Free for academic non-profit institutions. Other users need a Commercial license
Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008] See more...
Aliases for PROKR2 Gene
Aliases for PROKR2 Gene
External Ids for PROKR2 Gene
- HGNC: 15836
- NCBI Entrez Gene: 128674
- Ensembl: ENSG00000101292
- OMIM®: 607123
- UniProtKB/Swiss-Prot: Q8NFJ6
Previous HGNC Symbols for PROKR2 Gene
- GPR73L1
- KAL3
Previous GeneCards Identifiers for PROKR2 Gene
- GC20M005231
- GC20M005282
- GC20M005238
- GC20M005301
- GC20M005303
- GC20M005311
Summaries for PROKR2 Gene
-
Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]
GeneCards Summary for PROKR2 Gene
PROKR2 (Prokineticin Receptor 2) is a Protein Coding gene. Diseases associated with PROKR2 include Hypogonadotropic Hypogonadism 3 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and neuropeptide Y receptor activity. An important paralog of this gene is PROKR1.
UniProtKB/Swiss-Prot Summary for PROKR2 Gene
-
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.
Additional gene information for PROKR2 Gene
- HGNC (15836)
- NCBI Entrez Gene (128674)
- Ensembl (ENSG00000101292)
- OMIM® (607123)
- UniProtKB/Swiss-Prot (Q8NFJ6)
- Open Targets Platform(ENSG00000101292)
- Monarch Initiative
- Alliance of Genome Resources
- Search for PROKR2 at DataMed
- Search for PROKR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROKR2 Gene
Genomics for PROKR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PROKR2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH20J005316 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 250.7 | +0.3 | 342 | 0.8 | ETS1 EGR1 CTCF RAD21 HNRNPL EZH2 ZNF143 GLIS2 SMC3 ZBTB20 | ENSG00000266908 PROKR2 HSALNG0128388 CDS2 | |
| GH20J005314 | Promoter | 0.4 | EPDnew | 250.7 | +2.5 | 2545 | 0.1 | CEBPG | HSALNG0128388 PROKR2 CDS2 | |
| GH20J005648 | Enhancer | 1.5 | FANTOM5 ENCODE CraniofacialAtlas dbSUPER | 2.3 | -337.9 | -337852 | 11.7 | BCLAF1 ZNF207 NCOR1 ZNF592 CEBPA CHD4 REST CEBPB TRIM22 BHLHE40 | GPCPD1 TRMT6 SHLD1 PROKR2 HSALNG0128420 piR-50308-370 | |
| GH20J005292 | Promoter | 0.5 | Ensembl | 6.5 | +24.2 | 24153 | 0.4 | HLF CBX8 | HSALNG0128385 UBE2D3P1 lnc-PROKR2-1 PROKR2 CDS2 | |
| GH20J005297 | Enhancer | 0.3 | Ensembl | 5.3 | +19.0 | 18953 | 0.4 | MXD4 | PROKR2 UBE2D3P1 piR-30465-020 CDS2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PROKR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROKR2
- Top Transcription factor binding sites by QIAGEN in the PROKR2 gene promoter:
-
- c-Myb
- Elk-1
- N-Myc
- NRF-2
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- SRF
- SRF (504 AA)
- XBP-1
Genomic Locations for PROKR2 Gene
Latest Assembly
- chr20:5,298,852-5,316,954
- (GRCh38/hg38)
- Size:
- 18,103 bases
- Orientation:
- Minus strand
Previous Assembly
- chr20:5,279,864-5,297,600
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 17,737 bases
- Orientation:
- Minus strand
Genomic View for PROKR2 Gene
Genes around PROKR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p12.3 by HGNC
- 20p12.3 by Entrez Gene
- 20p12.3 by Ensembl
PROKR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PROKR2 Gene
Proteins for PROKR2 Gene
-
Protein details for PROKR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NFJ6-PKR2_HUMAN
- Recommended name:
- Prokineticin receptor 2
- Protein Accession:
- Q8NFJ6
- A5JUU1
- Q2M3C0
- Q5TDY1
- Q9NTT0
Protein attributes for PROKR2 Gene
- Size:
- 384 amino acids
- Molecular mass:
- 43996 Da
- Quaternary structure:
-
- Homodimer.
Post-translational modifications for PROKR2 Gene
Other Protein References for PROKR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PROKR2/Prokineticin Receptor 2 Antibody (LS-B5918) and PROKR2/Prokineticin Receptor 2 Antibody (LS-A3155)
- G Biosciences Immunotag™ PKR2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PROKR2
- Novus Biologicals Antibodies for PROKR2
-
Abcam antibodies for PROKR2
- Invitrogen Antibodies for PROKR2 (AFLGC-PROKR2)
-
Boster Bio Antibodies for PROKR2
-
Custom Antibody ServicesProSci Antibodies for PROKR2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PROKR2
- Sino Biological Antibodies for PROKR2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PROKR2
- Origene Custom Protein Services for PROKR2
- Novus Biologicals proteins for PROKR2
Assay products for research
No data available for DME Specific Peptides for PROKR2 Gene
Domains & Families for PROKR2 Gene
Gene Families for PROKR2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- G-protein coupled receptors
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for PROKR2 Gene
- InterPro:
Suggested Antigen Peptide Sequences for PROKR2 Gene
- GenScript: Design optimal peptide antigens:
-
- GPRg2 (PKR2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NFJ6- Family:
-
- Belongs to the G-protein coupled receptor 1 family.
Function for PROKR2 Gene
Molecular function for PROKR2 Gene
- UniProtKB/Swiss-Prot Function:
- 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.
Phenotypes From GWAS Catalog for PROKR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004930 | G protein-coupled receptor activity | IEA,IBA | 21873635 |
| GO:0004983 | neuropeptide Y receptor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
Phenotypes for PROKR2 Gene
- MGI mutant phenotypes for PROKR2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PROKR2:
-
- Increased shRNA abundance (Z-score > 2)
- no effect
- Decreased viability ratio
- Decreased hepcidin::fluc mRNA expression
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased gamma-H2AX phosphorylation
- Decreased shRNA abundance (Z-score < -2)
- Weakly decreased NFAT1-GFP nuclear translocation
- High actin ratio cells
Animal Models for PROKR2 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for PROKR2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PROKR2 - Starting at $85 >
- * PROKR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PROKR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PROKR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PROKR2
miRNA for PROKR2 Gene
- miRTarBase miRNAs that target PROKR2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PROKR2
- Browse OriGene Inhibitory RNA Products For PROKR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROKR2
Clone products for research
- Applied Biological Materials (abm): Clones for PROKR2 - Starting at $45 >
- * PROKR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PROKR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PROKR2
Cell Lines for research
-
Horizon Cell Lines for PROKR2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PROKR2 Gene
Localization for PROKR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PROKR2 Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PROKR2 Gene
Pathways & Interactions for PROKR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Signaling by GPCR | ||
| 3 | RET signaling | ||
| 4 | Circadian rythm related genes | ||
| 5 | GPCRs, Other | ||
Pathways by source for PROKR2 Gene
2 BioSystems pathways for PROKR2 Gene
8 Reactome pathways for PROKR2 Gene
Interacting Proteins for PROKR2 Gene
Selected Interacting proteins:
Q8NFJ6-PKR2_HUMAN
ENSP00000217270
for PROKR2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PROKR2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007186 | G protein-coupled receptor signaling pathway | IEA,TAS | -- |
| GO:0007218 | neuropeptide signaling pathway | IEA | -- |
| GO:0007623 | circadian rhythm | IBA | 21873635 |
Drugs & Compounds for PROKR2 Gene
Transcripts for PROKR2 Gene
mRNA/cDNA for PROKR2 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000217270 4017 nts (view in UCSC)
- ENST00000678059 4057 nts (view in UCSC)
- ENST00000678254 4446 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PROKR2 - Starting at $85 >
- * PROKR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PROKR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PROKR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PROKR2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PROKR2
- Browse OriGene Inhibitory RNA Products For PROKR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROKR2
Clone products for research
- Applied Biological Materials (abm): Clones for PROKR2 - Starting at $45 >
- * PROKR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PROKR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PROKR2
Relevant External Links for PROKR2 Gene
- GeneLoc Exon Structure for
- PROKR2
Expression for PROKR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
mRNA differential expression in normal tissues according to GTEx for PROKR2 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.1), Brain - Anterior cingulate cortex (BA24) (x9.8), Brain - Cortex (x6.6), and Brain - Hippocampus (x4.4).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROKR2
SOURCE GeneReport for Unigene cluster for PROKR2 Gene:
Hs.375029mRNA Expression by UniProt/SwissProt for PROKR2 Gene:
Q8NFJ6-PKR2_HUMAN
Tissue specificity:
Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.
Evidence on tissue expression from TISSUES for PROKR2 Gene
- Nervous system(4.5)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PROKR2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
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
- urinary bladder
- 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 nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for PROKR2
-
OriGene qPCR primer pairs and template standards for PROKR2
Gene Expression Assays for research
No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PROKR2 Gene
Orthologs for PROKR2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PROKR2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PROKR2 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | PROKR2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Prokr2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Prokr2 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | PROKR2 29 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prokr2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC798231 29 |
|
||
| CU929052.1 30 |
|
ManyToMany | |||
| prokr1a 30 |
|
ManyToMany |
- Species where no ortholog for PROKR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 PROKR2 Gene
- ENSEMBL:
- Gene Tree for PROKR2 (if available)
- TreeFam:
- Gene Tree for PROKR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PROKR2: view image
- Alliance of Genome Resources:
- Additional Orthologs for PROKR2
Paralogs for PROKR2 Gene
Paralogs for PROKR2 Gene
(3) SIMAP similar genes for PROKR2 Gene using alignment to 1 proteins:
- PKR2_HUMAN
Variants for PROKR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROKR2 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1012475 | Likely Pathogenic: not provided | 5,302,137(-) |
C/T NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) |
MISSENSE | |
| 895676 | Likely Benign: Kallmann syndrome 3 | 5,302,084(-) |
C/G NM_144773.3(PROKR2):c.1111G>C (p.Gly371Arg) |
MISSENSE | |
| 895677 | Uncertain Significance: Kallmann syndrome 3 | 5,302,084(-) |
C/T NM_144773.3(PROKR2):c.1111G>A (p.Gly371Arg) |
MISSENSE | |
| 895678 | Uncertain Significance: Kallmann syndrome 3 | 5,302,143(-) |
T/G NM_144773.3(PROKR2):c.1052A>C (p.His351Pro) |
MISSENSE | |
| 895746 | Likely Benign: Kallmann syndrome 3 | 5,314,109(-) |
G/A NM_144773.3(PROKR2):c.261C>T (p.Leu87=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.92;
59.42% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PROKR2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROKR2 Gene
Disorders for PROKR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypogonadotropic hypogonadism 3 with or without anosmia |
|
|
| kallmann syndrome |
|
|
| kallmann syndrome 3 |
|
|
| septooptic dysplasia |
|
|
| normosmic congenital hypogonadotropic hypogonadism |
|
Search PROKR2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PKR2_HUMAN- 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). {ECO:0000269 PubMed:17054399, ECO:0000269 PubMed:18559922, ECO:0000269 PubMed:18826963, ECO:0000269 PubMed:22927827, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900}. Note=The disease is caused by variants 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). {ECO:0000269 PubMed:17054399, ECO:0000269 PubMed:22927827, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:28858133}.
Additional Disease Information for PROKR2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for PROKR2 Gene
Publications for PROKR2 Gene
- Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. (PMID: 17054399) Dodé C … Hardelin JP (PLoS genetics 2006) 2 3 4 22 72
- PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. (PMID: 18826963) Monnier C … Rondard P (Human molecular genetics 2009) 3 4 22 72
- 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 72
- 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 40 72
- 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 40
ExternalLinks
Products for PROKR2 Gene
- Custom Antibody ServicesOriGene Antibodies for PROKR2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PROKR2
- Origene Custom Protein Services for PROKR2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PROKR2
- Browse OriGene Inhibitory RNA Products For PROKR2
- OriGene qPCR primer pairs for PROKR2
- OriGene qPCR primer pairs and template standards for PROKR2
- OriGene CRISPR knockouts for PROKR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PROKR2
- Sino Biological Human cDNA Clone for PROKR2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for PROKR2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PROKR2
- Novus Biologicals proteins for PROKR2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PROKR2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for PROKR2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PROKR2 (AFLGC-PROKR2)
- VectorBuilder Custom and pre-made DNA vectors for PROKR2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PROKR2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PROKR2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PROKR2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PROKR2
- antibodies-online: Show 17 available Prokineticin Receptor 2 Antibodies ranked by validation data
- Compare Top Prokineticin Receptor 2 Antibodies
- antibodies-online: Show 29 available Prokineticin Receptor 2 Elisa Kits ranked by validation data
- Compare Top Prokineticin Receptor 2 Elisa Kits
- antibodies-online: Show 4 available Prokineticin Receptor 2 Proteins ranked by validation data
- Compare Top Prokineticin Receptor 2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PROKR2
- Search Santa Cruz Biotechnology (SCBT) for PROKR2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PROKR2
- Custom Antibody ServicesProSci Antibodies for PROKR2
- Search for PROKR2 Proteins at ProSci
- Horizon Cell Lines for PROKR2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PROKR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PROKR2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PROKR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROKR2
- Boster Bio Antibodies for PROKR2
- Browse Boster Bio ELISA Kits
Sources for PROKR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources