RDH11

Summary

RDH11 (retinol dehydrogenase 11, HGNC:17964) is a protein-coding gene on chromosome 14q24.1, encoding Retinol dehydrogenase 11 (Q8TC12). Retinol dehydrogenase with a clear preference for NADP.

Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane.

Source: NCBI Gene 51109 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 11 total — 1 pathogenic
• Phenotypes (HPO): 36
• MANE Select transcript: NM_016026

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17964
Approved symbol	RDH11
Name	retinol dehydrogenase 11
Location	14q24.1
Locus type	gene with protein product
Status	Approved
Aliases	MDT1, SDR7C1, ARSDR1
Ensembl gene	ENSG00000072042
Ensembl biotype	protein_coding
OMIM	607849
Entrez	51109

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000381346, ENST00000428130, ENST00000553384, ENST00000553578, ENST00000553816, ENST00000554035, ENST00000554731, ENST00000556692, ENST00000557273, ENST00000557331, ENST00000557726, ENST00000887830, ENST00000887831, ENST00000887832, ENST00000887833, ENST00000887834, ENST00000887835, ENST00000936226, ENST00000936227

RefSeq mRNA: 2 — MANE Select: NM_016026 NM_001252650, NM_016026

CCDS: CCDS32104, CCDS58326

Canonical transcript exons

ENST00000381346 — 7 exons

Exon	Start	End
ENSE00001168201	67676800	67678423
ENSE00002531225	67695630	67695764
ENSE00003487485	67692438	67692593
ENSE00003499956	67685015	67685204
ENSE00003522680	67691140	67691244
ENSE00003546114	67692934	67693052
ENSE00003654169	67690212	67690421

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 71.3714 / max 459.3157, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143758	36.2209	1818
143757	34.7492	1812
143755	0.2660	143
143756	0.1353	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	98.44	gold quality
adrenal tissue	UBERON:0018303	98.14	gold quality
islet of Langerhans	UBERON:0000006	98.09	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.05	gold quality
nephron tubule	UBERON:0001231	98.01	gold quality
substantia nigra pars compacta	UBERON:0001965	97.49	gold quality
tibia	UBERON:0000979	97.37	gold quality
upper leg skin	UBERON:0004262	97.31	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.30	gold quality
corpus epididymis	UBERON:0004359	97.20	gold quality
mammalian vulva	UBERON:0000997	97.18	gold quality
visceral pleura	UBERON:0002401	97.09	gold quality
prostate gland	UBERON:0002367	96.94	gold quality
gingival epithelium	UBERON:0001949	96.89	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.81	gold quality
ventricular zone	UBERON:0003053	96.75	gold quality
renal medulla	UBERON:0000362	96.71	gold quality
germinal epithelium of ovary	UBERON:0001304	96.69	gold quality
stromal cell of endometrium	CL:0002255	96.61	gold quality
subthalamic nucleus	UBERON:0001906	96.59	gold quality
inferior olivary complex	UBERON:0002127	96.56	gold quality
kidney epithelium	UBERON:0004819	96.56	gold quality
pons	UBERON:0000988	96.36	gold quality
renal glomerulus	UBERON:0000074	96.28	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.14	gold quality
hair follicle	UBERON:0002073	96.13	gold quality
corpus callosum	UBERON:0002336	96.12	gold quality
medulla oblongata	UBERON:0001896	96.01	gold quality
spinal cord	UBERON:0002240	96.00	gold quality
inferior vagus X ganglion	UBERON:0005363	96.00	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	4.30
E-CURD-53	no	234.38
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting RDH11, 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-3646	100.00	73.56	5283
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4645-3P	99.76	69.33	993

Literature-anchored findings (GeneRIF, showing 7)

• Prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1). (PMID:12036956)
• The core protein of HCV can interact with translin protein. This can partly explain the molecular mechanism for hepatocellular carcinoma and lymphoma caused by HCV. (PMID:12532453)
• Expression pattern and high catalytic efficiency of RalR1 are consistent with the hypothesis that RalR1 contributes to the reduction of retinal in various human tissues. (PMID:14674758)
• RDH11 localizes to photoreceptor inner segments [review] (PMID:17249616)
• deleterious mutations in RDH11, an important enzyme for vision-related and systemic retinoic acid metabolism, cause a new syndrome with RP. (PMID:24916380)
• Data suggest that membrane anchoring of retinol dehydrogenase 11 (RDH11) is likely driven by its N-terminal segment. (PMID:25542782)
• Data indicate that ribosomal protein L11 (RPL11)-expressing cells proliferated more rapidly than the ribosomal protein L11 (RPL11)-expressing cells. (PMID:25829192)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rdh12	ENSDARG00000018069
mus_musculus	Rdh11	ENSMUSG00000066441
rattus_norvegicus	Rdh11	ENSRNOG00000054770

Paralogs (25): HSD17B6 (ENSG00000025423), HSD17B10 (ENSG00000072506), DHRS9 (ENSG00000073737), HSD17B2 (ENSG00000086696), HSD17B14 (ENSG00000087076), DHRS12 (ENSG00000102796), HSDL1 (ENSG00000103160), HSD17B1 (ENSG00000108786), RDH10 (ENSG00000121039), HSD17B3 (ENSG00000130948), HSD17B7 (ENSG00000132196), HSD17B4 (ENSG00000133835), RDH5 (ENSG00000135437), RDH16 (ENSG00000139547), RDH12 (ENSG00000139988), HSD17B12 (ENSG00000149084), BDH1 (ENSG00000161267), DHRS3 (ENSG00000162496), SDR9C7 (ENSG00000170426), HSD17B13 (ENSG00000170509), SDR16C5 (ENSG00000170786), HSD11B2 (ENSG00000176387), WWOX (ENSG00000186153), HSD17B11 (ENSG00000198189), HSD17B8 (ENSG00000204228)

Protein

Protein identifiers

Retinol dehydrogenase 11 — Q8TC12 (reviewed: Q8TC12)

Alternative names: Androgen-regulated short-chain dehydrogenase/reductase 1, HCV core-binding protein HCBP12, Prostate short-chain dehydrogenase/reductase 1, Retinal reductase 1, Short chain dehydrogenase/reductase family 7C member 1

All UniProt accessions (7): Q8TC12, A0A0S2Z583, G3V234, G3V2G6, G3V3K0, G3V510, H0YJ46

UniProt curated annotations — full annotation on UniProt →

Function. Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol. Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal. Has no dehydrogenase activity towards steroid.

Subunit / interactions. Interacts with SELENOF.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney, adrenal gland and fetal liver. Not detected in prostatic fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes.

Post-translational modifications. Not glycosylated.

Disease relevance. Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) [MIM:616108] A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. SELENOF decreases the retinol dehydrogenase activity.

Induction. By androgens in prostate cancer cells.

Pathway. Cofactor metabolism; retinol metabolism.

Miscellaneous. Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TC12-1	1	yes
Q8TC12-2	2
Q8TC12-3	3

RefSeq proteins (2): NP_001239579, NP_057110* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00106

Enzyme classification (BRENDA):

• EC 1.1.1.300 — NADP-retinol dehydrogenase (BRENDA: 11 organisms, 101 substrates, 7 inhibitors, 67 Km, 12 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALL-TRANS-RETINAL	0.0001–0.5	19
NADPH	0.0005–0.23	10
NADP+	0.0004–0.8	9
ALL-TRANS-RETINOL	0.0006–1.3	6
NADH	2.22–1300	4
ALL-TRANS-3-HYDROXYRETINAL	0.0032–0.0044	3
ESTRONE	0.0096–0.0307	3
NAD+	0.004–680	3
9-CIS-RETINAL	0.0001–0.19	2
RETINAL	0.007–0.13	2
11-CIS-RETINAL	0.0001	1
11-CIS-RETINOL	0.0016	1
13-CIS-RETINAL	0.62	1
9-CIS-RETINOL	0.0016	1

Catalyzed reactions (Rhea), 4 shown:

• all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+) (RHEA:25033)
• 11-cis-retinol + NADP(+) = 11-cis-retinal + NADPH + H(+) (RHEA:54912)
• 9-cis-retinol + NADP(+) = 9-cis-retinal + NADPH + H(+) (RHEA:54916)
• 13-cis-retinol + NADP(+) = 13-cis-retinal + NADPH + H(+) (RHEA:54920)

UniProt features (12 total): sequence conflict 3, binding site 2, splice variant 2, chain 1, transmembrane region 1, topological domain 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TC12-F1	91.53	0.79

Functional residue map

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

Catalytic / active sites (1): 202 (proton acceptor)

Ligand- & substrate-binding residues (2): 48–54; 177

Post-translational modifications (1): 112

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2453902	The canonical retinoid cycle in rods (twilight vision)
R-HSA-5365859	RA biosynthesis pathway
R-HSA-975634	Retinoid metabolism and transport

MSigDB gene sets: 287 (showing top): GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MARTINEZ_RB1_TARGETS_UP, GERY_CEBP_TARGETS, ONKEN_UVEAL_MELANOMA_UP, chr14q24, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, WANG_LMO4_TARGETS_DN, FISCHER_G2_M_CELL_CYCLE, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_DETOXIFICATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (6): retinoid metabolic process (GO:0001523), visual perception (GO:0007601), retinol metabolic process (GO:0042572), retinal metabolic process (GO:0042574), cellular detoxification of aldehyde (GO:0110095), lipid metabolic process (GO:0006629)

GO Molecular Function (7): all-trans-retinol dehydrogenase (NAD+) activity (GO:0004745), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), aldehyde dehydrogenase (NADP+) activity (GO:0033721), all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650), 11-cis-retinol dehydrogenase (NADP+) activity (GO:0102354), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (4): photoreceptor inner segment (GO:0001917), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Visual phototransduction	2
Signaling by Retinoic Acid	1
Metabolism of fat-soluble vitamins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
retinoid metabolic process	2
olefinic compound metabolic process	2
alcohol dehydrogenase (NADP+) activity	2
cellular anatomical structure	2
diterpenoid metabolic process	1
sensory perception of light stimulus	1
primary alcohol metabolic process	1
hormone metabolic process	1
aldehyde metabolic process	1
cellular response to aldehyde	1
cellular detoxification	1
primary metabolic process	1
alcohol dehydrogenase (NAD+) activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
aldehyde dehydrogenase [NAD(P)+] activity	1
retinol metabolic process	1
binding	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3369 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RDH11	RBP1	P09455	909
RDH11	RLBP1	P12271	904
RDH11	DHRS3	O75911	722
RDH11	LRAT	O95237	672
RDH11	RDH8	Q9NYR8	667
RDH11	RPE65	Q16518	618
RDH11	CHEK2	O96017	609
RDH11	ACP3	P15309	549
RDH11	RDH10	Q8IZV5	542
RDH11	ABCA4	P78363	522
RDH11	STRA6	Q9BX79	496
RDH11	KLKB1	P03952	481
RDH11	BCO1	Q9HAY6	472
RDH11	SLC45A3	Q96JT2	471
RDH11	SORD	Q00796	470

IntAct

128 interactions, top by confidence:

A	B	Type	Score
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
ESYT1	ESYT2	psi-mi:“MI:0914”(association)	0.770
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TACR1	ATP5PB	psi-mi:“MI:0914”(association)	0.640
SELENOF	RDH11	psi-mi:“MI:0915”(physical association)	0.610
SELENOF	RDH11	psi-mi:“MI:2364”(proximity)	0.610
RDH11	UBAC1	psi-mi:“MI:0915”(physical association)	0.590
	RDH11	psi-mi:“MI:0915”(physical association)	0.560
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
EVA1C	STK25	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SV2A	EXTL3	psi-mi:“MI:0914”(association)	0.530
RDH11	CCDC170	psi-mi:“MI:0915”(physical association)	0.400
BLOC1S2	RDH11	psi-mi:“MI:0915”(physical association)	0.370
RDH11	CA12	psi-mi:“MI:0915”(physical association)	0.370
RDH11	RDH11	psi-mi:“MI:0915”(physical association)	0.370
ROBO2	RDH11	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350

BioGRID (175): RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS), RDH11 (Affinity Capture-MS)

ESM2 similar proteins: A0A078IS66, A0A078ISJ6, A0A0B6VQ48, A0A1V0QS34, A0A2H3CZZ2, A0AAW1NHX6, A2RVM0, A4UHT7, A5PJJ7, B2X050, B8A5W4, G9N4A9, O17795, O74959, P16232, P40579, P40580, P59837, P70385, Q05A13, Q071N0, Q08651, Q17703, Q17704, Q4JK73, Q5F389, Q5NVG2, Q5R9W5, Q5ZJG8, Q6AYS8, Q6P3L6, Q6QA32, Q6RVV4, Q7SHI2, Q7TQA3, Q7Z5P4, Q8BYK4, Q8CEE7, Q8N3Y7, Q8NBN7

Diamond homologs: A0A017SEY2, A0A023I4F1, A0A0C6DRT7, A0A1B7YCL6, A0A2P1DP77, A0A345BJN5, A0A482ND39, A0A4P8DJW5, A0A5B8YU33, A0AAW1NHX6, A2RVM0, B2X050, B6H062, B6HLP6, B8M9L2, C8V3Y7, D7UQ42, F4JJR8, G1XTZ5, G3Y422, G4MVZ5, G9N4A1, G9N4A6, I1S2J3, O48741, O75828, O80333, P00335, P0DXW2, P15428, P16232, P19992, P21218, P28845, P42317, P50199, P50203, P51975, P70684, P9WEF8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3243951	NC_000014.8:g.(?68145038)(68282680_?)del	Pathogenic

SpliceAI

932 predictions. Top by Δscore:

Variant	Effect	Δscore
14:67690232:T:TA	donor_gain	1.0000
14:67691134:TCTTA:T	donor_loss	1.0000
14:67691135:CTTA:C	donor_loss	1.0000
14:67691136:TTACC:T	donor_loss	1.0000
14:67691137:T:TG	donor_loss	1.0000
14:67691138:AC:A	donor_gain	1.0000
14:67691139:CC:C	donor_gain	1.0000
14:67692606:A:C	acceptor_gain	1.0000
14:67693048:TTTTC:T	acceptor_gain	1.0000
14:67695626:AGAC:A	donor_loss	1.0000
14:67695627:GACCT:G	donor_loss	1.0000
14:67695628:ACCT:A	donor_loss	1.0000
14:67695629:C:CG	donor_loss	1.0000
14:67691138:A:AC	donor_gain	0.9900
14:67691139:C:CC	donor_gain	0.9900
14:67691240:TTCCT:T	acceptor_gain	0.9900
14:67691241:TCCT:T	acceptor_gain	0.9900
14:67691242:CCT:C	acceptor_gain	0.9900
14:67691242:CCTC:C	acceptor_gain	0.9900
14:67691243:CT:C	acceptor_gain	0.9900
14:67691243:CTC:C	acceptor_gain	0.9900
14:67691244:TCT:T	acceptor_gain	0.9900
14:67691245:C:CC	acceptor_gain	0.9900
14:67692431:CACT:C	donor_loss	0.9900
14:67692432:ACTT:A	donor_loss	0.9900
14:67692433:CTTAC:C	donor_loss	0.9900
14:67692434:TTA:T	donor_loss	0.9900
14:67692435:TACCA:T	donor_loss	0.9900
14:67692436:A:AT	donor_loss	0.9900
14:67692437:CCAG:C	donor_gain	0.9900

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:67690272:A:G	Y202H	0.996
14:67678351:A:C	S309R	0.995
14:67678351:A:T	S309R	0.995
14:67678353:T:G	S309R	0.995
14:67685059:A:C	C270W	0.995
14:67690258:C:A	K206N	0.995
14:67690258:C:G	K206N	0.995
14:67690259:T:A	K206M	0.995
14:67690261:G:C	S205R	0.995
14:67690261:G:T	S205R	0.995
14:67690262:C:A	S205I	0.995
14:67690263:T:G	S205R	0.995
14:67690256:A:G	L207P	0.994
14:67690259:T:G	K206T	0.994
14:67691147:G:C	N149K	0.994
14:67691147:G:T	N149K	0.994
14:67692990:A:T	V46D	0.994
14:67690347:A:G	S177P	0.993
14:67690350:A:G	S176P	0.993
14:67678364:A:G	L305P	0.992
14:67690254:C:G	A208P	0.992
14:67690349:G:A	S176F	0.992
14:67691216:G:C	N126K	0.992
14:67691216:G:T	N126K	0.992
14:67690349:G:T	S176Y	0.990
14:67692955:C:G	A58P	0.990
14:67685079:C:G	A264P	0.989
14:67690421:C:T	G152D	0.989
14:67692954:G:T	A58D	0.989
14:67685060:C:T	C270Y	0.988

dbSNP variants (sampled 300 via entrez): RS1000260011 (14:67680546 C>G), RS1000466972 (14:67688295 C>T), RS1000617008 (14:67679903 T>C), RS1000645117 (14:67680245 A>G), RS1000683659 (14:67681556 G>A), RS1000966571 (14:67695141 A>G), RS1000973234 (14:67693432 G>A), RS1001334930 (14:67694806 T>C), RS1001341817 (14:67692977 A>C,G), RS1001803693 (14:67694566 G>A), RS1001892104 (14:67692995 A>G), RS1001954726 (14:67686362 G>A), RS1002103022 (14:67692375 T>C,G), RS1002149829 (14:67679100 T>C), RS1002202196 (14:67679375 C>G)

Disease associations

OMIM: gene MIM:607849 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	Strong	Autosomal recessive

Mondo (1): retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (MONDO:0014495)

Orphanet (0):

HPO phenotypes

36 total (30 of 36 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000272	Malar flattening
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000430	Underdeveloped nasal alae
HP:0000470	Short neck
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000529	Progressive visual loss
HP:0000556	Retinal dystrophy
HP:0000582	Upslanted palpebral fissure
HP:0000662	Nyctalopia
HP:0000687	Widely spaced teeth
HP:0000689	Dental malocclusion
HP:0000699	Diastema
HP:0001118	Juvenile cataract
HP:0001133	Constriction of peripheral visual field
HP:0001156	Brachydactyly
HP:0001263	Global developmental delay
HP:0001328	Specific learning disability
HP:0001999	Abnormal facial shape
HP:0002311	Incoordination
HP:0002342	Moderate intellectual disability
HP:0004322	Short stature
HP:0007010	Poor fine motor coordination
HP:0007675	Progressive night blindness
HP:0007722	Retinal pigment epithelial atrophy
HP:0007737	Spicular pigmentation of the retina

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases expression	3
Tobacco Smoke Pollution	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
methylselenic acid	affects expression	1
methylparaben	increases expression	1
cobaltous chloride	increases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
LDN 193189	decreases expression, affects cotreatment	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
bisphenol AF	increases expression	1
Bortezomib	increases expression	1
Sunitinib	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Cisplatin	decreases expression, increases reaction	1
Doxorubicin	decreases expression	1
Haloperidol	decreases expression	1
Ivermectin	decreases expression	1
Lead	increases expression	1
Methyl Methanesulfonate	decreases expression	1
NADP	affects binding, increases activity	1
Ozone	affects expression, increases abundance	1
Piroxicam	decreases expression, increases reaction	1
Rotenone	decreases expression	1
Selenium	decreases expression	1

Clinical trials (associated diseases)

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