HACD2

Summary

HACD2 (3-hydroxyacyl-CoA dehydratase 2, HGNC:9640) is a protein-coding gene on chromosome 3q21.1, encoding Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 (Q6Y1H2). Catalyzes the third of the very long-chain fatty acids (VLCFA) elongation four-step cycle (condensation, reduction, dehydration, and reduction).

The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane.

Source: NCBI Gene 201562 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 30 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_198402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9640
Approved symbol	HACD2
Name	3-hydroxyacyl-CoA dehydratase 2
Location	3q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206527
Ensembl biotype	protein_coding
OMIM	615939
Entrez	201562

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000383657, ENST00000469317, ENST00000471236, ENST00000480081, ENST00000493515, ENST00000865299, ENST00000865300

RefSeq mRNA: 5 — MANE Select: NM_198402 NM_001329783, NM_001329784, NM_001329786, NM_001329787, NM_198402

CCDS: CCDS46895

Canonical transcript exons

ENST00000383657 — 7 exons

Exon	Start	End
ENSE00001498004	123491554	123494970
ENSE00001498006	123502560	123502681
ENSE00001498007	123528386	123528474
ENSE00001498010	123584873	123585053
ENSE00003537899	123500515	123500693
ENSE00003540179	123582212	123582329
ENSE00003616857	123567762	123567780

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.0954 / max 475.9570, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44168	27.6663	1798
44169	5.5552	1596
44170	1.7316	1007
44171	0.1422	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	96.86	gold quality
gingiva	UBERON:0001828	96.74	gold quality
lateral globus pallidus	UBERON:0002476	96.66	gold quality
mammalian vulva	UBERON:0000997	96.55	gold quality
jejunal mucosa	UBERON:0000399	96.25	gold quality
upper leg skin	UBERON:0004262	95.86	gold quality
skin of hip	UBERON:0001554	95.29	gold quality
squamous epithelium	UBERON:0006914	95.28	gold quality
endothelial cell	CL:0000115	95.13	gold quality
colonic mucosa	UBERON:0000317	94.90	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.86	gold quality
esophagus squamous epithelium	UBERON:0006920	94.83	gold quality
penis	UBERON:0000989	94.75	gold quality
cervix squamous epithelium	UBERON:0006922	94.75	gold quality
synovial joint	UBERON:0002217	94.67	gold quality
tongue squamous epithelium	UBERON:0006919	94.50	gold quality
oviduct epithelium	UBERON:0004804	94.42	gold quality
middle frontal gyrus	UBERON:0002702	94.26	gold quality
palpebral conjunctiva	UBERON:0001812	94.20	gold quality
oral cavity	UBERON:0000167	94.02	gold quality
renal medulla	UBERON:0000362	93.94	gold quality
duodenum	UBERON:0002114	93.76	gold quality
cervix epithelium	UBERON:0004801	93.50	gold quality
mammary duct	UBERON:0001765	93.49	gold quality
subthalamic nucleus	UBERON:0001906	93.49	gold quality
epithelium of esophagus	UBERON:0001976	93.28	gold quality
epithelium of mammary gland	UBERON:0003244	93.21	gold quality
corpus callosum	UBERON:0002336	93.09	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.06	gold quality
inferior olivary complex	UBERON:0002127	93.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.08
E-HCAD-10	yes	15.32
E-MTAB-7249	yes	10.87

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

61 targeting HACD2, 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-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-609	99.82	64.26	505
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6757-3P	99.63	66.88	1089

Literature-anchored findings (GeneRIF, showing 3)

• Data describe a novel human member of the protein tyrosine phosphatase-like B (PTPLB) family, an integral protein of the endoplasmic reticulum membrane, as a BAP31-interacting protein. (PMID:15024066)
• Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle. (PMID:28784662)
• The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation. (PMID:38422897)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hacd2	ENSDARG00000014806
mus_musculus	Hacd2	ENSMUSG00000035376
rattus_norvegicus	Hacd2	ENSRNOG00000038761
drosophila_melanogaster	Hacd1	FBGN0032394
caenorhabditis_elegans		WBGENE00020517

Paralogs (3): HACD3 (ENSG00000074696), HACD1 (ENSG00000165996), HACD4 (ENSG00000188921)

Protein

Protein identifiers

Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 — Q6Y1H2 (reviewed: Q6Y1H2)

Alternative names: 3-hydroxyacyl-CoA dehydratase 2, Protein-tyrosine phosphatase-like member B

All UniProt accessions (3): Q6Y1H2, C9JWG1, H7C4K8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the third of the very long-chain fatty acids (VLCFA) elongation four-step cycle (condensation, reduction, dehydration, and reduction). This endoplasmic reticulum-elongation process is characterized by the addition of two carbons to the lipid chain through each cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of elongation. Therefore, it participates in the production of various VLCFAs involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Subunit / interactions. May interact with enzymes of the ELO family (including ELOVL1); with those enzymes that mediate condensation, the first of the four steps of the reaction cycle responsible for fatty acids elongation, may be part of a larger fatty acids elongase complex. Interacts with BCAP31. Interacts (via the third lumenal loop) with TECR.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in testis, spleen, prostate, colon and heart, followed by moderate expression in thymus, ovary, small intestine, peripheral blood leukocytes, liver, skeletal muscle and pancreas. Weakly detected in kidney, placenta, brain and lung.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Miscellaneous. Turns over rapidly through degradation by the proteasome system.

Similarity. Belongs to the very long-chain fatty acids dehydratase HACD family.

RefSeq proteins (5): NP_001316712, NP_001316713, NP_001316715, NP_001316716, NP_940684* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007482	Tyr_Pase-like_PTPLA	Family

Pfam: PF04387

Catalyzed reactions (Rhea), 7 shown:

• (3R)-hydroxyoctadecanoyl-CoA = (2E)-octadecenoyl-CoA + H2O (RHEA:39155)
• (3R)-hydroxyhexadecanoyl-CoA = (2E)-hexadecenoyl-CoA + H2O (RHEA:39159)
• (3R)-hydroxyeicosanoyl-CoA = (2E)-eicosenoyl-CoA + H2O (RHEA:39175)
• (3R)-hydroxydocosanoyl-CoA = (2E)-docosenoyl-CoA + H2O (RHEA:39187)
• (3R)-hydroxytetracosanoyl-CoA = (2E)-tetracosenoyl-CoA + H2O (RHEA:39199)
• (3R)-hydroxyhexacosanoyl-CoA = (2E)-hexacosenoyl-CoA + H2O (RHEA:39211)
• a very-long-chain (3R)-3-hydroxyacyl-CoA = a very-long-chain (2E)-enoyl-CoA + H2O (RHEA:45812)

UniProt features (23 total): topological domain 7, transmembrane region 6, region of interest 2, active site 2, initiator methionine 1, chain 1, compositionally biased region 1, modified residue 1, glycosylation site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6Y1H2-F1	79.37	0.38

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): 176; 183

Post-translational modifications (1): 2

Glycosylation sites (1): 209

Mutagenesis-validated functional residues (1):

Position	Phenotype
101	does not restore any protein tyrosine phosphatase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs

MSigDB gene sets: 196 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, LOPEZ_MESOTHELIOMA_SURVIVAL_DN, HONMA_DOCETAXEL_RESISTANCE, XU_GH1_AUTOCRINE_TARGETS_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS

GO Biological Process (7): sphingolipid biosynthetic process (GO:0030148), fatty acid elongation (GO:0030497), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), very long-chain fatty acid biosynthetic process (GO:0042761), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid biosynthetic process (GO:0006633)

GO Molecular Function (5): 3-hydroxyacyl-CoA dehydratase activity (GO:0018812), enzyme binding (GO:0019899), very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity (GO:0102158), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Fatty acyl-CoA biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid biosynthetic process	2
fatty acid biosynthetic process	2
sphingolipid metabolic process	1
long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA biosynthetic process	1
very long-chain fatty acid metabolic process	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid metabolic process	1
monocarboxylic acid biosynthetic process	1
enoyl-CoA hydratase activity	1
protein binding	1
(2E)-enoyl-CoA hydratase activity	1
binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HACD2	HSD17B12	Q53GQ0	650
HACD2	TECR	Q9NZ01	588
HACD2	ELOVL6	Q9H5J4	525
HACD2	COASY	Q13057	460
HACD2	ELOVL4	Q9GZR5	430
HACD2	ELOVL5	Q9NYP7	425
HACD2	ELOVL1	Q9BW60	425
HACD2	ACACA	Q13085	396
HACD2	ACAA1	P09110	392
HACD2	MCAT	Q8IVS2	386
HACD2	ELOVL7	A1L3X0	371
HACD2	ELOVL3	Q9HB03	367
HACD2	MECR	Q9BV79	366
HACD2	ETNPPL	Q8TBG4	356
HACD2	ACSL4	O60488	355

IntAct

142 interactions, top by confidence:

A	B	Type	Score
TECR	HACD2	psi-mi:“MI:0915”(physical association)	0.850
HACD2	TECR	psi-mi:“MI:0915”(physical association)	0.850
TECR	HACD2	psi-mi:“MI:0914”(association)	0.850
IFT70B	IFT56	psi-mi:“MI:0914”(association)	0.790
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
HACD2	IL10RA	psi-mi:“MI:0915”(physical association)	0.560
SMIM1	HACD2	psi-mi:“MI:0915”(physical association)	0.560
HACD2	CREB3L1	psi-mi:“MI:0915”(physical association)	0.560
IL10RA	HACD2	psi-mi:“MI:0915”(physical association)	0.560
HACD2	TMX2	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	HACD2	psi-mi:“MI:0915”(physical association)	0.560
HACD2	BCAP31	psi-mi:“MI:0915”(physical association)	0.540

BioGRID (130): PTPLB (Two-hybrid), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Proximity Label-MS), PTPLB (Proximity Label-MS), PTPLB (Proximity Label-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS), PTPLB (Affinity Capture-MS)

ESM2 similar proteins: A0SYQ0, A1L2F6, A2RST1, A4DA06, A6XA80, A8X8R3, B6JWP7, O14684, O14880, O74507, O94511, P08011, P0DN89, P10620, P25338, P70245, P73795, P79382, Q16873, Q17428, Q28GF8, Q296J9, Q2KIP8, Q2KJG4, Q2NKS0, Q3T100, Q4W1W1, Q54GA9, Q5R9A6, Q5RBK3, Q60490, Q60860, Q64L89, Q6GPW4, Q6PWL6, Q6Y1H2, Q8HZJ2, Q91VS7, Q925U2, Q95L14

Diamond homologs: A2AKM2, A7YY55, Q0P5C7, Q11118, Q23280, Q2KIP8, Q5NVQ2, Q5RBK3, Q5VWC8, Q5ZM57, Q6GNB5, Q6Y1H2, Q7SY06, Q8K2C9, Q8L7U4, Q9D3B1, Q9FR62, Q9P035, B0YJ81, O14346, O17040, P40857, Q4W1W1, Q5ZEJ0, Q7XSZ4, Q8VZB2, Q9N1R5, Q9QY80, Q9D9A7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
HACD2	“up-regulates activity”	FASN	“chemical activation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
R-HSA-425366	6	13.8×	1e-03
SLC-mediated transmembrane transport	8	6.0×	6e-03
Transport of small molecules	13	4.1×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
intracellular zinc ion homeostasis	5	23.8×	1e-03
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	6	13.0×	2e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	7	9.1×	2e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	8	9.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	22
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2427159	NC_000003.11:g.(?123003455)(123512688_?)del	Pathogenic

SpliceAI

1805 predictions. Top by Δscore:

Variant	Effect	Δscore
3:123494971:C:CC	acceptor_gain	1.0000
3:123500511:TTACT:T	donor_loss	1.0000
3:123500512:TACTT:T	donor_loss	1.0000
3:123500513:A:AC	donor_gain	1.0000
3:123500514:C:CA	donor_loss	1.0000
3:123500514:C:CC	donor_gain	1.0000
3:123500690:GTACC:G	acceptor_loss	1.0000
3:123500694:C:CC	acceptor_gain	1.0000
3:123500694:CTA:C	acceptor_loss	1.0000
3:123500695:T:A	acceptor_loss	1.0000
3:123502554:TTTTA:T	donor_loss	1.0000
3:123502555:TTTA:T	donor_loss	1.0000
3:123502556:TTACC:T	donor_loss	1.0000
3:123502557:TAC:T	donor_loss	1.0000
3:123502558:ACCT:A	donor_loss	1.0000
3:123502559:C:CG	donor_loss	1.0000
3:123579699:A:AC	donor_gain	1.0000
3:123579700:C:CC	donor_gain	1.0000
3:123584872:CCCGG:C	donor_gain	1.0000
3:123494967:AAAA:A	acceptor_gain	0.9900
3:123494968:AAA:A	acceptor_gain	0.9900
3:123500509:ACTT:A	donor_loss	0.9900
3:123500514:CTT:C	donor_gain	0.9900
3:123500514:CTTGG:C	donor_gain	0.9900
3:123500689:TGTAC:T	acceptor_gain	0.9900
3:123500691:TAC:T	acceptor_gain	0.9900
3:123500700:C:CT	acceptor_gain	0.9900
3:123502682:C:CA	acceptor_loss	0.9900
3:123502682:C:CC	acceptor_gain	0.9900
3:123502683:T:C	acceptor_loss	0.9900

AlphaMissense

1634 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:123500662:C:G	G179R	1.000
3:123500662:C:T	G179R	1.000
3:123500681:G:C	F172L	1.000
3:123500681:G:T	F172L	1.000
3:123500683:A:G	F172L	1.000
3:123502560:C:A	R168M	1.000
3:123502560:C:G	R168T	1.000
3:123502629:T:A	E145V	1.000
3:123502642:A:G	W141R	1.000
3:123502642:A:T	W141R	1.000
3:123528425:T:A	R114S	1.000
3:123528425:T:G	R114S	1.000
3:123528426:C:A	R114I	1.000
3:123528426:C:G	R114T	1.000
3:123582213:T:A	E91V	1.000
3:123582328:A:G	W53R	1.000
3:123582328:A:T	W53R	1.000
3:123584874:C:G	G52R	1.000
3:123584874:C:T	G52R	1.000
3:123584890:A:C	N46K	1.000
3:123584890:A:T	N46K	1.000
3:123494933:T:A	R240S	0.999
3:123494933:T:G	R240S	0.999
3:123494934:C:A	R240I	0.999
3:123494934:C:G	R240T	0.999
3:123494945:C:A	M236I	0.999
3:123494945:C:G	M236I	0.999
3:123494945:C:T	M236I	0.999
3:123494956:A:C	Y233D	0.999
3:123500625:A:G	L191P	0.999

dbSNP variants (sampled 300 via entrez): RS1000005395 (3:123585141 C>T), RS1000052780 (3:123537613 T>C,G), RS1000067830 (3:123522522 T>A,C), RS1000074844 (3:123569974 G>A), RS1000103216 (3:123537365 G>C), RS1000117514 (3:123512490 G>GA), RS1000123643 (3:123493969 T>A,C), RS1000262071 (3:123573276 T>C), RS1000285218 (3:123509703 G>A,T), RS1000290545 (3:123531169 G>A), RS1000313169 (3:123572967 T>C), RS1000337218 (3:123509814 A>G), RS1000359705 (3:123491245 G>A), RS1000382549 (3:123543851 G>A), RS1000478151 (3:123524995 C>T)

Disease associations

OMIM: gene MIM:615939 | disease phenotypes: MIM:613780

GenCC curated gene-disease

Mondo (1): aortic aneurysm, familial thoracic 7 (MONDO:0013418)

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003140_4	Chronic kidney disease	3.000000e-06
GCST004899_9	Gestational age at birth (maternal effect)	4.000000e-08
GCST010796_5041	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_5042	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5043	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5044	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST011126_5	Caffeine consumption from coffee or tea	1.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement
EFO:0004327	electrocardiography
EFO:0006781	coffee consumption measurement
EFO:0010091	tea consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067451 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases expression, increases abundance, increases expression	3
bisphenol A	affects expression, decreases methylation	2
sodium arsenite	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
methylselenic acid	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
clothianidin	increases expression	1
torcetrapib	increases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
bisphenol AF	increases expression	1
Vorinostat	decreases expression	1
Arsenic	affects methylation	1
Calcitriol	increases expression	1
Cisplatin	decreases expression	1
Dexamethasone	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Estradiol	increases expression	1
Ethinyl Estradiol	affects expression	1
Formaldehyde	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
CHEMBL5652908	Binding	Binding affinity to human HACD2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D6C5	HyCyte MDA-MB-231 KO-hHACD2	Cancer cell line	Female

Clinical trials (associated diseases)

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