Gene Gene information from NCBI Gene database.
Entrez ID 55759
Gene name WD repeat domain 12
Gene symbol WDR12
Synonyms (NCBI Gene)
YTM1
Chromosome 2
Chromosome location 2q33.2
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
miRNA miRNA information provided by mirtarbase database.
242
miRTarBase ID miRNA Experiments Reference
MIRT028635 hsa-miR-30a-5p Proteomics 18668040
MIRT041501 hsa-miR-193b-3p CLASH 23622248
MIRT707780 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT707781 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT707779 hsa-miR-1277-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0000463 Process Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16043514, 17353269
GO:0000466 Process Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000466 Process Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616620 14098 ENSG00000138442
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZL7
Protein name Ribosome biogenesis protein WDR12 (WD repeat-containing protein 12)
Protein function Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
PDB 6N31 , 6P0Q , 8FKY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08154 NLE 4 70 NLE (NUC135) domain Domain
PF00400 WD40 130 171 WD domain, G-beta repeat Repeat
PF00400 WD40 179 217 WD domain, G-beta repeat Repeat
PF00400 WD40 247 284 WD domain, G-beta repeat Repeat
PF00400 WD40 288 325 WD domain, G-beta repeat Repeat
PF00400 WD40 334 371 WD domain, G-beta repeat Repeat
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    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.).
17
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 39201500 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 31164008
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 25915632
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated Cardiomyopathy CTD_human_DG 25915632
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic Cardiomyopathy CTD_human_DG 25915632
★☆☆☆☆
Found in Text Mining only
Cerebral Small Vessel Diseases Cerebral microangiopathy Pubtator 31430377 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke GWASCAT_DG 24262325
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma Pubtator 34797290 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29658574, 39969382 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis CTD_human_DG 21378990
★★☆☆☆
Found in Text Mining + Unknown/Other Associations