WDR20 - WD repeat domain 20 Gene

Also Known as DMR; Bun107

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91833

About WDR20

Cytogenetic location: 14q32.31 Genomic coordinates (GRCh38): 14:102,139,423-102,224,839 (from NCBI)

This gene has 20 transcripts (splice variants), 285 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 5.3), thyroid (RPKM 3.2) and 25 other tissues.

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, Jun 2011]

WDR20 Products (36)

mRNA Protein Name
NM_001242414.2 NP_001229343.1 WD repeat-containing protein 20 isoform 4
NM_001242415.2 NP_001229344.1 WD repeat-containing protein 20 isoform 5
NM_001242416.2 NP_001229345.1 WD repeat-containing protein 20 isoform 6
NM_001242417.2 NP_001229346.1 WD repeat-containing protein 20 isoform 7
NM_001242418.2 NP_001229347.1 WD repeat-containing protein 20 isoform 8
NM_001320130.2 NP_001307059.1 WD repeat-containing protein 20 isoform 10
NM_001330228.3 NP_001317157.1 WD repeat-containing protein 20 isoform 11
NM_001353656.2 NP_001340585.1 WD repeat-containing protein 20 isoform 12
NM_001353657.2 NP_001340586.1 WD repeat-containing protein 20 isoform 13
NM_001353658.2 NP_001340587.1 WD repeat-containing protein 20 isoform 14
NM_001353659.2 NP_001340588.1 WD repeat-containing protein 20 isoform 15
NM_001353660.2 NP_001340589.1 WD repeat-containing protein 20 isoform 16
NM_001353661.2 NP_001340590.1 WD repeat-containing protein 20 isoform 17
NM_001353662.2 NP_001340591.1 WD repeat-containing protein 20 isoform 18
NM_001353663.2 NP_001340592.1 WD repeat-containing protein 20 isoform 18
NM_001353664.2 NP_001340593.1 WD repeat-containing protein 20 isoform 18
NM_001353665.2 NP_001340594.1 WD repeat-containing protein 20 isoform 18
NM_001353666.2 NP_001340595.1 WD repeat-containing protein 20 isoform 18
NM_001353667.2 NP_001340596.1 WD repeat-containing protein 20 isoform 19
NM_001353668.2 NP_001340597.1 WD repeat-containing protein 20 isoform 20
NM_001353669.2 NP_001340598.1 WD repeat-containing protein 20 isoform 20
NM_001353670.2 NP_001340599.1 WD repeat-containing protein 20 isoform 20
NM_001353671.2 NP_001340600.1 WD repeat-containing protein 20 isoform 20
NM_001353672.2 NP_001340601.1 WD repeat-containing protein 20 isoform 20
NM_001353673.2 NP_001340602.1 WD repeat-containing protein 20 isoform 20
NM_001353674.2 NP_001340603.1 WD repeat-containing protein 20 isoform 20
NM_001353675.2 NP_001340604.1 WD repeat-containing protein 20 isoform 21
NM_001353676.2 NP_001340605.1 WD repeat-containing protein 20 isoform 22
NM_001353677.2 NP_001340606.1 WD repeat-containing protein 20 isoform 22
NM_001353678.2 NP_001340607.1 WD repeat-containing protein 20 isoform 22
NM_001353679.2 NP_001340608.1 WD repeat-containing protein 20 isoform 23
NM_001353680.2 NP_001340609.1 WD repeat-containing protein 20 isoform 24
NM_001353681.2 NP_001340610.1 WD repeat-containing protein 20 isoform 4
NM_144574.4 NP_653175.2 WD repeat-containing protein 20 isoform 2
NM_181291.3 NP_851808.1 WD repeat-containing protein 20 isoform 1
NM_181308.3 NP_851825.1 WD repeat-containing protein 20 isoform 3
Molecular Function GO Annotation Evidence References Source
enables deubiquitinase activator activity IDA
IDA: Inferred from direct assay
20147737 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19615732 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
30466959 GOA
located in nucleus IDA
IDA: Inferred from direct assay
30466959 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR20 Protein Structure

WD40

WD40: WD domain, G-beta repeat (215 - 248)

WD40

WD40: WD domain, G-beta repeat (265 - 290)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 569 a.a.
Protein Preferred Names Protein Names

WD repeat-containing protein 20

WDR20 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WDR20 Q8TBZ3 USP12 Homo sapiens O75317 19615732
Intra
WDR20 Q8TBZ3 USP12 Homo sapiens O75317 33961781
Intra
WDR20 Q8TBZ3 USP46 Homo sapiens P62068 33961781
Intra
WDR20 Q8TBZ3 DAPP1 Homo sapiens Q9UN19 25814554
Cross: Cross-species interaction Intra: Intraspecies interaction

WDR20 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810088 WDR20 Antibody (YA9432) WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA human, mouse, rat

Related Diseases

Diseases Alias
Temple Syndrome
  • Uniparental Disomy, Maternal, Chromosome 14

  • Temple Syndrome Due To Paternal 14q32.2 Microdeletion

  • Paternal Del(14)(Q32.2)

  • Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

  • Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

  • Upd(14)Mat

Kagami-Ogata Syndrome
  • Paternal Uniparental Disomy Of Chromosome 14

  • Uniparental Disomy, Paternal, Chromosome 14

  • Kos

  • Mca Due To 14q32.2 Maternally Expressed Gene Defect

  • Paternal Uniparental Disomy 14

  • Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

  • Maternal Del(14)(Q32.2)

  • Maternal Monosomy 14q32.2

  • Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

  • Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

  • Upd(14)Pat

Silver-Russell Syndrome 1
  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome

Transient Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Transient Neonatal

  • Tndm

  • Chromosome 6-Associated Transient Diabetes Mellitus

  • Dmtn

  • Diabetes Mellitus, 6q24-Related Transient Neonatal

  • Tndm1

  • Neonatal Diabetes Mellitus, Transient

  • Tndm -[Transient Neonatal Diabetes Mellitus]

Osteogenesis Imperfecta, Type Iii
  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Polyhydramnios
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta WDR20 VGNC VGNC:79196
Felis catus WDR20 VGNC VGNC:67020
Rattus norvegicus WDR20 RGD RGD:1306499
Bos taurus WDR20 VGNC VGNC:50061
Canis familiaris WDR20 VGNC VGNC:49741
Mus musculus WDR20 MGD MGI:1916891
Others WDR20 NCBI