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-trans... See more...

Aliases for CDC73 Gene

Aliases for CDC73 Gene

  • Cell Division Cycle 73 2 3 5
  • Parafibromin 2 3 4
  • Paf1/RNA Polymerase II Complex Component 2 3
  • Cell Division Cycle Protein 73 Homolog 3 4
  • Familial Isolated Hyperparathyroidism 2 3
  • Hyperparathyroidism 2 Protein 3 4
  • C1orf28 3 4
  • HRPT2 3 4
  • FIHP 2 3
  • Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog (S. Cerevisiae) 2
  • Cell Division Cycle 73 Paf1/RNA Polymerase II Complex Component-Like Protein 3
  • Cell Division Cycle 73, Paf1/RNA Polymerase II Complex Component, Homolog 3
  • Hyperparathyroidism 2 (With Jaw Tumor) 2
  • Chromosome 1 Open Reading Frame 28 2
  • Hyperparathyroidism 1 2
  • HPTJT 3
  • HRPT1 3
  • CDC73 5
  • HYX 3

External Ids for CDC73 Gene

Previous HGNC Symbols for CDC73 Gene

  • C1orf28
  • HRPT2
  • HRPT1

Previous GeneCards Identifiers for CDC73 Gene

  • GC01P189823
  • GC01P191357
  • GC01P193090
  • GC01P164327

Summaries for CDC73 Gene

Entrez Gene Summary for CDC73 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 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]

GeneCards Summary for CDC73 Gene

CDC73 (Cell Division Cycle 73) is a Protein Coding gene. Diseases associated with CDC73 include Hyperparathyroidism 1 and Hyperparathyroidism 2 With Jaw Tumors. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include RNA polymerase II complex binding.

UniProtKB/Swiss-Prot Summary for CDC73 Gene

  • 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.

Gene Wiki entry for CDC73 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC73 Gene

Genomics for CDC73 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC73 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J193120 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 803 4.4 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 CDC73 B3GALT2 LOC101929160 HSALNG0009325 MN309030
GH01J193183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 +64.6 64617 9.2 ZNF654 ATF2 CTCF TRIM22 MAFF RAD21 RFX5 SMC3 ZNF316 NFE2 B3GALT2 CDC73 MIR1278 UCHL5 piR-34822-023
GH01J192805 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 -312.7 -312707 6.7 BCLAF1 SP1 ZNF654 ZNF600 ZNF580 ATF2 KLF9 POLR2A CEBPA ATF3 RGS2 HSALNG0009293 lnc-UCHL5-10 CDC73 RGS1 RO60 LOC105371668 ENSG00000285280
GH01J192580 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 10 -541.4 -541359 0.3 BCLAF1 ZNF207 ZNF654 POLR2A BCL11A ZNF592 TRIM22 CTCF ELF1 RAD21 lnc-UCHL5-5 RGS1 ENSG00000226723 RO60 CDC73 RGS2 LOC105371664 RGS13 ENSG00000285280
GH01J193069 Enhancer 0.9 ENCODE dbSUPER 11.6 -51.2 -51245 1.8 ZNF600 IKZF1 ZNF592 NFIC ZIC2 FEZF1 CTCF NR2C1 TAF9B EBF1 CDC73 GLRX2 MIR1278 UCHL5 RO60 AB372581
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC73 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC73

Top Transcription factor binding sites by QIAGEN in the CDC73 gene promoter:
  • AML1a
  • E47
  • FOXO1
  • FOXO1a
  • GATA-1
  • ITF-2
  • NF-1
  • NF-1/L
  • Sox9
  • Tal-1beta

Genomic Locations for CDC73 Gene

Latest Assembly
chr1:193,121,983-193,254,815
(GRCh38/hg38)
Size:
132,833 bases
Orientation:
Plus strand

Previous Assembly
chr1:193,091,161-193,223,945
(GRCh37/hg19 by Entrez Gene)
Size:
132,785 bases
Orientation:
Plus strand

chr1:193,091,147-193,223,031
(GRCh37/hg19 by Ensembl)
Size:
131,885 bases
Orientation:
Plus strand

Genomic View for CDC73 Gene

Genes around CDC73 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC73 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC73 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC73 Gene

Proteins for CDC73 Gene

  • Protein details for CDC73 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1J9-CDC73_HUMAN
    Recommended name:
    Parafibromin
    Protein Accession:
    Q6P1J9
    Secondary Accessions:
    • A6NLZ8
    • B2RBR2
    • Q6PK51
    • Q96A07
    • Q9H245
    • Q9H5L7

    Protein attributes for CDC73 Gene

    Size:
    531 amino acids
    Molecular mass:
    60577 Da
    Quaternary structure:
    • Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61 (PubMed:19952111, PubMed:20178742). The PAF1 complex interacts with PHF5A. Within the PAF1 complex interacts directly with PHF5A (By similarity). Interacts with POLR2A, CPSF1, CPSF4, CSTF2, KMT2A/MLL1 and CTNNB1 (PubMed:15632063, PubMed:15923622, PubMed:16630820, PubMed:19136632, PubMed:20541477). Interacts with a Set1-like complex that has histone methyltransferase activity and methylates histone H3 (PubMed:15632063). Found in a complex with BCL9L or BCL9, CDC73, CTNNB1 and PYGO1 indicative for the participation in a nuclear Wnt signaling complex (PubMed:17113272). Interacts with PTPN11 (PubMed:26742426). Interacts with SETD5 (By similarity).
    • (Microbial infection) The PAF1 complex interacts with Zika virus French Polynesia 10087PF/2013 non-structural protein 5/NS5 (PubMed:30550790). The interaction with viral NS5 proteins may reduce the antiviral immune response by inhibiting the recruitment of the PAF1 complex to interferon-stimulated genes, thus preventing their transcription (PubMed:30550790).
    • (Microbial infection) The PAF1 complex interacts with Dengue virus DENV2 16681 non-structural protein 5/NS5 (PubMed:30550790). The PAF1 complex interacts with Dengue virus DENV4 Dominica/814669/1981 non-structural protein 5/NS5 (PubMed:30550790). The interaction with viral NS5 proteins may reduce the antiviral immune response by inhibiting the recruitment of the PAF1 complex to interferon-stimulated genes, thus preventing their transcription (PubMed:30550790).
    SequenceCaution:
    • Sequence=AAH07325.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 300.; Evidence={ECO:0000305}; Sequence=BAB15608.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDC73 Gene

neXtProt entry for CDC73 Gene

Post-translational modifications for CDC73 Gene

  • Phosphorylated. Dephosphorylated by PTPN11.
  • Ubiquitination at Lys209, Lys247, and Lys257
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC73 Gene

No data available for DME Specific Peptides for CDC73 Gene

Domains & Families for CDC73 Gene

Gene Families for CDC73 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CDC73 Gene

Suggested Antigen Peptide Sequences for CDC73 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57893, highly similar to Parafibromin (B4DV47_HUMAN)
  • Hyperparathyroidism 2 protein (CDC73_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P1J9

UniProtKB/Swiss-Prot:

CDC73_HUMAN :
  • Belongs to the CDC73 family.
Family:
  • Belongs to the CDC73 family.
genes like me logo Genes that share domains with CDC73: view

Function for CDC73 Gene

Molecular function for CDC73 Gene

UniProtKB/Swiss-Prot 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 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.

Phenotypes From GWAS Catalog for CDC73 Gene

Gene Ontology (GO) - Molecular Function for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II complex binding IBA,IDA 15923622
GO:0005515 protein binding IPI 15923622
genes like me logo Genes that share ontologies with CDC73: view
genes like me logo Genes that share phenotypes with CDC73: view

Human Phenotype Ontology for CDC73 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDC73 Gene

MGI Knock Outs for CDC73:

miRNA for CDC73 Gene

miRTarBase miRNAs that target CDC73

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC73

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDC73 Gene

Localization for CDC73 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC73 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC73 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region HDA 19135898
GO:0005634 nucleus IEA,IDA 15923622
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
GO:0016593 Cdc73/Paf1 complex IEA,IDA 16307923
genes like me logo Genes that share ontologies with CDC73: view

Pathways & Interactions for CDC73 Gene

genes like me logo Genes that share pathways with CDC73: view

SIGNOR curated interactions for CDC73 Gene

Activates:

Gene Ontology (GO) - Biological Process for CDC73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IMP 18987311
GO:0001558 regulation of cell growth IEA --
GO:0001711 endodermal cell fate commitment IEA,ISS --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS --
genes like me logo Genes that share ontologies with CDC73: view

Drugs & Compounds for CDC73 Gene

No Compound Related Data Available

Transcripts for CDC73 Gene

mRNA/cDNA for CDC73 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC73

Alternative Splicing Database (ASD) splice patterns (SP) for CDC73 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b
SP1: - -
SP2:
SP3: - - - -
SP4: -

Relevant External Links for CDC73 Gene

GeneLoc Exon Structure for
CDC73

Expression for CDC73 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC73 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDC73 Gene

This gene is overexpressed in Lung (24.8) and Peripheral blood mononuclear cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC73 Gene



Protein tissue co-expression partners for CDC73 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC73

SOURCE GeneReport for Unigene cluster for CDC73 Gene:

Hs.378996

mRNA Expression by UniProt/SwissProt for CDC73 Gene:

Q6P1J9-CDC73_HUMAN
Tissue specificity: Found in adrenal and parathyroid glands, kidney and heart.

Evidence on tissue expression from TISSUES for CDC73 Gene

  • Eye(4.3)
  • Thyroid gland(3.1)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Intestine(2.4)
  • Bone(2.3)
  • Liver(2.3)
  • Skin(2.3)
  • Heart(2.2)
  • Muscle(2.1)
  • Lung(2.1)
  • Lymph node(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC73 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CDC73: view

No data available for mRNA differential expression in normal tissues for CDC73 Gene

Orthologs for CDC73 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC73 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia HRPT2 30
  • 100 (a)
OneToOne
CDC73 29
  • 94.92 (n)
Chimpanzee
(Pan troglodytes)
Mammalia CDC73 29 30
  • 99.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 99 (a)
OneToMany
-- 30
  • 94 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 92 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CDC73 29 30
  • 92.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdc73 29 16 30
  • 92.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc73 29
  • 92.4 (n)
Chicken
(Gallus gallus)
Aves CDC73 29 30
  • 85.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 93 (a)
OneToMany
-- 30
  • 93 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdc73 29
  • 80.48 (n)
Str.6253 29
African clawed frog
(Xenopus laevis)
Amphibia MGC53995 29
Zebrafish
(Danio rerio)
Actinopterygii cdc73 29 30
  • 76.17 (n)
OneToOne
zgc63956 29
Fruit Fly
(Drosophila melanogaster)
Insecta hyx 29 30
  • 59.79 (n)
OneToMany
CG6220 30
  • 31 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008885 29
  • 57.89 (n)
Worm
(Caenorhabditis elegans)
Secernentea F35F11.1 29 30
  • 45.63 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC73 30 32
  • 24 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PHP 29
  • 45.35 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0664700 29
  • 46.56 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1785 30
  • 59 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5207 29
Species where no ortholog for CDC73 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CDC73 Gene

ENSEMBL:
Gene Tree for CDC73 (if available)
TreeFam:
Gene Tree for CDC73 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC73: view image
Alliance of Genome Resources:
Additional Orthologs for CDC73

Paralogs for CDC73 Gene

Pseudogenes.org Pseudogenes for CDC73 Gene

genes like me logo Genes that share paralogs with CDC73: view

No data available for Paralogs for CDC73 Gene

Variants for CDC73 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC73 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000153 Uncertain Significance: Parathyroid carcinoma 193,150,316(+) C/T
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
MISSENSE
1002832 Uncertain Significance: Parathyroid carcinoma 193,233,046(+) C/T
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile)
MISSENSE
1003357 Uncertain Significance: Parathyroid carcinoma 193,130,243(+) T/C
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro)
MISSENSE
1005682 Uncertain Significance: Parathyroid carcinoma 193,249,833(+) T/C
NM_024529.5(CDC73):c.1521T>C (p.Asp507=)
SYNONYMOUS
1008564 Uncertain Significance: Parathyroid carcinoma 193,152,395(+) A/G
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDC73 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDC73 Gene

Variant ID Type Subtype PubMed ID
dgv131e212 CNV gain 25503493
dgv499n100 CNV gain 25217958
esv2720818 CNV deletion 23290073
esv275037 CNV loss 21479260
esv275335 CNV gain+loss 21479260
esv275411 CNV gain+loss 21479260
nsv1001174 CNV loss 25217958
nsv1159811 CNV duplication 26073780
nsv466994 CNV loss 19166990
nsv506970 OTHER sequence alteration 20534489
nsv548658 CNV loss 21841781
nsv832148 CNV gain 17160897
nsv952606 CNV duplication 24416366

Variation tolerance for CDC73 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC73 Gene

Human Gene Mutation Database (HGMD)
CDC73
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC73
Leiden Open Variation Database (LOVD)
CDC73

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC73 Gene

Disorders for CDC73 Gene

MalaCards: The human disease database

(35) MalaCards diseases for CDC73 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hyperparathyroidism 1
  • hrpt1
hyperparathyroidism 2 with jaw tumors
  • hrpt2
parathyroid carcinoma
  • prtc
parathyroid adenoma
  • adenoma of parathyroid
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search CDC73 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDC73_HUMAN
  • Hyperparathyroidism 1 (HRPT1) [MIM:145000]: An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas. {ECO:0000269 PubMed:12434154, ECO:0000269 PubMed:12960210, ECO:0000269 PubMed:15632063, ECO:0000269 PubMed:16487440, ECO:0000269 PubMed:18755853}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hyperparathyroidism 2 with jaw tumors (HRPT2) [MIM:145001]: An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer. {ECO:0000269 PubMed:12434154, ECO:0000269 PubMed:15613436, ECO:0000269 PubMed:16487440}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Parathyroid carcinoma (PRTC) [MIM:608266]: These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment. {ECO:0000269 PubMed:14585940}. Note=The gene represented in this entry is involved in disease pathogenesis.

Additional Disease Information for CDC73

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Publications for CDC73 Gene

  1. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. (PMID: 18755853) Masi G … Palù G (Endocrine-related cancer 2008) 2 3 4 22
  2. Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. (PMID: 17555500) Haven CJ … Morreau H (Clinical endocrinology 2007) 3 4 22 40
  3. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PMID: 15632063) Rozenblatt-Rosen O … Meyerson M (Molecular and cellular biology 2005) 2 3 4 22
  4. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. (PMID: 14585940) Shattuck TM … Arnold A (The New England journal of medicine 2003) 3 4 22 72
  5. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID: 12434154) Carpten JD … Hobbs MR (Nature genetics 2002) 3 4 22 72

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Sources for CDC73 Gene