Free for academic non-profit institutions. Other users need a Commercial license

Aliases for WDR73 Gene

Aliases for WDR73 Gene

  • WD Repeat Domain 73 2 3 5
  • WD Repeat-Containing Protein 73 3
  • FLJ00296 Protein 3
  • HSPC264 3
  • GAMOS1 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 1 and Galloway-Mowat Syndrome.

UniProtKB/Swiss-Prot for WDR73 Gene

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

Additional gene information for WDR73 Gene

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

Genomics for WDR73 Gene

GeneHancer (GH) Regulatory Elements for WDR73 Gene

Promoters and enhancers for WDR73 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I084652 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 578.5 -0.1 -76 3 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 SLC30A9 WDR73 NMB SCAND2P RN7SL331P ENSG00000259683
GH15I084714 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 74.8 -61.6 -61618 3.4 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 ZNF548 SP3 SEC11A SCAND2P WDR73 NMB GOLGA6L5P ZNF592 LINC00933 UBE2Q2P1 GOLGA6L4 CSPG4P12
GH15I084655 Enhancer 0.2 ENCODE 550.8 -1.7 -1677 0.1 WDR73 NMB
GH15I084569 Promoter/Enhancer 1.6 Ensembl ENCODE 45.9 +83.5 83481 2.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 LINC00933 UBE2Q2P1 WDR73 SCAND2P GOLGA6L4 ZSCAN2 GOLGA6L3 GOLGA6L5P ENSG00000256278 NMB
GH15I084630 Promoter/Enhancer 1.6 Ensembl ENCODE 42.5 +21.7 21724 4.4 HDGF PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 POLR2B ZNF766 SCAND2P ENSG00000275120 GC15M084630 EGLN1P1 NMB WDR73 GOLGA6L4 LINC00933 ZNF592 RN7SL331P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR73 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WDR73 gene promoter:

Genomic Locations for WDR73 Gene

Genomic Locations for WDR73 Gene
chr15:84,639,281-84,654,343
(GRCh38/hg38)
Size:
15,063 bases
Orientation:
Minus strand
chr15:85,185,999-85,197,574
(GRCh37/hg19)

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

Post-translational modifications for WDR73 Gene

No Post-translational modifications

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

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

Graphical View of Domain Structure for InterPro Entry

Q6P4I2

UniProtKB/Swiss-Prot:

WDR73_HUMAN :
  • Belongs to the WD repeat WDR73 family.
Family:
  • Belongs to the WD repeat WDR73 family.
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).

Phenotypes From GWAS Catalog for WDR73 Gene

Gene Ontology (GO) - Molecular Function for WDR73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with WDR73: view
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

miRNA for WDR73 Gene

miRTarBase miRNAs that target WDR73

No data available for Enzyme Numbers (IUBMB) , 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
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 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 colocalizes_with spindle pole IDA 25466283
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005829 colocalizes_with cytosol IDA,IEA 25466283
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with WDR73: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WDR73 Gene

Pathways & Interactions for WDR73 Gene

SuperPathways for WDR73 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization IMP 25466283
GO:0031122 cytoplasmic microtubule organization IMP 25466283
GO:0043066 negative regulation of apoptotic process IMP 25466283
genes like me logo Genes that share ontologies with WDR73: view

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for WDR73 Gene



NURSA nuclear receptor signaling pathways regulating expression of WDR73 Gene:

WDR73

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).

Evidence on tissue expression from TISSUES for WDR73 Gene

  • Nervous system(4.7)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR73 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • placenta
  • prostate
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with WDR73: view

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
chimpanzee
(Pan troglodytes)
Mammalia WDR73 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia WDR73 33 34
  • 87.18 (n)
dog
(Canis familiaris)
Mammalia WDR73 33 34
  • 86.22 (n)
mouse
(Mus musculus)
Mammalia Wdr73 33 16 34
  • 82.07 (n)
rat
(Rattus norvegicus)
Mammalia Wdr73 33
  • 81.53 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR73 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR73 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR73 33 34
  • 58.98 (n)
lizard
(Anolis carolinensis)
Reptilia WDR73 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr73 33
  • 53.58 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr73 33 34
  • 49.4 (n)
Species where no ortholog for WDR73 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)
  • 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 Variation AA Info Type
rs727502863 pathogenic, Galloway-Mowat syndrome 84,652,783(-) A/C coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs727502864 pathogenic, Galloway-Mowat syndrome 84,645,588(-) GGGGG/GGGGGG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs747109506 uncertain-significance, likely-pathogenic, not specified, not provided 84,643,475(-) GGGGGG/GGGGG/GGGGGGG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs754099015 pathogenic, Galloway-Mowat syndrome 84,643,568(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs767086146 pathogenic, Galloway-Mowat syndrome 84,646,300(-) CTCTC/CTC coding_sequence_variant, frameshift, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2672879 CNV deletion 23128226
esv3637095 CNV gain 21293372
esv3637097 CNV gain 21293372
nsv428310 CNV gain+loss 18775914
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)

Additional Variant Information for WDR73 Gene

Human Gene Mutation Database (HGMD)
WDR73
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR73

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

Disorders for WDR73 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WDR73 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome 1
  • gamos1
galloway-mowat syndrome
  • galloway syndrome
autosomal recessive disease
nephrotic syndrome
  • finnish congenital nephrosis
microcephaly
  • microcephalus
- 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}.

Additional Disease Information for 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 (American journal of human genetics 2014) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. (PMID: 27983999) Jiang C … Wu L (Clinica chimica acta; international journal of clinical chemistry 2017) 3 58

Products for WDR73 Gene

Sources for WDR73 Gene

Content
Loading form....