cell division cycle 73
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Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEndocrine neoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial hyperparathyroidism or hypocalciuric hypercalcaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited parathyroid cancer
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMultiple endocrine tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedParathyroid Cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+1 more panels — install the extension to see the full list inline on any page.
parathyroid gland carcinoma
hyperparathyroidism 2 with jaw tumors
familial isolated hyperparathyroidism
Hyperparathyroidism-jaw tumor syndrome
hyperparathyroidism
hereditary neoplastic syndrome
Inherited cancer-predisposing syndrome
malignant endocrine neoplasm
familial primary hyperparathyroidism
parathyroid gland adenoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Parafibromin
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 multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors
Curated MONDO disease pages that list CDC73 among their top associated genes.
CDC73 · Q6P1J9
Mean pLDDT
73.3/ 100
Confident
531 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
