is caused by mutations affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.

Relevant External Links for WDR60

Genetic Association Database (GAD)
WDR60
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR60
genes like me logo Genes that share disorders with WDR60: view

No data available for Genatlas for WDR60 Gene

Publications for WDR60 Gene

  1. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. (PMID: 23910462) McInerney-Leo A.M. … Wicking C. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. Identification of ten loci associated with height highlights new biological pathways in human growth. (PMID: 18391950) Lettre G. … Hirschhorn J.N. (Nat. Genet. 2008) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. (PMID: 26874042) Cossu C. … Rosatelli M.C. (Clin. Chim. Acta 2016) 3 64

Products for WDR60 Gene

Sources for WDR60 Gene

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