ECI2

Summary

ECI2 (enoyl-CoA delta isomerase 2, HGNC:14601) is a protein-coding gene on chromosome 6p25.2, encoding Enoyl-CoA delta isomerase 2 (O75521). Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species.

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 10455 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 35 total — 1 pathogenic
• MANE Select transcript: NM_206836

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14601
Approved symbol	ECI2
Name	enoyl-CoA delta isomerase 2
Location	6p25.2
Locus type	gene with protein product
Status	Approved
Aliases	ACBD2, DRS1, HCA88
Ensembl gene	ENSG00000198721
Ensembl biotype	protein_coding
OMIM	608024
Entrez	10455

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000361538, ENST00000380118, ENST00000380120, ENST00000380125, ENST00000464057, ENST00000464583, ENST00000465828, ENST00000478266, ENST00000489086, ENST00000495548, ENST00000496241, ENST00000866740, ENST00000866741, ENST00000866743, ENST00000866744, ENST00000866745, ENST00000866747, ENST00000866749

RefSeq mRNA: 3 — MANE Select: NM_206836 NM_001166010, NM_006117, NM_206836

CCDS: CCDS43420, CCDS4490

Canonical transcript exons

ENST00000380118 — 10 exons

Exon	Start	End
ENSE00003499931	4115706	4116029
ENSE00003501540	4130372	4130560
ENSE00003521060	4126135	4126237
ENSE00003585855	4135511	4135575
ENSE00003594800	4119186	4119275
ENSE00003621019	4130767	4130865
ENSE00003630170	4125250	4125370
ENSE00003639682	4117308	4117451
ENSE00003679284	4127762	4127831
ENSE00003694577	4133549	4133711

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 99.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.2595 / max 1130.1496, expressed in 1797 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71509	35.6655	1794
71510	3.3085	1468
71511	0.2855	102

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.07	gold quality
right adrenal gland	UBERON:0001233	98.20	gold quality
right adrenal gland cortex	UBERON:0035827	98.19	gold quality
heart right ventricle	UBERON:0002080	98.13	gold quality
triceps brachii	UBERON:0001509	98.06	gold quality
left adrenal gland	UBERON:0001234	98.02	gold quality
biceps brachii	UBERON:0001507	98.01	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.00	gold quality
gluteal muscle	UBERON:0002000	97.95	gold quality
heart left ventricle	UBERON:0002084	97.81	gold quality
left adrenal gland cortex	UBERON:0035825	97.81	gold quality
diaphragm	UBERON:0001103	97.80	gold quality
body of pancreas	UBERON:0001150	97.78	gold quality
cardiac ventricle	UBERON:0002082	97.78	gold quality
right lobe of liver	UBERON:0001114	97.76	gold quality
adrenal gland	UBERON:0002369	97.66	gold quality
adult mammalian kidney	UBERON:0000082	97.65	gold quality
adrenal cortex	UBERON:0001235	97.64	gold quality
gastrocnemius	UBERON:0001388	97.62	gold quality
liver	UBERON:0002107	97.57	gold quality
muscle of leg	UBERON:0001383	97.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.56	gold quality
muscle organ	UBERON:0001630	97.51	gold quality
apex of heart	UBERON:0002098	97.44	gold quality
vastus lateralis	UBERON:0001379	97.40	gold quality
left ventricle myocardium	UBERON:0006566	97.40	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.39	gold quality
quadriceps femoris	UBERON:0001377	97.29	gold quality
skeletal muscle tissue	UBERON:0001134	97.28	gold quality
body of stomach	UBERON:0001161	97.06	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	116.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting ECI2, 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-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6073	99.60	70.36	793
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-100-3P	99.20	67.33	672
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980
HSA-MIR-4289	98.26	66.90	810
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-4712-5P	97.24	67.79	775
HSA-MIR-770-5P	97.24	68.10	758
HSA-MIR-514A-5P	96.94	65.49	801

Literature-anchored findings (GeneRIF, showing 5)

• Disruption of mitochondrial beta -oxidation of unsaturated fatty acids in the 3,2-trans-enoyl-CoA isomerase-deficient mouse (PMID:11916962)
• DRS-1 may serve as an autoantigen eliciting immune attack against hematopoietic stem cells in a subset of acquired aplastic anemia patients characterized by increased paroxysmal nocturnal hemoglobinuria-type cells (PMID:15217832)
• Ectopic expression of the ACBD2/ECI2 isoform A in MA-10 cells led to increased basal and hormone-stimulated steroid formation, indicating that ACBD2/ECI2-mediated peroxisomes-mitochondria interactions favor in the exchange of metabolites and/or macromolecules between these 2 organelles in support of steroid biosynthesis. Considering the widespread occurrence of the ACBD2/ECI2 protein, we propose that this protein might se (PMID:27167610)
• Enoyl-CoA delta isomerase 2 (ECI2) is a novel AR-target that promotes prostate cancer cell survival (PMID:28415728)
• The lipid-metabolism enzyme ECI2 reduces neutrophil extracellular traps formation for colorectal cancer suppression. (PMID:39169021)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	eci2	ENSDARG00000102412
mus_musculus	Eci3	ENSMUSG00000021416
mus_musculus	Eci2	ENSMUSG00000021417
rattus_norvegicus	Eci2	ENSRNOG00000029549
rattus_norvegicus	Eci2	ENSRNOG00000066714
drosophila_melanogaster	Acbp2	FBGN0010387
caenorhabditis_elegans	acbp-1	WBGENE00016655

Paralogs (4): ACBD5 (ENSG00000107897), DBI (ENSG00000155368), ACBD7 (ENSG00000176244), ACBD4 (ENSG00000181513)

Protein

Protein identifiers

Enoyl-CoA delta isomerase 2 — O75521 (reviewed: O75521)

Alternative names: DRS-1, Delta(3),delta(2)-enoyl-CoA isomerase, Diazepam-binding inhibitor-related protein 1, Dodecenoyl-CoA isomerase, Hepatocellular carcinoma-associated antigen 88, Peroxisomal 3,2-trans-enoyl-CoA isomerase, Renal carcinoma antigen NY-REN-1

All UniProt accessions (6): O75521, A0A0C4DGA2, C9JB63, F1LLU7, F8W6J1, F8WAW4

UniProt curated annotations — full annotation on UniProt →

Function. Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates.

Subcellular location. Mitochondrion Peroxisome matrix.

Tissue specificity. Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone marrow cells.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Similarity. In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75521-1	1	yes
O75521-2	2, PECI

RefSeq proteins (3): NP_001159482, NP_006108, NP_996667* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000582	Acyl-CoA-binding_protein	Domain
IPR001753	Enoyl-CoA_hydra/iso	Domain
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR014748	Enoyl-CoA_hydra_C	Homologous_superfamily
IPR022408	Acyl-CoA-binding_prot_CS	Conserved_site
IPR029045	ClpP/crotonase-like_dom_sf	Homologous_superfamily
IPR035984	Acyl-CoA-binding_sf	Homologous_superfamily
IPR051053	ECH/Chromodomain_protein	Family

Pfam: PF00378, PF00887

Enzyme classification (BRENDA):

• EC 5.3.3.8 — DELTA3-DELTA2-enoyl-CoA isomerase (BRENDA: 14 organisms, 65 substrates, 8 inhibitors, 70 Km, 69 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
3-TRANS-HEXENOYL-COA	0.03–1.6	15
TRANS-3-HEXENOYL-COA	0.03–0.12	7
3-CIS-HEXENOYL-COA	0.031–1.2	6
3-CIS-TETRADECENOYL-COA	0.006–0.089	5
2-TRANS,5-CIS-OCTADIENOYL-COA	0.0044–0.17	3
2-TRANS,5-CIS-TETRADECADIENOYL-COA	0.0096–0.029	3
3-CIS-OCTENOYL-COA	0.032–0.15	3
3-DECYNOYL-N-ACETYLCYSTEAMINE	0.24–0.81	3
3-DODECYNOYL-N-ACETYLCYSTEAMINE	0.28–0.97	3
3-HEXYNOYL-N-ACETYLCYSTEAMINE	2.1–7.2	3
3-OCTYNOYL-N-ACETYLCYSTEAMINE	0.68–1.6	3
3-TRANS-OCTENOYL-COA	0.028–0.19	3
3-TRANS-TETRADECENOYL-COA	0.029–0.048	3
TRANS-2-HEXENOYL-COA	0.0006–0.31	3
3-HEXENOYL-COA	0.04–0.15	2

Catalyzed reactions (Rhea), 7 shown:

• (2E)-tetradecenoyl-CoA = (3Z)-tetradecenoyl-CoA (RHEA:29847)
• a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA (RHEA:45228)
• a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA (RHEA:45900)
• (3Z)-octenoyl-CoA = (2E)-octenoyl-CoA (RHEA:46044)
• (3E)-nonenoyl-CoA = (2E)-nonenoyl-CoA (RHEA:46068)
• (3E)-tetradecenoyl-CoA = (2E)-tetradecenoyl-CoA (RHEA:47476)
• (3E)-octenoyl-CoA = (2E)-octenoyl-CoA (RHEA:49852)

UniProt features (59 total): helix 20, modified residue 14, strand 8, binding site 4, sequence variant 2, sequence conflict 2, turn 2, transit peptide 1, chain 1, domain 1, splice variant 1, region of interest 1, short sequence motif 1, site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
4U19	X-RAY DIFFRACTION	1.88
2F6Q	X-RAY DIFFRACTION	1.95
4U18	X-RAY DIFFRACTION	2.64
4U1A	X-RAY DIFFRACTION	2.85
2CQU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75521-F1	87.40	0.73

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): 280 (important for catalytic activity)

Ligand- & substrate-binding residues (4): 66–70; 92; 111; 198–202

Post-translational modifications (14): 51, 51, 55, 62, 62, 70, 81, 90, 92, 92, 101, 119, 161, 289

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390247	Beta-oxidation of very long chain fatty acids
R-HSA-9033241	Peroxisomal protein import

MSigDB gene sets: 194 (showing top): GOBP_LIPID_MODIFICATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_FATTY_ACID_CATABOLIC_PROCESS, FARMER_BREAST_CANCER_CLUSTER_7, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, chr6p25, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, XU_RESPONSE_TO_TRETINOIN_DN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS

GO Biological Process (2): fatty acid beta-oxidation (GO:0006635), fatty acid catabolic process (GO:0009062)

GO Molecular Function (5): fatty-acyl-CoA binding (GO:0000062), delta(3)-delta(2)-enoyl-CoA isomerase activity (GO:0004165), protein binding (GO:0005515), lipid binding (GO:0008289), isomerase activity (GO:0016853)

GO Cellular Component (5): mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Peroxisomal lipid metabolism	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
cellular anatomical structure	2
fatty acid catabolic process	1
fatty acid ligase activity	1
fatty acid oxidation	1
fatty acid metabolic process	1
lipid catabolic process	1
monocarboxylic acid catabolic process	1
acyl-CoA binding	1
fatty acid derivative binding	1
intramolecular oxidoreductase activity, transposing C=C bonds	1
catalytic activity	1
intracellular membrane-bounded organelle	1
microbody	1
peroxisome	1
microbody lumen	1

Protein interactions and networks

STRING

3275 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ECI2	ECI1	P42126	985
ECI2	ACOX2	Q99424	648
ECI2	ACOX1	Q15067	646
ECI2	EHHADH	Q08426	611
ECI2	FAR1	Q8WVX9	609
ECI2	ACADS	P16219	593
ECI2	ACAD11	Q709F0	584
ECI2	HADHB	P55084	573
ECI2	ACAA1	P09110	561
ECI2	ACAA2	P42765	549
ECI2	ACAD9	Q9H845	548
ECI2	HADHA	P40939	541
ECI2	ALDH3A2	P51648	540
ECI2	DECR2	Q9NUI1	537
ECI2	PEX11A	O75192	531
ECI2	SCP2	P22307	531

IntAct

83 interactions, top by confidence:

A	B	Type	Score
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ECI2	ECH1	psi-mi:“MI:0914”(association)	0.620
ECH1	ECI2	psi-mi:“MI:0914”(association)	0.620
ECI2	ECH1	psi-mi:“MI:0915”(physical association)	0.620
TNPO3	ECI2	psi-mi:“MI:0915”(physical association)	0.560
ECI2	TNPO3	psi-mi:“MI:0915”(physical association)	0.560
MAPK6	ECI2	psi-mi:“MI:0914”(association)	0.530
PDGFD	DCTN6	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
MET	NDUFA4	psi-mi:“MI:2364”(proximity)	0.420
ECI2	ATP5F1B	psi-mi:“MI:0915”(physical association)	0.400
SLC67A1	ECI2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (153): ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECH1 (Co-fractionation), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), ECH1 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), MCCC1 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), IDE (Affinity Capture-MS)

ESM2 similar proteins: A0PJR5, A2C0Z2, A4SGK0, A5VSZ7, A6UCL8, A6WXC3, A7HTW0, A9BEF8, A9HL57, A9JS71, A9M9B7, B0CJD4, B2S8T2, B3PPF4, B5ZSI8, B9JBU0, C0RFS3, C3MHX3, F1R6N4, O75521, O87873, P52045, Q11DU2, Q1MB43, Q21LR0, Q28C91, Q2K3L0, Q2T4M6, Q2VZG7, Q3MIE0, Q46GP3, Q50130, Q57AM5, Q5HZQ8, Q5M8W9, Q5NPY2, Q5XIC0, Q6NL24, Q6NY77, Q78JN3

Diamond homologs: A0FKI7, A2VDR2, A5WV69, O01805, O04066, O09035, O22643, O75521, P07106, P07107, P07108, P11030, P12026, P31786, P31787, P42281, P45882, P45883, P56702, P57752, P61867, P61868, P82934, Q20507, Q2KHT9, Q39315, Q39779, Q3SZF0, Q4V869, Q4V8X4, Q502L1, Q54GC8, Q5FXM5, Q5R7P6, Q5R7V3, Q5RJK8, Q5T8D3, Q5VRM0, Q5XG73, Q5XIC0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 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
Mitochondrial protein degradation	8	16.9×	5e-06
Peroxisomal protein import	5	16.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	24
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	Pathogenic

SpliceAI

2132 predictions. Top by Δscore:

Variant	Effect	Δscore
6:4117305:AACA:A	donor_loss	1.0000
6:4117306:A:C	donor_gain	1.0000
6:4117306:ACAT:A	donor_loss	1.0000
6:4117307:C:CA	donor_gain	1.0000
6:4117307:CA:C	donor_gain	1.0000
6:4117449:TGC:T	acceptor_gain	1.0000
6:4117450:GC:G	acceptor_gain	1.0000
6:4117451:CC:C	acceptor_gain	1.0000
6:4117452:C:CC	acceptor_gain	1.0000
6:4117457:A:AC	acceptor_gain	1.0000
6:4127756:TCTTA:T	donor_loss	1.0000
6:4127757:CTTAC:C	donor_loss	1.0000
6:4127758:TTA:T	donor_loss	1.0000
6:4127759:TA:T	donor_loss	1.0000
6:4127760:ACCTG:A	donor_loss	1.0000
6:4127761:C:CT	donor_loss	1.0000
6:4127834:G:C	acceptor_gain	1.0000
6:4127839:A:AC	acceptor_gain	1.0000
6:4127839:A:C	acceptor_gain	1.0000
6:4130762:CTCA:C	donor_loss	1.0000
6:4130763:TCACC:T	donor_loss	1.0000
6:4130764:CAC:C	donor_loss	1.0000
6:4130765:A:AC	donor_gain	1.0000
6:4130765:AC:A	donor_gain	1.0000
6:4130765:ACCTT:A	donor_loss	1.0000
6:4130766:C:A	donor_loss	1.0000
6:4130766:C:CA	donor_gain	1.0000
6:4130766:CC:C	donor_gain	1.0000
6:4130861:GTGGC:G	acceptor_gain	1.0000
6:4130862:TGGC:T	acceptor_gain	1.0000

AlphaMissense

2594 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:4117387:A:T	V317D	0.990
6:4125308:G:T	A246D	0.990
6:4125320:A:T	V242D	0.988
6:4117406:C:G	A311P	0.987
6:4126218:A:C	S197R	0.987
6:4126218:A:T	S197R	0.987
6:4126220:T:G	S197R	0.987
6:4125326:G:T	A240E	0.986
6:4119268:A:G	F268S	0.984
6:4125260:G:T	A262E	0.984
6:4125261:C:G	A262P	0.984
6:4130865:C:G	A72P	0.983
6:4125309:C:G	A246P	0.982
6:4119255:A:C	F272L	0.981
6:4119255:A:T	F272L	0.981
6:4119257:A:G	F272L	0.981
6:4125314:C:T	G244D	0.981
6:4127770:A:T	V188D	0.981
6:4130403:C:G	R157P	0.981
6:4130387:A:C	N162K	0.980
6:4130387:A:T	N162K	0.980
6:4117405:G:T	A311E	0.977
6:4116012:T:A	K349N	0.976
6:4116012:T:G	K349N	0.976
6:4133552:C:A	K70N	0.976
6:4133552:C:G	K70N	0.976
6:4119237:A:C	S278R	0.975
6:4119237:A:T	S278R	0.975
6:4119239:T:G	S278R	0.975
6:4119275:C:G	A266P	0.975

dbSNP variants (sampled 300 via entrez): RS1000227320 (6:4133791 T>C,G), RS1000779375 (6:4117515 T>C), RS1000848462 (6:4122167 T>C), RS1000932176 (6:4133176 G>T), RS1001085844 (6:4134580 A>G,T), RS1001136802 (6:4134850 G>A,C), RS1001362690 (6:4130577 A>G), RS1001694757 (6:4131057 T>C), RS1001752618 (6:4118691 T>C), RS1001848870 (6:4123437 T>C), RS1001888046 (6:4119384 G>A,C,T), RS1002078983 (6:4129730 C>T), RS1002080453 (6:4136163 C>A,G,T), RS1002134288 (6:4136338 G>A), RS1002140614 (6:4131558 A>G)

Disease associations

OMIM: gene MIM:608024 | 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
GCST001762_500	Obesity-related traits	1.000000e-06
GCST003542_140	Night sleep phenotypes	9.000000e-06
GCST006585_2656	Blood protein levels	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
bisphenol A	increases expression, affects expression, affects cotreatment, increases methylation, decreases expression	5
trichostatin A	affects cotreatment, increases expression	3
Acetaminophen	decreases expression	3
entinostat	affects cotreatment, increases expression	2
Tretinoin	decreases expression	2
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	decreases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	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
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Cadmium	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2W8	Abcam HEK293T ECI2 KO	Transformed cell line	Female
CVCL_SL40	HAP1 ECI2 (-) 1	Cancer cell line	Male
CVCL_XN36	HAP1 ECI2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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