ALDH3B2

Summary

ALDH3B2 (aldehyde dehydrogenase 3 family member B2, HGNC:411) is a protein-coding gene on chromosome 11q13.2, encoding Aldehyde dehydrogenase family 3 member B2 (P48448). Oxidizes medium and long chain fatty aldehydes in lipid droplets into non-toxic fatty acids.

This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity.

Source: NCBI Gene 222 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 67 total
• Druggable target: yes
• MANE Select transcript: NM_001393402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:411
Approved symbol	ALDH3B2
Name	aldehyde dehydrogenase 3 family member B2
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000132746
Ensembl biotype	protein_coding
OMIM	601917
Entrez	222

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000349015, ENST00000525827, ENST00000528756, ENST00000530069, ENST00000531248, ENST00000531881, ENST00000533962, ENST00000534425, ENST00000673808, ENST00000673873, ENST00000673966, ENST00000674110

RefSeq mRNA: 5 — MANE Select: NM_001393402 NM_001031615, NM_001354345, NM_001393400, NM_001393401, NM_001393402

CCDS: CCDS31622

Canonical transcript exons

ENST00000673966 — 10 exons

Exon	Start	End
ENSE00000904456	67663662	67663761
ENSE00002442008	67664396	67664562
ENSE00002467257	67667473	67667635
ENSE00003514097	67666316	67666401
ENSE00003570758	67666574	67666694
ENSE00003626930	67666906	67667016
ENSE00003649354	67665285	67665671
ENSE00003691017	67666122	67666203
ENSE00003897235	67674436	67674623
ENSE00003897994	67662155	67663399

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 98.08.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0747 / max 102.8406, expressed in 203 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120974	0.4858	158
120972	0.4636	152
120976	0.0952	57
120975	0.0301	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.08	gold quality
upper leg skin	UBERON:0004262	97.89	gold quality
esophagus mucosa	UBERON:0002469	96.46	gold quality
skin of leg	UBERON:0001511	96.42	gold quality
upper arm skin	UBERON:0004263	96.34	gold quality
mammalian vulva	UBERON:0000997	96.28	gold quality
skin of abdomen	UBERON:0001416	96.23	gold quality
gingival epithelium	UBERON:0001949	96.10	gold quality
zone of skin	UBERON:0000014	95.77	gold quality
gingiva	UBERON:0001828	95.55	gold quality
esophagus squamous epithelium	UBERON:0006920	93.77	gold quality
squamous epithelium	UBERON:0006914	93.57	gold quality
epithelium of esophagus	UBERON:0001976	93.29	gold quality
oral cavity	UBERON:0000167	92.73	gold quality
parotid gland	UBERON:0001831	91.76	gold quality
tongue squamous epithelium	UBERON:0006919	90.76	gold quality
penis	UBERON:0000989	90.08	gold quality
cervix squamous epithelium	UBERON:0006922	89.54	gold quality
nipple	UBERON:0002030	89.40	gold quality
skin of hip	UBERON:0001554	87.47	gold quality
pharyngeal mucosa	UBERON:0000355	84.61	gold quality
vagina	UBERON:0000996	84.01	gold quality
hair follicle	UBERON:0002073	83.96	silver quality
tonsil	UBERON:0002372	83.66	gold quality
nasal cavity epithelium	UBERON:0005384	83.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.12	gold quality
cervix epithelium	UBERON:0004801	83.00	gold quality
endometrium epithelium	UBERON:0004811	82.91	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	81.86	gold quality
mouth mucosa	UBERON:0003729	81.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting ALDH3B2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-2467-3P	98.65	67.18	1969

Literature-anchored findings (GeneRIF, showing 2)

• Despite premature stop codon in DNA and mRNA sequences, full-length ALDH3B2 was found. It can be formed as a result of premature stop codon readthrough, complex phenomenon enabling stop codon circumvention. (PMID:31847104)
• Aldehyde dehydrogenase 3B2 promotes the proliferation and invasion of cholangiocarcinoma by increasing Integrin Beta 1 expression. (PMID:34907179)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldh3b1	ENSDARG00000013839
mus_musculus	Aldh3b3	ENSMUSG00000037263
mus_musculus	Aldh3b2	ENSMUSG00000075296
rattus_norvegicus	Aldh3b2	ENSRNOG00000017872
rattus_norvegicus	Aldh3b2	ENSRNOG00000066970
rattus_norvegicus	Aldh3b2	ENSRNOG00000068138
rattus_norvegicus		ENSRNOG00000085758
drosophila_melanogaster	Aldh-III	FBGN0010548
caenorhabditis_elegans		WBGENE00000107
caenorhabditis_elegans		WBGENE00000108

Paralogs (17): ALDH3B1 (ENSG00000006534), ALDH3A2 (ENSG00000072210), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH5A1 (ENSG00000112294), ALDH8A1 (ENSG00000118514), ALDH6A1 (ENSG00000119711), ALDH1A2 (ENSG00000128918), ALDH1L2 (ENSG00000136010), ALDH1B1 (ENSG00000137124), ALDH9A1 (ENSG00000143149), ALDH1L1 (ENSG00000144908), ALDH4A1 (ENSG00000159423), ALDH16A1 (ENSG00000161618), ALDH7A1 (ENSG00000164904), ALDH1A1 (ENSG00000165092), ALDH1A3 (ENSG00000184254)

Protein

Protein identifiers

Aldehyde dehydrogenase family 3 member B2 — P48448 (reviewed: P48448)

Alternative names: Aldehyde dehydrogenase 8, Long-chain fatty aldehyde dehydrogenase

All UniProt accessions (8): P48448, A0A669KAV1, A0A669KB42, A0A669KBB2, A0A669KBD2, E9PJV0, E9PKY9, H0YEC0

UniProt curated annotations — full annotation on UniProt →

Function. Oxidizes medium and long chain fatty aldehydes in lipid droplets into non-toxic fatty acids.

Subcellular location. Lipid droplet.

Tissue specificity. Salivary gland. Expressed at protein level in placenta.

Post-translational modifications. Geranylgeranylation is important for localization to lipid droplets and enzyme activity.

Pathway. Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.

Similarity. Belongs to the aldehyde dehydrogenase family.

RefSeq proteins (5): NP_001026786, NP_001341274, NP_001380329, NP_001380330, NP_001380331* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012394	Aldehyde_DH_NAD(P)	Family
IPR015590	Aldehyde_DH_dom	Domain
IPR016160	Ald_DH_CS_CYS	Conserved_site
IPR016161	Ald_DH/histidinol_DH	Homologous_superfamily
IPR016162	Ald_DH_N	Homologous_superfamily
IPR016163	Ald_DH_C	Homologous_superfamily
IPR029510	Ald_DH_CS_GLU	Conserved_site

Pfam: PF00171

Catalyzed reactions (Rhea), 5 shown:

• a long-chain fatty aldehyde + NAD(+) + H2O = a long-chain fatty acid + NADH + 2 H(+) (RHEA:10652)
• an aldehyde + NAD(+) + H2O = a carboxylate + NADH + 2 H(+) (RHEA:16185)
• hexadecanoate + NADH + 2 H(+) = hexadecanal + NAD(+) + H2O (RHEA:33739)
• octanal + NAD(+) + H2O = octanoate + NADH + 2 H(+) (RHEA:44100)
• a medium-chain fatty aldehyde + NAD(+) + H2O = a medium-chain fatty acid + NADH + 2 H(+) (RHEA:69763)

UniProt features (18 total): sequence variant 7, sequence conflict 4, active site 2, chain 1, propeptide 1, binding site 1, modified residue 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48448-F1	95.16	0.88

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 (2): 129; 163

Ligand- & substrate-binding residues (1): 107–112

Post-translational modifications (2): 382, 382

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9845614	Sphingolipid catabolism
R-HSA-1430728	Metabolism
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 104 (showing top): FARMER_BREAST_CANCER_CLUSTER_7, JAEGER_METASTASIS_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, KYNG_DNA_DAMAGE_DN, BROWNE_HCMV_INFECTION_16HR_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, chr11q13, KEGG_HISTIDINE_METABOLISM, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (5): alcohol metabolic process (GO:0006066), ethanol catabolic process (GO:0006068), aldehyde metabolic process (GO:0006081), lipid metabolic process (GO:0006629), sphingolipid catabolic process (GO:0030149)

GO Molecular Function (8): 3-chloroallyl aldehyde dehydrogenase activity (GO:0004028), aldehyde dehydrogenase (NAD+) activity (GO:0004029), aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030), long-chain fatty aldehyde dehydrogenase (NAD+) activity (GO:0050061), medium-chain fatty aldehyde dehydrogenase (NAD+) activity (GO:0052814), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)

GO Cellular Component (3): cytoplasm (GO:0005737), lipid droplet (GO:0005811), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	2
fatty aldehyde dehydrogenase (NAD+) activity	2
cellular anatomical structure	2
small molecule metabolic process	1
ethanol metabolic process	1
primary alcohol catabolic process	1
metabolic process	1
primary metabolic process	1
sphingolipid metabolic process	1
lipid catabolic process	1
aldehyde dehydrogenase [NAD(P)+] activity	1
binding	1
catalytic activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3263 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDH3B2	ALDH16A1	Q8IZ83	612
ALDH3B2	ALDH18A1	P54886	589
ALDH3B2	ADH7	P40394	532
ALDH3B2	ADH1C	P00326	459
ALDH3B2	ADH4	P08319	451
ALDH3B2	ADH1A	P07327	432
ALDH3B2	ELMOD2	Q8IZ81	425
ALDH3B2	ADH1B	P00325	420
ALDH3B2	GPR68	Q15743	389
ALDH3B2	ADH5	P11766	384
ALDH3B2	FMO5	P49326	361
ALDH3B2	ADH6	P28332	361
ALDH3B2	ALDH9A1	P49189	358
ALDH3B2	SUOX	P51687	350
ALDH3B2	FLACC1	Q96Q35	348

IntAct

7 interactions, top by confidence:

A	B	Type	Score
ALDH3B2	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B2	ALDH3B1	psi-mi:“MI:0914”(association)	0.560
KCMF1	MDK	psi-mi:“MI:0914”(association)	0.350
ALDH3B2	GALT	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): CLGN (Affinity Capture-MS), OBSL1 (Affinity Capture-MS), ALDH3B1 (Affinity Capture-MS), COX16 (Affinity Capture-MS), ZMYM2 (Affinity Capture-MS), ALDH3B2 (Affinity Capture-MS), ALDH3B1 (Affinity Capture-MS), ALDH3B2 (Affinity Capture-RNA), ALDH3B1 (Affinity Capture-MS), TIMM17A (Affinity Capture-MS), FAS (Affinity Capture-MS), SFXN2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS)

ESM2 similar proteins: A3RF36, E9Q3E1, J3QMK6, P05091, P11883, P11884, P15437, P20000, P30837, P30838, P30839, P30907, P43353, P47738, P47739, P47740, P47895, P48448, P48644, P49189, P51648, P51649, P51650, P51977, P56533, P81178, Q19A30, Q1JPA0, Q2KJH9, Q2XQV4, Q3MSM3, Q3MSM4, Q54DG1, Q5R6B5, Q5RF00, Q5RF60, Q5XI42, Q60HH8, Q66HF8, Q6A2H0

Diamond homologs: A0A7W3RCJ3, A3M365, A3RF36, A4JJG5, A4XPI6, A7FKL5, A9AN00, B0RNV0, B0V944, B0VST2, B2FQ90, B2HV80, B4SHW0, B7GYG4, B7I896, C6KEM4, C7A2A0, D5E1S7, E9Q3E1, F6IBC7, J3QMK6, O04895, O05619, O24174, O59808, O74187, O86447, P08157, P0DPF0, P11883, P12693, P17202, P25553, P30838, P30839, P30840, P30907, P32872, P39616, P40108

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1574 predictions. Top by Δscore:

Variant	Effect	Δscore
11:67663395:GTGGC:G	acceptor_gain	1.0000
11:67663396:TGGC:T	acceptor_gain	1.0000
11:67663397:GGC:G	acceptor_gain	1.0000
11:67663399:CC:C	acceptor_loss	1.0000
11:67663399:CCTG:C	acceptor_gain	1.0000
11:67663400:C:CC	acceptor_gain	1.0000
11:67663402:G:C	acceptor_gain	1.0000
11:67663402:G:GC	acceptor_gain	1.0000
11:67663404:G:C	acceptor_gain	1.0000
11:67663632:C:A	donor_gain	1.0000
11:67663667:C:CA	donor_gain	1.0000
11:67663668:C:A	donor_gain	1.0000
11:67663758:CAAC:C	acceptor_gain	1.0000
11:67663760:ACCTG:A	acceptor_loss	1.0000
11:67663763:T:G	acceptor_loss	1.0000
11:67664391:CCCA:C	donor_loss	1.0000
11:67664392:CCAC:C	donor_loss	1.0000
11:67664394:ACCTG:A	donor_loss	1.0000
11:67664395:C:CG	donor_loss	1.0000
11:67664395:CCTGG:C	donor_gain	1.0000
11:67664419:A:AC	donor_gain	1.0000
11:67664420:C:CC	donor_gain	1.0000
11:67664420:CAGGG:C	donor_gain	1.0000
11:67664558:GGGGG:G	acceptor_gain	1.0000
11:67664559:GGGG:G	acceptor_gain	1.0000
11:67664560:GGG:G	acceptor_gain	1.0000
11:67664560:GGGCT:G	acceptor_loss	1.0000
11:67664561:GG:G	acceptor_gain	1.0000
11:67664563:C:CC	acceptor_gain	1.0000
11:67664563:CTG:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000138253 (11:67669668 G>A), RS1000167407 (11:67663841 T>A), RS1000287533 (11:67673822 G>A), RS1000325319 (11:67681581 T>C), RS1000812218 (11:67674554 C>T), RS1000930459 (11:67680042 A>G,T), RS1000977817 (11:67682903 C>T), RS1001112444 (11:67679850 T>C), RS1001248079 (11:67676354 G>A), RS1001296174 (11:67664062 G>A,T), RS1001338767 (11:67674174 G>C), RS1001348326 (11:67664245 G>A,T), RS1001392625 (11:67662528 TTA>T), RS1001485082 (11:67679810 G>GA), RS1001850813 (11:67679583 T>C,G)

Disease associations

OMIM: gene MIM:601917 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012227_672	Hip circumference adjusted for BMI	1.000000e-11

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: yes

ChEMBL targets (1): CHEMBL3542434 (PROTEIN FAMILY)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	3
mercuric bromide	increases expression, affects cotreatment	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenate	decreases expression, increases abundance	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	affects expression	1
arsenite	decreases expression, increases abundance	1
sodium arsenite	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
gallium arsenide	decreases expression	1
antimonite	decreases expression, increases abundance	1
glycidamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Antimony Potassium Tartrate	increases abundance, decreases expression	1
Calcitriol	increases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Formaldehyde	increases expression	1
Methapyrilene	increases methylation	1
Progesterone	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Isotretinoin	decreases expression	1

Clinical trials (associated diseases)

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