SLC7A14

Chr 3AR

solute carrier family 7 member 14

Also known as: PPP1R142

NCBI Gene: 57709 ENSG00000013293 UniProt: Q8TBB6 OMIM: 615720

This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 68MIM #615725

Clinical highlights

Gene–disease validity (ClinGen)

Disputed · retinitis pigmentosa 68 · AR · ClinGen 2026

evidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — SLC7A14

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.54LOEUF

pLI 0.022

Z-score 3.35

OE 0.30 (0.17–0.54)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.78Z-score

OE missense 0.90 (0.83–0.97)

405 obs / 451.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.30 (0.17–0.54)

0≤0.351.4

Missense OE?0.90 (0.83–0.97)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 8 / 26.7Missense obs/exp: 405 / 451.8Syn Z: -0.02

Background carrier burden — how many people carry a rare variant somewhere in SLC7A14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

945 rare PASS variants

Rare truncating (LoF)

1 in 2,800

86 rare PASS variants

Rare synonymous (reference)

1 in 88

425 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC7A14. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 81	1 in 2,700
South Asian	~43k	1 in 52	1 in 3,500
Remaining (unassigned)	~30k	1 in 47	1 in 4,300
European (Finnish)	~27k	1 in 140	none seen
Admixed American	~22k	1 in 61	≈ 1 in 5,600
African / African American	~21k	1 in 55	1 in 2,000
East Asian	~20k	1 in 83	1 in 790
Ashkenazi Jewish	~13k	1 in 160	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 56	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓