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Aliases for WDR73 Gene

Aliases for WDR73 Gene

  • WD Repeat Domain 73 2 3 5
  • FLJ00296 Protein 3
  • HSPC264 3
  • GAMOS 3

External Ids for WDR73 Gene

Previous GeneCards Identifiers for WDR73 Gene

  • GC15M082988
  • GC15M085185
  • GC15M061271

Summaries for WDR73 Gene

Entrez Gene Summary for WDR73 Gene

  • The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneCards Summary for WDR73 Gene

WDR73 (WD Repeat Domain 73) is a Protein Coding gene. Diseases associated with WDR73 include galloway-mowat syndrome and spinocerebellar ataxia autosomal recessive 5.

UniProtKB/Swiss-Prot for WDR73 Gene

  • May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR73 Gene

Genomics for WDR73 Gene

Regulatory Elements for WDR73 Gene

Promoters for WDR73 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WDR73 on UCSC Golden Path with GeneCards custom track

Genomic Location for WDR73 Gene

Chromosome:
15
Start:
84,639,281 bp from pter
End:
84,654,343 bp from pter
Size:
15,063 bases
Orientation:
Minus strand

Genomic View for WDR73 Gene

Genes around WDR73 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR73 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR73 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR73 Gene

Proteins for WDR73 Gene

  • Protein details for WDR73 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P4I2-WDR73_HUMAN
    Recommended name:
    WD repeat-containing protein 73
    Protein Accession:
    Q6P4I2
    Secondary Accessions:
    • Q96JZ1
    • Q9P0B7

    Protein attributes for WDR73 Gene

    Size:
    378 amino acids
    Molecular mass:
    41685 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF28942.1; Type=Frameshift; Positions=374; Evidence={ECO:0000305};

neXtProt entry for WDR73 Gene

Proteomics data for WDR73 Gene at MOPED

Post-translational modifications for WDR73 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR73 Gene

No data available for DME Specific Peptides for WDR73 Gene

Domains & Families for WDR73 Gene

Gene Families for WDR73 Gene

Protein Domains for WDR73 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P4I2

UniProtKB/Swiss-Prot:

WDR73_HUMAN :
  • Belongs to the WD repeat WDR73 family.
  • Contains 6 WD repeats.
Family:
  • Belongs to the WD repeat WDR73 family.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with WDR73: view

Function for WDR73 Gene

Molecular function for WDR73 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).
genes like me logo Genes that share phenotypes with WDR73: view

Human Phenotype Ontology for WDR73 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for WDR73 Gene

miRTarBase miRNAs that target WDR73

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR73 Gene

Localization for WDR73 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR73 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Cleavage furrow. Note=During interphase, located in the cytosol. During mitosis, accumulates at the spindle poles and microtubule asters and later in the cleavage furrow. {ECO:0000269 PubMed:25466283}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR73 Gene COMPARTMENTS Subcellular localization image for WDR73 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for WDR73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
genes like me logo Genes that share ontologies with WDR73: view

Pathways & Interactions for WDR73 Gene

SuperPathways for WDR73 Gene

No Data Available

Interacting Proteins for WDR73 Gene

Gene Ontology (GO) - Biological Process for WDR73 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WDR73 Gene

Drugs & Compounds for WDR73 Gene

No Compound Related Data Available

Transcripts for WDR73 Gene

Unigene Clusters for WDR73 Gene

WD repeat domain 73:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WDR73 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - -
SP14: - - - -
SP15: - - -
SP16: - -
SP17:
SP18: - -

ExUns: 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for WDR73 Gene

GeneLoc Exon Structure for
WDR73
ECgene alternative splicing isoforms for
WDR73

Expression for WDR73 Gene

mRNA expression in normal human tissues for WDR73 Gene

Protein differential expression in normal tissues from HIPED for WDR73 Gene

This gene is overexpressed in NK cells (53.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR73 Gene



SOURCE GeneReport for Unigene cluster for WDR73 Gene Hs.745027

mRNA Expression by UniProt/SwissProt for WDR73 Gene

Q6P4I2-WDR73_HUMAN
Tissue specificity: Expressed in kidney and brain. In the kidney, expressed in glomeruli, most probably in podocytes, and in tubules (at protein level). In the brain, expressed in the cerebellum, with high levels in Purkinje cells and their projecting axons, in the deep cerebellar nuclei and in pyramidal neurons of the cerebral cortex (at protein level). In the white matter, mainly present in astrocytes, but not in oligodendrocytes (at protein level). Also highly expressed in endothelial cells of cerebral capillaries (at protein level).
genes like me logo Genes that share expression patterns with WDR73: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for WDR73 Gene

Orthologs for WDR73 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WDR73 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WDR73 35
  • 87.18 (n)
  • 85.47 (a)
WDR73 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR73 35
  • 86.22 (n)
  • 81.89 (a)
WDR73 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr73 35
  • 82.07 (n)
  • 79.73 (a)
Wdr73 16
Wdr73 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR73 35
  • 99.47 (n)
  • 99.74 (a)
WDR73 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr73 35
  • 81.53 (n)
  • 79.73 (a)
oppossum
(Monodelphis domestica)
Mammalia WDR73 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR73 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR73 35
  • 58.98 (n)
  • 50.17 (a)
WDR73 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR73 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr73 35
  • 53.58 (n)
  • 41.58 (a)
zebrafish
(Danio rerio)
Actinopterygii wdr73 35
  • 49.4 (n)
  • 41.87 (a)
wdr73 36
  • 40 (a)
OneToOne
Species with no ortholog for WDR73:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for WDR73 Gene

ENSEMBL:
Gene Tree for WDR73 (if available)
TreeFam:
Gene Tree for WDR73 (if available)

Paralogs for WDR73 Gene

(1) SIMAP similar genes for WDR73 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with WDR73: view

No data available for Paralogs for WDR73 Gene

Variants for WDR73 Gene

Sequence variations from dbSNP and Humsavar for WDR73 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs11073619 - 84,645,608(+) AAAGA(C/T)GCCCA nc-transcript-variant, reference, missense
rs7237 -- 84,643,346(+) GCTGG(C/T)AGACT nc-transcript-variant, utr-variant-3-prime
rs9595 -- 84,647,344(-) GGGGC(A/T)GTGGC intron-variant
rs309429 -- 84,650,434(-) gcagt(A/G)agcca intron-variant
rs510875 -- 84,643,406(-) GTGCT(C/G)ATGTA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for WDR73 Gene

Variant ID Type Subtype PubMed ID
nsv428310 CNV Gain+Loss 18775914
esv2672879 CNV Deletion 23128226
nsv515983 CNV Loss 19592680

Variation tolerance for WDR73 Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.56; 86.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WDR73 Gene

HapMap Linkage Disequilibrium report
WDR73
Human Gene Mutation Database (HGMD)
WDR73

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR73 Gene

Disorders for WDR73 Gene

MalaCards: The human disease database

(4) MalaCards diseases for WDR73 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome
  • galloway syndrome
spinocerebellar ataxia autosomal recessive 5
  • camos
nephrotic syndrome
  • finnish congenital nephrosis
autosomal recessive disease
- elite association - COSMIC cancer census association via MalaCards
Search WDR73 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WDR73_HUMAN
  • Galloway-Mowat syndrome (GAMOS) [MIM:251300]: A rare, autosomal recessive disease with onset in infancy, and characterized by microcephaly, central nervous system abnormalities resulting in severe neurological impairment and intellectual disability, and nephrotic syndrome. Most patients develop seizures and nephrotic syndrome late in childhood. Note=The disease is caused by mutations affecting the gene represented in this entry. {ECO:0000269 PubMed:25466283}.

Relevant External Links for WDR73

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR73
genes like me logo Genes that share disorders with WDR73: view

No data available for Genatlas for WDR73 Gene

Publications for WDR73 Gene

  1. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. (PMID: 25466283) Colin E. … Antignac C. (Am. J. Hum. Genet. 2014) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. (PMID: 25873735) Ben-Omran T. … Tropepe V. (J. Med. Genet. 2015) 3
  4. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. (PMID: 26070982) Jinks R.N. … Strauss K.A. (Brain 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for WDR73 Gene

Sources for WDR73 Gene

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