Gene Gene information from NCBI Gene database.
Entrez ID 91833
Gene name WD repeat domain 20
Gene symbol WDR20
Synonyms (NCBI Gene)
Bun107DMR
Chromosome 14
Chromosome location 14q32.31
Summary This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq,
miRNA miRNA information provided by mirtarbase database.
280
miRTarBase ID miRNA Experiments Reference
MIRT697672 hsa-miR-5586-3p HITS-CLIP 23313552
MIRT697671 hsa-miR-4537 HITS-CLIP 23313552
MIRT069290 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT069291 hsa-miR-19b-3p HITS-CLIP 22473208
MIRT697672 hsa-miR-5586-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19615732, 20147737, 25814554, 27373336, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IDA 30466959, 33844468
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IDA 30466959, 33844468
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617741 19667 ENSG00000140153
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBZ3
Protein name WD repeat-containing protein 20 (Protein DMR)
Protein function Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12 (PubMed:20147737, PubMed:27373336). Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic cen
PDB 5K19 , 5K1C , 6JLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 210 248 WD domain, G-beta repeat Repeat
PF00400 WD40 253 290 WD domain, G-beta repeat Repeat
Sequence
MATEGGGKEMNEIKTQFTTREGLYKLLPHSEYSRPNRVPFNSQGSNPVRVSFVNLNDQSG
NGDRLCFNVGRELYFYIYKGVRKAADLSKPIDKRIYKGTQPTCHDFNHLTATAESVSLLV
GFSAGQVQLIDPIKKETSKLFNEERLIDKSRVTCVKWVPGSESLFLVAHSSGNMYLYNVE
HTCGTTAPHYQLLKQGESFAVHTCKSKSTRNPLLKWTVGEGALNEFAFSPDGKFLACVSQ
DGFLRVFN
FDSVELHGTMKSYFGGLLCVCWSPDGKYIVTGGEDDLVTVWSFVDCRVIARG
HGHKSWVSVVAFDPYTTSVEEGDPMEFSGSDEDFQDLLHFGRDRANSTQSRLSKRNSTDS
RPVSVTYRFGSVGQDTQLCLWDLTEDILFPHQPLSRARTHTNVMNATSPPAGSNGNSVTT
PGNSVPPPLPRSNSLPHSAVSNAGSKSSVMDGAIASGVSKFATLSLHDRKERHHEKDHKR
NHSMGHISSKSSDKLNLVTKTKTDPAKTLGTPLCPRMEDVPLLEPLICKKIAHERLTVLI
FLEDCIVTACQEGFICTWGRPGKVVSFNP
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 29685964
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia BEFREE 24015185
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31300640
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29685964
★☆☆☆☆
Found in Text Mining only
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome BEFREE 12949703, 16575194, 17700627, 22577095, 27480579, 30165906
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26683811, 27587709
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 16391843
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26790128 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31271297
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31271297
★☆☆☆☆
Found in Text Mining only