Gene Information
|
Gene Name
|
GHR |
|
Gene ID
|
2690
|
|
Gene Full Name
|
growth hormone receptor |
|
Gene Alias
|
GHBP|GHIP |
|
Transcripts
|
ENSG00000112964
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Plasma membrane, Cytosol, Cytoplasmic bodies;Secreted to blood; 
|
|
Membrane Info
|
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Predicted secreted proteins |
|
Uniport_ID
|
P10912
|
|
HGNC ID
|
HGNC:4263
|
|
OMIM ID
|
600946 |
|
Summary
|
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] |
Target gene [GHR] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6009574 |
chr5 |
31 |
4 |
1 |
36 |
View |
| 6009575 |
chr5 |
31 |
4 |
1 |
36 |
View |
| 6010923 |
chr5 |
26 |
2 |
0 |
28 |
View |
| 6024325 |
chr5 |
3 |
0 |
0 |
3 |
View |
Target gene [GHR] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - GHR peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
