ALDH3B1

Summary

ALDH3B1 (aldehyde dehydrogenase 3 family member B1, HGNC:410) is a protein-coding gene on chromosome 11q13.2, encoding Aldehyde dehydrogenase family 3 member B1 (P43353). Oxidizes medium and long chain saturated and unsaturated fatty aldehydes generated in the plasma membrane into non-toxic fatty acids.

This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 221 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 29 total
• Druggable target: yes
• MANE Select transcript: NM_000694

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:410
Approved symbol	ALDH3B1
Name	aldehyde dehydrogenase 3 family member B1
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000006534
Ensembl biotype	protein_coding
OMIM	600466
Entrez	221

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 18 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000342456, ENST00000527514, ENST00000612297, ENST00000614849, ENST00000615368, ENST00000616697, ENST00000617288, ENST00000617449, ENST00000619675, ENST00000894326, ENST00000894327, ENST00000894328, ENST00000894329, ENST00000894330, ENST00000894331, ENST00000894332, ENST00000894333, ENST00000894334, ENST00000894335, ENST00000894336, ENST00000894337

RefSeq mRNA: 5 — MANE Select: NM_000694 NM_000694, NM_001030010, NM_001161473, NM_001290058, NM_001290059

CCDS: CCDS73335, CCDS73336, CCDS76443

Canonical transcript exons

ENST00000342456 — 10 exons

Exon	Start	End
ENSE00001361325	68027749	68029276
ENSE00003481195	68019170	68019255
ENSE00003490052	68022595	68022761
ENSE00003517726	68019715	68019796
ENSE00003523451	68018773	68018893
ENSE00003569030	68026009	68026108
ENSE00003682036	68015297	68015459
ENSE00003719463	68018527	68018637
ENSE00003720218	68021485	68021871
ENSE00003725340	68010327	68010392

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 98.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7882 / max 312.3710, expressed in 1393 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115509	10.1888	1359
115510	2.2337	790
115507	0.3080	134
115508	0.0577	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.57	gold quality
epithelium of bronchus	UBERON:0002031	98.50	gold quality
bronchus	UBERON:0002185	98.23	gold quality
right uterine tube	UBERON:0001302	97.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.23	gold quality
nasal cavity epithelium	UBERON:0005384	95.72	gold quality
monocyte	CL:0000576	94.71	gold quality
mononuclear cell	CL:0000842	94.47	gold quality
leukocyte	CL:0000738	94.25	gold quality
right lung	UBERON:0002167	93.59	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.35	gold quality
granulocyte	CL:0000094	92.39	gold quality
diaphragm	UBERON:0001103	92.36	silver quality
type B pancreatic cell	CL:0000169	92.25	gold quality
olfactory bulb	UBERON:0002264	92.03	gold quality
upper lobe of left lung	UBERON:0008952	91.73	gold quality
upper lobe of lung	UBERON:0008948	91.47	gold quality
trachea	UBERON:0003126	91.28	gold quality
tibial nerve	UBERON:0001323	90.82	gold quality
vena cava	UBERON:0004087	90.27	gold quality
nasal cavity mucosa	UBERON:0001826	90.21	gold quality
right adrenal gland	UBERON:0001233	90.13	gold quality
blood	UBERON:0000178	89.91	gold quality
right adrenal gland cortex	UBERON:0035827	89.48	gold quality
adrenal cortex	UBERON:0001235	89.30	gold quality
left adrenal gland cortex	UBERON:0035825	89.28	gold quality
left ventricle myocardium	UBERON:0006566	89.12	gold quality
left adrenal gland	UBERON:0001234	88.99	gold quality
buccal mucosa cell	CL:0002336	88.43	silver quality
lung	UBERON:0002048	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	yes	11.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT1

miRNA regulators (miRDB)

56 targeting ALDH3B1, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4306	99.72	70.50	3630
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-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4254	99.11	65.15	1315

Literature-anchored findings (GeneRIF, showing 9)

• Initial characterization of human ALDH3B1 suggests a potential physiological role of this protein in oxidative stress processes. (PMID:17382292)
• This study shows for the first time the functionality, expression and protective role of ALDH3B1 and indicates a potential physiological role of ALDH3B1 against oxidative stress. (PMID:17382292)
• These findings provided convincing evidence that epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes plays an important role in the pathogenesis of schizophrenia (PMID:19159868)
• protects cells from the damaging effects of oxidative stress (PMID:20699116)
• The specificity of ALDH3B1 distribution may prove to be directly related to the functional role of this enzyme in human tissues. (PMID:20729348)
• the likely physiological function of ALDH3B1 is to oxidize lipid-derived aldehydes generated in the plasma membrane and not to be involved in the sphingolipid metabolism in the endoplasmic reticulum. (PMID:23721920)
• ALDH3B1 Is an Independent Prognostic Biomarker of Lung Adenocarcinoma. (PMID:32744175)
• [ALDH3B1 expression is correlated with histopathology and long-term prognosis of gastric cancer]. (PMID:35673905)
• Potential clinical significance of ALDH3B1 in auxiliary diagnosis of gastric cancer. (PMID:38334412)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldh3a2a	ENSDARG00000028259
danio_rerio	aldh3a2b	ENSDARG00000029381
danio_rerio	aldh3b4	ENSDARG00000035606
danio_rerio	aldh9a1b	ENSDARG00000037061
mus_musculus	Aldh3b1	ENSMUSG00000024885
rattus_norvegicus	Aldh3b1	ENSRNOG00000017512
drosophila_melanogaster	CG8665	FBGN0032945
drosophila_melanogaster	CG31075	FBGN0051075
caenorhabditis_elegans		WBGENE00000107
caenorhabditis_elegans		WBGENE00000108
caenorhabditis_elegans		WBGENE00000109
caenorhabditis_elegans		WBGENE00000110
caenorhabditis_elegans		WBGENE00000111

Paralogs (17): ALDH3A2 (ENSG00000072210), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH5A1 (ENSG00000112294), ALDH8A1 (ENSG00000118514), ALDH6A1 (ENSG00000119711), ALDH1A2 (ENSG00000128918), ALDH3B2 (ENSG00000132746), 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 B1 — P43353 (reviewed: P43353)

Alternative names: Aldehyde dehydrogenase 7, Long-chain fatty aldehyde dehydrogenase, Medium-chain fatty aldehyde dehydrogenase

All UniProt accessions (6): P43353, A0A087WTE0, A0A087WU54, A0A087WUF8, A0A087X192, A0A087X2D4

UniProt curated annotations — full annotation on UniProt →

Function. Oxidizes medium and long chain saturated and unsaturated fatty aldehydes generated in the plasma membrane into non-toxic fatty acids. May have a protective role against the cytotoxicity induced by lipid peroxidation. Short-chain fatty aldehydes are not good substrates. Can use both NADP(+) and NAD(+) as electron acceptor in vitro, however in vivo preference will depend on their tissue levels. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. Able to metabolize aromatic aldehydes such as benzaldehyde to their acid form.

Subcellular location. Cell membrane.

Tissue specificity. Highest expression in kidney and lung.

Post-translational modifications. Dually lipidated in the C-terminus; prenylation occurs prior to, and is a prerequisite for palmitoylation. It is also required for activity towards long-chain substrates.

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

Similarity. Belongs to the aldehyde dehydrogenase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P43353-1	1	yes
P43353-2	2

RefSeq proteins (5): NP_000685, NP_001025181, NP_001154945, NP_001276987, NP_001276988 (=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

Enzyme classification (BRENDA):

• EC 1.2.1.5 — aldehyde dehydrogenase [NAD(P)+] (BRENDA: 19 organisms, 218 substrates, 93 inhibitors, 198 Km, 45 kcat entries)

Substrate kinetics (BRENDA)

57 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
NAD+	0.003–35	30
NADP+	0.01–260	22
BENZALDEHYDE	0.013–4.15	17
ACETALDEHYDE	0.0002–393.4	16
PROPANAL	0.0004–19.06	14
CHLOROACETALDEHYDE	0.01–0.46	7
3,4-DIHYDROXYPHENYLACETALDEHYDE	0.0004–0.015	5
2-BROMOBENZALDEHYDE	0.012–0.379	4
2-FLUOROBENZALDEHYDE	0.008–0.822	4
PROPIONALDEHYDE	0.46–12	4
2-CHLOROBENZALDEHYDE	0.006–0.063	3
4-BROMOBENZALDEHYDE	0.039–0.617	3
4-CHLOROBENZALDEHYDE	0.031–1.159	3
4-FLUOROBENZALDEHYDE	0.012–2.057	3
4-IODOBENZALDEHYDE	0.081–1.103	3

Catalyzed reactions (Rhea), 12 shown:

• a long-chain fatty aldehyde + NAD(+) + H2O = a long-chain fatty acid + NADH + 2 H(+) (RHEA:10652)
• benzaldehyde + NAD(+) + H2O = benzoate + NADH + 2 H(+) (RHEA:11840)
• an aldehyde + NADP(+) + H2O = a carboxylate + NADPH + 2 H(+) (RHEA:11888)
• an aldehyde + NAD(+) + H2O = a carboxylate + NADH + 2 H(+) (RHEA:16185)
• benzaldehyde + NADP(+) + H2O = benzoate + NADPH + 2 H(+) (RHEA:21660)
• hexadecanoate + NADH + 2 H(+) = hexadecanal + NAD(+) + H2O (RHEA:33739)
• (2E)-hexadecenal + NAD(+) + H2O = (E)-hexadec-2-enoate + NADH + 2 H(+) (RHEA:36135)
• octanal + NAD(+) + H2O = octanoate + NADH + 2 H(+) (RHEA:44100)
• octanal + NADP(+) + H2O = octanoate + NADPH + 2 H(+) (RHEA:59904)
• hexanal + NADP(+) + H2O = hexanoate + NADPH + 2 H(+) (RHEA:59908)
• (E)-4-hydroxynon-2-enal + NADP(+) + H2O = (E)-4-hydroxynon-2-enoate + NADPH + 2 H(+) (RHEA:59912)
• (2E)-octenal + NADP(+) + H2O = (2E)-octenoate + NADPH + 2 H(+) (RHEA:59916)

UniProt features (10 total): active site 2, modified residue 2, lipid moiety-binding region 2, chain 1, propeptide 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P43353-F1	96.36	0.95

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): 210; 244

Ligand- & substrate-binding residues (1): 188–193

Post-translational modifications (4): 1, 465, 463, 465

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-9845614	Sphingolipid catabolism
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 200 (showing top): MODULE_93, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_ALDEHYDE_CATABOLIC_PROCESS, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, USF_C, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, chr11q13, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, KEGG_HISTIDINE_METABOLISM, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOZGIT_ESR1_TARGETS_UP, MODULE_373

GO Biological Process (8): alcohol metabolic process (GO:0006066), ethanol catabolic process (GO:0006068), aldehyde metabolic process (GO:0006081), lipid metabolic process (GO:0006629), response to oxidative stress (GO:0006979), sphingolipid catabolic process (GO:0030149), cellular response to oxidative stress (GO:0034599), aldehyde catabolic process (GO:0046185)

GO Molecular Function (11): 3-chloroallyl aldehyde dehydrogenase activity (GO:0004028), aldehyde dehydrogenase (NAD+) activity (GO:0004029), aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030), benzaldehyde dehydrogenase (NADP+) activity (GO:0018477), benzaldehyde dehydrogenase (NAD+) activity (GO:0018479), 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), aldehyde dehydrogenase (NADP+) activity (GO:0033721)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), vesicle (GO:0031982), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Innate Immune System	1
Sphingolipid metabolism	1
Immune System	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	2
aldehyde dehydrogenase [NAD(P)+] activity	2
fatty aldehyde dehydrogenase (NAD+) activity	2
small molecule metabolic process	1
ethanol metabolic process	1
primary alcohol catabolic process	1
metabolic process	1
primary metabolic process	1
response to stress	1
sphingolipid metabolic process	1
lipid catabolic process	1
response to oxidative stress	1
cellular response to chemical stress	1
aldehyde metabolic process	1
catabolic process	1
aldehyde dehydrogenase (NADP+) activity	1
aldehyde dehydrogenase (NAD+) activity	1
binding	1
catalytic activity	1
oxidoreductase activity, acting on the aldehyde or oxo group of donors	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
secretory granule	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
membrane-bounded organelle	1
secretory granule membrane	1
specific granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

3396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDH3B1	NDUFS8	O00217	780
ALDH3B1	ALDH18A1	P54886	680
ALDH3B1	ADH4	P08319	560
ALDH3B1	ALDH16A1	Q8IZ83	512
ALDH3B1	COMT	P21964	453
ALDH3B1	ADH7	P40394	452
ALDH3B1	AKR1B10	O60218	445
ALDH3B1	TIGAR	Q9NQ88	444
ALDH3B1	AKR1B1	P15121	435
ALDH3B1	AKR1A1	P14550	421
ALDH3B1	MAOA	P21397	418
ALDH3B1	LAIR1	Q6GTX8	416
ALDH3B1	AVP	P01185	407
ALDH3B1	ATP11A	P98196	392
ALDH3B1	ADH1C	P00326	391

IntAct

110 interactions, top by confidence:

A	B	Type	Score
NUF2	NDC80	psi-mi:“MI:0914”(association)	0.950
GFAP	VIM	psi-mi:“MI:0914”(association)	0.830
TUBA1C	TXNDC9	psi-mi:“MI:0914”(association)	0.730
KRTAP10-8	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.720
ALDH3B1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
NME3	NME4	psi-mi:“MI:0914”(association)	0.640
GNAI3	RGS12	psi-mi:“MI:0914”(association)	0.640
	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	KRT31	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	KRT40	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1		psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
KRT31	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.560
ALDH3B1	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (136): KRT31 (Two-hybrid), KRTAP4-2 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), ALDH3B1 (Affinity Capture-MS), WDR73 (Affinity Capture-MS), TRIM65 (Affinity Capture-MS), TAF9 (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), OBSL1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNU3, A1A4L8, A2APY7, A2AV36, A5GFY8, A5GFZ6, A6H791, A7MBC0, A7YW45, B2GV71, B5DPF1, D4A1R8, O14744, O88202, O95396, O95571, P19623, P31754, P43353, Q28HC6, Q3KRD0, Q3T094, Q4QR99, Q4R5M3, Q5BJY6, Q5R698, Q5ZKI2, Q64674, Q66JK4, Q6AY46, Q6NS21, Q6NUA1, Q7SYK1, Q80XC2, Q86U10, Q8C166, Q8CIG8, Q8GWT4, Q8JZV7, Q96FX7

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

2 interactions.

A	Effect	B	Mechanism
FBXL12	“down-regulates quantity by destabilization”	ALDH3B1	binding
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	ALDH3B1	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 100 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Extra-nuclear estrogen signaling	5	12.5×	6e-03
Keratinization	13	10.7×	7e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1754 predictions. Top by Δscore:

Variant	Effect	Δscore
11:68008689:CCAG:C	donor_loss	1.0000
11:68008691:AGGTA:A	donor_loss	1.0000
11:68008692:GGT:G	donor_loss	1.0000
11:68008693:GT:G	donor_loss	1.0000
11:68015448:G:GT	donor_gain	1.0000
11:68018525:A:AG	acceptor_gain	1.0000
11:68018526:G:GG	acceptor_gain	1.0000
11:68018758:C:A	acceptor_gain	1.0000
11:68018759:G:A	acceptor_gain	1.0000
11:68018765:C:CA	acceptor_gain	1.0000
11:68018766:G:A	acceptor_gain	1.0000
11:68018771:A:AG	acceptor_gain	1.0000
11:68018771:AGGCC:A	acceptor_loss	1.0000
11:68018772:G:GC	acceptor_loss	1.0000
11:68018772:G:GG	acceptor_gain	1.0000
11:68018891:CAGGT:C	donor_loss	1.0000
11:68018892:AGGTG:A	donor_loss	1.0000
11:68018894:G:C	donor_loss	1.0000
11:68018895:T:G	donor_loss	1.0000
11:68019256:G:A	donor_loss	1.0000
11:68019256:G:GG	donor_gain	1.0000
11:68019257:T:G	donor_loss	1.0000
11:68019713:A:AG	acceptor_gain	1.0000
11:68019714:G:GG	acceptor_gain	1.0000
11:68019714:GA:G	acceptor_gain	1.0000
11:68019714:GAGCT:G	acceptor_gain	1.0000
11:68019795:AGGT:A	donor_loss	1.0000
11:68019796:GG:G	donor_loss	1.0000
11:68019797:GTG:G	donor_loss	1.0000
11:68019798:T:A	donor_loss	1.0000

AlphaMissense

3053 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:68018844:C:A	N115K	0.997
11:68018844:C:G	N115K	0.997
11:68022651:T:C	F336L	0.993
11:68022653:C:A	F336L	0.993
11:68022653:C:G	F336L	0.993
11:68015459:G:C	K54N	0.991
11:68015459:G:T	K54N	0.991
11:68019170:G:T	G132V	0.991
11:68019174:C:A	N133K	0.991
11:68019174:C:G	N133K	0.991
11:68022655:G:A	G337E	0.991
11:68018839:T:A	W114R	0.990
11:68018839:T:C	W114R	0.990
11:68018893:G:T	G132W	0.990
11:68021567:C:A	N215K	0.990
11:68021567:C:G	N215K	0.990
11:68018842:A:G	N115D	0.989
11:68019189:G:C	K138N	0.989
11:68019189:G:T	K138N	0.989
11:68021509:T:A	V196D	0.989
11:68021521:C:A	A200D	0.989
11:68022744:T:C	F367L	0.989
11:68022746:C:A	F367L	0.989
11:68022746:C:G	F367L	0.989
11:68021644:G:T	G241V	0.988
11:68021644:G:A	G241D	0.987
11:68021639:C:A	N239K	0.986
11:68021639:C:G	N239K	0.986
11:68018888:C:A	A130D	0.985
11:68019202:A:C	S143R	0.985

dbSNP variants (sampled 300 via entrez): RS1000024444 (11:68026585 C>A,G,T), RS1000242508 (11:68028733 G>A,T), RS1000334507 (11:68014878 C>A), RS1000442220 (11:68009469 A>G), RS1000474865 (11:68009745 C>T), RS1000540488 (11:68016805 G>A,C), RS1000672595 (11:68012100 G>A,C), RS1000724452 (11:68013795 A>G), RS1000848469 (11:68007525 C>G), RS1000890073 (11:68023613 T>A,C), RS1001075193 (11:68013419 A>G), RS1001372598 (11:68029608 C>G), RS1001452655 (11:68029078 A>T), RS1001479458 (11:68024122 G>A), RS1001585017 (11:68024139 T>C)

Disease associations

OMIM: gene MIM:600466 | 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
GCST010512_24	Serum uric acid levels	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement

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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	5
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression, decreases methylation, increases expression	3
Smoke	decreases expression, increases abundance, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Doxorubicin	decreases expression	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
TAK-243	increases sumoylation	1
apocarotenal	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
propionaldehyde	decreases expression	1
bisphenol A	increases expression	1
deoxynivalenol	decreases expression	1
lead acetate	decreases expression	1
4-nitrophenyl acetate	affects binding	1
mesitylene	increases expression	1
n-hexanal	decreases response to substance, affects binding	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium bichromate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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