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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CDC73
cell division cycle 73
Chromosome 1 Β· 1q31.2
NCBI Gene: 79577Ensembl: ENSG00000134371.16HGNC: HGNC:16783UniProt: Q6P1J9
268PubMed Papers
23Diseases
0Drugs
158Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II complex bindingprotein bindingnegative regulation of transcription by RNA polymerase IInegative regulation of G1/S transition of mitotic cell cycleParathyroid Gland Carcinomahyperparathyroidism 2 with jaw tumorsfamilial isolated hyperparathyroidismhyperparathyroidism
✦AI Summary

CDC73 encodes parafibromin, a tumor suppressor and core component of the PAF1 complex (PAF1C) that regulates transcription by RNA polymerase II. 1 The PAF1C facilitates transcriptional elongation and is involved in histone modifications, including H2B ubiquitination and H3K4 methylation, as well as mRNA 3' end processing. 1 CDC73 plays critical roles in transcriptional regulation of Hox and Wnt target genes and is essential for hematopoiesis. 1 In T-ALL, CDC73 intersects with Notch and ETS1 at chr1 to activate oncogenes while also promoting DNA repair and mitochondrial function gene expression programs. 2 Clinically, CDC73 mutations are the most significant molecular driver of parathyroid carcinoma, identified in up to 70% of cases, with approximately one-third being germline mutations. 3 4 CDC73 germline mutations cause hyperparathyroidism-jaw tumor syndrome (HJT), characterized by primary hyperparathyroidism in ~85% of carriers, with parathyroid carcinoma occurring in up to 15% of HJT cases compared to <1% in sporadic hyperparathyroidism. 5 6 Loss of parafibromin immunoreactivity serves as a diagnostic marker for CDC73-deficient parathyroid neoplasms. 1 CDC73 pathogenic variants also predispose to renal cancer. 7 Complete surgical resection remains the primary treatment for CDC73-associated parathyroid carcinoma, with 5-year survival rates of 60-93%.

Sources cited
1
CDC73/parafibromin is involved in transcriptional control, PAF1C component functions, histone modifications, and mRNA 3' end processing; parafibromin deficiency is a diagnostic marker for parathyroid neoplasms
PMID: 35175514
2
CDC73 mutation is pivotal in parathyroid carcinoma pathogenesis; en bloc resection is gold standard treatment; 5-year overall survival ranges from 60-93%
PMID: 36621911
3
CDC73 somatic mutations identified in up to 70% of parathyroid carcinoma cases; germline mutations occur in one-third; same gene involved in hyperparathyroidism-jaw tumor syndrome
PMID: 30551989
4
CDC73 gene mutations (causing parafibromin loss-of-function) are the primary genomic alteration in parathyroid carcinoma; CDC73 is found in up to 15% of hereditary hyperparathyroidism-jaw tumor syndrome cases
PMID: 30641523
5
CDC73 germline mutations cause hyperparathyroidism-jaw tumor syndrome; parathyroid carcinoma occurs in 15% of HJT cases; parafibromin immunoreactivity is heterogeneous in HJT tumors
PMID: 38396977
6
CDC73 interacts with Notch1 and ETS1 at chromatin to activate T-ALL oncogenes; CDC73 regulates DNA repair and mitochondrial function gene expression
PMID: 37616559
7
CDC73 pathogenic variants predispose to renal cancer
PMID: 40750496
Disease Associationsβ“˜23
Parathyroid Gland CarcinomaOpen Targets
0.79Strong
hyperparathyroidism 2 with jaw tumorsOpen Targets
0.78Strong
familial isolated hyperparathyroidismOpen Targets
0.74Strong
hyperparathyroidismOpen Targets
0.74Strong
Hyperparathyroidism-jaw tumor syndromeOpen Targets
0.69Moderate
hereditary neoplastic syndromeOpen Targets
0.55Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.55Moderate
parathyroid adenomaOpen Targets
0.53Moderate
endocrine neoplasmOpen Targets
0.46Moderate
familial primary hyperparathyroidismOpen Targets
0.46Moderate
malignant endocrine neoplasmOpen Targets
0.46Moderate
ossifying fibroma of the jawOpen Targets
0.42Moderate
hypertensionOpen Targets
0.41Moderate
gastric carcinomaOpen Targets
0.38Weak
colorectal adenocarcinomaOpen Targets
0.38Weak
lung carcinomaOpen Targets
0.37Weak
malignant tumor of parathyroid glandOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
Hyperparathyroidism 1UniProt
Hyperparathyroidism 2 with jaw tumorsUniProt
Parathyroid carcinomaUniProt
Pathogenic Variants158
NM_024529.5(CDC73):c.131+1G>APathogenic
Hyperparathyroidism 1|Parathyroid adenoma, somatic|not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors
β˜…β˜…β˜†β˜†2026
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)Pathogenic
Parathyroid carcinoma|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 126
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1;Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 222
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|not provided|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_024529.5(CDC73):c.510del (p.Arg171fs)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 2 with jaw tumors
β˜…β˜…β˜†β˜†2025β†’ Residue 76
NM_024529.5(CDC73):c.513-1G>ALikely pathogenic
Parathyroid carcinoma|Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1
β˜…β˜…β˜†β˜†2025
NM_024529.5(CDC73):c.96G>A (p.Trp32Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Parathyroid carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 32
NM_024529.5(CDC73):c.1030+2T>CLikely pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)Pathogenic
Parathyroid carcinoma|not provided|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma|CDC73-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 230
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)Pathogenic
Parathyroid carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 43
NM_024529.5(CDC73):c.240del (p.Glu81fs)Pathogenic
not provided|Parathyroid carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 338
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 234
NM_024529.5(CDC73):c.245del (p.Asn82fs)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 82
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)Pathogenic
not provided|Parathyroid carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1|Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma;Hyperparathyroidism 1
β˜…β˜…β˜†β˜†2025β†’ Residue 268
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)Pathogenic
Parathyroid carcinoma|Familial cancer of breast|Hyperparathyroidism 1|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)Pathogenic
Parathyroid carcinoma|Hyperparathyroidism 2 with jaw tumors|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 399
View on ClinVar β†—
Related Genes
CDK9Protein interaction100%MLLT1Protein interaction100%AFF1Protein interaction100%MLLT3Protein interaction100%ELLProtein interaction100%H2BC13Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
92%
Brain
71%
Ovary
53%
Lung
50%
Liver
30%
Gene Interaction Network
Click a node to explore
CDC73CDK9MLLT1AFF1MLLT3ELLH2BC13
PROTEIN STRUCTURE
Preparing viewer…
PDB5YDE Β· 1.02 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.42]
RankingsWhere CDC73 stands among ~20K protein-coding genes
  • #1,383of 20,598
    Most Researched268 Β· top 10%
  • #470of 5,498
    Most Pathogenic Variants158 Β· top 10%
  • #2,211of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedCDC73
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Overview of the 2022 WHO Classification of Parathyroid Tumors.
PMID: 35175514
Endocr Pathol Β· 2022
1.00
2
Diagnosis and management of parathyroid carcinoma: a state-of-the-art review.
PMID: 36621911
Endocr Relat Cancer Β· 2023
0.90
3
Parathyroid carcinoma.
PMID: 30551989
Best Pract Res Clin Endocrinol Metab Β· 2018
0.80
4
Parathyroid Carcinoma.
PMID: 30641523
Front Horm Res Β· 2019
0.70
5
Parathyroid carcinoma: molecular therapeutic targets.
PMID: 37160841
Endocrine Β· 2023
0.64