Gene Gene information from NCBI Gene database.
Entrez ID 84942
Gene name WD repeat domain 73
Gene symbol WDR73
Synonyms (NCBI Gene)
GAMOSGAMOS1HSPC264
Chromosome 15
Chromosome location 15q25.2
Summary 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 spind
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs201294090 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
rs727502863 A>C Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs727502864 ->G Pathogenic-likely-pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs747109506 G>-,GG,GGG Conflicting-interpretations-of-pathogenicity Non coding transcript variant, frameshift variant, coding sequence variant
rs754099015 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
286
miRTarBase ID miRNA Experiments Reference
MIRT027597 hsa-miR-98-5p Microarray 19088304
MIRT690717 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT690716 hsa-miR-5588-3p HITS-CLIP 23313552
MIRT690715 hsa-miR-2114-5p HITS-CLIP 23313552
MIRT690714 hsa-miR-3614-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IBA
GO:0000922 Component Spindle pole IDA 25466283
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 33686175
GO:0005737 Component Cytoplasm IDA 39032489
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616144 25928 ENSG00000177082
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P4I2
Protein name Integrator complex assembly factor WDR73 (WD repeat-containing protein 73)
Protein function Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489). Associates with INTS9 and INTS11 in the cytoplasm, stabilizing the INTS9-INTS11 heterodimer and blocking th
PDB 8R22
Family and domains
Tissue specificity 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 axo
Sequence
MDPGDDWLVESLRLYQDFYAFDLSGATRVLEWIDDKGVFVAGYESLKKNEILHLKLPLRL
SVKENKGLFPERDFKVRHGGFSDRSIFDLKHVPHTRLLVTSGLPGCYLQVWQVAEDSDVI
KAVSTIAVHEKEESLWPRVAVFSTLAPGVLHGARLRSLQVVDLESRKTTYTSDVSDSEEL
SSLQVLDADTFAFCCASGRLGLVDTRQKWAPLENRSPGPGSGGERWCAEVGSWGQGPGPS
IASLGSDGRLCLLDPRDLCHPVSSVQCPVSVPSPDPELLRVTWAPGLKNCLAISGFDGTV
QVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWHPCRPRTLLSA
TNDASLHVWDWVDLCAPR
Sequence length 378
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
113
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic rs2141846587 RCV001814556
Dyskinesia Pathogenic rs1596057578 RCV001003984
Dystonic disorder Pathogenic rs1596050386 RCV001003983
Galloway-Mowat syndrome 1 Likely pathogenic; Pathogenic rs1482196384, rs768820873, rs2141837067, rs727502863, rs727502864, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs763696297, rs371794750, rs1896724611
View all (5 more)
RCV005012024
RCV001849894
RCV002267792
RCV000150038
RCV000150039
RCV000190488
RCV000190489
RCV000190490
RCV000190491
RCV000190492
RCV000190493
RCV000785981
RCV005002994
RCV003142663
RCV003447728
RCV004595832
RCV000786039
RCV000989368
RCV000995911
RCV001332717
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs863223395 -
Acute myeloid leukemia Benign rs146472604 RCV005928527
Cervical cancer Conflicting classifications of pathogenicity rs201827208 RCV005916292
Galloway-Mowat syndrome Uncertain significance rs2505381086 RCV004556122
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 27001912
Basal Ganglia Diseases Associate 26123727
Brain Stem Neoplasms Associate 27001912
Cerebellar Diseases Associate 26123727, 27001912
Depression Postpartum Associate 25466283
Diabetes Mellitus Type 2 Associate 37033211
Diabetic Nephropathies Associate 37033211
Epilepsy Associate 27001912
Galloway Mowat syndrome Associate 25466283, 26070982, 26123727, 27001912, 28720660, 33686175, 36755238
Growth Disorders Associate 26123727