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WDR20 (WD repeat domain 20)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91833
Gene nameGene Name - the full gene name approved by the HGNC.
WD repeat domain 20
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
WDR20
SynonymsGene synonyms aliases
Bun107, DMR
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.31
SummarySummary of gene provided in NCBI Entrez Gene.
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,
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19615732, 20147737, 25814554, 27373336, 32296183
GO:0005654 Component Nucleoplasm TAS
GO:0016579 Process Protein deubiquitination TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Ub-specific processing proteases
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30940143
Papillary thyroid carcinoma Papillary thyroid carcinoma rs751409106 28030816
Thyroid cancer Familial Nonmedullary Thyroid Cancer rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342 28030816
Unknown
Disease name Disease term dbSNP ID References
Nonmedullary thyroid carcinoma Nonmedullary Thyroid Carcinoma 28030816

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