RDH10

Summary

RDH10 (retinol dehydrogenase 10, HGNC:19975) is a protein-coding gene on chromosome 8q21.11, encoding Retinol dehydrogenase 10 (Q8IZV5). Retinol dehydrogenase with a clear preference for NADP.

This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development.

Source: NCBI Gene 157506 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_172037

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19975
Approved symbol	RDH10
Name	retinol dehydrogenase 10
Location	8q21.11
Locus type	gene with protein product
Status	Approved
Aliases	SDR16C4
Ensembl gene	ENSG00000121039
Ensembl biotype	protein_coding
OMIM	607599
Entrez	157506

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 retained_intron

ENST00000240285, ENST00000518870, ENST00000519380, ENST00000521013, ENST00000521928, ENST00000852525

RefSeq mRNA: 1 — MANE Select: NM_172037 NM_172037

CCDS: CCDS6213

Canonical transcript exons

ENST00000240285 — 6 exons

Exon	Start	End
ENSE00000928523	73322679	73322810
ENSE00000980825	73320932	73321077
ENSE00001122881	73294602	73295578
ENSE00001301999	73322913	73325281
ENSE00001315953	73319096	73319194
ENSE00003649500	73297194	73297429

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 99.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8305 / max 1210.4060, expressed in 1626 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89378	15.7946	1461
89377	1.6937	821
89376	0.4225	225
89381	0.3391	168
89380	0.2276	99
89383	0.1709	77
89382	0.0941	39
89379	0.0881	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	99.45	gold quality
palpebral conjunctiva	UBERON:0001812	98.88	gold quality
decidua	UBERON:0002450	98.24	gold quality
oocyte	CL:0000023	97.53	gold quality
eye	UBERON:0000970	97.50	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.89	gold quality
trachea	UBERON:0003126	96.36	gold quality
secondary oocyte	CL:0000655	96.23	gold quality
jejunal mucosa	UBERON:0000399	95.92	gold quality
bronchus	UBERON:0002185	95.70	gold quality
bronchial epithelial cell	CL:0002328	95.63	gold quality
kidney epithelium	UBERON:0004819	94.90	gold quality
nasal cavity mucosa	UBERON:0001826	94.82	gold quality
nerve	UBERON:0001021	94.27	gold quality
tibial nerve	UBERON:0001323	94.27	gold quality
mucosa of stomach	UBERON:0001199	94.14	gold quality
ileal mucosa	UBERON:0000331	93.70	gold quality
pigmented layer of retina	UBERON:0001782	93.36	gold quality
retina	UBERON:0000966	93.34	gold quality
epithelium of nasopharynx	UBERON:0001951	93.34	gold quality
duodenum	UBERON:0002114	92.97	gold quality
gall bladder	UBERON:0002110	92.84	gold quality
minor salivary gland	UBERON:0001830	92.47	gold quality
buccal mucosa cell	CL:0002336	91.31	gold quality
adenohypophysis	UBERON:0002196	91.12	gold quality
placenta	UBERON:0001987	91.04	gold quality
liver	UBERON:0002107	91.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.02	gold quality
mouth mucosa	UBERON:0003729	90.75	gold quality
saliva-secreting gland	UBERON:0001044	90.56	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	507.01
E-HCAD-10	yes	28.09
E-GEOD-135922	yes	13.63
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

131 targeting RDH10, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
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
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-8082	99.95	67.27	1170

Literature-anchored findings (GeneRIF, showing 17)

• organization of the gene includes a unique transcriptional start site, a coding region with six translated exons and a 3’ UTR containing at least two used polyadenylation sites. (PMID:14596915)
• Forced over-expression of the RDH10 gene causes growth arrest of HepG2 cells and could be a possible curative strategy for hepatocellular carcinoma. (PMID:17218779)
• dual physiological role for RDH10: in the biosynthesis of 11-cis-retinaldehyde for vision as well as the biosynthesis of all-trans-retinoic acid for differentiation and development (PMID:18502750)
• wild-type RDH10 catalysed both oxidation of all-trans-retinol and reduction of all-trans-retinal in a cofactor-dependent manner In vitro, however, oxidation is the favoured reaction catalysed by RDH10 (PMID:19102727)
• CYP4Z1, KIR and RDH10 could play a role in non-small-cell lung cancer progression (PMID:19473719)
• Retinol dehydrogenase 10 but not retinol/sterol dehydrogenase(s) regulates the expression of retinoic acid-responsive genes in human transgenic skin raft culture. (PMID:21345790)
• all three proteins (RDH10, RALDH2, and CRABP2) appeared to be required for ATRA production induced by activation of PPARgamma (PMID:23833249)
• Data indicate that retinaldehyde reductase (DHRS3) requires retinol dehydrogenase 10 (RDH10) for full enzymatic activity and, in turn, activates RDH10. (PMID:24733397)
• Insulin inhibits retinoic acid biosynthesis through inhibition of FoxO1-induced Rdh10 gene expression. (PMID:25627686)
• In close proximity to RDH10 gene on human chromosome 8 are located two genes that are phylogenetically related to RDH10. The predicted protein products of these genes, retinol dehydrogenase epidermal 2 (RDHE2, SDR16C5) and retinol dehydrogenase epidermal 2-similar (RDHE2S, SDR16C6), share 59% and 56% sequence similarity with RDH10. (PMID:27793605)
• Taken together, our findings demonstrate that RDH10 is essential during the early stages of facial morphogenesis for the formation of a functional nasal airway, and furthermore establish Rdh10 mutant mice as an important model system to study choanal atresia (CA) . (PMID:28169399)
• the bifunctional nature of retinoid oxidoreductase complex provides the RA-based signaling system with robustness by safeguarding appropriate RA concentration despite naturally occurring fluctuations in RDH10 and DHRS3. (PMID:28232491)
• increased expression of ALDH1A1-RDH10-RARalpha- PPARbeta/delta pattern could be considered as adverse prognostic factor associated with a higher concentration of paraprotein and worst overall survival of patients with newly diagnosed multiple myeloma. (PMID:30695588)
• RDH10 regulated the migration and invasion of glioma cells via the TGF-beta/SMAD signaling pathway. (PMID:31613821)
• Changes in retinoid metabolism and signaling associated with metabolic remodeling during fasting and in type I diabetes. (PMID:33485967)
• Retinol dehydrogenase 10 contributes to cancer stemness and intracellular carbohydrate storage in ovarian clear cell carcinomas. (PMID:35634847)
• Retinol dehydrogenase 10 promotes epithelial-mesenchymal transition in spinal cord gliomas via PI3K/AKT pathway. (PMID:39180753)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rdh10b	ENSDARG00000012369
danio_rerio	rdh10a	ENSDARG00000058730
mus_musculus	Rdh10	ENSMUSG00000025921
rattus_norvegicus	Rdh10	ENSRNOG00000006681

Paralogs (25): HSD17B6 (ENSG00000025423), RDH11 (ENSG00000072042), HSD17B10 (ENSG00000072506), DHRS9 (ENSG00000073737), HSD17B2 (ENSG00000086696), HSD17B14 (ENSG00000087076), DHRS12 (ENSG00000102796), HSDL1 (ENSG00000103160), HSD17B1 (ENSG00000108786), 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 10 — Q8IZV5 (reviewed: Q8IZV5)

Alternative names: Short chain dehydrogenase/reductase family 16C member 4

All UniProt accessions (3): E5RHJ9, E5RK48, Q8IZV5

UniProt curated annotations — full annotation on UniProt →

Function. Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.

Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.

Tissue specificity. Detected in retina, kidney, liver, small intestine, placenta, lung, heart and skeletal muscle.

Pathway. Cofactor metabolism; retinol metabolism.

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

RefSeq proteins (1): NP_742034* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR020904	Sc_DH/Rdtase_CS	Conserved_site
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00106

Enzyme classification (BRENDA):

• EC 1.1.1.105 — all-trans-retinol dehydrogenase (NAD+) (BRENDA: 12 organisms, 80 substrates, 15 inhibitors, 31 Km, 2 kcat entries)
• EC 1.1.1.300 — NADP-retinol dehydrogenase (BRENDA: 11 organisms, 101 substrates, 7 inhibitors, 67 Km, 12 kcat entries)
• EC 1.1.1.315 — 11-cis-retinol dehydrogenase (BRENDA: 3 organisms, 59 substrates, 4 inhibitors, 26 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

38 substrates with measured Km, best-characterized 15. 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	—	6
NADH	0.011–0.224	6
ALL-TRANS-RETINOL	0.0006–1.3	6
ALL-TRANS-RETINAL	0.0018–0.57	5
NADH	2.22–1300	4
NAD+	0.002–0.1	4
NAD+	0.0002–0.46	3
ALL-TRANS-3-HYDROXYRETINAL	0.0032–0.0044	3
ESTRONE	0.0096–0.0307	3
NAD+	0.004–680	3
11-CIS-RETINOL-[CELLULAR RETINALDEHYDE BINDING P	0.0025–0.0067	3
9-CIS-RETINOL	0.0066–6	3

Catalyzed reactions (Rhea), 1 shown:

• all-trans-retinol + NADP(+) = all-trans-retinal + NADPH + H(+) (RHEA:25033)

UniProt features (5 total): binding site 2, chain 1, transmembrane region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZV5-F1	91.73	0.74

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): 210 (proton acceptor)

Ligand- & substrate-binding residues (2): 40–64; 197

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 323 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RRAGTTGT_UNKNOWN, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_METANEPHROS_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GGGNRMNNYCAT_UNKNOWN, GOBP_EPITHELIAL_TUBE_BRANCHING_INVOLVED_IN_LUNG_MORPHOGENESIS, GOBP_BRANCH_ELONGATION_OF_AN_EPITHELIUM, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (21): retinoid metabolic process (GO:0001523), metanephros development (GO:0001656), in utero embryonic development (GO:0001701), retinoic acid biosynthetic process (GO:0002138), visual perception (GO:0007601), gonad development (GO:0008406), neural crest cell development (GO:0014032), embryonic camera-type eye development (GO:0031076), embryonic forelimb morphogenesis (GO:0035115), retinol metabolic process (GO:0042572), retinal metabolic process (GO:0042574), ear development (GO:0043583), nose development (GO:0043584), embryonic viscerocranium morphogenesis (GO:0048703), primary lung bud formation (GO:0060431), bud elongation involved in lung branching (GO:0060449), positive regulation of retinoic acid biosynthetic process (GO:1900054), lipid metabolic process (GO:0006629), animal organ morphogenesis (GO:0009887), regulation of hormone levels (GO:0010817), embryonic organ development (GO:0048568)

GO Molecular Function (5): 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), all-trans-retinol dehydrogenase (NADP+) activity (GO:0052650), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (5): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Visual phototransduction	1
Signaling by Retinoic Acid	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
animal organ development	2
retinoid metabolic process	2
olefinic compound metabolic process	2
sensory organ development	2
epithelial tube branching involved in lung morphogenesis	2
cellular anatomical structure	2
diterpenoid metabolic process	1
kidney development	1
chordate embryonic development	1
diterpenoid biosynthetic process	1
retinoic acid metabolic process	1
monocarboxylic acid biosynthetic process	1
sensory perception of light stimulus	1
development of primary sexual characteristics	1
reproductive structure development	1
neural crest cell differentiation	1
stem cell development	1
camera-type eye development	1
embryonic organ development	1
embryonic limb morphogenesis	1
forelimb morphogenesis	1
primary alcohol metabolic process	1
hormone metabolic process	1
aldehyde metabolic process	1
respiratory system development	1
embryonic morphogenesis	1
embryonic cranial skeleton morphogenesis	1
morphogenesis of embryonic epithelium	1
animal organ formation	1
morphogenesis of an epithelial bud	1
branch elongation of an epithelium	1
retinoic acid biosynthetic process	1
positive regulation of hormone metabolic process	1
positive regulation of vitamin metabolic process	1
positive regulation of lipid biosynthetic process	1
regulation of retinoic acid biosynthetic process	1
primary metabolic process	1
anatomical structure morphogenesis	1
regulation of biological quality	1
alcohol dehydrogenase (NAD+) activity	1

Protein interactions and networks

STRING

3009 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RDH10	RGR	P47804	971
RDH10	SORD	Q00796	886
RDH10	DHRS3	O75911	761
RDH10	CYP26A1	O43174	749
RDH10	ALDH1A2	O94788	719
RDH10	CYP26B1	Q9NR63	701
RDH10	STRA6	Q9BX79	695
RDH10	RBP1	P09455	692
RDH10	ALDH1A3	P47895	690
RDH10	LRAT	O95237	687
RDH10	RARS1	P54136	651
RDH10	RDH12	Q96NR8	641
RDH10	CYP26C1	Q6V0L0	637
RDH10	ALDH1A1	P00352	626
RDH10	CRABP2	P29373	571

IntAct

26 interactions, top by confidence:

A	B	Type	Score
RDH10	ACSF2	psi-mi:“MI:0915”(physical association)	0.560
RDH10	DDA1	psi-mi:“MI:0915”(physical association)	0.560
RDH10	RMDN2	psi-mi:“MI:0915”(physical association)	0.560
GAD2	RDH10	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
ZDHHC5	HACD3	psi-mi:“MI:0914”(association)	0.350
PTEN	ERAL1	psi-mi:“MI:0914”(association)	0.350
GP9	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIGH	ILVBL	psi-mi:“MI:0914”(association)	0.350
SPINT2	SPAG9	psi-mi:“MI:0914”(association)	0.350
SLC11A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC27A5	MEIOC	psi-mi:“MI:0914”(association)	0.350
SLC30A8	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
SLC44A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
RDH10	RAB39A	psi-mi:“MI:0915”(physical association)	0.000
RDH10	ERGIC1	psi-mi:“MI:0915”(physical association)	0.000
ACSF2	RDH10	psi-mi:“MI:0915”(physical association)	0.000
DDA1	RDH10	psi-mi:“MI:0915”(physical association)	0.000
RMDN2	RDH10	psi-mi:“MI:0915”(physical association)	0.000
GAD2	RDH10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): RDH10 (Affinity Capture-MS), ERGIC1 (Affinity Capture-MS), RAB39A (Affinity Capture-MS), RDH10 (Affinity Capture-RNA), RDH10 (Two-hybrid), DDA1 (Two-hybrid), GAD2 (Two-hybrid), ACSF2 (Two-hybrid), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS), RDH10 (Proximity Label-MS)

ESM2 similar proteins: A0A140FAN3, A1L1W4, A5PJF6, A5PJJ7, A7LB59, A7LB60, F1QLP1, O16881, P0DKC5, P0DKC6, P0DKC7, P16232, P28845, P50172, P51975, P70385, Q02337, Q02338, Q09851, Q10130, Q29608, Q3SXM5, Q4V8B7, Q5M875, Q5R7K0, Q5XGF7, Q5ZJG8, Q5ZJZ5, Q6AYS8, Q6DCT3, Q6NRV4, Q6P3L6, Q6QA32, Q6QLL4, Q6R0J2, Q7T2D1, Q80XN0, Q80ZF7, Q8BTX9, Q8HZJ8

Diamond homologs: A0A084R1K1, A0A097ZPC9, A0A0F7U1Z1, A0A0U5GHD4, A0A1E1FFP5, A0A1Y0BRF8, A0A2I1BSW8, A0A384JQF5, A0A3G9HAL8, A0A455R5K2, A0A6S6QNE4, A0A8D5M6H6, A0QYC2, A6SSW9, B6HV34, C1C4R8, C8WGQ3, D4A1J4, G0RNA2, G4N1P8, H1VN83, L7I518, O32184, O34308, O70351, P06235, P0A2D1, P0A2D2, P0DX40, P14802, P16542, P21215, P28486, P37079, P37440, P37694, P41177, P50160, P70684, P76633

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RDH10	“down-regulates quantity”	retinol	“chemical modification”
RDH10	“up-regulates quantity”	retinal	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

929 predictions. Top by Δscore:

Variant	Effect	Δscore
8:73297161:A:AG	acceptor_gain	1.0000
8:73297161:AT:A	acceptor_gain	1.0000
8:73297162:T:G	acceptor_gain	1.0000
8:73297177:T:TA	acceptor_gain	1.0000
8:73297178:G:A	acceptor_gain	1.0000
8:73322661:T:TA	acceptor_gain	1.0000
8:73322665:T:G	acceptor_gain	1.0000
8:73322666:A:AG	acceptor_gain	1.0000
8:73322667:A:G	acceptor_gain	1.0000
8:73322669:T:G	acceptor_gain	1.0000
8:73322911:A:AG	acceptor_gain	1.0000
8:73322912:G:GG	acceptor_gain	1.0000
8:73322912:GC:G	acceptor_gain	1.0000
8:73295575:CAAG:C	donor_loss	0.9900
8:73295576:AAGG:A	donor_loss	0.9900
8:73295578:GGTAA:G	donor_loss	0.9900
8:73295579:G:GA	donor_loss	0.9900
8:73295580:T:A	donor_loss	0.9900
8:73297158:T:TA	acceptor_gain	0.9900
8:73297162:T:TA	acceptor_gain	0.9900
8:73297174:A:AG	acceptor_gain	0.9900
8:73297174:ATCT:A	acceptor_gain	0.9900
8:73297174:ATCTG:A	acceptor_gain	0.9900
8:73297175:T:G	acceptor_gain	0.9900
8:73297185:T:A	acceptor_gain	0.9900
8:73297307:G:GT	donor_gain	0.9900
8:73297430:G:GG	donor_gain	0.9900
8:73309312:G:GT	donor_gain	0.9900
8:73322664:A:AG	acceptor_gain	0.9900
8:73322668:A:AG	acceptor_gain	0.9900

AlphaMissense

2247 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:73320948:A:T	K214I	1.000
8:73321058:T:C	F251L	1.000
8:73321060:C:A	F251L	1.000
8:73321060:C:G	F251L	1.000
8:73295434:G:C	G49R	0.999
8:73295435:G:A	G49D	0.999
8:73295435:G:T	G49V	0.999
8:73295485:T:A	W66R	0.999
8:73295485:T:C	W66R	0.999
8:73295488:G:C	D67H	0.999
8:73295489:A:C	D67A	0.999
8:73295489:A:T	D67V	0.999
8:73297411:T:A	N169K	0.999
8:73297411:T:G	N169K	0.999
8:73319159:A:C	S197R	0.999
8:73319160:G:T	S197I	0.999
8:73319161:T:A	S197R	0.999
8:73319161:T:G	S197R	0.999
8:73319168:G:A	G200R	0.999
8:73319168:G:C	G200R	0.999
8:73319169:G:A	G200E	0.999
8:73320932:G:C	D209H	0.999
8:73320935:T:C	Y210H	0.999
8:73320940:T:G	C211W	0.999
8:73320944:A:C	S213R	0.999
8:73320945:G:T	S213I	0.999
8:73320946:T:A	S213R	0.999
8:73320946:T:G	S213R	0.999
8:73320949:A:C	K214N	0.999
8:73320949:A:T	K214N	0.999

dbSNP variants (sampled 300 via entrez): RS1000003715 (8:73300910 A>G), RS1000135255 (8:73317920 C>T), RS1000150814 (8:73310971 C>A,T), RS1000246071 (8:73311263 G>A,T), RS1000264478 (8:73320697 C>T), RS1000354398 (8:73304516 C>G), RS1000414658 (8:73297984 A>G,T), RS1000559104 (8:73294552 G>C), RS1000634926 (8:73318825 C>T), RS1000701577 (8:73320456 T>C), RS1000746212 (8:73299144 C>T), RS1000791985 (8:73312407 C>T), RS1000824079 (8:73306338 A>G), RS1000876795 (8:73294659 C>G,T), RS1001045157 (8:73294540 C>G)

Disease associations

OMIM: gene MIM:607599 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001438_7	Crohn’s disease	2.000000e-08
GCST007267_117	Systolic blood pressure	9.000000e-11
GCST010002_304	Refractive error	8.000000e-12
GCST010121_8	Ceramide levels (C24:0)	8.000000e-06
GCST010456_4	Anthracycline-induced cardiotoxicity in early breast cancer	6.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0005257	response to anthracycline-based chemotherapy
EFO:1001482	cardiotoxicity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
bisphenol A	decreases methylation, increases expression	3
Tretinoin	increases chemical synthesis, increases expression, decreases expression	3
Doxorubicin	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
geldanamycin	increases expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
2-methyl-4-isothiazolin-3-one	increases expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
cupric chloride	increases expression	1
2-palmitoylglycerol	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, increases expression	1
nutlin 3	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Dasatinib	increases expression	1
Rosiglitazone	increases expression	1
Pioglitazone	increases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	decreases expression	1

Clinical trials (associated diseases)

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