PROK2 (prokineticin 2) - Rat Genome Database

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Gene: PROK2 (prokineticin 2) Homo sapiens
Analyze
Symbol: PROK2
Name: prokineticin 2
RGD ID: 1350776
HGNC Page HGNC:18455
Description: Predicted to enable G protein-coupled receptor binding activity. Involved in several processes, including angiogenesis; endothelial cell proliferation; and positive regulation of smooth muscle contraction. Predicted to be located in extracellular region. Implicated in hypogonadotropic hypogonadism 4 with or without anosmia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BV8; HH4; KAL4; MIT1; PK2; prokineticin-2; protein Bv8 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38371,771,655 - 71,785,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl371,771,655 - 71,785,206 (-)EnsemblGRCh38hg38GRCh38
GRCh37371,820,806 - 71,834,299 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36371,903,497 - 71,916,902 (-)NCBINCBI36Build 36hg18NCBI36
Build 34371,903,496 - 71,916,902NCBI
Celera371,751,377 - 71,764,927 (-)NCBICelera
Cytogenetic Map3p13NCBI
HuRef371,822,789 - 71,836,340 (-)NCBIHuRef
CHM1_1371,772,193 - 71,785,741 (-)NCBICHM1_1
T2T-CHM13v2.0371,810,890 - 71,824,379 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the voice  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Amenorrhea  (IAGP)
Anosmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anxiety  (IAGP)
Aplasia of the olfactory bulb  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
Bimanual synkinesia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Cleft palate  (IAGP)
Color vision defect  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Dysarthria  (IAGP)
Dyspareunia  (IAGP)
Erectile dysfunction  (IAGP)
Eunuchoid habitus  (IAGP)
Female hypogonadism  (IAGP)
Gait disturbance  (IAGP)
Generalized joint hypermobility  (IAGP)
Gynecomastia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hyposmia  (IAGP)
Hypothalamic gonadotropin-releasing hormone deficiency  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impotence  (IAGP)
Increased female libido  (IAGP)
Male hypogonadism  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Non-obstructive azoospermia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paraplegia  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Phenotypic abnormality  (IAGP)
Primary amenorrhea  (IAGP)
Ptosis  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Renal agenesis  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal dysplasia  (IAGP)
Sparse body hair  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Typified by incomplete penetrance  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10580115   PMID:11054548   PMID:11259612   PMID:12024206   PMID:12427552   PMID:12466223   PMID:12477932   PMID:12604792   PMID:12728244   PMID:14978236   PMID:15126578   PMID:15340161  
PMID:15489334   PMID:15548611   PMID:15772293   PMID:16763065   PMID:17054399   PMID:17903308   PMID:17959774   PMID:18285834   PMID:18300343   PMID:18559922   PMID:18577758   PMID:18682503  
PMID:18723471   PMID:19336519   PMID:20022991   PMID:20172976   PMID:20301509   PMID:20389090   PMID:20734064   PMID:21666788   PMID:21873635   PMID:22050240   PMID:22528488   PMID:23082007  
PMID:23333304   PMID:23386640   PMID:23548897   PMID:24002956   PMID:24423319   PMID:25531638   PMID:26047640   PMID:26192875   PMID:26317645   PMID:26574895   PMID:26728949   PMID:27887936  
PMID:29643149   PMID:29873146   PMID:30277602   PMID:31766244   PMID:32296183   PMID:32572760   PMID:32887509   PMID:33140874   PMID:33932486   PMID:33961781   PMID:34244497   PMID:34526577  
PMID:35921971   PMID:36218142   PMID:36263704   PMID:36539034   PMID:36549578   PMID:37090721  


Genomics

Comparative Map Data
PROK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38371,771,655 - 71,785,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl371,771,655 - 71,785,206 (-)EnsemblGRCh38hg38GRCh38
GRCh37371,820,806 - 71,834,299 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36371,903,497 - 71,916,902 (-)NCBINCBI36Build 36hg18NCBI36
Build 34371,903,496 - 71,916,902NCBI
Celera371,751,377 - 71,764,927 (-)NCBICelera
Cytogenetic Map3p13NCBI
HuRef371,822,789 - 71,836,340 (-)NCBIHuRef
CHM1_1371,772,193 - 71,785,741 (-)NCBICHM1_1
T2T-CHM13v2.0371,810,890 - 71,824,379 (-)NCBIT2T-CHM13v2.0
Prok2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39699,687,833 - 99,703,368 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl699,688,260 - 99,703,353 (-)EnsemblGRCm39 Ensembl
GRCm38699,711,299 - 99,726,392 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl699,711,299 - 99,726,392 (-)EnsemblGRCm38mm10GRCm38
MGSCv37699,661,293 - 99,676,386 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36699,676,762 - 99,691,855 (-)NCBIMGSCv36mm8
Celera6101,575,424 - 101,590,523 (-)NCBICelera
Cytogenetic Map6D3NCBI
cM Map646.29NCBI
Prok2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84133,903,210 - 133,918,126 (-)NCBIGRCr8
mRatBN7.24132,346,681 - 132,361,754 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4132,347,103 - 132,361,385 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4137,761,400 - 137,776,228 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04133,542,182 - 133,557,004 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04132,160,453 - 132,175,271 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04132,157,556 - 132,171,244 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4132,157,556 - 132,171,153 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04196,648,637 - 196,662,531 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44134,561,300 - 134,574,487 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14134,806,140 - 134,819,328 (-)NCBI
Celera4121,207,301 - 121,220,343 (-)NCBICelera
Cytogenetic Map4q34NCBI
Prok2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542116,325,519 - 16,337,980 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542116,325,519 - 16,339,458 (+)NCBIChiLan1.0ChiLan1.0
PROK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2271,729,996 - 71,744,472 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1371,734,783 - 71,749,259 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0371,711,334 - 71,724,865 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1373,067,609 - 73,080,897 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl373,068,599 - 73,080,897 (-)Ensemblpanpan1.1panPan2
PROK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha2020,223,646 - 20,237,384 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02020,280,503 - 20,294,239 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2020,280,467 - 20,294,206 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12019,967,457 - 19,981,222 (+)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.02020,382,640 - 20,396,378 (+)NCBIUU_Cfam_GSD_1.0
Prok2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049423,298,129 - 3,310,006 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366033,299,736 - 3,310,011 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366033,299,736 - 3,419,539 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PROK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1353,169,524 - 53,185,171 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11353,169,040 - 53,184,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21358,857,144 - 58,872,870 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PROK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12232,721,188 - 32,739,348 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041134,040,511 - 134,054,121 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prok2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247736,307,653 - 6,323,208 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247736,310,025 - 6,323,245 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PROK2
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg) single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003784]|PROK2-related condition [RCV003415642] Chr3:71784959 [GRCh38]
Chr3:71834110 [GRCh37]
Chr3:3p13		 pathogenic|uncertain significance
PROK2, 1-BP INS, 234T insertion Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003785] Chr3:3p21.1 pathogenic
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) deletion Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003786]|PROK2-related condition [RCV003892107]|not provided [RCV000516187] Chr3:71781526 [GRCh38]
Chr3:71830677 [GRCh37]
Chr3:3p13		 pathogenic
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000003788]|not provided [RCV001851628] Chr3:71781472 [GRCh38]
Chr3:71830623 [GRCh37]
Chr3:3p13		 pathogenic|uncertain significance
GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 copy number loss See cases [RCV000051512] Chr3:64761248..78410098 [GRCh38]
Chr3:64746924..78459248 [GRCh37]
Chr3:64721964..78541938 [NCBI36]
Chr3:3p14.1-12.3		 pathogenic
GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1 copy number loss See cases [RCV000051513] Chr3:70296167..74865078 [GRCh38]
Chr3:70345318..74914229 [GRCh37]
Chr3:70428008..74996919 [NCBI36]
Chr3:3p13-12.3		 pathogenic
NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro) single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000144710]|PROK2-related condition [RCV003965087] Chr3:71784983 [GRCh38]
Chr3:71834134 [GRCh37]
Chr3:3p13		 pathogenic|uncertain significance
NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr) single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000144711] Chr3:71781588 [GRCh38]
Chr3:71830739 [GRCh37]
Chr3:3p13		 pathogenic|not provided
GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1 copy number loss See cases [RCV000133821] Chr3:67391006..73414001 [GRCh38]
Chr3:67441430..73463152 [GRCh37]
Chr3:67524120..73545842 [NCBI36]
Chr3:3p14.1-13		 pathogenic
GRCh38/hg38 3p13(chr3:70943620-71861889)x1 copy number loss See cases [RCV000137697] Chr3:70943620..71861889 [GRCh38]
Chr3:70992771..71911040 [GRCh37]
Chr3:71075461..71993730 [NCBI36]
Chr3:3p13		 pathogenic
GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 copy number gain See cases [RCV000140215] Chr3:68328980..76764319 [GRCh38]
Chr3:68378130..76813470 [GRCh37]
Chr3:68460820..76896160 [NCBI36]
Chr3:3p14.1-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh38/hg38 3p13(chr3:71124507-71892267)x3 copy number gain See cases [RCV000142251] Chr3:71124507..71892267 [GRCh38]
Chr3:71173658..71941418 [GRCh37]
Chr3:71256348..72024108 [NCBI36]
Chr3:3p13		 uncertain significance
GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1 copy number loss See cases [RCV000142649] Chr3:71317346..74324671 [GRCh38]
Chr3:71366497..74373822 [GRCh37]
Chr3:71449187..74456512 [NCBI36]
Chr3:3p13-12.3		 pathogenic
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV002506018]|not provided [RCV000861058]|not specified [RCV000418095] Chr3:71784969 [GRCh38]
Chr3:71834120 [GRCh37]
Chr3:3p13		 benign|likely benign
NM_001126128.2(PROK2):c.-35A>G single nucleotide variant not specified [RCV000438787] Chr3:71785087 [GRCh38]
Chr3:71834238 [GRCh37]
Chr3:3p13		 benign
GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3 copy number gain See cases [RCV000448203] Chr3:70127345..74508912 [GRCh37]
Chr3:3p13-12.3		 uncertain significance
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) duplication Hypogonadotropic hypogonadism 4 with or without anosmia [RCV002295299]|PROK2-related condition [RCV003419793]|not provided [RCV000486838]|not specified [RCV003401531] Chr3:71772816..71772817 [GRCh38]
Chr3:71821967..71821968 [GRCh37]
Chr3:3p13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001126128.2(PROK2):c.227A>G (p.Asn76Ser) single nucleotide variant Inborn genetic diseases [RCV003277329] Chr3:71774503 [GRCh38]
Chr3:71823654 [GRCh37]
Chr3:3p13		 uncertain significance
GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1 copy number loss See cases [RCV000512368] Chr3:70433832..77012164 [GRCh37]
Chr3:3p13-12.3		 pathogenic
GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1 copy number loss not provided [RCV000682270] Chr3:66133719..75076440 [GRCh37]
Chr3:3p14.1-12.3		 pathogenic
GRCh37/hg19 3p13(chr3:70618611-72399570)x1 copy number loss not provided [RCV000682271] Chr3:70618611..72399570 [GRCh37]
Chr3:3p13		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p13(chr3:71758015-71821490)x1 copy number loss not provided [RCV000742511] Chr3:71758015..71821490 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.*221T>G single nucleotide variant not provided [RCV001585528] Chr3:71772503 [GRCh38]
Chr3:71821654 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.*136T>C single nucleotide variant not provided [RCV001583492] Chr3:71772588 [GRCh38]
Chr3:71821739 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.285+14G>A single nucleotide variant not provided [RCV001690630]|not specified [RCV001701215] Chr3:71774431 [GRCh38]
Chr3:71823582 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.97-9A>G single nucleotide variant not provided [RCV000873375] Chr3:71781601 [GRCh38]
Chr3:71830752 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.1(PROK2):c.-253T>C single nucleotide variant not provided [RCV000833551] Chr3:71785305 [GRCh38]
Chr3:71834456 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.222+277A>G single nucleotide variant not provided [RCV000833552] Chr3:71781190 [GRCh38]
Chr3:71830341 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.332C>A (p.Pro111Gln) single nucleotide variant not provided [RCV000861407] Chr3:71772782 [GRCh38]
Chr3:71821933 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.-4C>A single nucleotide variant Hypogonadotropic hypogonadism 4 with or without anosmia [RCV000987292]|PROK2-related condition [RCV003936239] Chr3:71785056 [GRCh38]
Chr3:71834207 [GRCh37]
Chr3:3p13		 benign|likely benign
GRCh37/hg19 3p13(chr3:71665558-72020026)x3 copy number gain not provided [RCV001005444] Chr3:71665558..72020026 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.*164del deletion not provided [RCV001595353] Chr3:71772560 [GRCh38]
Chr3:71821711 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.223-205C>A single nucleotide variant not provided [RCV001639979] Chr3:71774712 [GRCh38]
Chr3:71823863 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.99T>C (p.Ala33=) single nucleotide variant PROK2-related condition [RCV003955726]|not provided [RCV000875228] Chr3:71781590 [GRCh38]
Chr3:71830741 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.96+4A>G single nucleotide variant Disorder of sexual differentiation [RCV001568331] Chr3:71784953 [GRCh38]
Chr3:71834104 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.285+238G>C single nucleotide variant not provided [RCV001565837] Chr3:71774207 [GRCh38]
Chr3:71823358 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.*164dup duplication not provided [RCV001637692] Chr3:71772559..71772560 [GRCh38]
Chr3:71821710..71821711 [GRCh37]
Chr3:3p13		 benign
NC_000003.12:g.71785217C>G single nucleotide variant not provided [RCV001658874] Chr3:71785217 [GRCh38]
Chr3:71834368 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.286-277C>T single nucleotide variant not provided [RCV001649885] Chr3:71773105 [GRCh38]
Chr3:71822256 [GRCh37]
Chr3:3p13		 benign
NC_000003.12:g.71785378C>G single nucleotide variant not provided [RCV001652797] Chr3:71785378 [GRCh38]
Chr3:71834529 [GRCh37]
Chr3:3p13		 benign
GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3 copy number gain not provided [RCV001259675] Chr3:70938608..74660846 [GRCh37]
Chr3:3p13-12.3		 uncertain significance
NM_001126128.2(PROK2):c.-2C>A single nucleotide variant not provided [RCV001765120] Chr3:71785054 [GRCh38]
Chr3:71834205 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.223-2A>G single nucleotide variant PROK2-related condition [RCV003917351] Chr3:71774509 [GRCh38]
Chr3:71823660 [GRCh37]
Chr3:3p13		 pathogenic|likely pathogenic
Single allele deletion See cases [RCV001374461] Chr3:68965654..72679568 [GRCh37]
Chr3:3p14.1-13		 pathogenic
NM_001126128.2(PROK2):c.100_112del (p.Cys34fs) deletion not provided [RCV001387313] Chr3:71781577..71781589 [GRCh38]
Chr3:71830728..71830740 [GRCh37]
Chr3:3p13		 pathogenic
NM_001126128.2(PROK2):c.*163_*164del deletion not provided [RCV001588719] Chr3:71772560..71772561 [GRCh38]
Chr3:71821711..71821712 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.301C>T (p.Arg101Trp) single nucleotide variant PROK2-related condition [RCV003426190]|not provided [RCV001756590] Chr3:71772813 [GRCh38]
Chr3:71821964 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.3G>A (p.Met1Ile) single nucleotide variant Hypogonadotropic hypogonadism [RCV002254887] Chr3:71785050 [GRCh38]
Chr3:71834201 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.*2C>T single nucleotide variant not specified [RCV001822188] Chr3:71772722 [GRCh38]
Chr3:71821873 [GRCh37]
Chr3:3p13		 benign
NM_001126128.2(PROK2):c.181A>G (p.Met61Val) single nucleotide variant Amenorrhea [RCV001849742] Chr3:71781508 [GRCh38]
Chr3:71830659 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.302G>A (p.Arg101Gln) single nucleotide variant PROK2-related condition [RCV003416596]|not provided [RCV001947649] Chr3:71772812 [GRCh38]
Chr3:71821963 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.364C>T (p.Arg122Ter) single nucleotide variant not provided [RCV001942833] Chr3:71772750 [GRCh38]
Chr3:71821901 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.57G>C (p.Leu19=) single nucleotide variant not provided [RCV002475411] Chr3:71784996 [GRCh38]
Chr3:71834147 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.185G>A (p.Gly62Asp) single nucleotide variant Inborn genetic diseases [RCV002782057] Chr3:71781504 [GRCh38]
Chr3:71830655 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.297del (p.Phe99fs) deletion Inborn genetic diseases [RCV002887335]|PROK2-related condition [RCV003395650] Chr3:71772817 [GRCh38]
Chr3:71821968 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.8G>A (p.Ser3Asn) single nucleotide variant Inborn genetic diseases [RCV002784813] Chr3:71785045 [GRCh38]
Chr3:71834196 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.223-19G>T single nucleotide variant not provided [RCV002760718] Chr3:71774526 [GRCh38]
Chr3:71823677 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.7A>G (p.Ser3Gly) single nucleotide variant not provided [RCV002745735] Chr3:71785046 [GRCh38]
Chr3:71834197 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.97G>C (p.Ala33Pro) single nucleotide variant Inborn genetic diseases [RCV002812983] Chr3:71781592 [GRCh38]
Chr3:71830743 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.205C>T (p.His69Tyr) single nucleotide variant Inborn genetic diseases [RCV002896370] Chr3:71781484 [GRCh38]
Chr3:71830635 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.215C>T (p.Thr72Ile) single nucleotide variant Inborn genetic diseases [RCV003207646] Chr3:71781474 [GRCh38]
Chr3:71830625 [GRCh37]
Chr3:3p13		 uncertain significance
GRCh37/hg19 3p13(chr3:71707206-72157556)x1 copy number loss not provided [RCV003485393] Chr3:71707206..72157556 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.365G>A (p.Arg122Gln) single nucleotide variant PROK2-related condition [RCV003408779] Chr3:71772749 [GRCh38]
Chr3:71821900 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.212T>C (p.Leu71Pro) single nucleotide variant not provided [RCV003831434] Chr3:71781477 [GRCh38]
Chr3:71830628 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.285+13C>T single nucleotide variant not provided [RCV003578028] Chr3:71774432 [GRCh38]
Chr3:71823583 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.85G>A (p.Val29Met) single nucleotide variant not provided [RCV003687695] Chr3:71784968 [GRCh38]
Chr3:71834119 [GRCh37]
Chr3:3p13		 uncertain significance
GRCh37/hg19 3p13(chr3:70583776-72793789)x1 copy number loss not specified [RCV003986401] Chr3:70583776..72793789 [GRCh37]
Chr3:3p13		 pathogenic
NM_001126128.2(PROK2):c.-5G>A single nucleotide variant PROK2-related condition [RCV003939516] Chr3:71785057 [GRCh38]
Chr3:71834208 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.30G>T (p.Leu10=) single nucleotide variant PROK2-related condition [RCV003964751] Chr3:71785023 [GRCh38]
Chr3:71834174 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.-8A>G single nucleotide variant PROK2-related condition [RCV003949255] Chr3:71785060 [GRCh38]
Chr3:71834211 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.124G>C (p.Gly42Arg) single nucleotide variant PROK2-related condition [RCV003937215] Chr3:71781565 [GRCh38]
Chr3:71830716 [GRCh37]
Chr3:3p13		 uncertain significance
NM_001126128.2(PROK2):c.33C>T (p.Leu11=) single nucleotide variant PROK2-related condition [RCV003951987] Chr3:71785020 [GRCh38]
Chr3:71834171 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.296T>C (p.Phe99Ser) single nucleotide variant PROK2-related condition [RCV003904710] Chr3:71772818 [GRCh38]
Chr3:71821969 [GRCh37]
Chr3:3p13		 likely benign
NM_001126128.2(PROK2):c.218G>A (p.Arg73His) single nucleotide variant PROK2-related condition [RCV003893861] Chr3:71781471 [GRCh38]
Chr3:71830622 [GRCh37]
Chr3:3p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:816
Count of miRNA genes:345
Interacting mature miRNAs:369
Transcripts:ENST00000295619, ENST00000353065
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G54373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37371,821,472 - 71,821,851UniSTSGRCh37
Celera371,752,043 - 71,752,422UniSTS
Cytogenetic Map3p13UniSTS
HuRef371,823,455 - 71,823,834UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 30 30
Medium 19 740 8 6 976 5 10 17 3 1 336 337 1 56 4
Low 674 709 686 238 215 203 1039 502 1049 100 361 687 36 750 462 1
Below cutoff 1485 1283 839 275 243 174 2805 1527 2446 221 570 394 101 386 1994

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000295619   ⟹   ENSP00000295619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl371,771,655 - 71,785,148 (-)Ensembl
RefSeq Acc Id: ENST00000353065   ⟹   ENSP00000295618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl371,771,656 - 71,785,206 (-)Ensembl
RefSeq Acc Id: NM_001126128   ⟹   NP_001119600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38371,771,655 - 71,785,148 (-)NCBI
GRCh37371,820,806 - 71,834,357 (-)ENTREZGENE
HuRef371,822,789 - 71,836,340 (-)ENTREZGENE
CHM1_1371,772,193 - 71,785,741 (-)NCBI
T2T-CHM13v2.0371,810,890 - 71,824,379 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021935   ⟹   NP_068754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38371,771,655 - 71,785,148 (-)NCBI
GRCh37371,820,806 - 71,834,357 (-)ENTREZGENE
Build 36371,903,497 - 71,916,902 (-)NCBI Archive
HuRef371,822,789 - 71,836,340 (-)ENTREZGENE
CHM1_1371,772,193 - 71,785,741 (-)NCBI
T2T-CHM13v2.0371,810,890 - 71,824,379 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_068754   ⟸   NM_021935
- Peptide Label: isoform b precursor
- UniProtKB: Q9HC23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001119600   ⟸   NM_001126128
- Peptide Label: isoform a precursor
- UniProtKB: Q53Z79 (UniProtKB/Swiss-Prot),   Q6ISR0 (UniProtKB/Swiss-Prot),   Q9HC23 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000295619   ⟸   ENST00000295619
RefSeq Acc Id: ENSP00000295618   ⟸   ENST00000353065

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HC23-F1-model_v2 AlphaFold Q9HC23 1-129 view protein structure

Promoters
RGD ID:6864992
Promoter ID:EPDNEW_H5661
Type:multiple initiation site
Name:PROK2_1
Description:prokineticin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38371,785,148 - 71,785,208EPDNEW
RGD ID:6801452
Promoter ID:HG_KWN:45520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   NB4
Transcripts:NM_001126128,   NM_021935
Position:
Human AssemblyChrPosition (strand)Source
Build 36371,916,921 - 71,917,421 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18455 AgrOrtholog
COSMIC PROK2 COSMIC
Ensembl Genes ENSG00000163421 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295619 ENTREZGENE
  ENST00000295619.4 UniProtKB/Swiss-Prot
  ENST00000353065 ENTREZGENE
  ENST00000353065.7 UniProtKB/Swiss-Prot
Gene3D-CATH Lipase, subunit A UniProtKB/Swiss-Prot
GTEx ENSG00000163421 GTEx
HGNC ID HGNC:18455 ENTREZGENE
Human Proteome Map PROK2 Human Proteome Map
InterPro Prokineticin UniProtKB/Swiss-Prot
  Prokineticin_domain UniProtKB/Swiss-Prot
KEGG Report hsa:60675 UniProtKB/Swiss-Prot
NCBI Gene 60675 ENTREZGENE
OMIM 607002 OMIM
PANTHER PROKINETICIN-2 UniProtKB/Swiss-Prot
  PTHR18821 UniProtKB/Swiss-Prot
Pfam Prokineticin UniProtKB/Swiss-Prot
PharmGKB PA38540 PharmGKB
Superfamily-SCOP Colipase-like UniProtKB/Swiss-Prot
UniProt PROK2_HUMAN UniProtKB/Swiss-Prot
  Q53Z79 ENTREZGENE
  Q6ISR0 ENTREZGENE
  Q9HC23 ENTREZGENE
UniProt Secondary Q53Z79 UniProtKB/Swiss-Prot
  Q6ISR0 UniProtKB/Swiss-Prot