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 mor... See more...

Aliases for WDR73 Gene

Aliases for WDR73 Gene

  • WD Repeat Domain 73 2 3 5
  • WD Repeat-Containing Protein 73 3 4
  • 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. An important paralog of this gene is GEMIN5.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH15J084652 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 528.4 +0.1 93 3.3 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 POLR2G SP1 NCOR1 WDR73 lnc-WDR73-7 NMB SCAND2P RN7SL331P ENSG00000259683 piR-60051-035
GH15J084655 Enhancer 0.2 ENCODE 500.7 -1.7 -1677 0.1 WDR73 lnc-WDR73-7 NMB
GH15J084569 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 37.5 +83.9 83876 3.3 HNRNPK FOXK2 ZNF217 EP300 CTCF TCF12 MYC NRF1 POLR2G NCOR1 LINC00933 UBE2Q2P1 lnc-WDR73-3 WDR73 GOLGA6L5P GOLGA6L4 SCAND2P ZSCAN2 ENSG00000256278 NMB
GH15J084630 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 30.2 +21.2 21242 5.8 ZBTB40 ZNF217 TCF12 NRF1 POLR2G SP1 GTF2E2 SIX5 FOS ZFX SCAND2P EGLN1P1 ENSG00000275120 lnc-WDR73-10 lnc-ZSCAN2-5 NMB WDR73 GOLGA6L4 ZSCAN2 ZNF592
GH15J084657 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 26.9 -4.0 -3989 1.9 CTCF POLR2G PHF8 POLR2A GABPA ZBTB26 ZBTB7A SKI HDAC2 ZNF341 NMB WDR73 lnc-WDR73-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR73 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR73

Top Transcription factor binding sites by QIAGEN in the WDR73 gene promoter:
  • ARP-1
  • FOXO4
  • GR
  • GR-alpha
  • HOXA5
  • NF-AT
  • NF-AT1
  • NF-AT3

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)
Size:
11,576 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; Evidence={ECO:0000305};

neXtProt entry for WDR73 Gene

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

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

Protein Domains for WDR73 Gene

Suggested Antigen Peptide Sequences for WDR73 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ31167 fis, clone KIDNE1000145, highly similar to Homo sapiens WD repeat domain 73 (WDR73), mRNA (B3KP50_HUMAN)
  • WDR73 protein (Q5RKY8_HUMAN)
  • WDR73 protein (Q6PJL8_HUMAN)
  • WD repeat-containing protein 73 (WDR73_HUMAN)

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 --
GO:0005515 protein binding IEA --
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

Animal Model Products

CRISPR Products

miRNA for WDR73 Gene

miRTarBase miRNAs that target WDR73

Clone Products

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
plasma membrane 3
cytoskeleton 3
nucleus 3
endoplasmic reticulum 1
peroxisome 0

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 IEA,IDA 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

PathCards logo

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

mRNA/cDNA for WDR73 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for WDR73 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for WDR73 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • 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
Regions:
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 31 30
  • 99.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR73 31 30
  • 87.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR73 31 30
  • 86.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr73 17 31 30
  • 82.07 (n)
rat
(Rattus norvegicus)
Mammalia Wdr73 30
  • 81.53 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR73 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR73 31
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR73 31 30
  • 58.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR73 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr73 30
  • 53.58 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr73 31 30
  • 49.4 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for WDR73: view image

Paralogs for WDR73 Gene

Paralogs for WDR73 Gene

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

  • WDR73_HUMAN
  • B3KP50_HUMAN
  • H0YLH0_HUMAN
  • H0YMT3_HUMAN
  • H0YMX2_HUMAN
  • Q5RKY8_HUMAN
  • Q6PJL8_HUMAN
genes like me logo Genes that share paralogs with WDR73: view

Variants for WDR73 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR73 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
598566 Uncertain Significance: not provided 84,643,655(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
679398 Benign: not provided 84,645,763(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1035593132 Uncertain Significance: not provided 84,654,231(-) T/C NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs1261931467 Uncertain Significance: not provided 84,645,588(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1567021756 Likely Pathogenic: not provided 84,645,482(-) A/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for WDR73 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for WDR73 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
galloway-mowat syndrome 1
  • gamos1
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
partial optic atrophy
nephrotic syndrome
  • finnish congenital nephrotic syndrome
hernia, hiatus
  • hiatal hernia
- 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 1 (GAMOS1) [MIM:251300]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive. {ECO:0000269 PubMed:25466283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. (PMID: 29929488) Al-Rakan MA … Alfadhel M (BMC ophthalmology 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  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 54

Products for WDR73 Gene

Sources for WDR73 Gene