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WDR36 (WD repeat domain 36)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
134430
Gene nameGene Name - the full gene name approved by the HGNC.
WD repeat domain 36
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
WDR36
SynonymsGene synonyms aliases
GLC1G, TA-WDRP, TAWDRP, UTP21
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34661294 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs35629723 C>G,T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs116529882 G>A Likely-benign, pathogenic Coding sequence variant, missense variant
rs118204022 A>G Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020085 hsa-miR-361-5p Sequencing 20371350
MIRT041461 hsa-miR-193b-3p CLASH 23622248
MIRT1490147 hsa-miR-103a CLIP-seq
MIRT1490148 hsa-miR-106a CLIP-seq
MIRT1490149 hsa-miR-106b CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005654 Component Nucleoplasm TAS
GO:0005730 Component Nucleolus IDA
GO:0006364 Process RRNA processing IBA 21873635
GO:0006364 Process RRNA processing TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8NI36
Protein name WD repeat-containing protein 36 (T-cell activation WD repeat-containing protein) (TA-WDRP)
Protein function Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40
152 188
WD domain, G-beta repeat
Repeat
PF12894 ANAPC4_WD40
253 344
Anaphase-promoting complex subunit 4 WD40 domain
Repeat
PF00400 WD40
612 650
WD domain, G-beta repeat
Repeat
PF04192 Utp21
724 947
Utp21 specific WD40 associated putative domain
Domain
Sequence
MCCTEGSLRKRDSQRAPEAVLCLQLWQRTVPLDTLKGLGTCFPSGPELRGAGIAAAMERA
SERRTASALFAGFRALGLFSNDIPHVVRFSALKRRFYVTTCVGKSFHTYDVQKLSLVAVS
NSVPQDICCMAADGRLVFAAYGNVFSAFARNKEIVHTFKGHKAEIHFLQPFGDHIISVDT
DGILIIWH
IYSEEEYLQLTFDKSVFKISAILHPSTYLNKILLGSEQGSLQLWNVKSNKLL
YTFPGWKVGVTALQQAPAVDVVAIGLMSGQVIIHNIKFNETLMKFRQDWGPITSISFRTD
GHPVMAAGSPCGHIGLWDLEDKKLINQMRNAHSTAIAGLTFLHR
EPLLVTNGADNALRIW
IFDGPTGEGRLLRFRMGHSAPLTNIRYYGQNGQQILSASQDGTLQSFSTVHEKFNKSLGH
GLINKKRVKRKGLQNTMSVRLPPITKFAAEEARESDWDGIIACHQGKLSCSTWNYQKSTI
GAYFLKPKELKKDDITATAVDITSCGNFAVIGLSSGTVDVYNMQSGIHRGSFGKDQAHKG
SVRGVAVDGLNQLTVTTGSEGLLKFWNFKNKILIHSVSLSSSPNIMLLHRDSGILGLALD
DFSISVLDIETRKIVREFSGHQGQINDMAFSPDGRWLISAAMDCSIRTWDLPSGCLIDCF
LLDSAPLNVSMSPTGDFLATSHVDHLGIYLWSNISLYSVVSLRPLPADYVPSIVMLPGTC
QTQDVEVSEETVEPSDELIEYDSPEQLNEQLVTLSLLPESRWKNLLNLDVIKKKNKPKEP
PKVPKSAPFFIPTIPGLVPRYAAPEQNNDPQQSKVVNLGVLAQKSDFCLKLEEGLVNNKY
DTALNLLKESGPSGIETELRSLSPDCGGSIEVMQSFLKMIGMMLDRKRDFELAQAYLALF
LKLHLKMLPSEPVLLEEITNLSSQVEENWTHLQSLFNQSMCILNYLK
SALL
Sequence length 951
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.
 
KEGG
 
Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 19198610, 21907864
Glaucoma Glaucoma, Open-Angle, Glaucoma, Primary Open Angle, Glaucoma 1, Open Angle, G rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 21059646, 15677485, 18172102
Open angle glaucoma NON RARE IN EUROPE: Primary adult open-angle glaucoma, Secondary Open Angle Glaucoma rs28939688, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs137854858, rs201794655, rs750643216, rs200148764, rs139006752, rs1057519378, rs1553534421, rs774258585 21059646

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