GHRHR
entrez
2692
canonical
uniprot
Q02643
canonical
ensembl
ENSG00000106128
resolver
ensp
ENSP00000320180
resolver
enst
ENST00000326139
resolver
genesymbol
GHRHR
resolver
hgnc
HGNC:4266
resolver
uniprot
Q99863
resolver
uniprot_entry
GHRHR_HUMAN
resolver
uniprot_sec
Q99863
resolver
amino_acid_sequence
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLTSMC
uniprot
proteins
disease_involvement
DISEASE: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]: An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269|PubMed:10084571, ECO:0000269|PubMed:11232012, ECO:0000269|PubMed:12534354, ECO:0000269|PubMed:8528260, ECO:0000269|PubMed:9467553}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
uniprot
proteins
mass_dalton
47402
uniprot
proteins
protein_family
G protein-coupled receptor 2 family
uniprot
proteins
pubmed
10084571
uniprot
proteins
pubmed
11232012
uniprot
proteins
pubmed
12534354
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
1333056
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
7680413
uniprot
proteins
pubmed
8528260
uniprot
proteins
pubmed
9467553
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 131..151; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 168..188; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 211..231; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 241..261; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 284..304; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 332..352; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 358..378; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins