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Aliases for PROK2 Gene

Aliases for PROK2 Gene

  • Prokineticin 2 2 3 5
  • Protein Bv8 Homolog 2 3 4
  • PK2 3 4
  • BV8 3 4
  • Prokineticin-2 3
  • KAL4 3
  • MIT1 3
  • HH4 3

External Ids for PROK2 Gene

Previous GeneCards Identifiers for PROK2 Gene

  • GC03P070509
  • GC03M071434
  • GC03M071625
  • GC03M071741
  • GC03M071903

Summaries for PROK2 Gene

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 Hypogonadotropic Hypogonadism 4 With Or Without Anosmia and Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency. Among its related pathways are Signaling by GPCR and RET signaling. GO annotations related to this gene include G-protein coupled receptor binding. An important paralog of this gene is PROK1.

UniProtKB/Swiss-Prot for PROK2 Gene

  • 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.

Additional gene information for PROK2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROK2 Gene

Genomics for PROK2 Gene

Regulatory Elements for PROK2 Gene

Enhancers for PROK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H071779 1.3 FANTOM5 Ensembl ENCODE 67.9 +5.3 5306 1 CTCF ZNF639 SOX6 ETV1 ZBTB11 CEBPB MAX GABPA PRDM6 ZNF316 PROK2 GPR27 EIF4E3 FOXP1
GH03H071784 0.6 FANTOM5 64 +0.8 819 0 ZBTB48 EZH2 PROK2 GPR27 EIF4E3 FOXP1
GH03H072076 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -295.0 -294993 6 HDGF PKNOX1 ATF1 FEZF1 YBX1 YY1 TCF12 ZNF766 GATA2 ELK1 RYBP PROK2 GPR27 EIF4E3 LINC00877 FOXP1 ENSG00000276471 ENSG00000273461
GH03H071850 0.5 FANTOM5 41.6 -65.6 -65642 0 POLR2A REST PROK2 GPR27 EIF4E3 FOXP1 RN7SL271P PIR57295
GH03H072099 1.6 FANTOM5 ENCODE dbSUPER 9.2 -315.6 -315648 3 PKNOX1 TBL1XR1 BMI1 RAD21 RFX5 GLIS2 SCRT2 ZNF143 ATF7 ETV6 RYBP EIF4E3 PROK2 LINC00877 GPR27 CCDC137P LINC00870
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PROK2 on UCSC Golden Path with GeneCards custom track

Promoters for PROK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000154385 106 201 MXI1 ARNT SUZ12 ZNF76 ZEB2 ZBTB8A FOXM1 POLR2A KLF8 ZBTB26

Genomic Location for PROK2 Gene

Chromosome:
3
Start:
71,771,655 bp from pter
End:
71,785,206 bp from pter
Size:
13,552 bases
Orientation:
Minus strand

Genomic View for PROK2 Gene

Genes around PROK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROK2 Gene

Proteins for PROK2 Gene

  • Protein details for PROK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC23-PROK2_HUMAN
    Recommended name:
    Prokineticin-2
    Protein Accession:
    Q9HC23
    Secondary Accessions:
    • Q53Z79
    • Q6ISR0

    Protein attributes for PROK2 Gene

    Size:
    129 amino acids
    Molecular mass:
    14314 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PROK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PROK2 Gene

Post-translational modifications for PROK2 Gene

No Post-translational modifications

Other Protein References for PROK2 Gene

No data available for DME Specific Peptides for PROK2 Gene

Domains & Families for PROK2 Gene

Gene Families for PROK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for PROK2 Gene

Suggested Antigen Peptide Sequences for PROK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC23

UniProtKB/Swiss-Prot:

PROK2_HUMAN :
  • Belongs to the AVIT (prokineticin) family.
Family:
  • Belongs to the AVIT (prokineticin) family.
genes like me logo Genes that share domains with PROK2: view

Function for PROK2 Gene

Molecular function for PROK2 Gene

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

Phenotypes From GWAS Catalog for PROK2 Gene

Gene Ontology (GO) - Molecular Function for PROK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding TAS 12728244
genes like me logo Genes that share ontologies with PROK2: view
genes like me logo Genes that share phenotypes with PROK2: view

Human Phenotype Ontology for PROK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PROK2 Gene

MGI Knock Outs for PROK2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PROK2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PROK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PROK2 Gene

Localization for PROK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROK2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PROK2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PROK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 12466223
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with PROK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PROK2 Gene

Pathways & Interactions for PROK2 Gene

genes like me logo Genes that share pathways with PROK2: view

SIGNOR curated interactions for PROK2 Gene

Activates:

Gene Ontology (GO) - Biological Process for PROK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS 12728244
GO:0001525 angiogenesis IDA 12604792
GO:0006935 chemotaxis IDA 12604792
GO:0006954 inflammatory response NAS 11259612
GO:0007186 G-protein coupled receptor signaling pathway NAS 11259612
genes like me logo Genes that share ontologies with PROK2: view

Drugs & Compounds for PROK2 Gene

(1) Additional Compounds for PROK2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PROK2: view

Transcripts for PROK2 Gene

mRNA/cDNA for PROK2 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PROK2 Gene

Prokineticin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PROK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PROK2 Gene

No ASD Table

Relevant External Links for PROK2 Gene

GeneLoc Exon Structure for
PROK2
ECgene alternative splicing isoforms for
PROK2

Expression for PROK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PROK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROK2 Gene

This gene is overexpressed in Whole Blood (x47.7).

Protein differential expression in normal tissues from HIPED for PROK2 Gene

This gene is overexpressed in Monocytes (58.5) and Platelet (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PROK2 Gene



Protein tissue co-expression partners for PROK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PROK2 Gene:

PROK2

SOURCE GeneReport for Unigene cluster for PROK2 Gene:

Hs.528665

mRNA Expression by UniProt/SwissProt for PROK2 Gene:

Q9HC23-PROK2_HUMAN
Tissue specificity: Expressed in the testis and, at low levels, in the small intestine.

Evidence on tissue expression from TISSUES for PROK2 Gene

  • Blood(2.8)
  • Nervous system(2.6)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PROK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PROK2: view

Primer Products

Orthologs for PROK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PROK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROK2 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia LOC610873 33
  • 92.78 (n)
rat
(Rattus norvegicus)
Mammalia Prok2 33
  • 85.93 (n)
mouse
(Mus musculus)
Mammalia Prok2 33 16 34
  • 85.63 (n)
cow
(Bos Taurus)
Mammalia PROK2 33 34
  • 85.16 (n)
oppossum
(Monodelphis domestica)
Mammalia PROK2 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves PROK2 33 34
  • 68.49 (n)
lizard
(Anolis carolinensis)
Reptilia PROK2 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485995 33
  • 68.25 (n)
zebrafish
(Danio rerio)
Actinopterygii prok2 33 34
  • 63.79 (n)
Species where no ortholog for PROK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PROK2 Gene

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

Paralogs for PROK2 Gene

Paralogs for PROK2 Gene

(1) SIMAP similar genes for PROK2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PROK2: view

Variants for PROK2 Gene

Sequence variations from dbSNP and Humsavar for PROK2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs104893767 Pathogenic, Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] 71,784,959(-) TCACC(C/G)GGGTA upstream-variant-2KB, reference, missense
rs121434272 Pathogenic, Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] 71,781,472(-) TGACT(C/G/T)GTAAA reference, missense
rs587777863 Pathogenic, Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] 71,784,983(-) CCCGC(C/G)CTGGG upstream-variant-2KB, reference, missense
rs587777864 Pathogenic, Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628] 71,781,588(-) GGCTT(A/G)TGACA reference, missense
VAR_072178 Hypogonadotropic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]

Structural Variations from Database of Genomic Variants (DGV) for PROK2 Gene

Variant ID Type Subtype PubMed ID
nsv524847 CNV loss 19592680
nsv590600 CNV loss 21841781

Variation tolerance for PROK2 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PROK2 Gene

Human Gene Mutation Database (HGMD)
PROK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROK2 Gene

Disorders for PROK2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PROK2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 4 with or without anosmia
  • kal4
prok2-related isolated gonadotropin-releasing hormone deficiency
  • hypogonadotropic hypogonadism 4 with or without anosmia
kallmann syndrome 4
  • kal4
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • gonadotropic deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PROK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROK2_HUMAN
  • 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). {ECO:0000269 PubMed:17054399, ECO:0000269 PubMed:18559922, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900}. 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). {ECO:0000269 PubMed:23643382}.

Relevant External Links for PROK2

Genetic Association Database (GAD)
PROK2
Human Genome Epidemiology (HuGE) Navigator
PROK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PROK2
genes like me logo Genes that share disorders with PROK2: view

No data available for Genatlas for PROK2 Gene

Publications for PROK2 Gene

  1. Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle. (PMID: 11259612) Li M … Zhou QY (Molecular pharmacology 2001) 2 3 4 22 60
  2. A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. (PMID: 20022991) Sarfati J … Young J (The Journal of clinical endocrinology and metabolism 2010) 3 22 45 60
  3. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. (PMID: 18723471) Canto P … Méndez JP (Journal of andrology 2009) 3 22 45 60
  4. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. (PMID: 18682503) Abreu AP … Latronico AC (The Journal of clinical endocrinology and metabolism 2008) 3 22 45 60
  5. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. (PMID: 18559922) Cole LW … Pitteloud N (The Journal of clinical endocrinology and metabolism 2008) 3 4 22 60

Products for PROK2 Gene

Sources for PROK2 Gene

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