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Q9HC23

- PROK2_HUMAN

UniProt

Q9HC23 - PROK2_HUMAN

Protein

Prokineticin-2

Gene

PROK2

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

    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.

    GO - Molecular functioni

    1. G-protein coupled receptor binding Source: UniProtKB

    GO - Biological processi

    1. activation of MAPK activity Source: UniProtKB
    2. angiogenesis Source: UniProtKB
    3. cell proliferation Source: UniProtKB
    4. chemotaxis Source: UniProtKB
    5. circadian rhythm Source: Ensembl
    6. G-protein coupled receptor signaling pathway Source: UniProtKB
    7. inflammatory response Source: UniProtKB
    8. negative regulation of apoptotic process Source: UniProtKB
    9. neuropeptide signaling pathway Source: UniProtKB-KW
    10. positive regulation of cytosolic calcium ion concentration Source: UniProtKB
    11. positive regulation of smooth muscle contraction Source: UniProtKB
    12. sensory perception of pain Source: UniProtKB
    13. spermatogenesis Source: UniProtKB

    Keywords - Molecular functioni

    Neuropeptide

    Keywords - Biological processi

    Biological rhythms

    Enzyme and pathway databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Prokineticin-2
    Short name:
    PK2
    Alternative name(s):
    Protein Bv8 homolog
    Gene namesi
    Name:PROK2
    Synonyms:BV8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:18455. PROK2.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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).2 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 PROK2 as well as in other HH-associated genes including PROKR2 (PubMed:23643382).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241A → P in HH4; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in PROKR2. 1 Publication
    VAR_069970
    Natural varianti32 – 321G → R in HH4; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_030955
    Natural varianti73 – 731R → C in HH4; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_030956

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi610628. phenotype.
    Orphaneti478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA38540.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 27271 PublicationAdd
    BLAST
    Chaini28 – 129102Prokineticin-2PRO_0000025809Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi34 ↔ 46By similarity
    Disulfide bondi40 ↔ 58By similarity
    Disulfide bondi45 ↔ 107By similarity
    Disulfide bondi68 ↔ 115By similarity
    Disulfide bondi109 ↔ 125By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiQ9HC23.
    PaxDbiQ9HC23.
    PRIDEiQ9HC23.

    PTM databases

    PhosphoSiteiQ9HC23.

    Expressioni

    Tissue specificityi

    Expressed in the testis and, at low levels, in the small intestine.

    Inductioni

    Activated by CLOCK and BMAL1 heterodimers and light; inhibited by period genes (PER1, PER2 and PER3) and cryptochrome genes (CRY1 and CRY2).Curated

    Gene expression databases

    BgeeiQ9HC23.
    CleanExiHS_PROK2.
    GenevestigatoriQ9HC23.

    Organism-specific databases

    HPAiHPA041408.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000295619.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HC23.
    SMRiQ9HC23. Positions 28-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AVIT (prokineticin) family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG39081.
    HOGENOMiHOG000004848.
    HOVERGENiHBG031845.
    InParanoidiQ9HC23.
    OMAiPLTRKNH.
    OrthoDBiEOG7SJD78.
    PhylomeDBiQ9HC23.
    TreeFamiTF332732.

    Family and domain databases

    InterProiIPR009523. Prokineticin.
    IPR023569. Prokineticin_domain.
    [Graphical view]
    PANTHERiPTHR18821. PTHR18821. 1 hit.
    PfamiPF06607. Prokineticin. 1 hit.
    [Graphical view]
    ProDomiPD059788. Prokineticin. 1 hit.
    [Graphical view] [Entries sharing at least one domain]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HC23-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRSLCCAPLL LLLLLPPLLL TPRAGDAAVI TGACDKDSQC GGGMCCAVSI    50
    WVKSIRICTP MGKLGDSCHP LTRKNNFGNG RQERRKRKRS KRKKEVPFFG 100
    RRMHHTCPCL PGLACLRTSF NRFICLAQK 129
    Length:129
    Mass (Da):14,314
    Last modified:September 26, 2001 - v2
    Checksum:i0487679E8700DA55
    GO
    Isoform 2 (identifier: Q9HC23-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         75-95: Missing.

    Show »
    Length:108
    Mass (Da):11,659
    Checksum:iD7AF89D8551A97FC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241A → P in HH4; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in PROKR2. 1 Publication
    VAR_069970
    Natural varianti32 – 321G → R in HH4; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_030955
    Natural varianti73 – 731R → C in HH4; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_030956

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei75 – 9521Missing in isoform 2. 2 PublicationsVSP_005219Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF333025 mRNA. Translation: AAK49919.1.
    AY349131 mRNA. Translation: AAR06657.1.
    CH471055 Genomic DNA. Translation: EAW65506.1.
    BC069395 mRNA. Translation: AAH69395.1.
    BC096695 mRNA. Translation: AAH96695.1.
    BC098110 mRNA. Translation: AAH98110.1.
    BC098162 mRNA. Translation: AAH98162.1.
    AF182069 mRNA. Translation: AAG16893.2.
    CCDSiCCDS2916.1. [Q9HC23-2]
    CCDS46868.1. [Q9HC23-1]
    RefSeqiNP_001119600.1. NM_001126128.1. [Q9HC23-1]
    NP_068754.1. NM_021935.3. [Q9HC23-2]
    UniGeneiHs.528665.

    Genome annotation databases

    EnsembliENST00000295619; ENSP00000295619; ENSG00000163421. [Q9HC23-1]
    ENST00000353065; ENSP00000295618; ENSG00000163421. [Q9HC23-2]
    GeneIDi60675.
    KEGGihsa:60675.
    UCSCiuc003doz.4. human. [Q9HC23-2]
    uc003dpa.4. human. [Q9HC23-1]

    Polymorphism databases

    DMDMi18202953.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF333025 mRNA. Translation: AAK49919.1 .
    AY349131 mRNA. Translation: AAR06657.1 .
    CH471055 Genomic DNA. Translation: EAW65506.1 .
    BC069395 mRNA. Translation: AAH69395.1 .
    BC096695 mRNA. Translation: AAH96695.1 .
    BC098110 mRNA. Translation: AAH98110.1 .
    BC098162 mRNA. Translation: AAH98162.1 .
    AF182069 mRNA. Translation: AAG16893.2 .
    CCDSi CCDS2916.1. [Q9HC23-2 ]
    CCDS46868.1. [Q9HC23-1 ]
    RefSeqi NP_001119600.1. NM_001126128.1. [Q9HC23-1 ]
    NP_068754.1. NM_021935.3. [Q9HC23-2 ]
    UniGenei Hs.528665.

    3D structure databases

    ProteinModelPortali Q9HC23.
    SMRi Q9HC23. Positions 28-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000295619.

    PTM databases

    PhosphoSitei Q9HC23.

    Polymorphism databases

    DMDMi 18202953.

    Proteomic databases

    MaxQBi Q9HC23.
    PaxDbi Q9HC23.
    PRIDEi Q9HC23.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295619 ; ENSP00000295619 ; ENSG00000163421 . [Q9HC23-1 ]
    ENST00000353065 ; ENSP00000295618 ; ENSG00000163421 . [Q9HC23-2 ]
    GeneIDi 60675.
    KEGGi hsa:60675.
    UCSCi uc003doz.4. human. [Q9HC23-2 ]
    uc003dpa.4. human. [Q9HC23-1 ]

    Organism-specific databases

    CTDi 60675.
    GeneCardsi GC03M071820.
    GeneReviewsi PROK2.
    HGNCi HGNC:18455. PROK2.
    HPAi HPA041408.
    MIMi 607002. gene.
    610628. phenotype.
    neXtProti NX_Q9HC23.
    Orphaneti 478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA38540.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39081.
    HOGENOMi HOG000004848.
    HOVERGENi HBG031845.
    InParanoidi Q9HC23.
    OMAi PLTRKNH.
    OrthoDBi EOG7SJD78.
    PhylomeDBi Q9HC23.
    TreeFami TF332732.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GenomeRNAii 60675.
    NextBioi 65482.
    PROi Q9HC23.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HC23.
    CleanExi HS_PROK2.
    Genevestigatori Q9HC23.

    Family and domain databases

    InterProi IPR009523. Prokineticin.
    IPR023569. Prokineticin_domain.
    [Graphical view ]
    PANTHERi PTHR18821. PTHR18821. 1 hit.
    Pfami PF06607. Prokineticin. 1 hit.
    [Graphical view ]
    ProDomi PD059788. Prokineticin. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle."
      Li M., Bullock C.M., Knauer D.J., Ehlert F.J., Zhou Q.-Y.
      Mol. Pharmacol. 59:692-698(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1."
      Chen J., Kuei C., Sutton S., Wilson S., Yu J., Kamme F., Mazur C., Lovenberg T., Liu C.
      Mol. Pharmacol. 67:2070-2076(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 2).
    5. "The mammalian homologues of frog Bv8 are mainly expressed in spermatocytes."
      Wechselberger C., Puglisi R., Lepperdinger G., Boitani C., Kreil G.
      FEBS Lett. 462:177-181(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-129 (ISOFORM 1).
      Tissue: Testis.
    6. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 28-42.
    7. Cited for: VARIANTS HH4 ARG-32 AND CYS-73.
    8. Cited for: VARIANT HH4 PRO-24.

    Entry informationi

    Entry nameiPROK2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HC23
    Secondary accession number(s): Q53Z79, Q6ISR0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: September 26, 2001
    Last modified: October 1, 2014
    This is version 114 of the entry and version 2 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, Direct protein sequencing, Reference proteome

    Documents

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

    External Data

    Dasty 3