PRLH

prolactin releasing hormone, the group of Neuropeptides

Basic information

Region (hg38): 2:237566573-237567175

Links

ENSG00000071677 ∙ NCBI:51052 ∙ OMIM:602663 ∙ HGNC:17945 ∙ Uniprot:P81277 ∙ 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 PRLH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRLH 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						0
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in PRLH

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

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

Position	Type	Phenotype	Significance	ClinVar
2-237566629-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-237566652-C-T		not specified	Uncertain significance (Dec 27, 2022)
2-237566667-A-T		not specified	Uncertain significance (Aug 14, 2023)
2-237567026-C-G		not specified	Uncertain significance (Apr 07, 2022)
2-237567062-G-A		not specified	Uncertain significance (Sep 20, 2023)
2-237567063-G-C		not specified	Uncertain significance (Dec 03, 2021)
2-237567095-G-T		not specified	Uncertain significance (Nov 09, 2021)
2-237567098-G-A		not specified	Uncertain significance (Feb 06, 2023)
2-237567107-C-G		not specified	Uncertain significance (Dec 16, 2021)
2-237567111-G-A		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRLH	protein_coding	protein_coding	ENST00000165524	2	602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.108	0.609	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.636	77	62.8	1.23	0.00000449	530
Missense in Polyphen		36	21.102	1.706		169
Synonymous	-1.20	34	26.2	1.30	0.00000163	208
Loss of Function	0.263	1	1.33	0.754	5.63e-8	15

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL.
• Pathway: Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i (Consensus)

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.402
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.0960
• hipred: N
• hipred_score: 0.123
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prlh
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue 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); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: tissue homeostasis;reduction of food intake in response to dietary excess;energy reserve metabolic process;lipid metabolic process;G protein-coupled receptor signaling pathway;response to glucose;regulation of signaling receptor activity;response to insulin;regulation of multicellular organism growth;fat cell differentiation;autonomic nervous system development
• Cellular component: extracellular region;cytoplasm
• Molecular function: hormone activity;neuropeptide hormone activity;prolactin-releasing peptide receptor binding