DHRS7B

Summary

DHRS7B (dehydrogenase/reductase 7B, HGNC:24547) is a protein-coding gene on chromosome 17p11.2, encoding Peroxisomal reductase activating PPAR-gamma (Q6IAN0). Reductase required for adipogenesis and activation of PPARG nuclear receptor.

Predicted to enable acylglycerone-phosphate reductase (NADP+) activity. Predicted to be involved in ether lipid biosynthetic process. Predicted to act upstream of or within several processes, including brown fat cell differentiation; phosphatidylcholine biosynthetic process; and regulation of cold-induced thermogenesis. Located in membrane.

Source: NCBI Gene 25979 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_015510

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24547
Approved symbol	DHRS7B
Name	dehydrogenase/reductase 7B
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp566O084, MGC8916, CGI-93, SDR32C1
Ensembl gene	ENSG00000109016
Ensembl biotype	protein_coding
OMIM	616160
Entrez	25979

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000346603, ENST00000395511, ENST00000577350, ENST00000578426, ENST00000579099, ENST00000579303, ENST00000581020, ENST00000581463, ENST00000582161, ENST00000583388, ENST00000881402, ENST00000917446

RefSeq mRNA: 6 — MANE Select: NM_015510 NM_001330159, NM_001393657, NM_001393658, NM_001393659, NM_001393660, NM_015510

CCDS: CCDS11215, CCDS82092

Canonical transcript exons

ENST00000395511 — 7 exons

Exon	Start	End
ENSE00001324790	21172018	21172196
ENSE00002688283	21126964	21126991
ENSE00002695910	21190948	21191420
ENSE00003469494	21183594	21183810
ENSE00003625410	21188711	21188863
ENSE00003666339	21184371	21184463
ENSE00003671233	21178233	21178342

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 93.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7971 / max 68.3655, expressed in 1802 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159897	7.2493	1768
159896	4.2410	1726
159898	0.3069	109

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	93.26	gold quality
muscle of leg	UBERON:0001383	91.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.80	gold quality
gastrocnemius	UBERON:0001388	91.60	gold quality
mucosa of transverse colon	UBERON:0004991	91.50	gold quality
apex of heart	UBERON:0002098	91.27	gold quality
triceps brachii	UBERON:0001509	91.04	silver quality
calcaneal tendon	UBERON:0003701	90.34	gold quality
muscle organ	UBERON:0001630	90.25	gold quality
metanephros cortex	UBERON:0010533	89.60	gold quality
heart left ventricle	UBERON:0002084	89.58	gold quality
cardiac ventricle	UBERON:0002082	89.19	gold quality
left testis	UBERON:0004533	89.17	gold quality
bronchial epithelial cell	CL:0002328	89.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.08	gold quality
left adrenal gland	UBERON:0001234	88.85	gold quality
right testis	UBERON:0004534	88.74	gold quality
right lobe of thyroid gland	UBERON:0001119	88.71	gold quality
islet of Langerhans	UBERON:0000006	88.70	gold quality
right atrium auricular region	UBERON:0006631	88.64	gold quality
right adrenal gland cortex	UBERON:0035827	88.64	gold quality
body of stomach	UBERON:0001161	88.63	gold quality
right adrenal gland	UBERON:0001233	88.63	gold quality
left lobe of thyroid gland	UBERON:0001120	88.62	gold quality
left adrenal gland cortex	UBERON:0035825	88.49	gold quality
skin of leg	UBERON:0001511	88.47	gold quality
minor salivary gland	UBERON:0001830	88.45	gold quality
skin of abdomen	UBERON:0001416	88.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.41	gold quality
epithelium of bronchus	UBERON:0002031	88.29	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting DHRS7B, 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-7110-3P	100.00	73.18	2486
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-193A-3P	98.59	66.36	769
HSA-MIR-193B-3P	98.59	66.62	748
HSA-MIR-640	98.44	66.93	644
HSA-MIR-3620-3P	97.78	64.88	772
HSA-MIR-4287	97.55	67.24	1247

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	dhrs7b	ENSDARG00000075726
mus_musculus	Dhrs7b	ENSMUSG00000042569
rattus_norvegicus	Dhrs7b	ENSRNOG00000005360
drosophila_melanogaster	CG7601	FBGN0027583
drosophila_melanogaster	CG31546	FBGN0051546
drosophila_melanogaster	CG31548	FBGN0051548
caenorhabditis_elegans		WBGENE00000970
caenorhabditis_elegans		WBGENE00000975
caenorhabditis_elegans		WBGENE00000981
caenorhabditis_elegans		WBGENE00000993
caenorhabditis_elegans		WBGENE00008985
caenorhabditis_elegans		WBGENE00008986
caenorhabditis_elegans		WBGENE00011424
caenorhabditis_elegans		WBGENE00022809
caenorhabditis_elegans		WBGENE00219274

Paralogs (13): RDH8 (ENSG00000080511), DHRS7 (ENSG00000100612), DHRS2 (ENSG00000100867), HSD11B1 (ENSG00000117594), HSDL2 (ENSG00000119471), DHRS4 (ENSG00000157326), DHRS1 (ENSG00000157379), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630), DHRS11 (ENSG00000278535)

Protein

Protein identifiers

Peroxisomal reductase activating PPAR-gamma — Q6IAN0 (reviewed: Q6IAN0)

Alternative names: Dehydrogenase/reductase SDR family member 7B, Short-chain dehydrogenase/reductase family 32C member 1

All UniProt accessions (6): Q6IAN0, A0A0C4DGQ8, J3KRS1, J3QKT1, J3QLJ8, J3QLK1

UniProt curated annotations — full annotation on UniProt →

Function. Reductase required for adipogenesis and activation of PPARG nuclear receptor. Can convert acyl and alkyl dihydroxyacetone-phosphate (DHAP) into glycerolipids and ether lipids, respectively, synthesizing ether-linked phospholipids that act as agonists for PPARG. Also regulates adipogenesis by preventing adipocyte browning: following import into the nucleus, interacts with PRDM16, inhibiting the interaction between PRDM16 and PPARG and preventing differentiation of brown adipocytes.

Subunit / interactions. Interacts with PRDM16; preventing the interaction between PRDM16 and PPARG.

Subcellular location. Peroxisome membrane. Endoplasmic reticulum membrane. Nucleus.

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

RefSeq proteins (6): NP_001317088, NP_001380586, NP_001380587, NP_001380588, NP_001380589, NP_056325* (*=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

Catalyzed reactions (Rhea), 2 shown:

• 1-hexadecanoyl-sn-glycero-3-phosphate + NADP(+) = 1-hexadecanoylglycerone 3-phosphate + NADPH + H(+) (RHEA:17341)
• a 1-O-alkylglycerone 3-phosphate + NADPH + H(+) = a 1-O-alkyl-sn-glycero-3-phosphate + NADP(+) (RHEA:36175)

UniProt features (15 total): binding site 6, sequence conflict 3, topological domain 2, chain 1, transmembrane region 1, short sequence motif 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IAN0-F1	92.82	0.85

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): 207 (proton acceptor)

Ligand- & substrate-binding residues (6): 211; 242; 62; 64; 194; 207

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-75896	Plasmalogen biosynthesis

MSigDB gene sets: 100 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOCC_MICROBODY_MEMBRANE, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, BERENJENO_TRANSFORMED_BY_RHOA_UP, BURTON_ADIPOGENESIS_6, NUYTTEN_EZH2_TARGETS_DN, GOCC_MICROBODY, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, MULLIGHAN_MLL_SIGNATURE_1_UP, YOSHIMURA_MAPK8_TARGETS_UP

GO Biological Process (1): ether lipid biosynthetic process (GO:0008611)

GO Molecular Function (3): acylglycerone-phosphate reductase (NADP+) activity (GO:0000140), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)

GO Cellular Component (5): peroxisomal membrane (GO:0005778), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Wax and plasmalogen biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
lipid biosynthetic process	1
ether lipid metabolic process	1
glycerol ether biosynthetic process	1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
catalytic activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
peroxisome	1
microbody membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3309 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHRS7B	SARDH	Q9UL12	661
DHRS7B	GNPAT	O15228	597
DHRS7B	TLCD1	Q96CP7	561
DHRS7B	AGPS	O00116	489
DHRS7B	NATD1	Q8N6N6	480
DHRS7B	KLHL18	O94889	474
DHRS7B	MEIOB	Q8N635	473
DHRS7B	TYSND1	Q2T9J0	471
DHRS7B	DHRS1	Q96LJ7	448
DHRS7B	E9PNW1	E9PNW1	419
DHRS7B	TMEM11	P17152	414
DHRS7B	CCDC144NL	Q6NUI1	398
DHRS7B	MAP2K3	P46734	394
DHRS7B	C16orf89	Q6UX73	393
DHRS7B	PGS1	Q32NB8	389

IntAct

96 interactions, top by confidence:

A	B	Type	Score
HRAS	RAF1	psi-mi:“MI:0914”(association)	0.980
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
DPEP1	ILVBL	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
	TK2	psi-mi:“MI:0915”(physical association)	0.400
GOLT1B		psi-mi:“MI:0914”(association)	0.350
NFKB1	NFKB1	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	ACOT7	psi-mi:“MI:0914”(association)	0.350
BABAM2	RPN2	psi-mi:“MI:0914”(association)	0.350
ARHGAP31	TIMM23	psi-mi:“MI:0914”(association)	0.350

BioGRID (125): DHRS7B (Affinity Capture-MS), DHRS7B (Co-fractionation), RAB7A (Co-fractionation), DHRS7B (Proximity Label-MS), DHRS7B (Proximity Label-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-RNA), DHRS7B (Proximity Label-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), DHRS7B (Affinity Capture-MS)

ESM2 similar proteins: A0PJE2, A4FUZ6, A6QP05, D2WKD9, F1QWW8, O49213, O66148, O75884, O88736, O88851, P13653, P15904, P23591, P30043, P52556, P56658, P56937, Q06136, Q0IH28, Q0VCN1, Q0VFE7, Q13630, Q2KIJ5, Q3T0R4, Q41578, Q42850, Q566S6, Q59987, Q5R6U1, Q5RBE5, Q5RJY4, Q5ZID0, Q62904, Q66KC4, Q67WR2, Q6GV12, Q6IAN0, Q6P5L8, Q6PAY8, Q7XKF3

Diamond homologs: A0A017SE81, A0A0E3D8L9, A0A0U1LQE2, A0A140JWS5, A0A1U8QWA2, A0A5B8YU68, A0QYC2, A7IQF2, C0KTJ6, G0RH19, G4N286, G9N4A9, O16881, O55240, P05406, P0CU71, P0DKC7, P14061, P25970, P35731, P37694, P37959, P40471, P42317, P43713, P45200, P45375, P50160, P50203, P51658, P54554, P55006, P55336, P80873, Q04520, Q09851, Q0IH28, Q0VFE7, Q1QU27, Q1R183

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1166 predictions. Top by Δscore:

Variant	Effect	Δscore
17:21144026:GGTTC:G	donor_gain	1.0000
17:21172017:GGAA:G	acceptor_gain	1.0000
17:21172162:G:GA	donor_gain	1.0000
17:21172196:GGTG:G	donor_loss	1.0000
17:21172197:G:T	donor_loss	1.0000
17:21172198:T:G	donor_loss	1.0000
17:21180940:G:GT	donor_gain	1.0000
17:21183806:GAAAG:G	donor_gain	1.0000
17:21183808:AAGG:A	donor_loss	1.0000
17:21183810:GGT:G	donor_loss	1.0000
17:21183811:GTAAC:G	donor_loss	1.0000
17:21183812:T:G	donor_loss	1.0000
17:21188704:T:G	acceptor_gain	1.0000
17:21126958:G:GT	donor_gain	0.9900
17:21172006:T:TA	acceptor_gain	0.9900
17:21172007:G:A	acceptor_gain	0.9900
17:21172013:TCCA:T	acceptor_loss	0.9900
17:21172014:CCA:C	acceptor_loss	0.9900
17:21172015:CAGG:C	acceptor_loss	0.9900
17:21172016:A:AC	acceptor_loss	0.9900
17:21172016:A:AG	acceptor_gain	0.9900
17:21172016:AG:A	acceptor_gain	0.9900
17:21172017:G:GG	acceptor_gain	0.9900
17:21172017:GG:G	acceptor_gain	0.9900
17:21172017:GGA:G	acceptor_gain	0.9900
17:21172122:A:AG	donor_gain	0.9900
17:21172123:G:GG	donor_gain	0.9900
17:21172135:G:GT	donor_gain	0.9900
17:21172161:T:TA	donor_gain	0.9900
17:21172166:A:AG	donor_gain	0.9900

AlphaMissense

2100 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:21184421:A:C	S193R	0.996
17:21184423:C:A	S193R	0.996
17:21184423:C:G	S193R	0.996
17:21184424:A:C	S194R	0.996
17:21184426:C:A	S194R	0.996
17:21184426:C:G	S194R	0.996
17:21188720:C:T	S210F	0.996
17:21183720:A:C	S146R	0.994
17:21183722:C:A	S146R	0.994
17:21183722:C:G	S146R	0.994
17:21188720:C:A	S210Y	0.994
17:21184463:T:C	Y207H	0.992
17:21188724:G:C	K211N	0.992
17:21188724:G:T	K211N	0.992
17:21188751:T:G	C220W	0.992
17:21183727:G:C	R148P	0.991
17:21188717:C:A	A209D	0.991
17:21188753:T:C	L221P	0.991
17:21188816:C:T	T242I	0.991
17:21184425:G:T	S194I	0.990
17:21183782:C:A	N166K	0.989
17:21183782:C:G	N166K	0.989
17:21184413:T:A	V190D	0.989
17:21188797:A:C	S236R	0.989
17:21188799:C:A	S236R	0.989
17:21188799:C:G	S236R	0.989
17:21183726:C:A	R148S	0.988
17:21184442:A:C	S200R	0.988
17:21184444:C:A	S200R	0.988
17:21184444:C:G	S200R	0.988

dbSNP variants (sampled 300 via entrez): RS1000036376 (17:21167823 A>G), RS1000113713 (17:21156118 A>G), RS1000231815 (17:21160888 A>G,T), RS1000286181 (17:21136624 T>C), RS1000362300 (17:21131968 A>G), RS1000404512 (17:21154323 A>C,T), RS1000416043 (17:21175804 C>G), RS1000418377 (17:21173778 G>T), RS1000435634 (17:21154573 G>A), RS1000502031 (17:21189485 T>A,C), RS1000545729 (17:21138608 T>C), RS1000645298 (17:21131731 G>A), RS1000722124 (17:21145165 A>G), RS1000734539 (17:21155705 A>C), RS1000764341 (17:21156012 A>G)

Disease associations

OMIM: gene MIM:616160 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002039_6	Blood trace element (Se levels)	1.000000e-06
GCST005951_14	Body mass index	5.000000e-10
GCST008032_8	Fasting blood glucose	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression, increases abundance	1
aflatoxin B2	increases methylation	1
perfluorooctane sulfonic acid	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
bisphenol S	affects expression	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
NADP	affects binding, increases activity	1
Selenium	increases expression	1
Smoke	increases abundance, increases expression	1
Tunicamycin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Isotretinoin	decreases expression	1
Aflatoxin B1	affects methylation	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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