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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.

Additional gene information for WDR60 Gene

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

Genomics for WDR60 Gene

GeneHancer (GH) Regulatory Elements for WDR60 Gene

Promoters and enhancers for WDR60 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I158855 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 606.5 +1.2 1238 4.8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 WDR60 NCAPG2 ESYT2 LINC00689 GC07P158855 GC07P158862
GH07I158862 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 64.4 +8.1 8054 4.2 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A SLC30A9 WDR60 ESYT2 NCAPG2 LINC00689 GC07P158862
GH07I158702 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.8 -152.2 -152194 3.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 POLR2B NCAPG2 WDR60 ESYT2 GC07M158623 THAP5P1
GH07I158785 Enhancer 1 ENCODE dbSUPER 24.7 -70.5 -70503 1 ZNF493 ZNF529 ZFP64 ZNF354C ZNF138 ZNF202 ZNF680 ZBTB11 ZC3H11A REST ESYT2 WDR60 NCAPG2 PIR61971 GC07P158720
GH07I158782 Enhancer 1.2 Ensembl ENCODE dbSUPER 17 -72.8 -72770 3 CLOCK ZNF493 ZNF529 SIN3A RAD21 ZNF354C ZNF138 FOS ZNF202 ZNF680 ESYT2 WDR60 NCAPG2 PIR61971 GC07P158720
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR60 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for WDR60 Gene

Genomic Locations for WDR60 Gene
100,170 bases
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:
    Recommended name:
    WD repeat-containing protein 60
    Protein Accession:
    Secondary Accessions:
    • Q9NW58

    Protein attributes for WDR60 Gene

    1066 amino acids
    Molecular mass:
    122571 Da
    Quaternary structure:
    • Interacts with TCTEX1D2.
    • 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

No Post-translational modifications

No data available for DME Specific Peptides for WDR60 Gene

Domains & Families for WDR60 Gene

Gene Families for WDR60 Gene

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

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

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

No data available for UniProtKB/Swiss-Prot for WDR60 Gene

Function for WDR60 Gene

Molecular function for WDR60 Gene

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

Phenotypes From GWAS Catalog for WDR60 Gene

Gene Ontology (GO) - Molecular Function for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
GO:0008574 contributes_to ATP-dependent microtubule motor activity, plus-end-directed IBA --
GO:0045503 dynein light chain binding IPI 25830415
GO:0045504 dynein heavy chain binding IBA --
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

Clone 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

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 WDR60 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 25205765
GO:0000922 colocalizes_with spindle pole IDA 25830415
GO:0005615 extracellular space IDA,HDA 22664934
GO:0005813 colocalizes_with centrosome IDA 25830415
GO:0005868 cytoplasmic dynein complex IDA 25205765
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:0007018 microtubule-based movement IBA --
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0048704 embryonic skeletal system morphogenesis IMP 23910462
GO:0060271 cilium assembly IMP 23910462
genes like me logo Genes that share ontologies with WDR60: view

No data available for SIGNOR curated interactions for WDR60 Gene

Drugs & Compounds for WDR60 Gene

No Compound Related Data Available

Transcripts for WDR60 Gene

Unigene Clusters for WDR60 Gene

WD repeat domain 60:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for WDR60 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WDR60 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for WDR60 Gene:


mRNA Expression by UniProt/SwissProt for WDR60 Gene:

Tissue specificity: Expressed in chondrocytes (at protein level).

Evidence on tissue expression from TISSUES for WDR60 Gene

  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR60 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • pelvis
  • penis
  • placenta
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with WDR60: view

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
(Rattus norvegicus)
Mammalia Wdr60 33
  • 78.27 (n)
(Mus musculus)
Mammalia Wdr60 33 16 34
  • 78.22 (n)
(Canis familiaris)
Mammalia WDR60 33 34
  • 78.13 (n)
(Bos Taurus)
Mammalia WDR60 33 34
  • 72.52 (n)
(Monodelphis domestica)
Mammalia WDR60 34
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia WDR60 34
  • 56 (a)
(Gallus gallus)
Aves WDR60 33 34
  • 58.31 (n)
(Anolis carolinensis)
Reptilia WDR60 34
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr60 33
  • 53.3 (n)
(Danio rerio)
Actinopterygii LOC100330581 33
  • 51.49 (n)
WDR60 34
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15701 34
  • 18 (a)
(Caenorhabditis elegans)
Secernentea C27F2.1 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2615 34
  • 31 (a)
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

Gene Tree for WDR60 (if available)
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 Variation AA Info Type
rs113911955 benign, Short-rib thoracic dysplasia 8 with or without polydactyly 158,922,371(+) CCC/CC intron_variant
rs11505215 benign, Short-rib thoracic dysplasia 8 with or without polydactyly 158,926,448(+) G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs139730326 benign, Short-rib thoracic dysplasia 8 with or without polydactyly 158,887,026(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs143753088 benign, Short-rib thoracic dysplasia 8 with or without polydactyly 158,913,079(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs193204571 pathogenic, Short-rib polydactyly syndrome type III, Jeune thoracic dystrophy 158,926,234(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information for WDR60 Gene

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

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

Disorders for WDR60 Gene

MalaCards: The human disease database

(7) MalaCards diseases for WDR60 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WDR60 in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:25492405}. 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.

Additional Disease Information for 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 AM … Wicking C (American journal of human genetics 2013) 2 3 4 58
  2. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M … Witman GB (Nature communications 2015) 3 4 58
  3. Identification of ten loci associated with height highlights new biological pathways in human growth. (PMID: 18391950) Lettre G … Hirschhorn JN (Nature genetics 2008) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for WDR60 Gene

Sources for WDR60 Gene

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