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CDC73 (cell division cycle 73)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79577
Gene nameGene Name - the full gene name approved by the HGNC.
Cell division cycle 73
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CDC73
SynonymsGene synonyms aliases
C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
WT1 Repression 24257751
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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 21873635
GO:0000993 Function RNA polymerase II complex binding IDA 15923622
GO:0001558 Process Regulation of cell growth IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 531
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Chondrocalcinosis Calcium pyrophosphate deposition disease rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Hypercalcemia Hypercalcemia rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hyperparathyroidism Hyperparathyroidism, Hyperparathyroidism, Primary, HYPERPARATHYROIDISM 1, Familial Isolated Hyperparathyroidism rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170 12960210, 12434154, 16487440, 15632063, 28740527, 18755853, 15531515
Nephroblastoma Nephroblastoma rs1553551874, rs1555913934, rs769116796
Unknown
Disease name Disease term dbSNP ID References
Cortical adenoma of kidney Cortical adenoma of kidney
Dysphagia Deglutition Disorders
Endocrine gland cancer Carcinoma of Endocrine Gland
Endometriosis Endometriosis rs1800629, rs1143634 28333195

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