GHR
| is a | gene |
| is | mentioned by |
| Full name | growth hormone receptor |
| EntrezGene | 2690 |
| PheGenI | 2690 |
| VariationViewer | 2690 |
| ClinVar | GHR |
| GeneCards | GHR |
| dbSNP | 2690 |
| Diseases | GHR |
| SADR | 2690 |
| HugeNav | 2690 |
| wikipedia | GHR |
| GHR | |
| gopubmed | GHR |
| EVS | GHR |
| HEFalMp | GHR |
| MyGene2 | GHR |
| 23andMe | GHR |
| UniProt | P10912 |
| Ensembl | ENSG00000112964 |
| OMIM | 600946 |
| # SNPs | 33 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1060499692 | 0 | 42,694,931 | |
| rs121909357 | 0 | 42,694,991 | |
| rs121909358 | 0 | 42,688,934 | |
| rs121909359 | 0 | 42,688,921 | |
| rs121909360 | 0 | 42,699,978 | |
| rs121909361 | 0 | 42,688,937 | |
| rs121909362 | 0 | 42,699,919 | |
| rs121909363 | 0 | 42,711,291 | |
| rs121909364 | 0 | 42,711,312 | |
| rs121909365 | 0 | 42,699,830 | |
| rs121909366 | 0 | 42,699,892 | |
| rs121909367 | 0 | 42,699,896 | |
| rs121909368 | 0 | 42,699,899 | |
| rs121909369 | 0 | 42,699,902 | |
| rs121909370 | 0 | 42,629,069 | |
| rs121909371 | 0 | 42,694,953 | |
| rs121909372 | 0 | 42,694,985 | |
| rs121909373 | 0 | 42,699,888 | |
| rs13153388 | 0 | 42,507,231 | |
| rs13188386 | 0 | 42,473,453 | |
| rs2940944 | 0 | 42,489,040 | |
| rs34838342 | 0 | 42,565,884 | |
| rs385640152 | 0 | 31,909,478 | |
| rs45588036 | 0 | 42,711,314 | |
| rs4590183 | 2 | 42,626,104 | |
| rs6180 | 0 | 42,719,137 | |
| rs6413484 | 0 | 42,699,868 | |
| rs6873545 | 2 | 42,631,162 | |
| rs6898743 | 0 | 42,602,390 | |
| rs730880281 | 0 | 42,711,206 | |
| rs730880282 | 0 | 42,713,519 | |
| rs730880308 | 0 | 42,718,051 | |
| rs886037910 | 0 | 42,699,943 |
The GHR gene on chromosome 5 encodes the growth hormone receptor. Mutations in the GHR gene can lead to altered sensitivity to growth hormone, resulting in abnormal height (among other characteristics).
There are 2 major forms of the GHR mRNA in humans, based on whether exon 3 is present or absent. The full-length form is the most prevalent form, but the isoform lacking exon 3, which is known as d3GHR or d3-GHR, is found in most populations worldwide at a low but still significant frequency (~10% of individuals in many populations are d3/d3 homozygotes). The d3-GHR form is generated from a GHR (germline) allele that lacks exon 3; it is not generated by alternative splicing.
An interesting although preliminary study published in 2017 concluded that males carrying two d3-GHR alleles lived ~10 years longer than those carrying one or more full-length alleles; on average, these males were also 1 inch taller, had lower serum IGF-1 levels, and were more responsive to growth hormone. Male centenarians were also more likely to have two d3-GHR alleles than non-centenarians. Note that these longevity effects were not seen in females.10.1126/sciadv.1602025
There are at least two SNPs that 'tag' the d3-GHR allele with near certainty, at least in Caucasian/European populations (and perhaps others) and that are also present on most genotyping chips. [PMID 23740230
],[PMID 17220348] These SNPs, shown below with the tagging (minor) allele correlated with the d3-GHR allele, are:
- rs6873545(C); in 23andMe and other data
- rs4590183(C) in Ancestry.com and other data
