EOLA2

Summary

EOLA2 (endothelium and lymphocyte associated ASCH domain 2, HGNC:17402) is a protein-coding gene on chromosome Xq28, encoding Protein EOLA2 (Q96DE9).

Located in mitochondrion.

Source: NCBI Gene 541578 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 23 total — 1 likely-pathogenic
• MANE Select transcript: NM_001013845

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17402
Approved symbol	EOLA2
Name	endothelium and lymphocyte associated ASCH domain 2
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197021
Ensembl biotype	protein_coding
Entrez	541578

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 49 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000355203, ENST00000370404, ENST00000370406, ENST00000370409, ENST00000462691, ENST00000483447, ENST00000497550, ENST00000884057, ENST00000884058, ENST00000884059, ENST00000884060, ENST00000884061, ENST00000884062, ENST00000884063, ENST00000884064, ENST00000884065, ENST00000884066, ENST00000884067, ENST00000884068, ENST00000884069, ENST00000884070, ENST00000884071, ENST00000884072, ENST00000884073, ENST00000884074, ENST00000884075, ENST00000884076, ENST00000884077, ENST00000884078, ENST00000923949, ENST00000923950, ENST00000923951, ENST00000923952, ENST00000923953, ENST00000923954, ENST00000923955, ENST00000923956, ENST00000923957, ENST00000923958, ENST00000923959, ENST00000923960, ENST00000923961, ENST00000953992, ENST00000953993, ENST00000953994, ENST00000953995, ENST00000953996, ENST00000953997, ENST00000953998, ENST00000953999

RefSeq mRNA: 1 — MANE Select: NM_001013845 NM_001013845

CCDS: CCDS35426

Canonical transcript exons

ENST00000370406 — 5 exons

Exon	Start	End
ENSE00001665994	149934005	149934137
ENSE00001709470	149937433	149937480
ENSE00001886028	149938193	149938491
ENSE00001924427	149932197	149932767
ENSE00003671200	149933622	149933903

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0022 / max 75.1733, expressed in 1808 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200823	17.6935	1808
200822	0.3087	157

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.85	gold quality
mucosa of stomach	UBERON:0001199	93.53	gold quality
skin of leg	UBERON:0001511	93.18	gold quality
skin of abdomen	UBERON:0001416	93.17	gold quality
zone of skin	UBERON:0000014	93.07	gold quality
left ovary	UBERON:0002119	92.96	gold quality
pituitary gland	UBERON:0000007	92.94	gold quality
adenohypophysis	UBERON:0002196	92.90	gold quality
body of pancreas	UBERON:0001150	92.82	gold quality
apex of heart	UBERON:0002098	92.35	gold quality
metanephros cortex	UBERON:0010533	92.23	gold quality
left adrenal gland cortex	UBERON:0035825	92.06	gold quality
ovary	UBERON:0000992	92.00	gold quality
placenta	UBERON:0001987	91.80	gold quality
left uterine tube	UBERON:0001303	91.68	gold quality
right ovary	UBERON:0002118	91.55	gold quality
spleen	UBERON:0002106	91.52	gold quality
body of stomach	UBERON:0001161	91.45	gold quality
minor salivary gland	UBERON:0001830	91.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.27	gold quality
tibial nerve	UBERON:0001323	91.19	gold quality
saliva-secreting gland	UBERON:0001044	91.14	gold quality
left lobe of thyroid gland	UBERON:0001120	91.09	gold quality
right lobe of liver	UBERON:0001114	91.07	gold quality
thoracic mammary gland	UBERON:0005200	91.05	gold quality
left adrenal gland	UBERON:0001234	90.92	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.91	gold quality
right atrium auricular region	UBERON:0006631	90.87	gold quality
thyroid gland	UBERON:0002046	90.71	gold quality
right adrenal gland	UBERON:0001233	90.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting EOLA2, 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-LET-7C-3P	99.95	73.42	2862
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-3974	96.56	66.22	928

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Eola1	ENSMUSG00000045237
rattus_norvegicus	Eola2	ENSRNOG00000063254

Paralogs (1): EOLA1 (ENSG00000197620)

Protein

Protein identifiers

Protein EOLA2 — Q96DE9 (reviewed: Q96DE9)

Alternative names: Protein CXorf40B

All UniProt accessions (4): Q96DE9, Q5HY62, S4R3G8, S4R3T8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the EOLA family.

RefSeq proteins (1): NP_001013867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007374	ASCH_domain	Domain
IPR015947	PUA-like_sf	Homologous_superfamily
IPR033615	EOLA1/EOLA2	Family

UniProt features (2 total): chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96DE9-F1	95.36	0.93

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): chrXq28, E2F2_TARGET_GENES, HES4_TARGET_GENES, NCOA6_TARGET_GENES, SIX1_TARGET_GENES, ZNF592_TARGET_GENES, GSE11864_CSF1_VS_CSF1_IFNG_IN_MAC_DN, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE14000_TRANSLATED_RNA_VS_MRNA_4H_LPS_DC_DN, GSE14000_UNSTIM_VS_16H_LPS_DC_DN, GSE14000_4H_VS_16H_LPS_DC_DN, DESCARTES_MAIN_FETAL_HEMATOPOIETIC_STEM_CELLS, ZNF740_TARGET_GENES, ELF5_TARGET_GENES, DNMT3A_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

152 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EOLA2	HSFX4	A0A1B0GTS1	720
EOLA2	CXorf51A	A0A1B0GTR3	646
EOLA2	SPANXN4	Q5MJ08	574
EOLA2	SPANXN3	Q5MJ09	570
EOLA2	ZSCAN5A	Q9BUG6	540
EOLA2	SPANXN2	Q5MJ10	520
EOLA2	SPANXN1	Q5VSR9	513
EOLA2	ZIK1	Q3SY52	479
EOLA2	PRAMEF10	O60809	476
EOLA2	HSFX1	Q9UBD0	447
EOLA2	FMR1NB	Q8N0W7	446
EOLA2	TMEM185A	Q8NFB2	446
EOLA2	SPANXD	Q9BXN6	434
EOLA2	CCSAP	Q6IQ19	432
EOLA2	C21orf91	Q9NYK6	432

IntAct

4 interactions, top by confidence:

A	B	Type	Score
IL25	PPM1B	psi-mi:“MI:0914”(association)	0.530
EOLA1	AGRN	psi-mi:“MI:0914”(association)	0.350
PTP4A1	NME6	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0A2IBN3, A0A0H3G0N3, A1K7I0, A5UDX7, A5UHQ2, B0U5U4, B2FJE7, B2I916, B4SMR2, B5Y822, K2PFJ6, O31151, O65979, O84252, O84340, O87455, P03028, P06519, P0AFH0, P0AFH1, P0DUD5, P19220, P21220, P31858, P44410, P44687, P44857, P45876, P73412, P78578, Q0HPW7, Q0I2G8, Q1MSG8, Q1QBY7, Q2YAC1, Q30YX9, Q4FS24, Q4QMF0, Q55575, Q5RAX6

Diamond homologs: Q5RAX6, Q8TE69, Q96DE9, Q9D1F3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	7
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	Likely pathogenic

SpliceAI

790 predictions. Top by Δscore:

Variant	Effect	Δscore
X:149932763:GAGTC:G	acceptor_gain	1.0000
X:149932764:AGTCC:A	acceptor_loss	1.0000
X:149932765:GTC:G	acceptor_gain	1.0000
X:149932766:TC:T	acceptor_gain	1.0000
X:149932766:TCCTG:T	acceptor_loss	1.0000
X:149932767:CC:C	acceptor_gain	1.0000
X:149932767:CCTGT:C	acceptor_loss	1.0000
X:149932768:C:CC	acceptor_gain	1.0000
X:149932768:CT:C	acceptor_loss	1.0000
X:149932769:T:A	acceptor_loss	1.0000
X:149933617:CTTA:C	donor_loss	1.0000
X:149933618:TTAC:T	donor_loss	1.0000
X:149933619:TACC:T	donor_loss	1.0000
X:149933620:A:AC	donor_gain	1.0000
X:149933620:AC:A	donor_gain	1.0000
X:149933620:ACC:A	donor_gain	1.0000
X:149933620:ACCCG:A	donor_gain	1.0000
X:149933621:C:CC	donor_gain	1.0000
X:149933621:CC:C	donor_gain	1.0000
X:149933621:CCC:C	donor_gain	1.0000
X:149933621:CCCG:C	donor_gain	1.0000
X:149933621:CCCGC:C	donor_gain	1.0000
X:149933655:T:A	donor_gain	1.0000
X:149933904:C:CA	acceptor_loss	1.0000
X:149933904:C:CC	acceptor_gain	1.0000
X:149933905:T:A	acceptor_loss	1.0000
X:149934003:A:AC	donor_gain	1.0000
X:149934003:ACCT:A	donor_loss	1.0000
X:149934004:C:CC	donor_gain	1.0000
X:149934004:C:CG	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS111986465 (X:149938629 C>T), RS112429616 (X:149938764 G>A), RS112713909 (X:149937414 C>T), RS112864494 (X:149938835 A>C), RS113755057 (X:149931043 G>A), RS1156517555 (X:149939645 CA>C), RS1156535447 (X:149939286 GA>G), RS1156687056 (X:149938855 TG>T), RS1156914711 (X:149937509 G>A,C), RS1156974701 (X:149936576 C>T), RS1156994337 (X:149938226 C>A,G), RS1157274987 (X:149935759 A>G), RS1157333990 (X:149934925 A>T), RS1157346610 (X:149933928 C>A,T), RS1157875277 (X:149933090 C>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
titanium dioxide	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders