Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607002 18455 ENSG00000163421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 4 with or without anosmia Pathogenic rs587777864, rs554675432 RCV000144711
RCV000003786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation Pathogenic rs554675432 RCV003991567
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with spermatogenesis disorder Likely pathogenic rs201632855, rs200922174 RCV003991640
RCV003991641
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROK2-related disorder Pathogenic; Likely pathogenic rs554675432, rs991290069 RCV003892107
RCV003917351
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amenorrhea Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERALGESIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32348224 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic Hemolytic anemia Pubtator 5666119 Associate
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27887936, 29537336
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 20576534
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29643149
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 18300343 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Merkel Cell Merkel cell carcinoma Pubtator 24496457 Associate
★☆☆☆☆
Found in Text Mining only