SLC7A14

Summary

SLC7A14 (solute carrier family 7 member 14, HGNC:29326) is a protein-coding gene on chromosome 3q26.2, encoding Solute carrier family 7 member 14 (Q8TBB6). Imports 4-aminobutanoate (GABA) into lysosomes.

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.

Source: NCBI Gene 57709 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa 68 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 576 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 35
• MANE Select transcript: NM_020949

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29326
Approved symbol	SLC7A14
Name	solute carrier family 7 member 14
Location	3q26.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1613, PPP1R142
Ensembl gene	ENSG00000013293
Ensembl biotype	protein_coding
OMIM	615720
Entrez	57709

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000231706, ENST00000466168

RefSeq mRNA: 1 — MANE Select: NM_020949 NM_020949

CCDS: CCDS33892

Canonical transcript exons

ENST00000231706 — 8 exons

Exon	Start	End
ENSE00000780305	170483314	170483522
ENSE00000780306	170486222	170486368
ENSE00000826192	170480289	170481166
ENSE00000826193	170498667	170498884
ENSE00000826194	170501109	170501345
ENSE00001214061	170459548	170467377
ENSE00001297017	170526633	170527088
ENSE00001382843	170585911	170586075

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 92.78.

FANTOM5 (CAGE): breadth broad, TPM avg 3.8584 / max 120.3925, expressed in 467 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45553	2.7411	430
45554	0.8225	180
45552	0.1614	91
45555	0.1334	68

Top tissues by expression

228 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	92.78	gold quality
postcentral gyrus	UBERON:0002581	91.63	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.60	gold quality
middle temporal gyrus	UBERON:0002771	89.99	gold quality
parietal lobe	UBERON:0001872	89.81	gold quality
superior frontal gyrus	UBERON:0002661	87.96	gold quality
pons	UBERON:0000988	87.04	gold quality
superior vestibular nucleus	UBERON:0007227	85.42	gold quality
entorhinal cortex	UBERON:0002728	84.62	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.67	gold quality
prefrontal cortex	UBERON:0000451	82.70	gold quality
lateral nuclear group of thalamus	UBERON:0002736	82.26	gold quality
medulla oblongata	UBERON:0001896	81.87	gold quality
subthalamic nucleus	UBERON:0001906	81.26	gold quality
lateral globus pallidus	UBERON:0002476	80.96	gold quality
frontal cortex	UBERON:0001870	80.49	gold quality
hypothalamus	UBERON:0001898	80.40	gold quality
Ammon’s horn	UBERON:0001954	80.36	gold quality
cerebellum	UBERON:0002037	79.96	gold quality
dorsal plus ventral thalamus	UBERON:0001897	79.36	gold quality
globus pallidus	UBERON:0001875	79.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.31	gold quality
cerebral cortex	UBERON:0000956	79.31	gold quality
cerebellar cortex	UBERON:0002129	79.26	gold quality
substantia nigra pars reticulata	UBERON:0001966	79.23	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.20	gold quality
spinal cord	UBERON:0002240	79.16	gold quality
cerebellar hemisphere	UBERON:0002245	79.08	gold quality
medial globus pallidus	UBERON:0002477	79.06	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.04	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	199.16
E-ANND-3	yes	6.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

321 targeting SLC7A14, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788

Literature-anchored findings (GeneRIF, showing 5)

• A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. (PMID:22787143)
• Data suggests that cationic transporter SLC7A14 has an important role in retinal development and visual function. (PMID:24670872)
• The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients. (PMID:27028480)
• We applied Targeted exome sequencing to the molecular diagnosis of patients with inherited retinal dystrophy and for the first time identified SLC7A14 mutations in two unrelated families with retinitis pigmentosa and Leber congenital amaurosis separately. (PMID:30924391)
• Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction. (PMID:35394837)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc7a14a	ENSDARG00000010816
danio_rerio	slc7a14b	ENSDARG00000079231
mus_musculus	Slc7a14	ENSMUSG00000069072
rattus_norvegicus	Slc7a14	ENSRNOG00000028097
drosophila_melanogaster	CG12531	FBGN0031064
caenorhabditis_elegans		WBGENE00000005
caenorhabditis_elegans	aat-9	WBGENE00000010
caenorhabditis_elegans		WBGENE00015197
caenorhabditis_elegans		WBGENE00017747

Paralogs (12): SLC7A2 (ENSG00000003989), SLC7A9 (ENSG00000021488), SLC7A8 (ENSG00000092068), SLC7A4 (ENSG00000099960), SLC7A6 (ENSG00000103064), SLC7A5 (ENSG00000103257), SLC7A10 (ENSG00000130876), SLC7A1 (ENSG00000139514), SLC7A11 (ENSG00000151012), SLC7A7 (ENSG00000155465), SLC7A13 (ENSG00000164893), SLC7A3 (ENSG00000165349)

Protein

Protein identifiers

Solute carrier family 7 member 14 — Q8TBB6 (reviewed: Q8TBB6)

Alternative names: Gamma-aminobutyric acid transporter SLC7A14

All UniProt accessions (1): Q8TBB6

UniProt curated annotations — full annotation on UniProt →

Function. Imports 4-aminobutanoate (GABA) into lysosomes. May act as a GABA sensor that regulates mTORC2-dependent INS signaling and gluconeogenesis. The transport mechanism and substrate selectivity remain to be elucidated.

Subcellular location. Lysosome membrane.

Tissue specificity. Expressed in skin fibroblasts.

Disease relevance. Retinitis pigmentosa 68 (RP68) [MIM:615725] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.

RefSeq proteins (1): NP_066000* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002293	AA/rel_permease1	Family
IPR029485	CAT_C	Domain

Pfam: PF13520, PF13906

Catalyzed reactions (Rhea), 1 shown:

• 4-aminobutanoate(in) = 4-aminobutanoate(out) (RHEA:35035)

UniProt features (34 total): transmembrane region 15, sequence variant 8, modified residue 5, glycosylation site 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBB6-F1	72.68	0.37

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 465, 468, 488, 757, 769

Glycosylation sites (2): 282, 676

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): GOCC_VACUOLAR_MEMBRANE, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, chr3q26, GOBP_ORGANIC_ACID_TRANSPORT, CATTTCA_MIR203, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_ACIDIC_AMINO_ACID_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOMF_AMINO_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOCARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GSE13522_WT_VS_IFNG_KO_SKIN_DN, GOMF_TRANSPORTER_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3

GO Biological Process (4): amino acid transport (GO:0006865), gamma-aminobutyric acid import (GO:0051939), amino acid transmembrane transport (GO:0003333), transmembrane transport (GO:0055085)

GO Molecular Function (4): amino acid transmembrane transporter activity (GO:0015171), gamma-aminobutyric acid transmembrane transporter activity (GO:0015185), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)

GO Cellular Component (6): nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), cytosol (GO:0005829), plasma membrane (GO:0005886), lysosome (GO:0005764), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
transport	2
gamma-aminobutyric acid transport	2
transmembrane transport	2
acidic amino acid transport	1
amino acid transport	1
cellular process	1
amino acid transmembrane transport	1
transmembrane transporter activity	1
amino acid transmembrane transporter activity	1
carboxylic acid transmembrane transporter activity	1
binding	1
transporter activity	1
nuclear lumen	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
membrane	1
cell periphery	1
lytic vacuole	1

Protein interactions and networks

STRING

1670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC7A14	RP9	Q8TA86	462
SLC7A14	GALNT3	Q14435	454
SLC7A14	SLC3A1	Q07837	441
SLC7A14	SLC3A2	P08195	424
SLC7A14	RPL22L1	Q6P5R6	420
SLC7A14	SLC35C1	Q96A29	407
SLC7A14	ANKS4B	Q8N8V4	406
SLC7A14	CAPN9	O14815	402
SLC7A14	CYP26B1	Q9NR63	387
SLC7A14	RPGR	Q92834	387
SLC7A14	CERKL	Q49MI3	383
SLC7A14	REEP6	Q96HR9	380
SLC7A14	FAM131C	Q96AQ9	379
SLC7A14	RP1L1	Q8IWN7	378
SLC7A14	PRCD	Q00LT1	373

IntAct

144 interactions, top by confidence:

A	B	Type	Score
SLC7A14	YIPF6	psi-mi:“MI:0915”(physical association)	0.670
TECR	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
ADGRE2	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
SMCO4	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
CMTM5	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
LTC4S	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	FATE1	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
VAMP2	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
PRB1	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
BNIP2	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	UBIAD1	psi-mi:“MI:0915”(physical association)	0.560
AGTRAP	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
NSG1	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
ZFPL1	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	TECR	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	YIPF4	psi-mi:“MI:0915”(physical association)	0.560
SLC7A14	VKORC1	psi-mi:“MI:0915”(physical association)	0.560
EOGT	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
CCL4L1	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (155): SLC7A14 (Protein-RNA), DCBLD2 (Two-hybrid), MGLL (Two-hybrid), SCARF1 (Two-hybrid), FKBP7 (Two-hybrid), SCD (Two-hybrid), ERMP1 (Two-hybrid), TECR (Two-hybrid), BET1 (Two-hybrid), C1GALT1 (Two-hybrid), IL10RA (Two-hybrid), BNIP1 (Two-hybrid), FAM20B (Two-hybrid), YIPF4 (Two-hybrid), UBIAD1 (Two-hybrid)

ESM2 similar proteins: A0JNI9, A8I499, B0UYF2, B3TP03, B5D5N9, O08812, O54701, O64759, O80668, P18581, P30823, P30825, P31637, P52569, P53793, P53794, P70423, Q08469, Q09143, Q09573, Q28677, Q28E01, Q5PR34, Q5R9C2, Q5RK27, Q63632, Q63633, Q6A4L1, Q6DCE8, Q80UP8, Q84MA5, Q8BG16, Q8BXR1, Q8GYB4, Q8TBB6, Q8W4K3, Q8WY07, Q91V14, Q924N4, Q9ASS7

Diamond homologs: A0JNI9, A8I499, B0UYF2, B3TP03, B5D5N9, O07576, O08812, O43246, O64759, P18581, P30823, P30825, P52569, P70423, Q09143, Q5PR34, Q6DCE8, Q797A7, Q84MA5, Q8BLQ7, Q8BXR1, Q8GYB4, Q8TBB6, Q8W4K3, Q8WY07, Q9C5D6, Q9LZ20, Q9SHH0, Q9SQZ0, Q8MH63, Q9ASS7, Q9GIP4, A0A1D8PPG4, A0A1D8PPI5, A2RHI9, P43059, P37103, A1L3M3, D3ZMM8, O34739

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

576 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	359
Likely benign	184
Benign	15

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
126447	NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val)	Pathogenic
126449	NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val)	Pathogenic
393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	Pathogenic
3027594	NM_020949.3(SLC7A14):c.1778A>G (p.Gln593Arg)	Likely pathogenic
3027595	NM_020949.3(SLC7A14):c.1682C>T (p.Thr561Met)	Likely pathogenic

SpliceAI

1526 predictions. Top by Δscore:

Variant	Effect	Δscore
3:170486216:ACTT:A	donor_loss	1.0000
3:170486218:TTA:T	donor_loss	1.0000
3:170486219:TAC:T	donor_loss	1.0000
3:170486220:A:AC	donor_gain	1.0000
3:170486221:C:CT	donor_gain	1.0000
3:170486221:CA:C	donor_gain	1.0000
3:170486221:CAG:C	donor_gain	1.0000
3:170486221:CAGA:C	donor_gain	1.0000
3:170498665:ACC:A	donor_gain	1.0000
3:170498666:CCC:C	donor_gain	1.0000
3:170501343:CGC:C	acceptor_gain	1.0000
3:170467080:T:C	donor_gain	0.9900
3:170467218:T:TA	donor_gain	0.9900
3:170467254:T:TA	donor_gain	0.9900
3:170467374:AGACC:A	acceptor_loss	0.9900
3:170467375:GACCT:G	acceptor_loss	0.9900
3:170467378:CT:C	acceptor_loss	0.9900
3:170467379:T:G	acceptor_loss	0.9900
3:170480283:GCTTA:G	donor_loss	0.9900
3:170480284:CTTAC:C	donor_loss	0.9900
3:170480285:TTACC:T	donor_loss	0.9900
3:170480286:T:TA	donor_loss	0.9900
3:170480287:A:T	donor_loss	0.9900
3:170480287:AC:A	donor_gain	0.9900
3:170480288:C:A	donor_loss	0.9900
3:170480288:CC:C	donor_gain	0.9900
3:170480288:CCCA:C	donor_gain	0.9900
3:170481164:AACC:A	acceptor_loss	0.9900
3:170481167:C:CC	acceptor_gain	0.9900
3:170481168:T:A	acceptor_loss	0.9900

AlphaMissense

5019 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:170481035:A:G	L416P	1.000
3:170481062:A:G	L407P	1.000
3:170483517:G:C	S304R	1.000
3:170483517:G:T	S304R	1.000
3:170483519:T:G	S304R	1.000
3:170486313:G:T	A272D	1.000
3:170486322:T:A	D269V	1.000
3:170486324:A:C	F268L	1.000
3:170486324:A:T	F268L	1.000
3:170486326:A:G	F268L	1.000
3:170486342:G:C	F262L	1.000
3:170486342:G:T	F262L	1.000
3:170486344:A:G	F262L	1.000
3:170486345:G:C	C261W	1.000
3:170486346:C:T	C261Y	1.000
3:170486356:C:G	A258P	1.000
3:170486359:C:G	G257R	1.000
3:170486359:C:T	G257R	1.000
3:170501234:A:G	L139P	1.000
3:170501241:A:G	W137R	1.000
3:170501241:A:T	W137R	1.000
3:170501243:C:T	G136D	1.000
3:170501244:C:G	G136R	1.000
3:170501267:C:A	G128V	1.000
3:170501267:C:T	G128E	1.000
3:170501281:G:C	S123R	1.000
3:170501281:G:T	S123R	1.000
3:170501283:T:G	S123R	1.000
3:170501292:A:G	Y120H	1.000
3:170501300:C:T	G117E	1.000

dbSNP variants (sampled 300 via entrez): RS1000018368 (3:170586994 T>C), RS1000056779 (3:170524650 G>A), RS1000065700 (3:170472135 G>A), RS1000073967 (3:170539238 G>T), RS1000097554 (3:170475643 G>A), RS1000137120 (3:170491173 T>G), RS1000177980 (3:170481223 G>A), RS1000244026 (3:170500870 C>A), RS1000249361 (3:170477822 T>C), RS1000256608 (3:170509626 A>G), RS1000298903 (3:170568392 A>G), RS1000301901 (3:170523033 C>T), RS1000303135 (3:170493883 A>T), RS1000312414 (3:170581808 G>A), RS1000342243 (3:170582128 T>C)

Disease associations

OMIM: gene MIM:615720 | disease phenotypes: MIM:615725, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 68	Strong	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant

Mondo (4): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 68 (MONDO:0014323), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608)

Orphanet (2): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

35 total (30 of 35 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001123	Visual field defect
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss
HP:0008046	Abnormal retinal vascular morphology
HP:0011463	Childhood onset
HP:0011505	Cystoid macular edema

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007241_11	Obesity (extreme)	1.000000e-06
GCST008181_12	Spontaneous preterm birth without premature rupture of membranes	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007041	obese body mass index status
EFO:0006917	spontaneous preterm birth

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC7 family

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
3-iodothyronamine	affects uptake	1
quinocetone	decreases expression	1
Decitabine	affects expression	1
Arsenic Trioxide	increases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects expression	1
Diethylhexyl Phthalate	decreases expression	1
Lead	affects expression	1
Polychlorinated Biphenyls	affects expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Serpentine	increases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 induced pluripotent stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A1XL	WMUi003-A	Induced pluripotent stem cell	Male
CVCL_A1XM	WMUi004-A	Induced pluripotent stem cell	Male
CVCL_A1XN	WMUi005-A	Induced pluripotent stem cell	Female
CVCL_E0P2	Ubigene HeLa SLC7A14 KO	Cancer cell line	Female

Clinical trials (associated diseases)

259 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa