Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
134430
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 36
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR36
Synonyms (NCBI Gene) Gene synonyms aliases
GLC1G, TA-WDRP, TAWDRP, UTP21
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GLC1G
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.1
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609669 30696 ENSG00000134987
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
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. In ocular tissues, strong expression in iris, sclera, ciliary muscle, ciliary body, retina and optic nerve. {ECO:0000269|PubMed:15677485}.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
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
View all (29 more)
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, rs1553534421, rs774258585 21059646
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 19198610, 21907864 ClinVar, GWAS
Eczema Eczema GWAS
Eosinophilia Eosinophilia GWAS
Allergic Sensitization Allergic Sensitization GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 22694930, 26119467
Cataract Associate 27307692
Color Vision Defects Associate 34681019
Coronary Disease Associate 36459010
Diabetes Mellitus Associate 25669751
Eosinophilic Esophagitis Associate 25407941, 26119467
Eye Diseases Associate 34681019
Glaucoma Associate 16518310, 17563717, 18172102, 21528004, 21850170, 21931130, 23599335, 31367175, 38241218
Glaucoma 1 Open Angle A Associate 16518310
Glaucoma 3 Primary Congenital A Associate 31367175