PROK2 Gene - Prokineticin 2
PROK2: A key regulator of olfactory bulb development, circadian rhythm, and neuroendocrine function
Gene Information Card
| Symbol | PROK2 |
|---|---|
| Full Name | prokineticin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p13 |
| NCBI Gene ID | 60675 ncbi.nlm.nih.gov/gene/60675 |
| Ensembl ID | ENSG00000163431 |
| UniProt ID | Q9HC23 |
| OMIM ID | 607002 |
| HGNC ID | 18455 |
| Aliases | PK2, MIT1, KAL4, BV8 |
Description
PROK2 (prokineticin 2) encodes a secreted protein that belongs to the prokineticin family. This protein is involved in multiple biological processes including olfactory bulb neurogenesis, circadian rhythm regulation, and neuroendocrine signaling. Mutations in PROK2 are associated with Kallmann syndrome and idiopathic hypogonadotropic hypogonadism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kallmann syndrome | Loss-of-function mutations impair PROK2 signaling, disrupting GnRH neuron migration and olfactory bulb development | OMIM: 607002; ClinVar |
| Idiopathic hypogonadotropic hypogonadism | Deficient PROK2 leads to impaired gonadotropin-releasing hormone secretion | OMIM: 607002; NCBI Gene |
| Normosmic hypogonadotropic hypogonadism | PROK2 mutations can cause isolated GnRH deficiency without anosmia | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain - cerebellum | 8.3 | Low |
| Brain - cortex | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Adrenal gland | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 3.2 | Neuroblastoma cell line |
| HEK293 | 2.1 | Embryonic kidney cells |
| HepG2 | 1.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.70G>A (p.Gly24Arg) | Missense | Rare | Loss of function; associated with Kallmann syndrome |
| c.217C>T (p.Arg73Cys) | Missense | Rare | Loss of function; impaired receptor binding |
| c.163_164del (p.Leu55fs) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most PROK2 mutations are loss-of-function, leading to reduced or abolished protein activity, causing Kallmann syndrome and hypogonadotropic hypogonadism.
Gain of Function (GOF)
No gain-of-function mutations reported for PROK2.
Dominant Negative (DN)
No dominant-negative mutations reported for PROK2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Prokineticin receptor signaling pathway
• GPCR downstream signaling
• Circadian entrainment
Protein Summary
Prokineticin 2 (PROK2) is a secreted 81-amino acid protein containing a conserved AVITGA domain and 10 cysteine residues forming five disulfide bonds. It binds to prokineticin receptors (PROKR1 and PROKR2) to activate G-protein-coupled signaling pathways, regulating neuronal migration, circadian rhythms, and neuroendocrine function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PROK2 Knockout HEK293 Cell Line | EDJ-KQ14899 | Human | 60675 | Details Get a Quote |
| PROK2 Knockout HeLa Cell Line | EDJ-KQ56985 | Human | 60675 | Details Get a Quote |
| PROK2 Knockout A-549 Cell Line | EDJ-KQ65488 | Human | 60675 | Details Get a Quote |
| PROK2 Knockout HCT 116 Cell Line | EDJ-KQ73926 | Human | 60675 | Details Get a Quote |
