GENE REFERENCE / HGNC:5044

HNRNPK

heterogeneous nuclear ribonucleoprotein K

protein-coding gene9q21.32Gene information

What does this gene do?

The HNRNPK gene provides instructions for making a protein called heterogenous nuclear ribonucleoprotein K (hnRNP K). This protein attaches (binds) to DNA or its chemical cousin RNA and to other proteins. It acts as a docking site to bring together different molecules in the cell, which is important for relaying signals and controlling cellular functions. By bringing certain proteins together with DNA or RNA, the hnRNP K protein helps control the activity of genes and the production of proteins. By regulating gene activity and protein production, hnRNP K is involved in many cellular processes, including growth and division (proliferation) of cells, maturation of cells to take on specialized function (differentiation), and self-destruction (apoptosis) of cells when they are no longer needed.

The hnRNP K protein plays a role in the normal development or function of many body systems. In the brain, the protein may be involved in a process called synaptic plasticity, which is the ability of the connections between neurons (synapses) to change and adapt over time in response to experience. This process is critical for learning and memory. Another process in the brain involving the hnRNP K protein is the growth of nerve cell extensions called axons, which are essential for transmission of nerve impulses. While the protein is likely critical in other systems and processes, its role is not well understood.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2019-10.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndromeMONDO:0018681 · Evaluated 2021-12-21	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 419
Submissions for variants in or overlapping this gene: 531
Submissions explicitly reporting this gene: 468
Alleles reported pathogenic / likely pathogenic: 91
VariationIDs with uncertain significance: 117
VariationIDs with conflicting classifications: 12

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about HNRNPK?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 91 alleles in HNRNPK reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in HNRNPK.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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