SDR16C5

Summary

SDR16C5 (short chain dehydrogenase/reductase family 16C member 5, HGNC:30311) is a protein-coding gene on chromosome 8q12.1, encoding Epidermal retinol dehydrogenase 2 (Q8N3Y7). Oxidoreductase with strong preference for NAD.

This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 195814 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_138969

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30311
Approved symbol	SDR16C5
Name	short chain dehydrogenase/reductase family 16C member 5
Location	8q12.1
Locus type	gene with protein product
Status	Approved
Aliases	RDHE2, RDH-E2, EPHD-2
Ensembl gene	ENSG00000170786
Ensembl biotype	protein_coding
OMIM	608989
Entrez	195814

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000303749, ENST00000396721, ENST00000522671, ENST00000956499, ENST00000956500, ENST00000956501, ENST00000956502

RefSeq mRNA: 3 — MANE Select: NM_138969 NM_001318049, NM_001318050, NM_138969

CCDS: CCDS6167, CCDS83295, CCDS83296

Canonical transcript exons

ENST00000303749 — 7 exons

Exon	Start	End
ENSE00001122721	56306676	56306820
ENSE00001122729	56308928	56309027
ENSE00001122734	56312157	56312288
ENSE00001137340	56305597	56305722
ENSE00001137347	56316015	56316361
ENSE00002117039	56320059	56320175
ENSE00002131602	56300005	56301573

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 99.01.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6978 / max 175.0465, expressed in 339 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93140	1.6046	333
93141	0.0932	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.01	gold quality
oral cavity	UBERON:0000167	98.04	gold quality
esophagus squamous epithelium	UBERON:0006920	97.95	gold quality
gingiva	UBERON:0001828	97.76	gold quality
upper leg skin	UBERON:0004262	97.58	gold quality
gingival epithelium	UBERON:0001949	97.52	gold quality
lower lobe of lung	UBERON:0008949	96.29	gold quality
jejunal mucosa	UBERON:0000399	96.24	gold quality
mammalian vulva	UBERON:0000997	96.17	gold quality
nasal cavity epithelium	UBERON:0005384	95.57	gold quality
palpebral conjunctiva	UBERON:0001812	95.10	gold quality
penis	UBERON:0000989	94.84	gold quality
skin of hip	UBERON:0001554	94.56	gold quality
bronchial epithelial cell	CL:0002328	94.24	gold quality
zone of skin	UBERON:0000014	93.52	gold quality
lower esophagus mucosa	UBERON:0035834	93.51	gold quality
bronchus	UBERON:0002185	93.29	gold quality
skin of abdomen	UBERON:0001416	93.23	gold quality
skin of leg	UBERON:0001511	93.15	gold quality
esophagus mucosa	UBERON:0002469	93.11	gold quality
epithelium of nasopharynx	UBERON:0001951	92.01	gold quality
nasopharynx	UBERON:0001728	91.99	gold quality
upper lobe of lung	UBERON:0008948	90.14	gold quality
upper lobe of left lung	UBERON:0008952	89.67	gold quality
pharyngeal mucosa	UBERON:0000355	88.11	gold quality
nasal cavity mucosa	UBERON:0001826	88.09	gold quality
pancreatic ductal cell	CL:0002079	87.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.55	gold quality
endothelial cell	CL:0000115	86.08	gold quality
lung	UBERON:0002048	85.66	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	226.20
E-MTAB-8142	yes	117.15
E-HCAD-1	yes	77.69
E-MTAB-10596	no	453.40
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting SDR16C5, 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-6873-3P	100.00	71.42	2626
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3120-3P	99.54	70.28	2669

Literature-anchored findings (GeneRIF, showing 2)

• mapped to chromosome 8; may be involved in the pathogenesis of psoriasis through its critical role in retinol metabolism in keratinocyte proliferation (PMID:12372410)
• LRG1 and SDR16C5 protein expressions differ according to HPV status in oropharyngeal squamous cell carcinoma. (PMID:38898137)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sdr16c5a	ENSDARG00000016233
danio_rerio	sdr16c5b	ENSDARG00000017794
mus_musculus	Sdr16c5	ENSMUSG00000028236
rattus_norvegicus	Sdr16c5	ENSRNOG00000008871

Paralogs (25): HSD17B6 (ENSG00000025423), RDH11 (ENSG00000072042), 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), HSD11B2 (ENSG00000176387), WWOX (ENSG00000186153), HSD17B11 (ENSG00000198189), HSD17B8 (ENSG00000204228)

Protein

Protein identifiers

Epidermal retinol dehydrogenase 2 — Q8N3Y7 (reviewed: Q8N3Y7)

Alternative names: Retinal short-chain dehydrogenase reductase 2, Short-chain dehydrogenase/reductase family 16C member 5

All UniProt accessions (2): Q8N3Y7, G3V145

UniProt curated annotations — full annotation on UniProt →

Function. Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasis lesions relative to unaffected skin from psoriasis patients. Detected in fetal kidney, skin and lung.

Pathway. Cofactor metabolism; retinol metabolism.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N3Y7-1	1	yes
Q8N3Y7-2	2

RefSeq proteins (3): NP_001304978, NP_001304979, NP_620419* (*=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 1.1.1.105 — all-trans-retinol dehydrogenase (NAD+) (BRENDA: 12 organisms, 80 substrates, 15 inhibitors, 31 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALL-TRANS-RETINOL	—	6
NADH	0.011–0.224	6
ALL-TRANS-RETINAL	0.0018–0.57	5
NAD+	0.0002–0.46	3
11-CIS-RETINOL	0.0001–0.086	2
9-CIS-RETINOL	0.0022	1
ALL-TRANS RETINAL	0.0005	1
ALL-TRANS-RETINALDEHYDE	0.0005	1
ANDROSTERONE	0.0002	1
NADP+	0.027	1
NADPH	0.0015	1
RETINOL	0.12	1
RETINOL BOUND TO CELLULAR RETINOL BINDING PROTEI	0.0027	1

Catalyzed reactions (Rhea), 1 shown:

• all-trans-retinol–[retinol-binding protein] + NAD(+) = all-trans-retinal–[retinol-binding protein] + NADH + H(+) (RHEA:48488)

UniProt features (10 total): transmembrane region 2, binding site 2, sequence conflict 2, chain 1, active site 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N3Y7-F1	94.83	0.90

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): 190 (proton acceptor)

Ligand- & substrate-binding residues (2): 44–68; 177

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5365859	RA biosynthesis pathway

MSigDB gene sets: 91 (showing top): GOBP_KERATINOCYTE_PROLIFERATION, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_RETINAL_METABOLIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ALDEHYDE_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOBP_CHROMATIN_REMODELING, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOBP_ISOPRENOID_METABOLIC_PROCESS

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), retinol metabolic process (GO:0042572), retinal metabolic process (GO:0042574), keratinocyte proliferation (GO:0043616), negative regulation of gene expression, epigenetic (GO:0045814)

GO Molecular Function (6): transcription corepressor activity (GO:0003714), all-trans-retinol dehydrogenase (NAD+) activity (GO:0004745), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), transcription repressor complex (GO:0017053), endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Retinoic Acid	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of DNA-templated transcription	2
retinoid metabolic process	2
olefinic compound metabolic process	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
primary alcohol metabolic process	1
hormone metabolic process	1
aldehyde metabolic process	1
epithelial cell proliferation	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
transcription coregulator activity	1
alcohol dehydrogenase (NAD+) activity	1
DNA-binding transcription factor binding	1
transcription factor binding	1
binding	1
catalytic activity	1
chromosome	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membraneless organelle	1
transcription regulator complex	1
cytoplasm	1
endomembrane system	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

3045 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SDR16C5	CHCHD7	Q9BUK0	721
SDR16C5	TMEM68	Q96MH6	662
SDR16C5	FAM110B	Q8TC76	585
SDR16C5	PLAG1	Q6DJT9	556
SDR16C5	PENK	P01210	534
SDR16C5	XKR4	Q5GH76	532
SDR16C5	RPS20	P17075	522
SDR16C5	PRRG4	Q9BZD6	441
SDR16C5	NSMAF	Q92636	426
SDR16C5	LINC03043	A4D0Y5	418
SDR16C5	SCRT1	Q9BWW7	410
SDR16C5	RDH11	Q8TC12	409
SDR16C5	RDH14	Q9HBH5	401
SDR16C5	CEP41	Q9BYV8	386
SDR16C5	ACP4	Q9BZG2	386

IntAct

59 interactions, top by confidence:

A	B	Type	Score
SDR16C5	HSFX1	psi-mi:“MI:0915”(physical association)	0.560
SDR16C5	NDRG4	psi-mi:“MI:0915”(physical association)	0.560
SYT16	SDR16C5	psi-mi:“MI:0915”(physical association)	0.560
SNX1	SDR16C5	psi-mi:“MI:0915”(physical association)	0.560
SDR16C5	FUNDC2	psi-mi:“MI:0915”(physical association)	0.560
GAD2	SDR16C5	psi-mi:“MI:0915”(physical association)	0.560
TTPA	SDR16C5	psi-mi:“MI:0915”(physical association)	0.560
SDR16C5	SENP2	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	SDR16C5	psi-mi:“MI:0915”(physical association)	0.560
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
EXTL1	SDR16C5	psi-mi:“MI:0915”(physical association)	0.370
SDR16C5	NLK	psi-mi:“MI:0915”(physical association)	0.370
ORF36	PTCD1	psi-mi:“MI:0914”(association)	0.350
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
SDR16C5	RPSA2	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC6	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
RIPPLY3	A2ML1	psi-mi:“MI:0914”(association)	0.350
HCN1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PTDSS1	IGLL5	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
NRSN1	IGLC7	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): SDR16C5 (Affinity Capture-MS), SDR16C5 (Affinity Capture-MS), SDR16C5 (Affinity Capture-MS), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), SDR16C5 (Two-hybrid), HSFX1 (Two-hybrid), HSFX2 (Two-hybrid), SDR16C5 (Affinity Capture-MS), SDR16C5 (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: A1L1W4, A4IFM3, A5JYX5, A5PJJ7, N4WE43, N4WW42, O74628, O75911, O77769, O88876, P0AEK2, P0AEK3, P14061, P26620, P28485, P28486, P41177, P48814, P48815, P50203, P66778, P91615, P9WGP8, P9WGP9, P9WGS2, P9WGS3, Q02207, Q05A13, Q1WNP0, Q4JK73, Q5M875, Q5NVG2, Q5XGF7, Q68ER2, Q6AYS8, Q6DCT3, Q6NRV4, Q6NUE2, Q70UN9, Q70UP5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1226 predictions. Top by Δscore:

Variant	Effect	Δscore
8:56303974:A:AC	donor_gain	1.0000
8:56303992:AAG:A	donor_gain	1.0000
8:56305720:CAG:C	acceptor_gain	1.0000
8:56306670:ACTT:A	donor_loss	1.0000
8:56306672:TTA:T	donor_loss	1.0000
8:56306673:TA:T	donor_loss	1.0000
8:56306674:A:AC	donor_gain	1.0000
8:56306674:AC:A	donor_gain	1.0000
8:56306674:ACC:A	donor_gain	1.0000
8:56306675:C:CC	donor_gain	1.0000
8:56306675:C:CG	donor_loss	1.0000
8:56306675:CC:C	donor_gain	1.0000
8:56306675:CCC:C	donor_gain	1.0000
8:56306675:CCCT:C	donor_gain	1.0000
8:56306817:TAAT:T	acceptor_gain	1.0000
8:56306818:AATCT:A	acceptor_loss	1.0000
8:56306819:ATC:A	acceptor_loss	1.0000
8:56306820:TCTG:T	acceptor_loss	1.0000
8:56306821:C:CC	acceptor_gain	1.0000
8:56306821:CTGAA:C	acceptor_loss	1.0000
8:56306822:T:G	acceptor_loss	1.0000
8:56309023:TAAGT:T	acceptor_gain	1.0000
8:56309026:GTC:G	acceptor_loss	1.0000
8:56309027:TC:T	acceptor_loss	1.0000
8:56309028:C:CC	acceptor_gain	1.0000
8:56309028:C:CG	acceptor_loss	1.0000
8:56309029:T:C	acceptor_loss	1.0000
8:56303975:G:C	donor_gain	0.9900
8:56305592:ATTAC:A	donor_loss	0.9900
8:56305593:TTA:T	donor_loss	0.9900

AlphaMissense

2026 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:56306805:T:A	K194I	0.997
8:56306807:A:C	S193R	0.995
8:56306807:A:T	S193R	0.995
8:56306809:T:G	S193R	0.995
8:56312250:G:C	N124K	0.995
8:56312250:G:T	N124K	0.995
8:56316145:A:T	V68D	0.994
8:56308975:A:T	V173D	0.993
8:56306693:A:C	F231L	0.992
8:56306693:A:T	F231L	0.992
8:56306695:A:G	F231L	0.992
8:56306779:A:G	S203P	0.992
8:56308962:A:C	S177R	0.992
8:56308962:A:T	S177R	0.992
8:56308964:T:G	S177R	0.992
8:56312257:A:G	L122P	0.992
8:56316140:A:G	W70R	0.992
8:56316140:A:T	W70R	0.992
8:56306818:A:G	Y190H	0.991
8:56316217:A:G	L44P	0.991
8:56306801:A:C	F195L	0.990
8:56306801:A:T	F195L	0.990
8:56306803:A:G	F195L	0.990
8:56306813:A:C	C191W	0.990
8:56309013:A:C	F160L	0.990
8:56309013:A:T	F160L	0.990
8:56309015:A:G	F160L	0.990
8:56309011:A:G	L161P	0.989
8:56312175:A:C	N149K	0.989
8:56312175:A:T	N149K	0.989

dbSNP variants (sampled 300 via entrez): RS1000172263 (8:56304400 C>T), RS1000265274 (8:56311855 C>T), RS1000459092 (8:56318154 G>A), RS1000474286 (8:56302252 G>A), RS1000563006 (8:56317490 C>G), RS1000569138 (8:56304875 T>A), RS1000850941 (8:56317742 A>G), RS1000951241 (8:56300241 G>A), RS1001015700 (8:56309213 GT>G,GTT), RS1001201469 (8:56321338 G>A,T), RS1001216442 (8:56315140 G>A,C), RS1001416391 (8:56308373 G>A), RS1001446931 (8:56309599 T>C), RS1001728262 (8:56315439 G>C), RS1001845276 (8:56303421 A>C)

Disease associations

OMIM: gene MIM:608989 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000175_46	Height	7.000000e-08
GCST000176_3	Height	4.000000e-07
GCST000817_119	Height	8.000000e-27
GCST000817_32	Height	1.000000e-09
GCST001956_81	Height	3.000000e-09
GCST002702_59	Height	5.000000e-25
GCST008163_238	Height	6.000000e-07
GCST008163_37	Height	5.000000e-06
GCST008839_382	Height	1.000000e-53
GCST008839_392	Height	7.000000e-12
GCST008839_454	Height	2.000000e-13
GCST010002_300	Refractive error	1.000000e-19
GCST012227_149	Hip circumference adjusted for BMI	7.000000e-15
GCST012227_150	Hip circumference adjusted for BMI	1.000000e-08
GCST90020028_305	Hip circumference adjusted for BMI	2.000000e-20
GCST90020028_306	Hip circumference adjusted for BMI	5.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, increases abundance	3
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases methylation	2
NAD	affects activity, affects binding, increases activity	2
Retinaldehyde	increases chemical synthesis, increases reduction	2
Vitamin A	increases metabolic processing, increases oxidation	2
Aflatoxin B1	affects expression, increases expression	2
methyleugenol	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
arsenite	decreases expression, increases abundance	1
sulforaphane	decreases expression	1
cupric chloride	increases expression	1
imidazole	decreases activity	1
4-nonylphenol	affects cotreatment, increases expression	1
4-tert-octylphenol	increases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Calcitriol	increases expression	1
Fonofos	increases methylation	1
N-Nitrosopyrrolidine	increases expression	1
Parathion	increases methylation	1
Silicon Dioxide	increases expression	1
Tretinoin	affects cotreatment, increases chemical synthesis, decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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