Gene
CDC73
cell division cycle 73
- HGNC 16783(opens in a new tab)
- Ensembl gene ENSG00000134371(opens in a new tab)
- NCBI Gene 79577(opens in a new tab)
Summary
- Cytogenetic location
- 1q31.2
- Coordinates
- Chromosome 1: 193,122,031–193,254,815 (GRCh38)
- Exons
- 17 exons across 132.8 kb
- Protein
- 531 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- parafibromin, FIHP
- Previous symbols
- C1orf28, HRPT2, HRPT1
- MANE Select transcript
- ENST00000367435.5NM_024529.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Inherited Parathyroid & Calcium-Sensing Disorders
- Hyperparathyroidism-jaw tumour syndromeAutosomal dominant
Parathyroid tumours with a raised risk of parathyroid cancer, jaw tumours and kidney and uterine lesions, caused by CDC73 variants.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Regular calcium and parathyroid hormone checks allow parathyroid tumours to be found and removed early.
- Familial isolated hyperparathyroidismAutosomal dominant
Overactive parathyroid glands running in families without other endocrine tumours.
- 1 GenCC submitter rates it definitive or strong
Malignant Endocrine Neoplasm
A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.
- 2 GenCC submitters rate it definitive or strong
Thyroid Cancer
- Parathyroid Gland Disorder
A disease involving the parathyroid gland.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How CDC73 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.9 kb of the gene's 132.8 kb; 1,596 of those bases code for the protein.
How a genome test reads CDC73
120
positions in CDC73 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 132.8 kb of CDC73, introns included, not only the 5.9 kb of exons.
Traits linked to CDC73
The Human Phenotype Ontology lists these as features of the rare conditions CDC73 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Poor swallowing
- Abdominal symptom
- Constipation
- Intermittent abdominal pain
- Nausea and vomiting
- Pancreatic inflammation
- Sore in the lining of gastrointestinal tract
- Pancreatic adenocarcinoma
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CDC73 gene: cell division cycle 73. Retrieved 16 October 2026, from https://dantelabs.com/genes/cdc73
Dante Labs. CDC73 gene: cell division cycle 73 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cdc73
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