ECT2L

Summary

ECT2L (epithelial cell transforming 2 like, HGNC:21118) is a protein-coding gene on chromosome 6q24.1, encoding Epithelial cell-transforming sequence 2 oncogene-like (Q008S8). May act as a guanine nucleotide exchange factor (GEF).

Predicted to enable guanyl-nucleotide exchange factor activity.

Source: NCBI Gene 345930 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 165 total
• GTEx eGene: eQTL in 26 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.13 (unconstrained)
• MANE Select transcript: NM_001077706
• Notable: 165 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21118
Approved symbol	ECT2L
Name	epithelial cell transforming 2 like
Location	6q24.1
Locus type	gene with protein product
Status	Approved
Aliases	ARHGEF32, FBXO49, LFDH
Ensembl gene	ENSG00000203734
Ensembl biotype	protein_coding
Entrez	345930

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000541398

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 3: 1, TSL 4: 1, TSL 5: 2

ENST00000541398, ENST00000367682, ENST00000401414, ENST00000495970, ENST00001139043

RefSeq mRNA: 2 — MANE Select: NM_001077706 NM_001077706, NM_001195037

CCDS: CCDS43508

Canonical transcript exons

ENST00000541398 — 22 exons

Exon	Start	End
ENSE00001445363	138849269	138849434
ENSE00001445364	138842979	138843231
ENSE00001445368	138813172	138813340
ENSE00001531504	138902500	138904070
ENSE00001531506	138900948	138901120
ENSE00001531511	138888943	138889031
ENSE00001531513	138886857	138886922
ENSE00001531516	138885674	138885830
ENSE00001531519	138885506	138885579
ENSE00001531522	138882724	138882871
ENSE00001531525	138880957	138881171
ENSE00001531528	138876472	138876558
ENSE00001531550	138846539	138846677
ENSE00001531553	138844412	138844580
ENSE00001547299	138812838	138812977
ENSE00001747099	138814491	138814603
ENSE00003500465	138862627	138862719
ENSE00003520793	138868103	138868206
ENSE00003630928	138864996	138865178
ENSE00003632506	138854026	138854154
ENSE00003704874	138796087	138796192
ENSE00003716460	138838352	138838514

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 88.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1382 / max 34.8197, expressed in 48 samples.

Highest expression (Bgee): uterine tube, olfactory segment of nasal mucosa, fallopian tube, heart left ventricle, lung.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ECT2L is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 26 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 26 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	3.0e-50	-0.65	6:138796035:G:A
Skin Sun Exposed Lower leg	eqtl	2.7e-15	+0.43	6:138794160:G:GATCT
Adipose Subcutaneous	eqtl	2.5e-13	+0.41	6:138794160:G:GATCT
Heart Left Ventricle	eqtl	4.5e-12	-0.40	6:138871605:A:G
Pituitary	eqtl	6.4e-12	-0.51	6:138909207:G:A
Esophagus Mucosa	eqtl	7.0e-12	-0.44	6:138893682:G:A
Heart Atrial Appendage	eqtl	3.1e-11	-0.46	6:138867558:C:T
Testis	eqtl	2.8e-10	+0.34	6:138789208:A:G
Esophagus Muscularis	eqtl	2.5e-09	-0.36	6:138796035:G:A
Artery Tibial	eqtl	1.6e-08	+0.37	6:138792499:GA:G
Adipose Visceral Omentum	eqtl	2.5e-07	+0.42	6:138794160:G:GATCT
Colon Sigmoid	eqtl	1.1e-06	-0.44	6:138793829:C:T
Breast Mammary Tissue	eqtl	1.2e-05	+0.30	6:138789208:A:G
Skin Not Sun Exposed Suprapubic	eqtl	1.4e-05	+0.28	6:138794160:G:GATCT
Adrenal Gland	eqtl	1.4e-05	+0.58	6:138784382:A:G
Colon Transverse	eqtl	1.5e-04	-0.34	6:138786059:A:G
Small Intestine Terminal Ileum	eqtl	3.3e-04	+0.49	6:138971546:A:G
Brain Cerebellar Hemisphere	eqtl	6.5e-04	+0.34	6:138971546:A:G
Thyroid	eqtl	9.8e-04	-0.24	6:138886773:C:T
Cells Cultured fibroblasts	eqtl	2.8e-03	-0.28	6:138793829:C:T

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
70124	0.0608	23
70123	0.0598	25
70125	0.0175	7

Top tissues by expression

showing 100 of 128 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	88.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.62	gold quality
fallopian tube	UBERON:0003889	70.13	gold quality
heart left ventricle	UBERON:0002084	62.61	gold quality
right lung	UBERON:0002167	61.51	gold quality
calcaneal tendon	UBERON:0003701	60.38	gold quality
pituitary gland	UBERON:0000007	60.05	gold quality
heart	UBERON:0000948	59.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.42	silver quality
right atrium auricular region	UBERON:0006631	59.12	gold quality
adenohypophysis	UBERON:0002196	57.22	gold quality
endometrium	UBERON:0001295	56.72	gold quality
ventricular zone	UBERON:0003053	56.49	gold quality
lung	UBERON:0002048	56.25	gold quality
cerebellar hemisphere	UBERON:0002245	54.93	gold quality
cerebellar cortex	UBERON:0002129	54.89	gold quality
cerebellum	UBERON:0002037	54.72	gold quality
bone marrow cell	CL:0002092	54.68	gold quality
Ammon’s horn	UBERON:0001954	54.44	gold quality
mucosa of transverse colon	UBERON:0004991	53.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	53.72	gold quality
corpus callosum	UBERON:0002336	53.71	gold quality
mucosa of stomach	UBERON:0001199	53.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	53.43	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.72	gold quality
hypothalamus	UBERON:0001898	52.59	gold quality
anterior cingulate cortex	UBERON:0009835	52.18	gold quality
granulocyte	CL:0000094	51.97	gold quality
caudate nucleus	UBERON:0001873	51.82	gold quality
upper lobe of left lung	UBERON:0008952	51.80	gold quality
brain	UBERON:0000955	51.76	gold quality
bone marrow	UBERON:0002371	51.57	silver quality
endocervix	UBERON:0000458	51.56	gold quality
saliva-secreting gland	UBERON:0001044	51.36	gold quality
skin of leg	UBERON:0001511	51.25	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.11	gold quality
zone of skin	UBERON:0000014	50.97	gold quality
amygdala	UBERON:0001876	50.91	gold quality
temporal lobe	UBERON:0001871	50.89	gold quality
skeletal muscle tissue	UBERON:0001134	50.83	gold quality
minor salivary gland	UBERON:0001830	50.59	gold quality
leukocyte	CL:0000738	50.49	silver quality
apex of heart	UBERON:0002098	50.44	gold quality
myometrium	UBERON:0001296	50.38	gold quality
skin of abdomen	UBERON:0001416	50.36	gold quality
cerebral cortex	UBERON:0000956	50.33	gold quality
nucleus accumbens	UBERON:0001882	50.31	gold quality
muscle tissue	UBERON:0002385	50.31	gold quality
monocyte	CL:0000576	49.88	silver quality
lower esophagus muscularis layer	UBERON:0035833	49.70	gold quality
lower esophagus	UBERON:0013473	49.64	gold quality
body of uterus	UBERON:0009853	49.41	gold quality
right frontal lobe	UBERON:0002810	49.30	gold quality
urinary bladder	UBERON:0001255	49.27	gold quality
uterine cervix	UBERON:0000002	49.09	gold quality
duodenum	UBERON:0002114	49.03	gold quality
primary visual cortex	UBERON:0002436	48.95	silver quality
substantia nigra	UBERON:0002038	48.90	gold quality
colonic epithelium	UBERON:0000397	48.77	gold quality
left uterine tube	UBERON:0001303	48.74	gold quality
liver	UBERON:0002107	48.56	silver quality
multicellular organism	UBERON:0000468	48.34	gold quality
muscle of leg	UBERON:0001383	48.23	silver quality
blood	UBERON:0000178	48.10	gold quality
tibial nerve	UBERON:0001323	48.05	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	47.90	gold quality
smooth muscle tissue	UBERON:0001135	47.78	gold quality
esophagus	UBERON:0001043	47.65	gold quality
frontal cortex	UBERON:0001870	47.60	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	47.51	gold quality
right lobe of liver	UBERON:0001114	47.35	gold quality
gall bladder	UBERON:0002110	47.07	gold quality
putamen	UBERON:0001874	46.98	gold quality
islet of Langerhans	UBERON:0000006	46.73	gold quality
prefrontal cortex	UBERON:0000451	46.63	gold quality
gastrocnemius	UBERON:0001388	46.55	silver quality
muscle layer of sigmoid colon	UBERON:0035805	46.38	gold quality
tibial artery	UBERON:0007610	46.16	gold quality
popliteal artery	UBERON:0002250	46.12	gold quality
thoracic mammary gland	UBERON:0005200	46.11	gold quality
lower esophagus mucosa	UBERON:0035834	46.10	silver quality
lymph node	UBERON:0000029	46.08	gold quality
adrenal tissue	UBERON:0018303	46.04	gold quality
prostate gland	UBERON:0002367	45.97	gold quality
fundus of stomach	UBERON:0001160	45.79	gold quality
vagina	UBERON:0000996	45.77	gold quality
esophagus mucosa	UBERON:0002469	45.60	gold quality
left adrenal gland cortex	UBERON:0035825	45.33	gold quality
testis	UBERON:0000473	45.18	gold quality
subcutaneous adipose tissue	UBERON:0002190	45.06	gold quality
stomach	UBERON:0000945	44.91	gold quality
descending thoracic aorta	UBERON:0002345	44.87	gold quality
adrenal gland	UBERON:0002369	44.84	gold quality
right coronary artery	UBERON:0001625	44.66	gold quality
thyroid gland	UBERON:0002046	44.64	gold quality
colon	UBERON:0001155	44.51	gold quality
right adrenal gland cortex	UBERON:0035827	44.47	gold quality
superior frontal gyrus	UBERON:0002661	44.44	silver quality
intestine	UBERON:0000160	44.26	gold quality
body of stomach	UBERON:0001161	44.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.13

HPA expression

RNA tissue specificity: Tissue enriched

57 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Fallopian tube	tissue	8.1
Choroid plexus	tissue	6.2
Periaqueductal gray	tissue	4.4
Hippocampus	tissue	3.5
Postcentral gyrus	tissue	2.6
Locus coeruleus	tissue	2.4
Basal ganglia	tissue	2.1
Nucleus accumbens	tissue	2.0
Hypothalamus	tissue	1.6
Heart muscle	tissue	1.5
Hippocampal formation	tissue	1.5
Septum	tissue	1.5
Lung	tissue	1.4
Pons	tissue	1.3
Medulla oblongata	tissue	1.0
Amygdala	tissue	0.9
Thalamus	tissue	0.9
Corpus callosum	tissue	0.9
Midbrain	tissue	0.8
Ventral forebrain	tissue	0.8
Superior colliculi	tissue	0.6
Spinal cord	tissue	0.6
Cerebral cortex	tissue	0.5
Putamen	tissue	0.5
Substantia nigra	tissue	0.5
Olfactory bulb	tissue	0.5
Retrosplenial cortex	tissue	0.5
Cervix	tissue	0.4
Skin 1	tissue	0.4
Prefrontal cortex	tissue	0.4
Retina	tissue	0.4
Motor cortex	tissue	0.4
Cerebellum	tissue	0.4
Entorhinal cortex	tissue	0.4
Retrosplenial and cingulate cortex	tissue	0.4
Insular cortex	tissue	0.4
Breast	tissue	0.3
Testis	tissue	0.3
Urinary bladder	tissue	0.3
Adrenal gland	tissue	0.3
Bone marrow	tissue	0.3
Somatosensory cortex	tissue	0.3
Temporal cortex	tissue	0.3
Occipital cortex	tissue	0.3
Pituitary gland	tissue	0.2
Salivary gland	tissue	0.2
Skeletal muscle	tissue	0.2
Endometrium 1	tissue	0.2
Lymph node	tissue	0.1
Stomach 1	tissue	0.1
Vagina	tissue	0.1
Smooth muscle	tissue	0.1
Thyroid gland	tissue	0.1
Spleen	tissue	0.1
Prostate	tissue	0.1
Caudate putamen	tissue	0.1
Appendix	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Nucleus tractus solitarii (6.7), Periaquaductal grey, lateral (5.9), Hippocampus, CA1 (5.3), Cervical spinal cord, central gray (5.2), Corticomedial amygdala (5.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ECT2L by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 62 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4422	99.72	72.07	2908

Functional genomics

gnomAD constraint: pLI 6.69e-35, LOEUF 1.13, missense Z 0.996 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000541398 — one region, missense o/e 0.95.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ect2l	ENSDARG00000091471
mus_musculus	Ect2l	ENSMUSG00000071392
rattus_norvegicus	Ect2l	ENSRNOG00000055142
caenorhabditis_elegans		WBGENE00001366
caenorhabditis_elegans		WBGENE00001490

Paralogs (10): FARP2 (ENSG00000006607), FGD1 (ENSG00000102302), FGD3 (ENSG00000127084), ARHGEF39 (ENSG00000137135), FGD4 (ENSG00000139132), FGD2 (ENSG00000146192), FARP1 (ENSG00000152767), FGD5 (ENSG00000154783), FRMD7 (ENSG00000165694), FGD6 (ENSG00000180263)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Aspergillus fumigatus A1163	B0XTS1	100.0%	Diamond
Aspergillus fumigatus Af293	Q4X0A9	100.0%	Diamond
Trichophyton benhamiae CBS 112371	D4AM37	99.5%	Diamond
Trichophyton verrucosum HKI 0517	D4D8P3	99.5%	Diamond
Aspergillus flavus NRRL3357	B8NGT5	98.5%	Diamond
Aspergillus oryzae RIB40	Q2UFN8	98.5%	Diamond
Bos taurus	F1MNN4	96.9%	Diamond
Aspergillus fischeri NRRL 181	A1DHW6	95.6%	Diamond
Talaromyces stipitatus ATCC 10500	B8M7Q5	90.3%	Diamond
Microsporum canis CBS 113480	C5FP68	88.7%	Diamond
Drosophila melanogaster	Q9VZF4	82.7%	Diamond
Aspergillus niger CBS 513.88	A2QCU8	80.8%	Diamond
Aspergillus nidulans FGSC A4	Q00659	80.8%	Diamond
Aspergillus clavatus NRRL 1	A1C7E4	80.6%	Diamond
Aspergillus terreus NIH2624	Q0CY32	80.3%	Diamond
Penicillium rubens Wisconsin 54-1255	B6GZA1	68.7%	Diamond
Schizosaccharomyces pombe 972h-	P87053	54.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CCDC28A	protein-coding	25901
NHSL1-AS1	ncRNA	441172
NHSL1	protein-coding	57224
ABRACL	protein-coding	58527
REPS1	protein-coding	85021
TXLNB	protein-coding	167838
HECA	protein-coding	51696
CCDC28A-AS1	ncRNA	100507462
CITED2	protein-coding	10370

Protein

Protein identifiers

Epithelial cell-transforming sequence 2 oncogene-like — Q008S8 (reviewed: Q008S8)

Alternative names: Lung-specific F-box and DH domain-containing protein, Putative guanine nucleotide exchange factor LFDH

All UniProt accessions (2): B7ZBI6, Q008S8

UniProt curated annotations — full annotation on UniProt →

Function. May act as a guanine nucleotide exchange factor (GEF).

RefSeq proteins (2): NP_001071174, NP_001181966 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001810	F-box_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR025592	DUF4347	Domain
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036047	F-box-like_dom_sf	Homologous_superfamily
IPR052805	ECT2L_FBXO16	Family

Pfam: PF00621, PF12937, PF14252

UniProt features (10 total): sequence conflict 4, sequence variant 3, domain 2, chain 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
11XU	In situ subtomogram average of the transition zone linker in human airway cilia …	ELECTRON MICROSCOPY	9.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q008S8-F1	74.75	0.22

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; vesicles

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 30 (showing top): GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, PAX3_TARGET_GENES, ZNF22_TARGET_GENES, MIR335_3P, MIR3658, MIR4262, MIR561_3P, MIR4766_5P, MIR7154_5P, MIR595, MIR3614_3P, MIR1243

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO top-level categories

4 GO namespaces:

Category	Terms
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1

Protein interactions and networks

STRING

showing 15 of 486 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ECT2L	FBXO48	Q5FWF7	551
ECT2L	FBXO47	Q5MNV8	537
ECT2L	CCDC28A	Q8IWP9	441
ECT2L	PLEKHG4B	Q96PX9	412
ECT2L	ARHGEF19	Q8IW93	386
ECT2L	FGD5	Q6ZNL6	382
ECT2L	FBXL13	Q8NEE6	370
ECT2L	FBXL22	Q6P050	370
ECT2L	LMO7	Q8WWI1	370
ECT2L	FBXL15	Q9H469	360
ECT2L	Q8WV35	Q8WV35	360
ECT2L	FBXL7	Q9UJT9	360
ECT2L	FBXL8	Q96CD0	358
ECT2L	FBXO25	Q8TCJ0	358
ECT2L	FBXO2	Q9UK22	352

IntAct

Human interaction partners of ECT2L in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
GSTM3	association	0.530	2
HMGA1	physical association	0.400	1
HNRNPC	physical association	0.400	1
HNRNPCL2	physical association	0.400	1
KCTD19	association	0.350	1
NEFL	association	0.350	1
TOMM40	association	0.350	1

BioGRID (33 interactions; top human partners by supporting records): GSTM3 (Affinity Capture-MS; 3 records), SKP1 (Affinity Capture-MS; 2 records), AHNAK2 (Cross-Linking-MS (XL-MS)), CEP76 (Cross-Linking-MS (XL-MS)), CHP1 (Affinity Capture-MS), CTNNA1 (Affinity Capture-MS), DGKZ (Affinity Capture-MS), ESR1 (Affinity Capture-MS), FARSA (Affinity Capture-MS), HAX1 (Affinity Capture-MS), HNRNPCL2 (Cross-Linking-MS (XL-MS)), INA (Affinity Capture-MS), KCTD19 (Affinity Capture-MS), LRRC74A (Affinity Capture-MS), MAGED1 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ECT2L: 165 ClinVar records (0 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation; 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	7
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 34 predictions of 2,739):

Position(s)	Effect	Δscore	Sites
6:138796193–138796194	donor_loss	0.9900	5
6:138838496	donor_gain	0.9900
6:138843232–138843233	donor_loss	0.9900	5
6:138849267–138849268	acceptor_loss	0.9900	6
6:138849435–138849436	donor_loss	0.9900	6
6:138850088	donor_gain	0.9900
6:138855128	donor_gain	0.9900
6:138855146	donor_gain	0.9900
6:138864934	acceptor_gain	0.9900
6:138868100–138868102	acceptor_loss	0.9900	7

AlphaMissense

1,056 missense substitutions predicted likely pathogenic (of 5,958 scored), across 352 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D115	8	0.901	0.967
F684	8	0.864	0.960
D733	8	0.789	0.903
W141	7	0.966	0.993
W127	7	0.938	0.990
W118	7	0.937	0.986
W108	7	0.934	0.991
W38	7	0.928	0.989
W374	7	0.915	0.991
W11	7	0.900	0.977
E578	7	0.897	0.964
W457	7	0.886	0.982
F687	7	0.872	0.970
F35	7	0.869	0.961
C122	7	0.868	0.980
F393	7	0.861	0.944
F373	7	0.853	0.957
W34	7	0.851	0.967
F128	7	0.848	0.963
F24	7	0.842	0.942

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST003208_5	Colorectal or endometrial cancer	4e-7

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0004230	endometrial neoplasm

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

1 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs11155012	Efficacy	3	anthracyclines and related substances	Breast Neoplasms

PharmGKB variants

1 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11155012	ECT2L	3	1.75	1	anthracyclines and related substances

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

1 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs11155012	anthracyclines and related substances	Efficacy	Allele A is associated with increased risk of Death when treated with anthracyclines and related substances in women with Breast Neoplasms as compared to allele G.	PMID:25823661

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation	1
aflatoxin B2	decreases methylation	1
2,6-dichloro-(1,4)benzoquinone	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.