Gene Symbol: HRPT2
Description: cell division cycle 73
Alias: C1orf28, FIHP, HPTJT, HRPT1, HRPT2, HYX, parafibromin, Paf1/RNA polymerase II complex component, cell division cycle 73 Paf1/RNA polymerase II complex component-like protein, cell division cycle 73, Paf1/RNA polymerase II complex component, homolog, cell division cycle protein 73 homolog, hyperparathyroidism 2 protein
Species: human
Products:     HRPT2

Top Publications

  1. Lin L, Czapiga M, Nini L, Zhang J, Simonds W. Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. Mol Cancer Res. 2007;5:183-93 pubmed
    b>Parafibromin is a tumor suppressor protein encoded by HRPT2, a gene recently implicated in the hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism...
  2. Carpten J, Robbins C, Villablanca A, Forsberg L, Presciuttini S, Bailey Wilson J, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002;32:676-80 pubmed
    ..evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in ..
  3. Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, et al. Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab. 2004;89:5583-91 pubmed
    We investigated the involvement of the HRPT2 gene by loss of heterozygosity analysis and direct sequencing in a kindred with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and three kindreds with familial isolated primary ..
  4. Panicker L, Zhang J, Dagur P, Gastinger M, Simonds W. Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. Endocr Relat Cancer. 2010;17:513-24 pubmed publisher
    ..that can result from germline inactivation of HRPT2/CDC73, a putative tumor suppressor gene that encodes parafibromin, a component of the transcriptional regulatory PAF1 complex with homology to the yeast protein Cdc73p...
  5. Rather M, Swamy S, Gopinath K, Kumar A. Transcriptional repression of tumor suppressor CDC73, encoding an RNA polymerase II interactor, by Wilms tumor 1 protein (WT1) promotes cell proliferation: implication for cancer therapeutics. J Biol Chem. 2014;289:968-76 pubmed publisher
    ..These observations indicated that WT1 functions as an oncogene by repressing the expression of CDC73 in OSCC. We suggest that targeting WT1 could be a therapeutic strategy for cancer, including OSCC. ..
  6. Starker L, Akerström T, Long W, Delgado Verdugo A, Donovan P, Udelsman R, et al. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer. 2012;3:44-51 pubmed publisher
    ..Familial primary hyperparathyroidism (FPHPT) may occur due to an underlying germ-line mutation in the MEN1, CASR, or HRPT2/CDC73 genes. The disease may be undiagnosed in the absence of a history suggestive of FHPT...
  7. Bradley K, Cavaco B, Bowl M, Harding B, Young A, Thakker R. Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. J Med Genet. 2005;42:e51 pubmed
    ..Translation of this mutant mRNA predicted the in-frame loss of 10 amino acids in the encoded protein, termed PARAFIBROMIN. Thus, these FIHP patients are utilising a ga-ag splice site pair, which until recently was considered to be ..
  8. Yart A, Gstaiger M, Wirbelauer C, Pecnik M, Anastasiou D, Hess D, et al. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol Cell Biol. 2005;25:5052-60 pubmed
    ..The cellular function of the HPRT2 gene product, parafibromin, has not been defined yet...
  9. Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella L, et al. Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene. PLoS ONE. 2013;8:e82292 pubmed publisher
    ..Inactivating mutations of the tumour suppressor CDC73/HRPT2 gene have been found in HPT-JT patients and also as genetic determinants of sporadic parathyroid carcinoma/..

More Information


  1. Zhao J, Yart A, Frigerio S, Perren A, Schraml P, Weisstanner C, et al. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. Oncogene. 2007;26:3440-9 pubmed
    Inactivation of the HRPT2 gene encoding parafibromin was recently linked to the familial hyperparathyroidism-jaw tumor syndrome. Patients with this syndrome carry an increased risk of parathyroid and renal tumors...
  2. Villablanca A, Calender A, Forsberg L, Hoog A, Cheng J, Petillo D, et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004;41:e32 pubmed
  3. Mosimann C, Hausmann G, Basler K. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo. Cell. 2006;125:327-41 pubmed
    ..We show that Drosophila Hyrax and its human ortholog, Parafibromin, components of the Polymerase-Associated Factor 1 (PAF1) complex, are required for nuclear transduction of the ..
  4. Krebs L, Shattuck T, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2005;90:5015-7 pubmed
    Mutations of HRPT2 are frequent in sporadic parathyroid carcinomas and central to their pathogenesis...
  5. Cavaco B, Guerra L, Bradley K, Carvalho D, Harding B, Oliveira A, et al. Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab. 2004;89:1747-52 pubmed
    ..2 and consists of 17 exons that encode a 531-amino acid protein, designated parafibromin. We recently identified six Roma families in Portugal with 56 members (11 affected and 45 asymptomatic), who ..
  6. Nordick K, Hoffman M, BETZ J, Jaehning J. Direct interactions between the Paf1 complex and a cleavage and polyadenylation factor are revealed by dissociation of Paf1 from RNA polymerase II. Eukaryot Cell. 2008;7:1158-67 pubmed publisher
    ..The lack of this connection helps to explain the defects in 3'-end formation observed in the absence of Paf1. ..
  7. Hahn M, Marsh D. Nucleolar localization of parafibromin is mediated by three nucleolar localization signals. FEBS Lett. 2007;581:5070-4 pubmed
    b>Parafibromin is a putative tumor suppressor encoded by HRPT2 and implicated in parathyroid tumorigenesis. We previously reported a functional bipartite nuclear localization signal (NLS) at residues 125-139...
  8. Kim J, Guermah M, Roeder R. The human PAF1 complex acts in chromatin transcription elongation both independently and cooperatively with SII/TFIIS. Cell. 2010;140:491-503 pubmed publisher
    ..Apart from a distinct PAF1C function, the present observations provide a molecular mechanism for the cooperative function of distinct transcription elongation factors in chromatin transcription. ..
  9. Hahn M, Marsh D. Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. Oncogene. 2005;24:6241-8 pubmed
    b>Parafibromin is a putative tumor suppressor encoded by HRPT2, mutations in which have been implicated in the familial tumor syndrome hyperparathyroidism jaw tumor syndrome (HPT-JT), and sporadic parathyroid carcinoma...
  10. Rather M, Nagashri M, Swamy S, Gopinath K, Kumar A. Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation: implications for cancer therapeutics. J Biol Chem. 2013;288:608-18 pubmed publisher
  11. Witteveen J, Hamdy N, Dekkers O, Kievit J, van Wezel T, Teh B, et al. Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma. Mod Pathol. 2011;24:688-97 pubmed publisher
    Parathyroid carcinoma is associated with mutations in the HRPT2/CDC73 gene and with decreased parafibromin and calcium-sensing receptor (CASR) expression, but in some cases establishing an unequivocal diagnosis remains a challenge...
  12. Shattuck T, Välimäki S, Obara T, Gaz R, Clark O, Shoback D, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 2003;349:1722-9 pubmed
    We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--..
  13. Newey P, Bowl M, Cranston T, Thakker R. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010;31:295-307 pubmed publisher
    ..responsible for HPT-JT, known as CDC73, was identified in 2002 and encodes a 531 amino acid protein known as parafibromin. Parafibromin is predominantly a nuclear protein that interacts directly with beta-catenin and also forms part ..
  14. Wang O, Wang C, Nie M, Cui Q, Guan H, Jiang Y, et al. Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas. PLoS ONE. 2012;7:e45567 pubmed publisher
    ..HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of gene mutations and detection of parafibromin immunoreactivity have been suggested as diagnostic instruments of PC in Whites...
  15. Aldred M, Talacko A, Savarirayan R, Murdolo V, Mills A, Radden B, et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:212-8 pubmed
    ..revealed a novel mutation in exon 1 of HRPT2 (nt 20AGGACG --> GGGAG), which is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation...
  16. Frank Raue K, Haag C, Schulze E, Keuser R, Raue F, Dralle H, et al. CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum. Eur J Endocrinol. 2011;165:477-83 pubmed publisher
    ..Disease-causing mutations have been localised in the tumour suppressor gene CDC73. There is limited information available on the mutations, and resulting phenotypes and long-term follow-up data are especially scarce...
  17. Cavaco B, Santos R, Felix A, Carvalho D, Lopes J, Domingues R, et al. Identification of de novo germline mutations in the HRPT2 gene in two apparently sporadic cases with challenging parathyroid tumor diagnoses. Endocr Pathol. 2011;22:44-52 pubmed publisher
    ..The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited...
  18. Juhlin C, Larsson C, Yakoleva T, Leibiger I, Leibiger B, Alimov A, et al. Loss of parafibromin expression in a subset of parathyroid adenomas. Endocr Relat Cancer. 2006;13:509-23 pubmed
    ..Its encoded protein parafibromin has tumour-suppressor properties that play an important role in tumour development in the parathyroids, jaws ..
  19. Simonds W, Robbins C, Agarwal S, Hendy G, Carpten J, Marx S. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2004;89:96-102 pubmed
    ..found to have a mutation in HRPT2 (679insAG); this mutation predicts premature truncation of its gene product, parafibromin, and thus its presumed inactivation...
  20. Woodard G, Lin L, Zhang J, Agarwal S, Marx S, Simonds W. Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Oncogene. 2005;24:1272-6 pubmed
    b>Parafibromin is the 531-amino-acid protein product encoded by HRPT2, a putative tumor suppressor gene recently implicated in the autosomal dominant hyperparathyroidism-jaw tumor familial cancer syndrome, sporadic parathyroid cancer, and a ..
  21. Siu W, Law C, Lam C, Mak C, Wong G, Ho A, et al. Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors. Fam Cancer. 2011;10:695-9 pubmed publisher
    ..Genetic analysis is reliable to confirm the underlying hereditary basis of hyperparathyroidism. By identification of mutations, the patient and the family members could benefit from regular surveillance for early detection of tumors. ..
  22. Hahn M, Howell V, Gill A, Clarkson A, Weaire Buchanan G, Robinson B, et al. CDC73/HRPT2 CpG island hypermethylation and mutation of 5'-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors. Endocr Relat Cancer. 2010;17:273-82 pubmed publisher
    ..In a number of HRPT2 mutant tumors however, expression of the encoded protein parafibromin is lost in the absence of a clear second event such as HRPT2 allelic loss or the presence of a second mutation ..
  23. Rozenblatt Rosen O, Nagaike T, FRANCIS J, Kaneko S, Glatt K, Hughes C, et al. The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors. Proc Natl Acad Sci U S A. 2009;106:755-60 pubmed publisher
    ..Our results suggest that Cdc73 facilitates association of 3' mRNA processing factors with actively-transcribed chromatin and support the importance of links between tumor suppression and mRNA maturation. ..
  24. Hobbs M, Rosen I, Jackson C. Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2. Am J Hum Genet. 2002;70:1376-7 pubmed
  25. Zhang C, Kong D, Tan M, Pappas D, Wang P, Chen J, et al. Parafibromin inhibits cancer cell growth and causes G1 phase arrest. Biochem Biophys Res Commun. 2006;350:17-24 pubmed
    ..type 2) tumor suppressor gene encodes a ubiquitously expressed 531 amino acid protein termed parafibromin. Inactivation of parafibromin predisposes one to the development of HPT-JT syndrome...
  26. Lin L, Zhang J, Panicker L, Simonds W. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. Proc Natl Acad Sci U S A. 2008;105:17420-5 pubmed publisher
    b>Parafibromin is a tumor suppressor protein encoded by HRPT2, a gene recently implicated in the hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism...
  27. Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, Chen J, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet. 2003;40:657-63 pubmed
    ..In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis...
  28. Juhlin C, Haglund F, Obara T, Arnold A, Larsson C, Höög A. Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours. Virchows Arch. 2011;459:47-53 pubmed publisher
    ..mutations underlie hereditary and sporadic forms of primary hyperparathyroidism (PHPT), and the encoded product parafibromin has been established as a marker for facilitating parathyroid tumour classification...
  29. Hewitt K, Sharma P, Samowitz W, Hobbs M. Aberrant methylation of the HRPT2 gene in parathyroid carcinoma. Ann Otol Rhinol Laryngol. 2007;116:928-33 pubmed
    ..We used a methylation-specific polymerase chain reaction (MS-PCR) technique to investigate whether hypermethylation is one mechanism of HRPT2 gene inactivation in parathyroid tumors.
  30. Rigbolt K, Prokhorova T, Akimov V, Henningsen J, Johansen P, Kratchmarova I, et al. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011;4:rs3 pubmed publisher
  31. Zhu B, Zheng Y, Pham A, Mandal S, Erdjument Bromage H, Tempst P, et al. Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. Mol Cell. 2005;20:601-11 pubmed
    ..In contrast, RNAi against the RNF20/40 complex or hPAF complex reduces H2B monoubiquitination, lowers methylation levels at H3 lysines 4 and 79, and represses HOX gene expression. ..
  32. Rozenblatt Rosen O, Hughes C, Nannepaga S, Shanmugam K, Copeland T, Guszczynski T, et al. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol. 2005;25:612-20 pubmed
    b>Parafibromin, the product of the HRPT2 (hyperparathyroidism-jaw tumor syndrome 2) tumor suppressor gene, is the human homologue of yeast Cdc73, part of the yeast RNA polymerase II/Paf1 complex known to be important for histone ..
  33. Szabo J, Heath B, Hill V, Jackson C, Zarbo R, Mallette L, et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 1995;56:944-50 pubmed
    ..endocrine neoplasia syndromes and appears to result from mutation of an endocrine tumor gene designated "HRPT2." We studied five HPT-JT families (59 persons, 20 affected); using PCR-based markers, we instituted a ..
  34. Sun W, Kuang X, Liu Y, Tian L, Yan X, Xu W. Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Sci Rep. 2017;7:15638 pubmed publisher
    CDC73/Parafibromin is a critical component of the Paf1 complex (PAF1C), which is involved in transcriptional elongation and histone modifications...
  35. Domingues P, Golebiowski F, Tatham M, Lopes A, Taggart A, Hay R, et al. Global Reprogramming of Host SUMOylation during Influenza Virus Infection. Cell Rep. 2015;13:1467-1480 pubmed publisher
    ..Mechanistic studies further uncovered a role for SUMOylation of the PAF1 complex component, parafibromin (CDC73), in potentiating antiviral gene expression...
  36. Wang O, Wang C, Shi J, Nie M, Xia W, Li M, et al. Expression of Ki-67, galectin-3, fragile histidine triad, and parafibromin in malignant and benign parathyroid tumors. Chin Med J (Engl). 2012;125:2895-901 pubmed
    ..aimed to investigate the differential expression of Ki-67, galectin-3, fragile histidine triad (FHIT) gene, and parafibromin in PC, parathyroid adenoma (PA), parathyroid hyperplasia (PH), and normal parathyroid (NP) tissues; then to ..
  37. El Lakis M, Nockel P, Gaitanidis A, Guan B, Agarwal S, Welch J, et al. Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism. J Am Coll Surg. 2018;226:933-938 pubmed publisher
  38. Ghemigian A, Ghemigian M, Popescu I, Vija L, Petrova E, Dumitru N, et al. Familial isolated primary hyperparathyroidism due to HRPT2 mutation. Hormones (Athens). 2013;12:454-60 pubmed
    ..are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyroidism-jaw tumor syndrome), calcium sensing receptor gene (familial hypocalciuric hypercalcemia)...
  39. Yu M, Yang W, Ni T, Tang Z, Nakadai T, Zhu J, et al. RNA polymerase II-associated factor 1 regulates the release and phosphorylation of paused RNA polymerase II. Science. 2015;350:1383-6 pubmed publisher
    ..These findings reveal cooperativity among P-TEFb, PAF1C, and CDK12 in pausing release and Pol II CTD phosphorylation. ..
  40. Wasserman J, Tomlinson G, Druker H, Kamihara J, Kohlmann W, Kratz C, et al. Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017;23:e123-e132 pubmed publisher
    ..i>Clin Cancer Res; 23(13); e123-e32. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series. ..
  41. Marx S, Lourenço D. Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. Horm Metab Res. 2017;49:805-815 pubmed publisher
    ..These differences underlie major differences in clinical expression...
  42. Redwin Dhas M, Karthiga K, Tatu J, Eugenia S. Hyper Parathyroidisim Jaw Tumor Syndrome: A Rare Condition of Incongruous Features. Ethiop J Health Sci. 2017;27:309-313 pubmed
    ..syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31...
  43. Walls G, Stevenson M, Lines K, Newey P, Reed A, Bowl M, et al. Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome. Oncogene. 2017;36:4025-4036 pubmed publisher
    ..2 and encodes a 531 amino acid protein, parafibromin. To facilitate in vivo studies of Cdc73 in tumourigenesis we generated conventional (Cdc73+/-) and ..
  44. Guarnieri V, Battista C, Muscarella L, Bisceglia M, de Martino D, Baorda F, et al. CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort. Cell Oncol (Dordr). 2012;35:411-22 pubmed publisher
    To determine if molecular and immunohistochemical (IHC) features of the HRPT2/CDC73 gene and its product, parafibromin, predict the natural history of parathyroid malignancy, particularly atypical adenoma, as seen in a single-centre ..
  45. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:222 pubmed
  46. Chaturvedi D, Inaba M, Scoggin S, Buszczak M. Drosophila CG2469 Encodes a Homolog of Human CTR9 and Is Essential for Development. G3 (Bethesda). 2016;6:3849-3857 pubmed publisher
    ..These data provide further evidence that the function of this Paf1 complex component is conserved across species. ..
  47. Kumari N, Chaudhary N, Pradhan R, Agarwal A, Krishnani N. Role of Histological Criteria and Immunohistochemical Markers in Predicting Risk of Malignancy in Parathyroid Neoplasms. Endocr Pathol. 2016;27:87-96 pubmed publisher
    ..IHC was performed for parafibromin, APC, galectin-3, PGP9.5 and Ki67...
  48. Ozolins A, Narbuts Z, Vanags A, Simtniece Z, Visnevska Z, Akca A, et al. Evaluation of malignant parathyroid tumours in two European cohorts of patients with sporadic primary hyperparathyroidism. Langenbecks Arch Surg. 2016;401:943-951 pubmed
    ..Immunohistochemistry (IHC) was performed to detect parafibromin, representing protein product of HRPT2 gene and proliferation marker Ki-67...
  49. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:224 pubmed
  50. Tominaga Y, Tsuzuki T, Matsuoka S, Uno N, Sato T, Shimabukuro S, et al. Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. World J Surg. 2008;32:815-21 pubmed publisher
    ..b>Parafibromin is a tumor suppressor protein encoded by HRPT2, and loss of nuclear expression of parafibromin was found in ..
  51. Vierimaa O, Villablanca A, Alimov A, Georgitsi M, Raitila A, Vahteristo P, et al. Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. J Endocrinol Invest. 2009;32:512-8 pubmed publisher
    ..A subset of patients carry germline mutations in genes such as MEN1 (multiple endocrine neoplasia type 1), HRPT2 (hyperparathyroidism 2), and CASR (calcium-sensing receptor) predisposing to syndromic forms of PHPT or familial ..
  52. Hattangady N, Wilson T, Miller B, Lerario A, Giordano T, Choksi P, et al. Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation. J Bone Miner Res. 2017;32:1640-1643 pubmed publisher
    ..In addition, the presented case exemplifies the importance to consider a hereditary condition in young patients with pHPT, particularly those with multi-gland involvement. © 2017 American Society for Bone and Mineral Research. ..
  53. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:223 pubmed
  54. De Mesquita Netto A, Gomez R, Diniz M, Fonseca Silva T, Campos K, De Marco L, et al. Assessing the contribution of HRPT2 to the pathogenesis of jaw fibrous dysplasia, ossifying fibroma, and osteosarcoma. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013;115:359-67 pubmed publisher
    ..Because HRPT2 (parafibromin) interacts with cyclin D1, we investigated cyclin D1 expression with the use of qPCR and IHC...
  55. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:223 pubmed
  56. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:221 pubmed
  57. Jo J, Chung T, Youn H, Yoo J. Cytoplasmic parafibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis. Nat Commun. 2014;5:5433 pubmed publisher
    The parafibromin/hCdc73 is a component of the PAFc, which controls RNA polymerase II-mediated general transcription...
  58. Iwata T, Mizusawa N, Taketani Y, Itakura M, Yoshimoto K. Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen. Oncogene. 2007;26:6176-83 pubmed
    b>Parafibromin (PF) is a 531-amino acid protein encoded by HRPT2, a putative tumor suppressor gene recently implicated in the autosomal-dominant hyperparathyroidism-jaw tumor familial cancer syndrome and sporadic parathyroid carcinoma...
  59. Koikawa K, Okada Y, Mori H, Kawaguchi M, Uchino S, Tanaka Y. A Case of Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing. Intern Med. 2017;: pubmed publisher
    ..Thus, genetic testing was performed.It showed a germline mutation in the HRPT2/CDC73 gene and confirmed the diagnosis of hyperparathyroidism-jaw tumor syndrome...
  60. Guarnieri V, Seaberg R, Kelly C, Jean Davidson M, Raphael S, Shuen A, et al. Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. BMC Med Genet. 2017;18:83 pubmed publisher
    ..By in vitro assay the 5'UTR insertion was shown to significantly impair the expression of the parafibromin protein...
  61. Muntean A, Tan J, Sitwala K, Huang Y, Bronstein J, Connelly J, et al. The PAF complex synergizes with MLL fusion proteins at HOX loci to promote leukemogenesis. Cancer Cell. 2010;17:609-21 pubmed publisher
    ..Deletions of MLL that abolish interactions with PAFc also eliminate MLL-AF9 mediated immortalization indicating an essential function for this interaction in leukemogenesis. ..
  62. Termos S, AlKabbani M, Ulinski T, Sanjad S, Kotobi H, Chalard F, et al. Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link?. Case Rep Nephrol. 2017;2017:9852912 pubmed publisher
    ..Further studies showed primary hyperparathyroidism and genetic analysis revealed a CDC73 mutation (initially HRPT2). We believe that association of UPJO and PHPT is a rare coincidence that can be linked...
  63. DeLellis R. Challenging lesions in the differential diagnosis of endocrine tumors: parathyroid carcinoma. Endocr Pathol. 2008;19:221-5 pubmed publisher
    ..Mutations of the HRPT2 gene, which encodes parafibromin, are responsible for the development of the hyperparathyroidism-jaw tumor syndrome and have also been ..
  64. Teh B, Howell V, Haven C, Kahnoski K, Khoo S, Petillo D, et al. Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome. Hum Genet. 2004;114:223 pubmed
  65. Kong J, Wang O, Nie M, Shi J, Hu Y, Jiang Y, et al. Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese. Clin Endocrinol (Oxf). 2014;81:222-30 pubmed publisher
    ..Immunohistochemistry was performed to analyse parafibromin expression in parathyroid tumours...
  66. Nagaike T, Logan C, Hotta I, Rozenblatt Rosen O, Meyerson M, Manley J. Transcriptional activators enhance polyadenylation of mRNA precursors. Mol Cell. 2011;41:409-18 pubmed publisher
    ..Our results indicate that a transcription activator can stimulate transcription-coupled 3' processing and does so via interaction with PAF1c. ..
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