GENE REFERENCE / HGNC:4263

GHR

growth hormone receptor

protein-coding gene5p13.1-p12Gene information

What does this gene do?

The GHR gene provides instructions for making a protein called the growth hormone receptor. This receptor is embedded in the outer membrane of cells throughout the body and is most abundant in liver cells.

The growth hormone receptor has three major parts: An extracellular region that sticks out from the surface of the cell, a transmembrane region that anchors the receptor to the cell membrane, and an intracellular region that transmits signals to the interior of the cell. The extracellular region attaches (binds) to a substance called growth hormone, fitting together like a lock and its key. The binding of growth hormone triggers signaling via the intracellular region of the receptor that stimulates the growth and division of cells. This signaling also leads to the production, primarily by liver cells, of another important growth-promoting hormone called insulin-like growth factor I (IGF-I).

Growth hormone and IGF-I have a wide variety of effects on the growth and function of many parts of the body. For example, these hormones stimulate the growth and division of cells called chondrocytes, which play a critical role in producing new bone tissue. Growth hormone and IGF-I also influence metabolism, including how the body uses and stores carbohydrates, proteins, and fats from food.

Researchers have identified two major versions (isoforms) of the growth hormone receptor. The two isoforms differ by the presence or absence of a particular segment known as exon 3, which is located in the extracellular region of the receptor. The version of the receptor that includes exon 3 is known as the full-length isoform (fl-GHR), while the version that is missing exon 3 is known as the exon 3-deficient isoform (d3-GHR). Both isoforms are relatively common in most populations. Each individual can have fl-GHR only, d3-GHR only, or a mix of both isoforms. The two isoforms bind to growth hormone in the same way on the surface of cells, but for reasons that are unclear, d3-GHR is associated with enhanced signaling within cells compared with fl-GHR.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-07-26. Source review: 2015-04.

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: 696
Submissions for variants in or overlapping this gene: 1,026
Submissions explicitly reporting this gene: 973
Alleles reported pathogenic / likely pathogenic: 73
VariationIDs with uncertain significance: 292
VariationIDs with conflicting classifications: 38

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 GHR?

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 73 alleles in GHR 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 GHR.

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

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