Gene Gene information from NCBI Gene database.
Entrez ID 23160
Gene name WD repeat domain 43
Gene symbol WDR43
Synonyms (NCBI Gene)
NET12UTP5
Chromosome 2
Chromosome location 2p23.2
miRNA miRNA information provided by mirtarbase database.
350
miRTarBase ID miRNA Experiments Reference
MIRT031487 hsa-miR-16-5p Proteomics 18668040
MIRT046118 hsa-miR-30b-5p CLASH 23622248
MIRT037019 hsa-miR-877-3p CLASH 23622248
MIRT1490569 hsa-miR-1185 CLIP-seq
MIRT1490570 hsa-miR-1207-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISS
GO:0000993 Function RNA polymerase II complex binding IEA
GO:0000993 Function RNA polymerase II complex binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616195 28945 ENSG00000163811
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15061
Protein name WD repeat-containing protein 43 (U3 small nucleolar RNA-associated protein 5 homolog)
Protein function Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU proces
PDB 7MQ8 , 7MQ9 , 7MQA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 115 154 WD domain, G-beta repeat Repeat
PF00400 WD40 157 194 WD domain, G-beta repeat Repeat
PF04003 Utp12 473 577 Dip2/Utp12 Family Family
Sequence
MAAGGGGSCDPLAPAGVPCAFSPHSQAYFALASTDGHLRVWETANNRLHQEYVPSAHLSG
TCTCLAWAPARLQAKESPQRKKRKSEAVGMSNQTDLLALGTAVGSILLYSTVKGELHSKL
ISGGHDNRVNCIQWHQDSGCLYSCSDDKHIVEWN
VQTCKVKCKWKGDNSSVSSLCISPDG
KMLLSAGRTIKLWV
LETKEVYRHFTGHATPVSSLMFTTIRPPNESQPFDGITGLYFLSGA
VHDRLLNVWQVRSENKEKSAVMSFTVTDEPVYIDLTLSENKEEPVKLAVVCRDGQVHLFE
HILNGYCKKPLTSNCTIQIATPGKGKKSTPKPIPILAAGFCSDKMSLLLVYGSWFQPTIE
RVALNSREPHMCLVRDISNCWAPKVETAITKVRTPVMNSEAKVLVPGIPGHHAAIKPAPP
QTEQVESKRKSGGNEVSIEERLGAMDIDTHKKGKEDLQTNSFPVLLTQGLESNDFEMLNK
VLQTRNVNLIKKTVLRMPLHTIIPLLQELTKRLQGHPNSAVLMVQWLKCVLTVHASYLST
LPDLVPQLGTLYQLMESRVKTFQKLSHLHGKLILLIT
QVTASEKTKGATSPGQKAKLVYE
EESSEEESDDEIADKDSEDNWDEDEEESESEKDEDVEEEDEDAEGKDEENGEDRDTASEK
ELNGDSDLDPENESEEE
Sequence length 677
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.).
14
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 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma GWASCAT_DG 27117709
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 27117709, 34803163 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29658574 Associate
★☆☆☆☆
Found in Text Mining only
Mandibulofacial Dysostosis Mandibulofacial Dysostosis BEFREE 24497835
★☆☆☆☆
Found in Text Mining only
Pulmonary Arterial Hypertension Pulmonary arterial hypertension Pubtator 38110868 Associate
★☆☆☆☆
Found in Text Mining only
Sepsis Sepsis Pubtator 39438952 Associate
★☆☆☆☆
Found in Text Mining only