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TRAF7
TNF receptor associated factor 7
The TRAF7 gene provides instructions for making the TRAF7 protein, which plays a role in diverse cellular signalling pathways and is crucial for normal development. TRAF7 (TNF receptor associated factor 7) is a gene that codes for a protein integral to several cellular communication processes.
TRAF7 is located on the short (p) arm of chromosome 16, at band 16p13.3. Arm ratio per GRCh38 - banding schematic.
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Overview
The TRAF7 gene is responsible for producing a protein called TNF receptor associated factor 7. This protein is a member of the TRAF (TNF receptor associated factor) family, which are known for their roles in signal transduction from various cell surface receptors. TRAF7 contributes to the regulation of significant biological processes within cells.
Dysregulation or changes in the TRAF7 gene can impact these pathways, affecting cellular development and function. Understanding the role of TRAF7 is important for comprehending the molecular basis of certain developmental conditions and cellular abnormalities.
What the gene does
The TRAF7 protein functions as a critical component in various intracellular signalling cascades, particularly those initiated by tumour necrosis factor (TNF) receptors, although its role extends beyond canonical TNF signalling. It acts as an E3 ubiquitin ligase, an enzyme that attaches ubiquitin tags to other proteins. These ubiquitin tags can serve several purposes, including marking proteins for degradation, altering their activity, or changing their cellular localisation. This ubiquitination activity is central to TRAF7's role in modulating cellular responses.
TRAF7 participates in regulating pathways involved in cell proliferation, differentiation, and apoptosis (programmed cell death). For example, it has been implicated in the Wnt signalling pathway, which is fundamental for embryonic development and tissue homeostasis. Furthermore, TRAF7 contributes to the regulation of immune responses and inflammation by interacting with components of innate immune signalling. Its broad involvement underscores its significance in maintaining cellular physiological balance and responding to external cues.
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Chromosome location
The TRAF7 gene is located on chromosome 16, specifically at position 16p13.3. This region of the human genome is situated on the short (p) arm of chromosome 16. The precise chromosomal location helps in mapping and understanding genetic variations associated with the gene. Chromosome 16 contains many genes that are vital for various biological functions, and its associated abnormalities can lead to a range of developmental and clinical conditions.
Protein structure
The TRAF7 protein is composed of 670 amino acids and features several distinct structural domains that dictate its functions. The N-terminal region includes two Disordered regions, spanning amino acids 1-37 and 49-97, which are typically flexible and involved in protein-protein interactions. Following these are two zinc finger domains: a RING-type Zinc finger from amino acids 131-165, which is characteristic of E3 ubiquitin ligases, and a TRAF-type Zinc finger at positions 222-276. The C-terminal portion of the protein contains seven WD (tryptophan-aspartic acid) repeats, organised as WD 1 (394-433), WD 2 (437-474), WD 3 (477-513), WD 4 (515-554), WD 5 (557-594), WD 6 (597-638), and WD 7 (641-669). These WD repeats commonly form β-propeller structures and are involved in mediating protein-protein interactions, which are crucial for TRAF7's role in signal transduction.
Key variants
Variations within the TRAF7 gene can arise in different forms, including single nucleotide changes, insertions, or deletions. These changes can alter the blueprint for the TRAF7 protein, potentially affecting its structure, stability, or function. The impact of a specific variant on protein function can range from benign to pathogenic, depending on its location and the nature of the alteration. Research continues to classify the clinical significance of identified TRAF7 variants, linking specific genetic changes to their biological consequences.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1204C>G | p.Leu402Val | Pathogenic | ★★☆☆ | Cardiac, facial, and digital anomalies with developmental delay |
c.1570C>T | p.Arg524Trp | Pathogenic/Likely pathogenic | ★★☆☆ | TRAF7-related disorder |
c.1673C>T | p.Ser558Phe | Pathogenic | ★★☆☆ | Cardiac, facial, and digital anomalies with developmental delay |
c.1873C>G | p.Leu625Val | Pathogenic/Likely pathogenic | ★★☆☆ | See cases |
c.1886G>A | p.Ser629Asn | Pathogenic/Likely pathogenic | ★★☆☆ | Cardiac, facial, and digital anomalies with developmental delay |
c.1964G>A | p.Arg655Gln | Pathogenic/Likely pathogenic | ★★☆☆ | TRAF7-related syndrome |
c.1571G>A | p.Arg524Gln | Pathogenic | ★☆☆☆ | not provided |
c.1936G>A | p.Val646Ile | Pathogenic | ★☆☆☆ | Cardiac, facial, and digital anomalies with developmental delay |
c.1036A>G | p.Lys346Glu | Pathogenic | - | Cardiac, facial, and digital anomalies with developmental delay |
c.1111C>G | p.Arg371Gly | Pathogenic | - | Cardiac, facial, and digital anomalies with developmental delay |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Although specific conditions are not explicitly linked in the provided data, alterations in the TRAF7 gene are generally associated with a range of developmental and physiological impacts due to its involvement in fundamental cellular processes. Given its role in cellular signalling pathways, TRAF7 variants may contribute to conditions affecting cell growth, differentiation, and tissue development. Genetic analysis of TRAF7 is often considered in contexts where developmental abnormalities or complex syndromes are present.
No disease links recorded for this gene in our reference set.
UK clinical status
In the UK, the TRAF7 gene is recognised within several NHS Genomic Medicine Service national test panels, indicating its clinical relevance in inherited conditions. It is listed as a 'green' gene on the Developmental Disorders (DDG2P) panel and the Foetal anomalies (R21) panel. Additionally, TRAF7 is included on the Intellectual disability (R29) panel, the Familial non syndromic congenital heart disease panel (also 'green'), and the Rare syndromic craniosynostosis or isolated multisuture synostosis (R100) panel, underscoring its association with these complex conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Diet & lifestyle considerations
General healthy lifestyle practices, such as maintaining a balanced diet, engaging in regular physical activity, and avoiding smoking, are broadly beneficial for overall health. These choices can support cellular function and general well-being. There is no conclusive evidence to suggest that specific lifestyle interventions can prevent or alter the course of conditions directly linked to TRAF7 gene variants.
Supplement considerations
There is currently no scientific evidence to support the use of specific dietary supplements for preventing or treating conditions associated with TRAF7 gene variants. Individuals considering any supplement should consult with a healthcare professional to ensure it is appropriate for their individual health needs and does not interact adversely with any medications or existing conditions.
Frequently asked questions
What is the primary function of the TRAF7 gene?
The TRAF7 gene provides instructions for making the TRAF7 protein, which acts as an E3 ubiquitin ligase. This protein plays a key role in various cellular signalling pathways, modulating cell growth, differentiation, and programmed cell death.
Where is the TRAF7 gene located in the human genome?
The TRAF7 gene is found on chromosome 16, specifically at the band position 16p13.3. This location helps scientists map and study genetic variations associated with the gene.
How does TRAF7 contribute to health?
TRAF7's involvement in essential cellular processes like signal transduction, cell proliferation, and immune responses means it is fundamental for normal development and the maintenance of cellular health and physiological balance.
Are there specific conditions associated with TRAF7 variants?
While detailed data on specific conditions was not provided, TRAF7 is recognised on several NHS Genomic Medicine Service panels, including those for developmental disorders, foetal anomalies, intellectual disability, and congenital heart disease, suggesting its involvement in these complex conditions.
Can lifestyle changes impact TRAF7-related conditions?
General healthy lifestyle behaviours are beneficial for overall health. However, there is no specific evidence indicating that lifestyle changes can prevent or modify the course of conditions directly linked to variants in the TRAF7 gene.