Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60675
Gene name	Prokineticin 2
Gene symbol	PROK2
Synonyms (NCBI Gene)	BV8HH4KAL4MIT1PK2
Chromosome	3
Chromosome location	3p13
Summary	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 precurso

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434272	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs554675432	T>-	Pathogenic	Stop gained, coding sequence variant
rs587777864	C>T	Pathogenic	Missense variant, coding sequence variant
rs768413190	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027934	hsa-miR-96-5p	Sequencing	20371350
MIRT640996	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT640995	hsa-miR-4729	HITS-CLIP	23824327
MIRT640994	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT640993	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT640992	hsa-miR-5696	HITS-CLIP	23824327
MIRT640996	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT640995	hsa-miR-4729	HITS-CLIP	23824327
MIRT640994	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT640993	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT640992	hsa-miR-5696	HITS-CLIP	23824327
MIRT1265057	hsa-miR-1224-5p	CLIP-seq
MIRT1265058	hsa-miR-335	CLIP-seq
MIRT1265059	hsa-miR-3915	CLIP-seq
MIRT1265060	hsa-miR-3928	CLIP-seq
MIRT1265061	hsa-miR-3978	CLIP-seq
MIRT1265062	hsa-miR-451b	CLIP-seq
MIRT1265063	hsa-miR-4689	CLIP-seq
MIRT1265064	hsa-miR-890	CLIP-seq
MIRT1265065	hsa-miR-1304	CLIP-seq
MIRT1265066	hsa-miR-3190	CLIP-seq
MIRT1265067	hsa-miR-7	CLIP-seq
MIRT2304446	hsa-miR-129-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	12604792
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001664	Function	G protein-coupled receptor binding	TAS	12728244
GO:0001935	Process	Endothelial cell proliferation	IBA
GO:0001935	Process	Endothelial cell proliferation	IDA	12604792
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	12466223
GO:0006935	Process	Chemotaxis	IDA	12604792
GO:0006954	Process	Inflammatory response	NAS	11259612
GO:0007186	Process	G protein-coupled receptor signaling pathway	NAS	11259612
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	TAS	12728244
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IMP	10580115
GO:0007623	Process	Circadian rhythm	IEA
GO:0019233	Process	Sensory perception of pain	TAS	12728244
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12604792
GO:0045987	Process	Positive regulation of smooth muscle contraction	IDA	11259612
GO:0048511	Process	Rhythmic process	IEA

MIM	HGNC	e!Ensembl
607002	18455	ENSG00000163421

Q9HC23

Protein name

Prokineticin-2 (PK2) (Protein Bv8 homolog)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06607	Prokineticin	1 → 126	Prokineticin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the testis and, at low levels, in the small intestine.

Sequence

MRSLCCAPLLLLLLLPPLLLTPRAGDAAVITGACDKDSQCGGGMCCAVSIWVKSIRICTP
MGKLGDSCHPLTRKNNFGNGRQERRKRKRSKRKKEVPFFGRRMHHTCPCLPGLACLRTSF
NRFICLAQK

Sequence length

129

Interactions

View interactions

	Reactome
			Peptide ligand-binding receptors G alpha (q) signalling events

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypogonadotropic hypogonadism 4 with or without anosmia	Pathogenic	rs587777864, rs554675432	RCV000144711 RCV000003786
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Pathogenic	rs554675432	RCV003991567
Male infertility with spermatogenesis disorder	Likely pathogenic	rs201632855, rs200922174	RCV003991640 RCV003991641
PROK2-related disorder	Pathogenic; Likely pathogenic	rs554675432, rs991290069	RCV003892107 RCV003917351

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amenorrhea	Uncertain significance	rs1282942039	RCV001849742
Disorder of sexual differentiation	Uncertain significance	rs2108200139	RCV001568331
Hypogonadotropic hypogonadism	Conflicting classifications of pathogenicity; Uncertain significance	rs121434272, rs1192163413	RCV006261932 RCV004584172
See cases	Uncertain significance	rs2050202948	RCV004584477

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	24496457
Acute Coronary Syndrome	Associate	34753383
Alzheimer Disease	Associate	32348224
Anemia Hemolytic	Associate	5666119
Aneurysm Ruptured	Associate	19111481
Blepharophimosis	Associate	19332160
Carcinoma Hepatocellular	Inhibit	18300343
Carcinoma Merkel Cell	Associate	24496457
Cartilage Diseases	Associate	38057865
Chronobiology Disorders	Associate	24423319
Congenital anosmia	Associate	29255181
Contracture	Associate	19332160
Cryptorchidism	Associate	27561106
Cystic Fibrosis	Associate	26047640
Dwarfism Pituitary	Associate	37338295
Fatigue	Associate	23324479
Glioma	Associate	30803356, 35845958
Granulomatosis with Polyangiitis	Associate	9808568
Growth Disorders	Associate	37338295
Hemochromatosis	Associate	40508017
Huntington Disease	Associate	25626709
Hyperalgesia	Stimulate	38057865
Hypogonadism	Associate	28209183, 37108593, 40508017
Hypospadias	Associate	28209183
Idiopathic Hypogonadotropic Hypogonadism	Associate	21454486, 24002956, 35090434, 36700485
Immunologic Deficiency Syndromes	Associate	12515721, 24423319
Infertility	Associate	21454486, 27561106
Inflammation	Associate	19111481
Kallmann Syndrome	Associate	17054399, 18723471, 18985070, 21454486, 21682876, 22031817, 22035731, 22399515, 23533228, 24776628, 29022642, 29255181, 37108593
Language Development Disorders	Associate	19332160
Liver Neoplasms	Associate	18300343
Lupus Erythematosus Systemic	Associate	18811695
Lymphopenia	Associate	12515721
Microphthalmia Isolated 1	Associate	24423319
Muscle Hypertonia	Associate	19332160
Neoplasms	Inhibit	18300343
Neoplasms	Associate	24496457, 32887509, 35845958
Neoplasms Squamous Cell	Associate	34477137
Obesity	Associate	36130209
Olfaction Disorders	Associate	36549578
Polyarteritis Nodosa	Associate	9808568
Post Acute COVID 19 Syndrome	Associate	36549578
Puberty Delayed	Associate	21454486, 27561106
Reflex Abnormal	Associate	29022642
Thymoma	Associate	12515721
Tuberculosis	Associate	36476775
Uterine Cervical Neoplasms	Stimulate	32887509
Vasculitis	Associate	9808568

PROK2 (prokineticin 2)