GENE REFERENCE / HGNC:10825

SH3BP2

SH3 domain binding protein 2

protein-coding gene4p16.3Gene information

What does this gene do?

The SH3BP2 gene provides instructions for making a protein whose exact function is unclear, although it is known to interact with other proteins within cells. The SH3BP2 protein plays a role in transmitting chemical signals, particularly in certain immune system cells and cells involved in the replacement of old bone tissue with new bone (bone remodeling).

Studies suggest that the SH3BP2 protein helps regulate signaling pathways that turn on (activate) immune system cells called B cells and macrophages. The protein is also involved in the production of osteoclasts, which are specialized cells that break down bone tissue when it is no longer needed. Osteoclasts play a central role in bone remodeling.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2020-03.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 1,043
Submissions for variants in or overlapping this gene: 1,610
Submissions explicitly reporting this gene: 1,454
Alleles reported pathogenic / likely pathogenic: 11
VariationIDs with uncertain significance: 412
VariationIDs with conflicting classifications: 47

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 SH3BP2?

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 11 alleles in SH3BP2 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 SH3BP2.

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

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