PRLH

Chr 2

prolactin releasing hormone

Also known as: PRH, PRRP

NCBI Gene: 51052 ENSG00000071677 UniProt: P81277 OMIM: 602663

Predicted to enable neuropeptide hormone activity and prolactin-releasing peptide receptor binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway; feeding behavior; and response to peptide hormone. Predicted to act upstream of or within several processes, including fat cell differentiation; reduction of food intake in response to dietary excess; and response to insulin. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.86

Clinical Summary— PRLH

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Population Constraint (gnomAD)

Low constraint (pLI 0.11) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

17 VUS of 18 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.86LOEUF

pLI 0.108

Z-score 0.26

OE 0.75 (0.23–1.86)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.64Z-score

OE missense 1.23 (1.02–1.48)

77 obs / 62.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.75 (0.23–1.86)

0≤0.351.4

Missense OE?1.23 (1.02–1.48)

0≤0.61.4

Synonymous OE?1.30

0≤1.21.6

LoF obs/exp: 1 / 1.3Missense obs/exp: 77 / 62.8Syn Z: -1.20

This gene — mechanism propensity

0.7326th %ile

GOF

0.5268th %ile

LOF

0.2679th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

18 submitted variants in ClinVar

ClinVar

Classification Summary

VUS17

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	17	0	17
Likely Benign	0	1	1
Benign	0	0	0
Total	17	1	18

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

78 pathogenic / likely-pathogenic (of 92) ClinVar copy-number / structural variants overlap PRLH — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →