Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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91833 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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WDR20 |
SynonymsGene synonyms aliases
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Bun107, DMR |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q32.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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
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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 |
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Sequence |
MATEGGGKEMNEIKTQFTTREGLYKLLPHSEYSRPNRVPFNSQGSNPVRVSFVNLNDQSG NGDRLCFNVGRELYFYIYKGVRKAADLSKPIDKRIYKGTQPTCHDFNHLTATAESVSLLV GFSAGQVQLIDPIKKETSKLFNEERLIDKSRVTCVKWVPGSESLFLVAHSSGNMYLYNVE HTCGTTAPHYQLLKQGESFAVHTCKSKSTRNPLLKWTVGEGALNEFAFSPDGKFLACVSQ DGFLRVFNFDSVELHGTMKSYFGGLLCVCWSPDGKYIVTGGEDDLVTVWSFVDCRVIARG HGHKSWVSVVAFDPYTTSVEEGDPMEFSGSDEDFQDLLHFGRDRANSTQSRLSKRNSTDS RPVSVTYRFGSVGQDTQLCLWDLTEDILFPHQPLSRARTHTNVMNATSPPAGSNGNSVTT PGNSVPPPLPRSNSLPHSAVSNAGSKSSVMDGAIASGVSKFATLSLHDRKERHHEKDHKR NHSMGHISSKSSDKLNLVTKTKTDPAKTLGTPLCPRMEDVPLLEPLICKKIAHERLTVLI FLEDCIVTACQEGFICTWGRPGKVVSFNP
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Nonmedullary thyroid carcinoma |
Nonmedullary Thyroid Carcinoma |
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28030816 |
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