OPRK1

opioid receptor kappa 1, the group of Opioid receptors

Basic information

Region (hg38): 8:53225723-53251637

Links

ENSG00000082556 ∙ NCBI:4986 ∙ OMIM:165196 ∙ HGNC:8154 ∙ Uniprot:P41145 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OPRK1 gene.

• Inborn genetic diseases (13 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OPRK1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			12		2	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	13	2	4

Variants in OPRK1

This is a list of pathogenic ClinVar variants found in the OPRK1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-53229320-C-T			Benign (Aug 16, 2018)
8-53229425-G-A		not specified	Uncertain significance (Oct 26, 2022)
8-53229442-A-G		not specified	Uncertain significance (Jan 29, 2024)
8-53229481-T-C		not specified	Uncertain significance (Jul 11, 2022)
8-53229492-G-A			Benign (Aug 16, 2018)
8-53229529-T-C		not specified	Uncertain significance (Jun 07, 2023)
8-53229588-G-A			Benign (Apr 19, 2018)
8-53229675-G-A			Likely benign (May 17, 2018)
8-53229717-G-C		not specified	Uncertain significance (Jul 27, 2021)
8-53234771-T-C			Benign (Jul 13, 2018)
8-53234959-A-G		not specified	Uncertain significance (Jan 03, 2022)
8-53235074-A-G		not specified	Uncertain significance (Dec 03, 2021)
8-53235109-T-C		not specified	Uncertain significance (May 27, 2022)
8-53250820-C-G		not specified	Uncertain significance (Sep 20, 2023)
8-53250894-C-G		not specified	Uncertain significance (Jul 14, 2023)
8-53250921-G-A			Likely benign (Jun 19, 2018)
8-53250943-C-A		not specified	Uncertain significance (Jul 13, 2021)
8-53250967-G-C		not specified	Uncertain significance (Mar 03, 2022)
8-53250989-C-G		not specified	Uncertain significance (Sep 16, 2021)
8-53251000-C-T		not specified	Uncertain significance (Aug 08, 2023)
8-53251003-G-A		not specified	Uncertain significance (May 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OPRK1	protein_coding	protein_coding	ENST00000265572	3	25974

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000406	0.638	125653	0	95	125748	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.464	216	236	0.915	0.0000133	2506
Missense in Polyphen		99	122.32	0.80936		1327
Synonymous	-0.680	102	93.6	1.09	0.00000517	771
Loss of Function	0.836	8	11.0	0.728	5.57e-7	122

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000467	0.000467
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000555	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000627	0.000624
Middle Eastern	0.0000555	0.0000544
South Asian	0.000164	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions. {ECO:0000269|PubMed:12004055, ECO:0000269|PubMed:22437504, ECO:0000269|PubMed:7624359, ECO:0000269|PubMed:8060324}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);Nalbuphine Action Pathway;Peptide GPCRs;Chemical Compounds to monitor Proteins;MECP2 and Associated Rett Syndrome;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;repression of pain sensation by the transcriptional regulator dream;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.244

Intolerance Scores

• loftool: 0.560
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.2

Haploinsufficiency Scores

• pHI: 0.148
• hipred: Y
• hipred_score: 0.766
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Oprk1
• Phenotype: reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: immune response;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;chemical synaptic transmission;sensory perception;locomotory behavior;response to radiation;sensory perception of pain;adenylate cyclase-inhibiting opioid receptor signaling pathway;response to insulin;positive regulation of dopamine secretion;negative regulation of luteinizing hormone secretion;opioid receptor signaling pathway;positive regulation of locomotion;maternal behavior;eating behavior;response to morphine;response to estrogen;estrous cycle;response to ethanol;regulation of saliva secretion;behavioral response to cocaine;sensory perception of temperature stimulus;defense response to virus;regulation of sensory perception of pain;cellular response to lipopolysaccharide;cellular response to glucose stimulus;positive regulation of p38MAPK cascade;positive regulation of potassium ion transmembrane transport;response to acrylamide;positive regulation of eating behavior;conditioned place preference
• Cellular component: nucleus;cytosol;plasma membrane;integral component of plasma membrane;integral component of membrane;integral component of synaptic vesicle membrane;dendrite;perikaryon;axon terminus;integral component of postsynaptic membrane;integral component of presynaptic membrane
• Molecular function: G protein-coupled receptor activity;opioid receptor activity;protein binding;receptor serine/threonine kinase binding;dynorphin receptor activity;peptide binding;neuropeptide binding