PROKR2
entrez
128674
canonical
uniprot
Q8NFJ6
canonical
ensembl
ENSG00000101292
resolver
ensp
ENSP00000217270
resolver
ensp
ENSP00000504128
resolver
enst
ENST00000217270
resolver
enst
ENST00000678254
resolver
genesymbol
PROKR2
resolver
genesymbol_syn
GPR73L1
resolver
genesymbol_syn
PKR2
resolver
hgnc
HGNC:15836
resolver
uniprot
A5JUU1
resolver
uniprot
A8K1T0
resolver
uniprot
Q2M3C0
resolver
uniprot
Q5TDY1
resolver
uniprot
Q9NTT0
resolver
uniprot_entry
A8K1T0_HUMAN
resolver
uniprot_entry
PKR2_HUMAN
resolver
uniprot_sec
A5JUU1
resolver
uniprot_sec
Q2M3C0
resolver
uniprot_sec
Q5TDY1
resolver
uniprot_sec
Q9NTT0
resolver
amino_acid_sequence
MAAQNGNTSFTPNFNPPQDHASSLSFNFSYGDYDLPMDEDEDMTKTRTFFAAKIVIGIALAGIMLVCGIGNFVFIAALTRYKKLRNLTNLLIANLAISDFLVAIICCPFEMDYYVVRQLSWEHGHVLCASVNYLRTVSLYVSTNALLAIAIDRYLAIVHPLKPRMNYQTASFLIALVWMVSILIAIPSAYFATETVLFIVKSQEKIFCGQIWPVDQQLYYKSYFLFIFGVEFVGPVVTMTLCYARISRELWFKAVPGFQTEQIRKRLRCRRKTVLVLMCILTAYVLCWAPFYGFTIVRDFFPTVFVKEKHYLTAFYVVECIAMSNSMINTVCFVTVKNNTMKYFKKMMLLHWRPSQRGSKSSADLDLRTNGVPTTEEVDCIRLK
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:18559922, ECO:0000269|PubMed:18826963, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROKR2 as well as in other HH-associated genes including KAL1, SEMA3A, PROK2, GNRH1 and FGFR1 (PubMed:17054399, PubMed:22927827, PubMed:23643382). {ECO:0000269|PubMed:17054399, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:28858133}.
uniprot
proteins
function
FUNCTION: Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.
uniprot
proteins
mass_dalton
43996
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11886876
uniprot
proteins
pubmed
12427552
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17054399
uniprot
proteins
pubmed
18559922
uniprot
proteins
pubmed
18826963
uniprot
proteins
pubmed
21161321
uniprot
proteins
pubmed
22927827
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
25077900
uniprot
proteins
pubmed
28858133
uniprot
proteins
sequence_length
384
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18826963}; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 55..75; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 90..110; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 172..192; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 274..294; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 314..334; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins