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Aliases for WDR60 Gene

Aliases for WDR60 Gene

  • WD Repeat Domain 60 2 3
  • SRPS6 3 6
  • SRTD8 3 6
  • WD Repeat-Containing Protein 60 3
  • FAP163 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.

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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for WDR60 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for WDR60 Gene at MOPED

Post-translational modifications for WDR60 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR60 Gene

No data available for DME Specific Peptides for WDR60 Gene

Domains for WDR60 Gene

Gene Families for WDR60 Gene

HGNC:
  • WDR :WD repeat domain containing

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 :
  • Q8WVS4
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 --
genes like me logo Genes that share ontologies with WDR60: view

Animal Model Products

miRNA for WDR60 Gene

miRTarBase miRNAs that target WDR60

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR60

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
nucleus 3
cytoskeleton 1
cytosol 1

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 --
GO:0070062 extracellular exosome IDA 23376485
GO:0072372 primary cilium TAS --
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with WDR60: view

Pathways for WDR60 Gene

SuperPathways for WDR60 Gene

No Data Available

Interacting Proteins for WDR60 Gene

Gene Ontology (GO) - Biological Process for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with WDR60: view

No data available for Pathways by source for WDR60 Gene

Transcripts for WDR60 Gene

Unigene Clusters for WDR60 Gene

WD repeat domain 60:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR60

Primer 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 for WDR60 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR60 Gene

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 expressions with WDR60: view

Expression partners for WDR60 Gene

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 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
cow
(Bos Taurus)
Mammalia WDR60 35
  • 72.52 (n)
  • 70.74 (a)
WDR60 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR60 35
  • 78.13 (n)
  • 75.74 (a)
WDR60 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr60 35
  • 78.22 (n)
  • 75.05 (a)
Wdr60 16
Wdr60 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr60 35
  • 78.27 (n)
  • 75.15 (a)
oppossum
(Monodelphis domestica)
Mammalia WDR60 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR60 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR60 35
  • 58.31 (n)
  • 49.46 (a)
WDR60 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR60 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr60 35
  • 53.3 (n)
  • 44.49 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100330581 35
  • 51.49 (n)
  • 41.04 (a)
WDR60 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15701 36
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27F2.1 36
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2615 36
  • 31 (a)
OneToOne
Species with no ortholog for WDR60:
  • 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

Selected 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 MAF
rs262143 -- 158,922,878(-) AAAAA(A/C)ACAGG intron-variant
rs710421 -- 158,875,884(-) TCTGC(A/G)TATCA intron-variant
rs712197 -- 158,868,155(+) ATCAG(C/G)TTGAC intron-variant
rs712198 -- 158,868,232(+) ATAGT(C/T)CCCTC intron-variant
rs712199 -- 158,869,559(+) ATATT(C/T)GTCCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv889644 CNV Gain 21882294
nsv889647 CNV Gain 21882294
nsv889648 CNV Gain 21882294
nsv889649 CNV Gain 21882294
nsv527634 CNV Gain 19592680
dgv438n21 CNV Gain 19592680
nsv509238 CNV Insertion 20534489
nsv519749 CNV Loss 19592680
nsv889650 CNV Gain 21882294
nsv465262 CNV Gain 19166990
nsv889651 CNV Gain 21882294
nsv18 CNV Insertion 15895083
nsv6028 CNV Insertion 18451855
esv1008368 CNV Insertion 20482838
nsv8250 CNV Gain 18304495
esv28360 CNV Gain+Loss 19812545
esv1473673 CNV Deletion 17803354
esv2492959 CNV Deletion 19546169
esv9128 CNV Loss 19470904
esv2669394 CNV Deletion 23128226
esv1742608 CNV Insertion 17803354
esv1379791 CNV Insertion 17803354
esv1582813 CNV Insertion 17803354
esv1245660 CNV Deletion 17803354
nsv526756 CNV Gain 19592680
esv268438 CNV Insertion 20981092
nsv889652 CNV Loss 21882294
nsv889653 CNV Loss 21882294

Relevant External Links for WDR60 Gene

HapMap Linkage Disequilibrium report
WDR60
Human Gene Mutation Database (HGMD)
WDR60

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

Disorders for WDR60 Gene

(1) OMIM Diseases for WDR60 Gene (615462)

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

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and 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
  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 48
  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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3

Products for WDR60 Gene

Sources for WDR60 Gene

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