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…

MultiplemechanismARLOEUF 0.541 OMIM phenotype

Clinical Summary— SLC7A14

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.

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ClinVar Variants

4 unique Pathogenic / Likely Pathogenic· 383 VUS of 612 total submissions

Explore recent and relevant literature in Research Assistant →

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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

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongSLC7A14-related retinitis pigmentosaOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.78top 25%

GOF

0.81top 10%

LOF

0.2092th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

612 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic2

VUS383

Likely Benign198

Benign16

Conflicting10

Pathogenic

Likely Pathogenic

383

VUS

198

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	2	0	0	2
Likely Pathogenic	0	2	0	0	2
VUS	18	352	8	5	383
Likely Benign	0	7	42	149	198
Benign	0	4	4	8	16
Conflicting	—				10
Total	18	367	54	162	611

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 25) ClinVar copy-number / structural variants overlap SLC7A14 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →