Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55759
Gene name Gene Name - the full gene name approved by the HGNC.
WD repeat domain 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WDR12
Synonyms (NCBI Gene) Gene synonyms aliases
YTM1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 21873635
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 21873635
GO:0000466 Process Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16043514
GO:0005515 Function Protein binding IPI 16043514, 16738141, 17353269, 28514442, 30021884, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616620 14098 ENSG00000138442
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated, Cardiomyopathy, Familial Idiopathic rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
25915632
Coronary artery disease CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 23202125, 21378990, 29212778, 24262325, 28714975
Migraine Migraine Disorders rs794727411 27182965, 27322543
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
31164008
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 24262325, 21347282, 21378990 ClinVar
Mental depression Major Depressive Disorder 31164008 ClinVar
Myocardial infarction Myocardial Infarction 19198609, 25915632 ClinVar
Coronary Heart Disease Coronary Heart Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Pain Associate 39969382
Alzheimer Disease Associate 39201500
Cerebral Small Vessel Diseases Associate 31430377
Chondrosarcoma Associate 34797290
Colorectal Neoplasms Associate 29658574, 39969382
Coronary Artery Disease Associate 28710368, 35379196, 39201500
Coronary Artery Disease Autosomal Dominant 1 Associate 22216278
Neoplasms Associate 39969382
Ossification Heterotopic Associate 33391181
Short Bowel Syndrome Associate 39969382