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PROK2 Gene

protein-coding   GIFtS: 55
GCID: GC03M071820

Prokineticin 2

  See PROK2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prokineticin 21 2     HH42 5
Protein Bv8 Homolog1 2 3     KAL42
BV82 3 5     MIT12
PK22 3 5     prokineticin-22

External Ids:    HGNC: 184551   Entrez Gene: 606752   Ensembl: ENSG000001634217   OMIM: 6070025   UniProtKB: Q9HC233   

Export aliases for PROK2 gene to outside databases

Previous GC identifers: GC03P070509 GC03M071434 GC03M071625 GC03M071741 GC03M071903


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROK2 Gene:
This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as
the output component of the circadian clock. The secreted form of the encoded protein may also serve as a
chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are
similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and
have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for PROK2 Gene:
PROK2 (prokineticin 2) is a protein-coding gene. Diseases associated with PROK2 include cicatricial entropion, and prok2-related isolated gonadotropin-releasing hormone deficiency. GO annotations related to this gene include G-protein coupled receptor binding. An important paralog of this gene is PROK1.

UniProtKB/Swiss-Prot: PROK2_HUMAN, Q9HC23
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PROK2 gene promoter:
         Tal-1   MyoD   Nkx2-5   Tal-1beta   POU3F2   LCR-F1   E47   USF-1   HOXA5   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPROK2 promoter sequence
   Search Chromatin IP Primers for PROK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PROK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p13   Ensembl cytogenetic band:  3p13   HGNC cytogenetic band: 3p21.1

PROK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PROK2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M071820:  view genomic region     (about GC identifiers)

Start:
71,820,806 bp from pter      End:
71,834,357 bp from pter
Size:
13,552 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PROK2_HUMAN, Q9HC23 (See protein sequence)
Recommended Name: Prokineticin-2 precursor  
Size: 129 amino acids; 14314 Da
Secondary accessions: Q53Z79 Q6ISR0
Alternative splicing: 2 isoforms:  Q9HC23-1   Q9HC23-2   

Explore the universe of human proteins at neXtProt for PROK2: NX_Q9HC23

Explore proteomics data for PROK2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PROK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001119600.1  NP_068754.1  

    ENSEMBL proteins: 
     ENSP00000295618   ENSP00000295619  
    Reactome Protein details: Q9HC23

    PROK2 Human Recombinant Protein Products:

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    Novus Biologicals PROK2 Protein
    Novus Biologicals PROK2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PROK2 

    PROK2 Antibody Products:

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    Abcam antibodies for PROK2 (Q6ISR0, Q9HC23)
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for PROK2

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for PROK2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    2 InterPro protein domains:
     IPR009523 Prokineticin
     IPR023569 Prokineticin_domain

    Graphical View of Domain Structure for InterPro Entry Q9HC23

    ProtoNet protein and cluster: Q9HC23

    1 Blocks protein domain: IPB009523 Prokineticin

    UniProtKB/Swiss-Prot: PROK2_HUMAN, Q9HC23
    Similarity: Belongs to the AVIT (prokineticin) family


    Find genes that share domains with PROK2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROK2_HUMAN, Q9HC23
    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
    Induction: Activated by CLOCK and BMAL1 heterodimers and light; inhibited by period genes (PER1, PER2 and PER3)
    and cryptochrome genes (CRY1 and CRY2) (Probable)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding TAS12728244
         
    Find genes that share ontologies with PROK2           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Prok2):
     nervous system 

    Find genes that share phenotypes with PROK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Prok2tm1Qyz for PROK2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PROK2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PROK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PROK2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PROK2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PROK2:
    hsa-mir-96-5p (MIRT027934)

    Block miRNA regulation of human, mouse, rat PROK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROK2 (see all 21):
    hsa-miR-3128 hsa-miR-3942-5p hsa-miR-1271 hsa-miR-374a hsa-miR-885-5p hsa-miR-105 hsa-miR-144 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidPROK2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PROK2
    Predesigned siRNA for gene silencing in human, mouse, rat PROK2

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PROK2 (NM_021935)
    Sino Biological Human cDNA Clone for PROK2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PROK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PROK2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PROK2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROK2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROK2_HUMAN, Q9HC23: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS12466223

    Find genes that share ontologies with PROK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PROK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G protein alpha i and G protein alpha q
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46


    Find genes that share SuperPaths with PROK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for PROK2
        Peptide ligand-binding receptors
    G alpha (q) signalling events


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROK2: 
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PROK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PROK2 (ENSP000002956194) via UniProtKB, MINT, STRING, and/or I2D (see all 123)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EDN3ENSP000003371284STRING: ENSP00000337128
    EDNRBENSP000003353114STRING: ENSP00000335311
    F2RL1ENSP000002966774STRING: ENSP00000296677
    FFAR2ENSP000002465494STRING: ENSP00000246549
    FPR2ENSP000003401914STRING: ENSP00000340191
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS12728244
    GO:0001525angiogenesis IDA12604792
    GO:0006935chemotaxis IDA12604792
    GO:0006954inflammatory response NAS11259612
    GO:0007186G-protein coupled receptor signaling pathway NAS11259612

    Find genes that share ontologies with PROK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PROK2

    1 Novoseek inferred chemical compound relationship for PROK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 39 6 17442730 (1), 15483093 (1), 15932929 (1), 19754219 (1) (see all 5)



    Find genes that share compounds with PROK2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PROK2 gene (2 alternative transcripts): 
    NM_001126128.1  NM_021935.3  

    Unigene Cluster for PROK2:

    Prokineticin 2
    Hs.528665  [show with all ESTs]
    Unigene Representative Sequence: NM_001126128
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353065(uc003dpa.4 uc003doz.4) ENST00000295619
    miRNA
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    Block miRNA regulation of human, mouse, rat PROK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PROK2 (see all 21):
    hsa-miR-3128 hsa-miR-3942-5p hsa-miR-1271 hsa-miR-374a hsa-miR-885-5p hsa-miR-105 hsa-miR-144 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidPROK2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat PROK2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PROK2
      QuantiTect SYBR Green Assays in human, mouse, rat PROK2
      QuantiFast Probe-based Assays in human, mouse, rat PROK2

    Additional mRNA sequence: 

    AF182069.2 AF333025.1 AY349131.1 BC069395.1 BC096695.1 BC098110.1 BC098162.1 

    3 DOTS entries:

    DT.70103809  DT.99987459  DT.95239357 

    9 AceView cDNA sequences:

    BC069395 AY349131 AF333025 NM_021935 AI277349 AF182069 BX115959 AW082911 
    AI718823 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PROK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACGGAAGC
    PROK2 Expression
    About this image


    PROK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    PROK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PROK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528665

    UniProtKB/Swiss-Prot: PROK2_HUMAN, Q9HC23
    Tissue specificity: Expressed in the testis and, at low levels, in the small intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PROK2: 
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PROK2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PROK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PROK2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prok21 , 5 prokineticin 21, 5 85.63(n)1
    88.99(a)1
      6 (46.29 cM)5
    505011  NM_015768.21  NP_056583.11 
     997112995 
    chicken
    (Gallus gallus)
    Aves PROK21 prokineticin 2 68.49(n)
    68.49(a)
      771674  XM_001234924.3  XP_001234925.2 
    lizard
    (Anolis carolinensis)
    Reptilia PROK26
    prokineticin 2
    49(a)
    1 ↔ 1
    2(180094826-180098938)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004859951 AVIToxin-VAR1-like 68.25(n)
    69.05(a)
      100485995  XM_002938746.2  XP_002938792.1 
    zebrafish
    (Danio rerio)
    Actinopterygii prok21 prokineticin 2 63.79(n)
    66.67(a)
      100006398  NM_001172399.1  NP_001165870.1 


    ENSEMBL Gene Tree for PROK2 (if available)
    TreeFam Gene Tree for PROK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PROK2 gene
    PROK12  
    1 SIMAP similar gene for PROK2 using alignment to 1 protein entry:     PROK2_HUMAN:
    PROK1

    Find genes that share paralogs with PROK2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PROK2 (see all 284)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0309564
    Hypogonadotropic hypogonadism 4 with or without anosmia (HH4)4--see VAR_0309562 R C mis40--------
    VAR_0699704
    Hypogonadotropic hypogonadism 4 with or without anosmia (HH4)4--see VAR_0699702 A P mis40--------
    VAR_0309554
    Hypogonadotropic hypogonadism 4 with or without anosmia (HH4)4--see VAR_0309552 G R mis40--------
    rs1214342721,2
    Cpathogenic171783543(-) TGACTC/TGTAAA 4 R C mis11Minor allele frequency- T:0.00NA 4550
    rs1048937671,2
    Cpathogenic171787030(-) TCACCC/GGGGTA 4 R G mis10--------
    rs1896927811,2
    --71773344(+) GCGACA/GTTGAA 2 -- ds50010--------
    rs1834554541,2
    --71773355(+) ACCATG/TTACAA 2 -- ds50010--------
    rs2020833301,2
    C--71773432(+) TAACCA/GCTCGC 2 -- ds50010--------
    rs98180881,2
    C,F,H--71773454(+) CCATCA/GCTCTT 2 -- ds500114Minor allele frequency- G:0.09NS NA WA 1786
    rs284106411,2
    C--71773563(+) ATGCAT/CCGTTT 2 -- ds50012Minor allele frequency- C:0.10CSA WA 120

    HapMap Linkage Disequilibrium report for PROK2 (71820806 - 71834357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PROK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524847CNV Loss19592680

    Human Gene Mutation Database (HGMD): PROK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PROK2
    DNA2.0 Custom Variant and Variant Library Synthesis for PROK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607002   
    OMIM disorders: 610628  
    UniProtKB/Swiss-Prot: PROK2_HUMAN, Q9HC23
  • 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). 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)

  • 14 diseases for PROK2:    
    About MalaCards
    cicatricial entropion    prok2-related isolated gonadotropin-releasing hormone deficiency    kallmann syndrome 4    hypogonadotropic hypogonadism 4 with or without anosmia
    congenital anosmia    kallmann syndrome    ascariasis    entropion
    trichuriasis    mood disorder    hypogonadotropic hypogonadism 8 with or without anosmia    abdominal aortic aneurysm
    hypogonadotropic hypogonadism 17 with or without anosmia    septo-optic dysplasia

    2 diseases from the University of Copenhagen DISEASES database for PROK2:
    Klinefelter's syndrome     Hypogonadism

    Find genes that share disorders with PROK2           About GenesLikeMe

    1 Novoseek inferred disease relationship for PROK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 90.9 5 20022991 (1), 17624596 (1), 18596028 (1), 17054399 (1) (see all 7)

    GeneTests: PROK2
    GeneReviews: PROK2
    Genetic Association Database (GAD): PROK2
    Human Genome Epidemiology (HuGE) Navigator: PROK2 (7 documents)

    Export disorders for PROK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PROK2 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with PROK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle. (PubMed id 11259612)1, 2, 3, 9 Li M.... Zhou Q.-Y. (Mol. Pharmacol. 2001)
    2. Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1. (PubMed id 15772293)1, 2, 9 Chen J.... Liu C. (Mol. Pharmacol. 2005)
    3. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. (PubMed id 17054399)1, 2, 9 Dode C.... Hardelin J.-P. (PLoS Genet. 2006)
    4. A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. (PubMed id 20022991)1, 4, 9 Sarfati J....Young J. (J. Clin. Endocrinol. Metab. 2010)
    5. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. (PubMed id 18723471)1, 4, 9 Canto P....MAcndez J.P. (J. Androl. 2009)
    6. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. (PubMed id 18682503)1, 4, 9 Abreu A.P....Latronico A.C. (J. Clin. Endocrinol. Metab. 2008)
    7. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    8. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Murine Bv8 gene maps near a synteny breakpoint of mouse chromosome 6 and human 3p21. (PubMed id 11054548)1, 3 Jilek A....Lepperdinger G. (Gene 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 60675 HGNC: 18455 AceView: PROK2 Ensembl:ENSG00000163421 euGenes: HUgn60675
    ECgene: PROK2 H-InvDB: PROK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PROK2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PROK2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PROK2 gene:
    Search GeneIP for patents involving PROK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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