Gene
HNRNPK
heterogeneous nuclear ribonucleoprotein K
- HGNC 5044↗(opens in a new tab)
- Ensembl gene ENSG00000165119↗(opens in a new tab)
- NCBI Gene 3190↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q21.32
- Coordinates
- Chromosome 9: 83,968,083–83,980,215 (GRCh38)
- Exons
- 17 exons across 12.1 kb
- Protein
- 464 amino acids
- Also known as
- CSBP, TUNP
- Previous symbols
- HNRPK
- MANE Select transcript
- ENST00000376263.8NM_031263.4
- 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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No Genome Test report reads HNRNPK yet. The test sequences your whole genome, so your data includes it all the same.
How HNRNPK 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 2.9 kb of the gene's 12.1 kb; 1,395 of those bases code for the protein.
How a genome test reads HNRNPK
51
positions in HNRNPK where ClinVar classes a change as pathogenic or likely pathogenic
3 of them (5.9%) fall in regions short reads find hard.
- Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 12.1 kb of HNRNPK, introns included, not only the 2.9 kb of exons.
Traits linked to HNRNPK
The Human Phenotype Ontology lists these as features of the rare conditions HNRNPK can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Thickened skin folds of neck
- Broad opening between the eyelids
- Abnormally large tongue
- Abnormally small head
- Asymmetry of the posterior head
- Bad bite
- Bifid uvula
- Broad nasal tip
Show 37 more traits
- Cleft nasal tip
- Cleft tongue
- Decreased depth of eye sockets
- Deep central lingual groove
- Deformity of the skull
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Early closure of midline skull joint
- Eyelids stay open
- High palate
- Increased nuchal translucency
- Limited hair on end of eyebrow
- Long face
- Narrow forehead
- Open mouth
- Prominent metopic ridge
- Prominent nasal bridge
- Receding chin
- Short nose
- Underdeveloped tissue around nostril
- Wide nasal bridge
- Wide nasal ridge
- Abnormality of baby teeth
- Branchial anomaly
- Cleft palate
- Coarse facial features
- Cystic hygroma
- Decreased number of teeth
- Eversion of lateral third of lower eyelids
- Exaggerated cupid's bow
- High, narrow palate
- Lambdoidal craniosynostosis
- Metopic synostosis
- Open bite
- Pit in front of the ear
- Failure of development of more than six teeth
- Long, narrow head
Abnormality of the nervous system
- Global developmental delay
- Absent speech development
- Attention deficit
- Delayed ability to walk
- Fluid-filled cyst in spinal cord
- Gray matter heterotopia
- Inability to walk
- Intellectual disability, severe
Show 13 more traits
Abnormality of the musculoskeletal system
- Vertebral segmentation defect
- Low muscle tone
- Abnormal formation of the hip
- Funnel chest
- Scoliosis
- Thoracolumbar scoliosis
- Double-Jointed
- Muscle weakness
Show 3 more traits
Abnormality of the digestive system
- Feeding difficulties
- Acid reflux
- Constipation
- Delayed gastric emptying
- Episodic vomiting
- Feeding difficulties in infancy
- Gastrointestinal dysmotility
- Intestinal pseudo-obstruction
Show 1 more trait
Abnormality of the cardiovascular system
- Abnormality of the heart
- Bulge in wall of root of large artery that carries blood away from heart
- High blood pressure
- Hole in heart wall separating two lower heart chambers
- An opening in the wall separating the top two chambers of the heart
- Aortic valve has two leaflets rather than three
- Bulge in wall of large artery that carries blood away from heart
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.
- 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.). HNRNPK gene: heterogeneous nuclear ribonucleoprotein K. Retrieved 17 October 2026, from https://dantelabs.com/genes/hnrnpk
Dante Labs. HNRNPK gene: heterogeneous nuclear ribonucleoprotein K [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hnrnpk
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