Gene
CRIPT
CXXC repeat containing interactor of PDZ3 domain
- HGNC 14312↗(opens in a new tab)
- Ensembl gene ENSG00000119878↗(opens in a new tab)
- NCBI Gene 9419↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p21
- Coordinates
- Chromosome 2: 46,617,215–46,630,176 (GRCh38)
- Exons
- 5 exons across 13 kb
- Protein
- 101 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- HSPC139
- MANE Select transcript
- ENST00000238892.4NM_014171.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Rothmund-Thomson Syndrome
- Autosomal recessive
A genodermatosis with poikiloderma, sparse hair, small stature, skeletal abnormalities and, in type 2 (RECQL4), an increased risk of osteosarcoma and skin cancer.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Awareness of bone pain or swelling as possible signs of osteosarcoma, skin checks and sun protection; carriers have no expected health effects.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CRIPT 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 6.3 kb of the gene's 13 kb; 306 of those bases code for the protein.
How a genome test reads CRIPT
6
positions in CRIPT 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 13 kb of CRIPT, introns included, not only the 6.3 kb of exons.
Genes linked to the same conditions
Traits linked to CRIPT
The Human Phenotype Ontology lists these as features of the rare conditions CRIPT can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Corners of eye widely separated
- Depressed nasal bridge
- Frontal bossing
- High forehead
- Nasal tip, upturned
- Sparse eyebrow
- Sparse scalp hair
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.). CRIPT gene: CXXC repeat containing interactor of PDZ3 domain. Retrieved 16 October 2026, from https://dantelabs.com/genes/cript
Dante Labs. CRIPT gene: CXXC repeat containing interactor of PDZ3 domain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cript
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