Gene Gene information from NCBI Gene database.
Entrez ID 79577
Gene name Cell division cycle 73
Gene symbol CDC73
Synonyms (NCBI Gene)
C1orf28FIHPHPTJTHRPT1HRPT2HYX
Chromosome 1
Chromosome location 1q31.2
Summary This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone me
SNPs SNP information provided by dbSNP.
20
SNP ID Visualize variation Clinical significance Consequence
rs80356649 ->AG Pathogenic Frameshift variant, coding sequence variant
rs80356650 GT>- Pathogenic Frameshift variant, coding sequence variant
rs587776559 G>A Pathogenic Splice acceptor variant
rs760591174 AGAG>-,AGAGAG Pathogenic Frameshift variant, coding sequence variant
rs770439843 C>G,T Pathogenic Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
497
miRTarBase ID miRNA Experiments Reference
MIRT020706 hsa-miR-155-5p Proteomics 18668040
MIRT048545 hsa-miR-100-5p CLASH 23622248
MIRT046249 hsa-miR-23b-3p CLASH 23622248
MIRT061173 hsa-miR-495-3p HITS-CLIP 23313552
MIRT061176 hsa-miR-5688 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
WT1 Repression 24257751
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 18987311
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000993 Function RNA polymerase II complex binding IBA
GO:0000993 Function RNA polymerase II complex binding IDA 15923622
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607393 16783 ENSG00000134371
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1J9
Protein name Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
Protein function Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has mult
PDB 5YDE , 5YDF , 6TED , 7OOP , 7OPC , 7OPD , 7UNC , 7UND , 8A3Y , 9EGX , 9EGY , 9EGZ , 9EH0 , 9EH2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16050 CDC73_N 1 297 Paf1 complex subunit CDC73 N-terminal Family
PF05179 CDC73_C 356 521 RNA pol II accessory factor, Cdc73 family, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Found in adrenal and parathyroid glands, kidney and heart. {ECO:0000269|PubMed:15580289}.
Sequence
Sequence length 531
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of RNA Pol II elongation complex
Formation of the beta-catenin:TCF transactivating complex
Hedgehog 'on' state
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2521
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDC73-related disorder Pathogenic rs760591174 RCV004529412
Cystic parathyroid adenoma Pathogenic rs587776557 RCV000003432
Familial cancer of breast Pathogenic rs1558280170 RCV001310104
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs2103121721, rs2103130589, rs1677688362, rs2103123828, rs2103178097, rs2102058252, rs2527493922, rs2527317468, rs2527341649, rs2527289344, rs121434262, rs587776558, rs2527500780, rs587776559, rs2103117916
View all (17 more)
RCV002329408
RCV002421192
RCV004946930
RCV002334977
RCV003164059
RCV002332111
RCV002364426
RCV002328620
RCV002449930
RCV002405646
RCV002426483
RCV002381237
RCV002383692
RCV002457907
RCV002435353
RCV002365215
RCV003171454
RCV004021055
RCV003288383
RCV003288386
RCV003338970
RCV003338972
RCV003341621
RCV004364913
RCV004517607
RCV005532653
RCV002350233
RCV002458429
RCV002363129
RCV001015315
RCV005306243
RCV004601428
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs191600804 RCV005891562
Cholangiocarcinoma Benign rs11583414 RCV005888608
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs11583414 RCV005888609
Colon adenocarcinoma - rs2102058499 RCV005922648
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 37339334
Adenoma Associate 16995822, 23029479, 24340015, 24823466
Adenoma Inhibit 18080135, 26658808
Adenoma Oxyphilic Stimulate 23361235
Albuminuria Associate 30547231
Aortic Aneurysm Thoracic Associate 24823466
Bone Diseases Associate 37807045
Breast Neoplasms Associate 26832176, 35551175
Carcinogenesis Associate 12960210, 17923126, 23361235, 23435613, 32780442, 36611251, 37121965
Carcinoma Associate 30452964, 36153594