Gene
CNBP
CCHC-type zinc finger nucleic acid binding protein
- HGNC 13164(opens in a new tab)
- Ensembl gene ENSG00000169714(opens in a new tab)
- NCBI Gene 7555(opens in a new tab)
Summary
- Cytogenetic location
- 3q21.3
- Coordinates
- Chromosome 3: 129,167,827–129,183,896 (GRCh38)
- Exons
- 5 exons across 16.1 kb
- Protein
- 177 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- RNF163, ZCCHC22, CNBP1
- Previous symbols
- DM2, ZNF9
- MANE Select transcript
- ENST00000422453.7NM_003418.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Myotonic Dystrophy
- Autosomal dominant
An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Mexiletine for myotonia; cardiac pacemaker/ICD for conduction disease; non-invasive ventilation for respiratory insufficiency; annual cardiac and pulmonary monitoring; avoidance of certain anesthetic agents
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 CNBP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 3.3 kb of the gene's 16.1 kb; 534 of those bases code for the protein.
Traits linked to CNBP
The Human Phenotype Ontology lists these as features of the rare conditions CNBP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Diffuse skeletal muscle wasting
- Handgrip myotonia
- Proximal neurogenic muscle weakness
- Sternocleidomastoid amyotrophy
- Axial muscle weakness
- Muscle degeneration
- Myotonia
- Muscle stiffness
Show 2 more traits
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.
- 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.). CNBP gene: CCHC-type zinc finger nucleic acid binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/cnbp
Dante Labs. CNBP gene: CCHC-type zinc finger nucleic acid binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cnbp
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