CDC73 Chromosome 1
Cell division cycle 73
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What This Gene Does
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 methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
"Paf1/RNA polymerase II complex |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q31.2
Ensembl
ENSG00000134371
Associated Conditions (19)
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
CDC73-related disorder
Ovarian cancer
Endocrine neoplasia
Ovarian serous cystadenocarcinoma
Hyperparathyroidism
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Multiple endocrine neoplasia
type 1
Ossifying fibroma of the jaw
Inborn genetic diseases
Familial cancer of breast
Cystic parathyroid adenoma
Parathyroid adenoma
somatic
Parathyroid gland adenoma
Key Variants
RS1001095861
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
Health Risk
RS1018448425
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1
Health Risk
RS1060500014
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
Health Risk
RS1269877061
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, CDC73-related disorder
Health Risk
RS1344533583
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 1
Health Risk
RS138503809
Conflicting classifications of pathogenicity
Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma
Health Risk
RS143149579
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors
Health Risk
RS1431566505
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
Health Risk
RS145694828
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1
Health Risk
RS146571552
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1487870537
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
Health Risk
RS149875598
Conflicting classifications of pathogenicity
Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors
Health Risk
All Variants (176)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1001095861 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS1018448425 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS1060500014 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS1269877061 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, CDC73-related disorder |
| RS1344533583 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 1 |
| RS138503809 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma |
| RS143149579 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors |
| RS1431566505 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS145694828 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS146571552 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS1487870537 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS149875598 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors |
| RS150365980 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 1 |
| RS150894778 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma |
| RS1572139792 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors |
| RS1572142522 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS1572146630 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS1675912024 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Parathyroid carcinoma |
| RS1676130958 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS1677131770 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors |
| RS1678015232 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS188778681 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS202209013 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors |
| RS2103117757 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS2527281543 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS2527317342 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 1, Parathyroid carcinoma, Hyperparathyroidism 1 |
| RS2527440067 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS2527500635 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Parathyroid carcinoma, Hereditary cancer-predisposing syndrome |
| RS368442389 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 2 with jaw tumors |
| RS369542555 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS372567546 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS545666726 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors, Hereditary cancer-predisposing syndrome |
| RS557303948 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS587778167 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS746118697 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS746972930 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS748667010 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1, Parathyroid carcinoma |
| RS752298916 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma, Hyperparathyroidism 1 |
| RS752383339 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS754070093 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS757006970 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS757366134 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors |
| RS759222387 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS761968225 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS768713729 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma, Hyperparathyroidism 1 |
| RS769052041 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |
| RS769784756 | Health Risk | Conflicting classifications of pathogenicity | Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 1, Parathyroid carcinoma |
| RS770544416 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Parathyroid carcinoma |
| RS774536123 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hyperparathyroidism 1, Hereditary cancer-predisposing syndrome |
| RS776519655 | Health Risk | Conflicting classifications of pathogenicity | Parathyroid carcinoma, Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1 |