Gene Gene information from NCBI Gene database.
Entrez ID 134430
Gene name WD repeat domain 36
Gene symbol WDR36
Synonyms (NCBI Gene)
GLC1GTA-WDRPTAWDRPUTP21
Chromosome 5
Chromosome location 5q22.1
Summary 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.
4
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.
425
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005730 Component Nucleolus IEA
GO:0006364 Process RRNA processing IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609669 30696 ENSG00000134987
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
173
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign; - rs184163934, rs58944115, rs564435826, rs148990528, rs552084607, rs79464885 RCV005917473
RCV005922368
RCV005925939
RCV005921199
RCV005956608
RCV005903345
Cervical cancer Benign; Likely benign rs201107788, rs58944115, rs62376783 RCV005920056
RCV005922372
RCV005927887
Cholangiocarcinoma Benign; Likely benign rs200029310, rs4530809, rs201107788, rs58944115, rs564435826, rs201180028 RCV005915819
RCV005916946
RCV005920060
RCV005922382
RCV005925942
RCV005869354
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs59359951, rs200029310, rs201107788, rs58944115 RCV005916818
RCV005915821
RCV005920062
RCV005922383
Associations from Text MiningDisease associations identified through Pubtator
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