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Q9HC23

- PROK2_HUMAN

UniProt

Q9HC23 - PROK2_HUMAN

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Protein

Prokineticin-2

Gene

PROK2

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00390000014799.
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

        10         20         30         40         50
MRSLCCAPLL LLLLLPPLLL TPRAGDAAVI TGACDKDSQC GGGMCCAVSI
60 70 80 90 100
WVKSIRICTP MGKLGDSCHP LTRKNNFGNG RQERRKRKRS KRKKEVPFFG
110 120
RRMHHTCPCL PGLACLRTSF NRFICLAQK
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000014799.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 115 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