PROK2
entrez
60675
canonical
uniprot
Q9HC23
canonical
ensembl
ENSG00000163421
resolver
ensp
ENSP00000295618
resolver
ensp
ENSP00000295619
resolver
genesymbol
PROK2
resolver
genesymbol_syn
BV8
resolver
hgnc
HGNC:18455
resolver
uniprot
Q53Z79
resolver
uniprot
Q6ISR0
resolver
uniprot_entry
PROK2_HUMAN
resolver
uniprot_sec
Q53Z79
resolver
uniprot_sec
Q6ISR0
resolver
amino_acid_sequence
MRSLCCAPLLLLLLLPPLLLTPRAGDAAVITGACDKDSQCGGGMCCAVSIWVKSIRICTPMGKLGDSCHPLTRKNNFGNGRQERRKRKRSKRKKEVPFFGRRMHHTCPCLPGLACLRTSFNRFICLAQK
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]: 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: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 PROK2 as well as in other HH-associated genes including PROKR2 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle.
uniprot
proteins
mass_dalton
14314
uniprot
proteins
protein_family
AVIT (prokineticin) family
uniprot
proteins
pubmed
10580115
uniprot
proteins
pubmed
11259612
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772293
uniprot
proteins
pubmed
17054399
uniprot
proteins
pubmed
18559922
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
25077900
uniprot
proteins
sequence_length
129
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins