Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NFJ6

- PKR2_HUMAN

UniProt

Q8NFJ6 - PKR2_HUMAN

Protein

Prokineticin receptor 2

Gene

PROKR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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.
    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

    MAAQNGNTSF TPNFNPPQDH ASSLSFNFSY GDYDLPMDED EDMTKTRTFF    50
    AAKIVIGIAL AGIMLVCGIG NFVFIAALTR YKKLRNLTNL LIANLAISDF 100
    LVAIICCPFE MDYYVVRQLS WEHGHVLCAS VNYLRTVSLY VSTNALLAIA 150
    IDRYLAIVHP LKPRMNYQTA SFLIALVWMV SILIAIPSAY FATETVLFIV 200
    KSQEKIFCGQ IWPVDQQLYY KSYFLFIFGV EFVGPVVTMT LCYARISREL 250
    WFKAVPGFQT EQIRKRLRCR RKTVLVLMCI LTAYVLCWAP FYGFTIVRDF 300
    FPTVFVKEKH YLTAFYVVEC IAMSNSMINT VCFVTVKNNT MKYFKKMMLL 350
    HWRPSQRGSK SSADLDLRTN GVPTTEEVDC IRLK 384
    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.
    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

    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 1, 2014
    This is version 113 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