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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign; Benign; - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma CTD_human_DG 19198610
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASDB_DG 21907864
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 22694930, 26119467 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 26119467
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract Cataract Pubtator 27307692 Associate
★☆☆☆☆
Found in Text Mining only
Color Vision Defects Color vision deficiency Pubtator 34681019 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 36459010 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 25669751
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 25669751 Associate
★☆☆☆☆
Found in Text Mining only
Eosinophilia Eosinophilia BEFREE 19860791
★☆☆☆☆
Found in Text Mining only