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Q8NFJ6

- PKR2_HUMAN

UniProt

Q8NFJ6 - PKR2_HUMAN

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Protein

Prokineticin receptor 2

Gene

PROKR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. neuropeptide Y receptor activity Source: InterPro

GO - Biological processi

  1. circadian rhythm Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Prokineticin receptor 2
Short name:
PK-R2
Alternative name(s):
G-protein coupled receptor 73-like 1
GPR73b
GPRg2
Gene namesi
Name:PROKR2
Synonyms:GPR73L1, PKR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15836. PROKR2.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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).3 Publications
Note: The disease is caused by mutations 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).3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851R → C in HH3; uncertain pathological significance. 1 Publication
VAR_030957
Natural varianti85 – 851R → H in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
Corresponds to variant rs74315418 [ dbSNP | Ensembl ].
VAR_030958
Natural varianti115 – 1151V → M in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries a mutation in PROK2. 1 Publication
VAR_069964
Natural varianti164 – 1641R → Q in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030959
Natural varianti173 – 1731L → R in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries the pathogenic mutation Leu-396 in KAL1. 1 Publication
Corresponds to variant rs74315416 [ dbSNP | Ensembl ].
VAR_030960
Natural varianti178 – 1781W → S in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
Corresponds to variant rs201835496 [ dbSNP | Ensembl ].
VAR_030961
Natural varianti202 – 2021S → G in HH3; triallelic inheritance; the patient also carries mutations in GNRH1 and FGFR1. 1 Publication
VAR_069965
Natural varianti210 – 2101Q → R in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030962
Natural varianti268 – 2681R → C in HH3; uncertain pathological significance; phenotype consistent with Kallmann syndrome; some patients also carry pathogenic mutations in SEMA3A. 2 Publications
Corresponds to variant rs78861628 [ dbSNP | Ensembl ].
VAR_030963
Natural varianti290 – 2901P → S in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030964
Natural varianti323 – 3231M → I in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030965
Natural varianti331 – 3311V → M in HH3; uncertain pathological significance. 2 Publications
VAR_030966

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

MIMi244200. phenotype.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
3157. Septo-optic dysplasia.
PharmGKBiPA30014.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 384384Prokineticin receptor 2PRO_0000070083Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi7 – 71N-linked (GlcNAc...)Sequence Analysis
Glycosylationi27 – 271N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi128 ↔ 208PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8NFJ6.
PRIDEiQ8NFJ6.

PTM databases

PhosphoSiteiQ8NFJ6.

Expressioni

Tissue specificityi

Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.

Gene expression databases

BgeeiQ8NFJ6.
CleanExiHS_PROKR2.
GenevestigatoriQ8NFJ6.

Organism-specific databases

HPAiHPA047281.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi126143. 1 interaction.
STRINGi9606.ENSP00000217270.

Structurei

3D structure databases

ProteinModelPortaliQ8NFJ6.
SMRiQ8NFJ6. Positions 51-367.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5454ExtracellularSequence AnalysisAdd
BLAST
Topological domaini76 – 8914CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini111 – 13626ExtracellularSequence AnalysisAdd
BLAST
Topological domaini158 – 17114CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini193 – 22331ExtracellularSequence AnalysisAdd
BLAST
Topological domaini245 – 27329CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini295 – 31319ExtracellularSequence AnalysisAdd
BLAST
Topological domaini335 – 38450CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei55 – 7521Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei90 – 11021Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei137 – 15721Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei172 – 19221Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei224 – 24421Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei274 – 29421Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei314 – 33421Helical; Name=7Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG319668.
GeneTreeiENSGT00760000118781.
HOGENOMiHOG000231664.
HOVERGENiHBG039631.
InParanoidiQ8NFJ6.
KOiK08380.
OMAiDYDLPMD.
OrthoDBiEOG73NG3D.
PhylomeDBiQ8NFJ6.
TreeFamiTF315303.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR000611. NPY_rcpt.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR01012. NRPEPTIDEYR.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NFJ6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAQNGNTSF TPNFNPPQDH ASSLSFNFSY GDYDLPMDED EDMTKTRTFF
60 70 80 90 100
AAKIVIGIAL AGIMLVCGIG NFVFIAALTR YKKLRNLTNL LIANLAISDF
110 120 130 140 150
LVAIICCPFE MDYYVVRQLS WEHGHVLCAS VNYLRTVSLY VSTNALLAIA
160 170 180 190 200
IDRYLAIVHP LKPRMNYQTA SFLIALVWMV SILIAIPSAY FATETVLFIV
210 220 230 240 250
KSQEKIFCGQ IWPVDQQLYY KSYFLFIFGV EFVGPVVTMT LCYARISREL
260 270 280 290 300
WFKAVPGFQT EQIRKRLRCR RKTVLVLMCI LTAYVLCWAP FYGFTIVRDF
310 320 330 340 350
FPTVFVKEKH YLTAFYVVEC IAMSNSMINT VCFVTVKNNT MKYFKKMMLL
360 370 380
HWRPSQRGSK SSADLDLRTN GVPTTEEVDC IRLK
Length:384
Mass (Da):43,996
Last modified:October 1, 2002 - v1
Checksum:i2D5BFA3655347B5E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851R → C in HH3; uncertain pathological significance. 1 Publication
VAR_030957
Natural varianti85 – 851R → H in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
Corresponds to variant rs74315418 [ dbSNP | Ensembl ].
VAR_030958
Natural varianti115 – 1151V → M in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries a mutation in PROK2. 1 Publication
VAR_069964
Natural varianti164 – 1641R → Q in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030959
Natural varianti173 – 1731L → R in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries the pathogenic mutation Leu-396 in KAL1. 1 Publication
Corresponds to variant rs74315416 [ dbSNP | Ensembl ].
VAR_030960
Natural varianti178 – 1781W → S in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
Corresponds to variant rs201835496 [ dbSNP | Ensembl ].
VAR_030961
Natural varianti202 – 2021S → G in HH3; triallelic inheritance; the patient also carries mutations in GNRH1 and FGFR1. 1 Publication
VAR_069965
Natural varianti210 – 2101Q → R in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030962
Natural varianti268 – 2681R → C in HH3; uncertain pathological significance; phenotype consistent with Kallmann syndrome; some patients also carry pathogenic mutations in SEMA3A. 2 Publications
Corresponds to variant rs78861628 [ dbSNP | Ensembl ].
VAR_030963
Natural varianti290 – 2901P → S in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030964
Natural varianti323 – 3231M → I in HH3; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_030965
Natural varianti331 – 3311V → M in HH3; uncertain pathological significance. 2 Publications
VAR_030966
Natural varianti335 – 3351T → M.1 Publication
VAR_030967

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF506288 mRNA. Translation: AAM48128.1.
AB084081 mRNA. Translation: BAC24022.1.
EF577398 mRNA. Translation: ABQ52418.1.
AL121755 Genomic DNA. Translation: CAI22379.1.
BC104959 mRNA. Translation: AAI04960.1.
BC104961 mRNA. Translation: AAI04962.1.
CCDSiCCDS13089.1.
RefSeqiNP_658986.1. NM_144773.2.
XP_005260720.1. XM_005260663.1.
UniGeneiHs.375029.

Genome annotation databases

EnsembliENST00000217270; ENSP00000217270; ENSG00000101292.
GeneIDi128674.
KEGGihsa:128674.
UCSCiuc010zqw.2. human.

Polymorphism databases

DMDMi33112425.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF506288 mRNA. Translation: AAM48128.1 .
AB084081 mRNA. Translation: BAC24022.1 .
EF577398 mRNA. Translation: ABQ52418.1 .
AL121755 Genomic DNA. Translation: CAI22379.1 .
BC104959 mRNA. Translation: AAI04960.1 .
BC104961 mRNA. Translation: AAI04962.1 .
CCDSi CCDS13089.1.
RefSeqi NP_658986.1. NM_144773.2.
XP_005260720.1. XM_005260663.1.
UniGenei Hs.375029.

3D structure databases

ProteinModelPortali Q8NFJ6.
SMRi Q8NFJ6. Positions 51-367.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126143. 1 interaction.
STRINGi 9606.ENSP00000217270.

Chemistry

BindingDBi Q8NFJ6.
ChEMBLi CHEMBL5548.
GuidetoPHARMACOLOGYi 336.

Protein family/group databases

GPCRDBi Search...

PTM databases

PhosphoSitei Q8NFJ6.

Polymorphism databases

DMDMi 33112425.

Proteomic databases

PaxDbi Q8NFJ6.
PRIDEi Q8NFJ6.

Protocols and materials databases

DNASUi 128674.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000217270 ; ENSP00000217270 ; ENSG00000101292 .
GeneIDi 128674.
KEGGi hsa:128674.
UCSCi uc010zqw.2. human.

Organism-specific databases

CTDi 128674.
GeneCardsi GC20M005282.
GeneReviewsi PROKR2.
HGNCi HGNC:15836. PROKR2.
HPAi HPA047281.
MIMi 244200. phenotype.
607123. gene.
neXtProti NX_Q8NFJ6.
Orphaneti 478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
3157. Septo-optic dysplasia.
PharmGKBi PA30014.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG319668.
GeneTreei ENSGT00760000118781.
HOGENOMi HOG000231664.
HOVERGENi HBG039631.
InParanoidi Q8NFJ6.
KOi K08380.
OMAi DYDLPMD.
OrthoDBi EOG73NG3D.
PhylomeDBi Q8NFJ6.
TreeFami TF315303.

Enzyme and pathway databases

Reactomei REACT_14819. Peptide ligand-binding receptors.
REACT_18283. G alpha (q) signalling events.

Miscellaneous databases

GeneWikii Prokineticin_receptor_2.
GenomeRNAii 128674.
NextBioi 82420.
PROi Q8NFJ6.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFJ6.
CleanExi HS_PROKR2.
Genevestigatori Q8NFJ6.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR000611. NPY_rcpt.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR01012. NRPEPTIDEYR.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor."
    Lin D.C.-H., Bullock C.M., Ehlert F.J., Chen J.-L., Tian H., Zhou Q.-Y.
    J. Biol. Chem. 277:19276-19280(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Martin A.L., Kaighin V.A., Aronstam R.S.
    Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-331.
    Tissue: Testis.
  4. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "Evidence that prokineticin receptor 2 exists as a dimer in vivo."
    Marsango S., Bonaccorsi di Patti M.C., Barra D., Miele R.
    Cell. Mol. Life Sci. 68:2919-2929(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  7. Cited for: VARIANTS HH3 CYS-85; HIS-85; GLN-164; ARG-173; SER-178; ARG-210; CYS-268; SER-290; ILE-323 AND MET-331, VARIANT MET-335.
  8. Cited for: VARIANT HH3 CYS-268.
  9. Cited for: VARIANTS HH3 MET-115 AND GLY-202.

Entry informationi

Entry nameiPKR2_HUMAN
AccessioniPrimary (citable) accession number: Q8NFJ6
Secondary accession number(s): A5JUU1
, Q2M3C0, Q5TDY1, Q9NTT0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2003
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3