ALDOC

Summary

ALDOC (aldolase, fructose-bisphosphate C, HGNC:418) is a protein-coding gene on chromosome 17q11.2, encoding Fructose-bisphosphate aldolase C (P09972). Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis.

This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively.

Source: NCBI Gene 230 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 54 total
• Druggable target: yes
• MANE Select transcript: NM_005165

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:418
Approved symbol	ALDOC
Name	aldolase, fructose-bisphosphate C
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000109107
Ensembl biotype	protein_coding
OMIM	103870
Entrez	230

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 18 protein_coding, 1 retained_intron

ENST00000226253, ENST00000395319, ENST00000395321, ENST00000435638, ENST00000460201, ENST00000578590, ENST00000581807, ENST00000582381, ENST00000584086, ENST00000854233, ENST00000854234, ENST00000854235, ENST00000854236, ENST00000918177, ENST00000918178, ENST00000918179, ENST00000949877, ENST00000949878, ENST00000949879

RefSeq mRNA: 1 — MANE Select: NM_005165 NM_005165

CCDS: CCDS11236

Canonical transcript exons

ENST00000226253 — 9 exons

Exon	Start	End
ENSE00000706694	28573735	28573934
ENSE00001656772	28574494	28574577
ENSE00001726461	28574067	28574241
ENSE00002723853	28576801	28576895
ENSE00002872258	28574952	28575006
ENSE00003529546	28575123	28575334
ENSE00003615085	28575421	28575544
ENSE00003786450	28574696	28574856
ENSE00003843474	28573120	28573621

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.8721 / max 1197.3543, expressed in 1685 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165035	25.5725	1677
165034	7.2250	625
165033	0.0747	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.86	gold quality
pons	UBERON:0000988	99.84	gold quality
right frontal lobe	UBERON:0002810	99.81	gold quality
cerebellar cortex	UBERON:0002129	99.73	gold quality
cerebellar hemisphere	UBERON:0002245	99.73	gold quality
cerebellum	UBERON:0002037	99.70	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.68	gold quality
amygdala	UBERON:0001876	99.65	gold quality
nucleus accumbens	UBERON:0001882	99.63	gold quality
cingulate cortex	UBERON:0003027	99.62	gold quality
superior vestibular nucleus	UBERON:0007227	99.61	gold quality
anterior cingulate cortex	UBERON:0009835	99.61	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.61	gold quality
lateral globus pallidus	UBERON:0002476	99.57	gold quality
prefrontal cortex	UBERON:0000451	99.56	gold quality
putamen	UBERON:0001874	99.56	gold quality
cerebellar vermis	UBERON:0004720	99.55	gold quality
hypothalamus	UBERON:0001898	99.52	gold quality
caudate nucleus	UBERON:0001873	99.51	gold quality
postcentral gyrus	UBERON:0002581	99.50	gold quality
ventral tegmental area	UBERON:0002691	99.49	gold quality
parietal lobe	UBERON:0001872	99.48	gold quality
inferior olivary complex	UBERON:0002127	99.47	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.43	gold quality
substantia nigra pars compacta	UBERON:0001965	99.42	gold quality
CA1 field of hippocampus	UBERON:0003881	99.41	gold quality
temporal lobe	UBERON:0001871	99.38	gold quality
Ammon’s horn	UBERON:0001954	99.38	gold quality
medulla oblongata	UBERON:0001896	99.37	gold quality
frontal cortex	UBERON:0001870	99.32	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-ENAD-21	yes	124.34
E-MTAB-7316	yes	41.81
E-GEOD-84465	yes	24.75
E-CURD-46	yes	22.21
E-MTAB-6701	yes	9.68
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EGR1, EGR2, FOXM1, NR4A1, SP1

miRNA regulators (miRDB)

41 targeting ALDOC, 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-6077	99.99	68.04	2299
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239

Literature-anchored findings (GeneRIF, showing 17)

• Diverse ALDOC promoter regions are required to direct specific LacZ expression in the hippocampus and Purkinje cells if transgenic mice. (PMID:15589842)
• This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
• This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19110265)
• This protein has been found differentially expressed in the Wernicke’s Area from patients with schizophrenia. (PMID:19405953)
• Results identified fructose bisphospate aldolase C that showed elevated levels of protein carbonyls in inferior parietal lobule (IPL) from subjects with early stage-Alzheimer’s disease. (PMID:19686046)
• This protein has been found differentially expressed in the anterior cingulate cortex in men patients with schizophrenia. (PMID:20381070)
• residues 85-102 harbor the epitope-containing region recognized by MAb 9F (PMID:24525694)
• ALDOC, Aldolase A (ALDOA) and Aldolase B (ALDOB) activate Wnt signaling. (PMID:24993527)
• NME1 enhanced ALDOC transcription, evidenced by increased expression of ALDOC pre-mRNA and activity of an ALDOC promoter-luciferase module. This is the first study to indicate that NME1 induces transcription through its direct binding to the promoter region of a target gene. (PMID:30396920)
• MUC16 C-terminal binding with ALDOC disrupts the ability of ALDOC to sense glucose and promotes gallbladder carcinoma growth. (PMID:32502493)
• EPB41 suppresses the Wnt/beta-catenin signaling in non-small cell lung cancer by sponging ALDOC. (PMID:33242559)
• The melanoma brain metastatic microenvironment: aldolase C partakes in shaping the malignant phenotype of melanoma cells - a case of inter-tumor heterogeneity. (PMID:33274599)
• BCDIN3D RNA methyltransferase stimulates Aldolase C expression and glycolysis through let-7 microRNA in breast cancer cells. (PMID:33664453)
• Identification of 4-methylation driven genes based prognostic signature in thyroid cancer: an integrative analysis based on the methylmix algorithm. (PMID:34456184)
• Overexpression of aldolase, fructose-bisphosphate C and its association with spheroid formation in colorectal cancer. (PMID:35147255)
• ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis. (PMID:36945054)
• ALDOC regulated the biological function and immune infiltration of gastric cancer cells. (PMID:36997056)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldoca	ENSDARG00000057661
mus_musculus	Aldoc	ENSMUSG00000017390
rattus_norvegicus	Aldoc	ENSRNOG00000011452
drosophila_melanogaster	Ald1	FBGN0000064
drosophila_melanogaster	Ald2	FBGN0039425
caenorhabditis_elegans		WBGENE00011474
caenorhabditis_elegans		WBGENE00017166

Paralogs (2): ALDOB (ENSG00000136872), ALDOA (ENSG00000149925)

Protein

Protein identifiers

Fructose-bisphosphate aldolase C — P09972 (reviewed: P09972)

Alternative names: Brain-type aldolase

All UniProt accessions (8): P09972, A0A024QZ64, A8MVZ9, C9J8F3, J3KSV6, J3QKK1, J3QKP5, K7EKH5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis.

Subunit / interactions. Homotetramer. Interacts with ATP6V1E1. May interact with PLD2.

Pathway. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.

Miscellaneous. In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.

Similarity. Belongs to the class I fructose-bisphosphate aldolase family.

RefSeq proteins (1): NP_005156* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000741	FBA_I	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR029768	Aldolase_I_AS	Conserved_site

Pfam: PF00274

Catalyzed reactions (Rhea), 1 shown:

• beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate (RHEA:14729)

UniProt features (41 total): helix 14, strand 10, modified residue 6, turn 4, active site 2, binding site 2, chain 1, sequence conflict 1, site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1XFB	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09972-F1	96.43	0.94

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 (3): 188 (proton acceptor); 230 (schiff-base intermediate with dihydroxyacetone-p); 364 (necessary for preference for fructose 1,6-bisphosphate over fructose 1-phosphate)

Ligand- & substrate-binding residues (2): 56; 147

Post-translational modifications (6): 111, 132, 5, 36, 39, 45

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-70171	Glycolysis
R-HSA-70263	Gluconeogenesis
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-70326	Glucose metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 314 (showing top): MORF_RAGE, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, SP3_Q3, BOYAULT_LIVER_CANCER_SUBCLASS_G2, MENSE_HYPOXIA_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CERVERA_SDHB_TARGETS_1_DN, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_UP

GO Biological Process (5): fructose metabolic process (GO:0006000), gluconeogenesis (GO:0006094), glycolytic process (GO:0006096), fructose 1,6-bisphosphate metabolic process (GO:0030388), epithelial cell differentiation (GO:0030855)

GO Molecular Function (4): fructose-bisphosphate aldolase activity (GO:0004332), cytoskeletal protein binding (GO:0008092), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (7): extracellular region (GO:0005576), cytosol (GO:0005829), cytoskeleton (GO:0005856), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), ficolin-1-rich granule lumen (GO:1904813)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Glucose metabolism	2
Innate Immune System	1
Immune System	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular organelle lumen	2
hexose metabolic process	1
glucose metabolic process	1
hexose biosynthetic process	1
phosphoglycerate kinase activity	1
phosphoglycerate mutase activity	1
phosphopyruvate hydratase activity	1
pyruvate kinase activity	1
pyruvate metabolic process	1
generation of precursor metabolites and energy	1
aerobic respiration	1
carbohydrate catabolic process	1
pyridine nucleotide catabolic process	1
glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	1
ADP catabolic process	1
ATP metabolic process	1
nicotinamide nucleotide metabolic process	1
organophosphate metabolic process	1
carbohydrate derivative metabolic process	1
cell differentiation	1
epithelium development	1
aldehyde-lyase activity	1
protein binding	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membraneless organelle	1
secretory granule	1
cytoplasmic vesicle lumen	1
extracellular vesicle	1
tertiary granule	1
ficolin-1-rich granule	1

Protein interactions and networks

STRING

2030 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDOC	GAPDH	P00354	862
ALDOC	GPI	P06744	767
ALDOC	TPI1	P00938	693
ALDOC	PFKL	P17858	676
ALDOC	PFKP	Q01813	666
ALDOC	PGK1	P00558	665
ALDOC	PKLR	P11973	653
ALDOC	ENO1	P06733	645
ALDOC	PFKM	P08237	640
ALDOC	ENO2	P09104	636
ALDOC	PGAM4	Q8N0Y7	632
ALDOC	PGAM1	P18669	629
ALDOC	LDHA	P00338	627
ALDOC	ENO3	P13929	626
ALDOC	PKM	P14618	613

IntAct

65 interactions, top by confidence:

A	B	Type	Score
ALDOA	ALDOC	psi-mi:“MI:0914”(association)	0.790
ALDOC	ALDOA	psi-mi:“MI:0915”(physical association)	0.790
ALDOA	ALDOC	psi-mi:“MI:0915”(physical association)	0.790
ALDOC	ALDOA	psi-mi:“MI:0915”(physical association)	0.720
LNX1	ALDOC	psi-mi:“MI:0915”(physical association)	0.720
ALDOA	ALDOC	psi-mi:“MI:0915”(physical association)	0.720
ALDOC	LNX1	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ALDOC	psi-mi:“MI:0915”(physical association)	0.640
ALDOC	ANKS1A	psi-mi:“MI:0915”(physical association)	0.560
ALDOB	ALDOA	psi-mi:“MI:0914”(association)	0.550
ALDOA	ALDOB	psi-mi:“MI:0914”(association)	0.550
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ALDOC	PKM	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ERBB2	ALDOC	psi-mi:“MI:0915”(physical association)	0.370
ALDOC	FMR1	psi-mi:“MI:0915”(physical association)	0.370
S100A9	ALDOC	psi-mi:“MI:0915”(physical association)	0.370
ALDOC	MAP2K3	psi-mi:“MI:0915”(physical association)	0.370
ALDOC	SQLE	psi-mi:“MI:0915”(physical association)	0.370
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (181): ALDOC (Two-hybrid), LNX1 (Two-hybrid), ALDOC (Affinity Capture-RNA), ALDOC (Affinity Capture-RNA), ALDOC (Affinity Capture-RNA), ALDOA (Affinity Capture-MS), ACTN4 (Co-fractionation), ALDOA (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation), ALDOC (Co-fractionation)

ESM2 similar proteins: A5A6I5, B5DGM7, F4KGQ0, O65581, O65735, P00883, P00884, P04075, P05062, P05063, P05064, P05065, P07341, P07764, P08440, P09117, P09972, P14223, P17784, P22197, P29356, P46256, P46257, P46563, P49577, P52210, P53442, P53445, P53446, P53447, P53448, P54216, P79226, Q10A30, Q27744, Q3T0S5, Q4KMC8, Q5N725, Q5NVR5, Q5R1X4

Diamond homologs: A5A6I5, B5DGM7, F4KGQ0, O65581, O65735, P00883, P00884, P04075, P05062, P05063, P05064, P05065, P07341, P07752, P07764, P08440, P09117, P09972, P14223, P16096, P17784, P22197, P29356, P46256, P46257, P46563, P49577, P52210, P53442, P53445, P53446, P53447, P53448, P53449, P54216, P79226, P86979, P91759, Q01516, Q01517

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ALDOC	“up-regulates quantity”	“D-glyceraldehyde 3-phosphate(2-)”	“chemical modification”
ALDOC	“up-regulates quantity”	“glycerone phosphate(2-)”	“chemical modification”
ALDOC	“down-regulates quantity”	“beta-D-fructofuranose 1,6-bisphosphate(4-)”	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1047 predictions. Top by Δscore:

Variant	Effect	Δscore
17:28573738:AG:A	donor_gain	1.0000
17:28573738:AGC:A	donor_gain	1.0000
17:28573739:G:C	donor_gain	1.0000
17:28573754:T:TA	donor_gain	1.0000
17:28573755:C:CA	donor_gain	1.0000
17:28573930:CACTC:C	acceptor_gain	1.0000
17:28573932:CTC:C	acceptor_gain	1.0000
17:28573933:TCC:T	acceptor_loss	1.0000
17:28573934:CC:C	acceptor_loss	1.0000
17:28573934:CCTAG:C	acceptor_gain	1.0000
17:28573936:T:G	acceptor_loss	1.0000
17:28573938:G:C	acceptor_gain	1.0000
17:28573938:G:GC	acceptor_gain	1.0000
17:28573940:G:GC	acceptor_gain	1.0000
17:28574062:AGTAC:A	donor_loss	1.0000
17:28574063:GTA:G	donor_loss	1.0000
17:28574065:A:C	donor_loss	1.0000
17:28574066:CCTGG:C	donor_loss	1.0000
17:28574237:AAGAC:A	acceptor_gain	1.0000
17:28574238:AGAC:A	acceptor_gain	1.0000
17:28574240:AC:A	acceptor_gain	1.0000
17:28574241:CC:C	acceptor_gain	1.0000
17:28574242:C:CC	acceptor_gain	1.0000
17:28574489:CTCA:C	donor_loss	1.0000
17:28574490:TCA:T	donor_loss	1.0000
17:28574491:CA:C	donor_loss	1.0000
17:28574493:CCTT:C	donor_gain	1.0000
17:28574573:CCATT:C	acceptor_gain	1.0000
17:28574574:CATT:C	acceptor_gain	1.0000
17:28574574:CATTC:C	acceptor_gain	1.0000

AlphaMissense

2350 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:28573848:A:G	W296R	1.000
17:28573848:A:T	W296R	1.000
17:28574702:G:C	C178W	1.000
17:28574794:A:G	W148R	1.000
17:28574794:A:T	W148R	1.000
17:28574795:C:A	K147N	1.000
17:28574795:C:G	K147N	1.000
17:28574856:C:T	G127E	1.000
17:28574952:C:G	G127R	1.000
17:28574952:C:T	G127R	1.000
17:28575123:C:A	K108N	1.000
17:28575123:C:G	K108N	1.000
17:28575432:T:A	D34V	1.000
17:28575433:C:G	D34H	1.000
17:28573826:C:T	G303E	0.999
17:28573834:G:C	F300L	0.999
17:28573834:G:T	F300L	0.999
17:28573836:A:G	F300L	0.999
17:28573883:A:G	L284P	0.999
17:28573916:C:T	G273E	0.999
17:28573922:A:G	L271P	0.999
17:28573922:A:T	L271Q	0.999
17:28573925:A:G	F270S	0.999
17:28573934:C:T	G267E	0.999
17:28574072:A:T	V265D	0.999
17:28574090:C:G	R259P	0.999
17:28574176:C:A	K230N	0.999
17:28574176:C:G	K230N	0.999
17:28574554:T:A	E188D	0.999
17:28574554:T:G	E188D	0.999

dbSNP variants (sampled 300 via entrez): RS1001131257 (17:28576786 C>T), RS1001161195 (17:28576305 G>A), RS1001293858 (17:28577162 T>TA), RS1001310555 (17:28577035 C>A,T), RS1001502500 (17:28576485 G>A,T), RS1001818712 (17:28575957 G>A), RS1002798900 (17:28577183 G>A), RS1003138681 (17:28573377 T>C), RS1003520994 (17:28577437 C>T), RS1004520966 (17:28574583 G>A), RS1006390377 (17:28577803 C>A,G), RS1006919508 (17:28576670 G>T), RS1006989354 (17:28572734 C>T), RS1007688701 (17:28577116 C>A), RS1008681882 (17:28578165 G>A,T)

Disease associations

OMIM: gene MIM:103870 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295709 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	5
sodium arsenite	decreases expression, increases expression	4
Oxygen	increases expression	4
Cisplatin	increases expression, increases reaction, decreases expression	3
Tretinoin	decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Cyclosporine	decreases expression	3
cobaltous chloride	increases expression, decreases reaction	2
nickel sulfate	increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
bisphenol S	affects cotreatment, increases expression	2
(+)-JQ1 compound	increases expression	2
Arsenic Trioxide	affects binding, decreases reaction, decreases expression	2
Doxorubicin	affects expression, decreases expression	2
Niclosamide	increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tunicamycin	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
afuresertib	increases expression	1
bisphenol F	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4119012	Binding	Binding affinity to ALDOC in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

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