EPHA10

Summary

EPHA10 (EPH receptor A10, HGNC:19987) is a protein-coding gene on chromosome 1p34.3, encoding Ephrin type-A receptor 10 (Q5JZY3). Receptor for members of the ephrin-A family.

Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.

Source: NCBI Gene 284656 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hearing loss, autosomal dominant 88 (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 205 total — 1 pathogenic
• Phenotypes (HPO): 3
• Druggable target: yes
• MANE Select transcript: NM_001099439

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19987
Approved symbol	EPHA10
Name	EPH receptor A10
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16103, FLJ33655
Ensembl gene	ENSG00000183317
Ensembl biotype	protein_coding
OMIM	611123
Entrez	284656

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 nonsense_mediated_decay, 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000319637, ENST00000373048, ENST00000427468, ENST00000432874, ENST00000437645, ENST00000444950, ENST00000446149, ENST00000453577, ENST00000525749, ENST00000534097

RefSeq mRNA: 2 — MANE Select: NM_001099439 NM_001099439, NM_173641

CCDS: CCDS41305, CCDS425

Canonical transcript exons

ENST00000373048 — 17 exons

Exon	Start	End
ENSE00001459406	37752876	37753226
ENSE00001459407	37754215	37754370
ENSE00001459408	37761405	37762083
ENSE00001776249	37715976	37718486
ENSE00002051945	37762785	37762849
ENSE00003477597	37721660	37721845
ENSE00003515096	37731411	37731582
ENSE00003528058	37720351	37720554
ENSE00003573684	37735257	37735390
ENSE00003577320	37727102	37727210
ENSE00003590293	37718661	37718816
ENSE00003619271	37723311	37723372
ENSE00003630484	37719909	37720058
ENSE00003639548	37720783	37720844
ENSE00003648762	37723041	37723166
ENSE00003669162	37719414	37719607
ENSE00003844082	37764961	37765120

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 96.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4161 / max 57.4145, expressed in 99 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11801	0.3271	89
11796	0.0380	11
11795	0.0301	7
11797	0.0209	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.11	silver quality
mucosa of transverse colon	UBERON:0004991	91.36	gold quality
left testis	UBERON:0004533	90.42	gold quality
right testis	UBERON:0004534	89.65	gold quality
testis	UBERON:0000473	86.74	gold quality
transverse colon	UBERON:0001157	86.10	gold quality
rectum	UBERON:0001052	85.41	gold quality
ileal mucosa	UBERON:0000331	82.84	gold quality
right frontal lobe	UBERON:0002810	81.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.26	gold quality
nucleus accumbens	UBERON:0001882	81.07	gold quality
colonic epithelium	UBERON:0000397	81.03	gold quality
pituitary gland	UBERON:0000007	80.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.10	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.97	gold quality
prefrontal cortex	UBERON:0000451	79.38	gold quality
oocyte	CL:0000023	79.14	gold quality
adenohypophysis	UBERON:0002196	78.99	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.76	gold quality
anterior cingulate cortex	UBERON:0009835	78.72	gold quality
frontal cortex	UBERON:0001870	77.89	gold quality
secondary oocyte	CL:0000655	77.45	gold quality
neocortex	UBERON:0001950	77.43	gold quality
hypothalamus	UBERON:0001898	77.30	gold quality
small intestine	UBERON:0002108	77.22	gold quality
caudate nucleus	UBERON:0001873	77.01	gold quality
cortical plate	UBERON:0005343	76.30	gold quality
putamen	UBERON:0001874	75.74	gold quality
forebrain	UBERON:0001890	75.72	gold quality
cerebral cortex	UBERON:0000956	75.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting EPHA10, 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-7110-3P	100.00	73.18	2486
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-6080	99.43	69.43	373
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-6865-3P	97.54	64.67	684
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137

Literature-anchored findings (GeneRIF, showing 12)

• CLL B-cells showed a more heterogeneous Eph/EFN profile, specially EFNA4, EphB6 and EphA10. (PMID:18819711)
• EPHA10 does not interact with EPHB6 in breast neoplasms (PMID:21737611)
• EphA10 expression at both the gene and protein level in clinical breast cancer tissues is significantly associated with lymph node metastasis as well as stage progression. (PMID:24403271)
• Therefore, the idea was conceived that the overexpression of EphA10 in prostate cancers might have a potential as a target for prostate cancer therapy, and formed the basis for the studies reported here. (PMID:24924629)
• Ephrin receptor A10 is a promising drug target potentially useful for breast cancers including triple negative breast cancers (PMID:24946238)
• We have demonstrated the physical association and cellular co-localization of EPHA7 and EPHA10 in breast carcinoma cells. The nuclear co-localization of these two receptors in invasive MDA-MB-231 cells suggests their involvement in transcriptional activation of genes involved in invasiveness. (PMID:27566654)
• we defined the novel interaction via expression patterns of EphA10s and EphA10 that promote malignant transformation of breast cancer, and demonstrated the potential benefit in clinical usage. (PMID:28427223)
• Cataloguing the dead: breathing new life into pseudokinase research. (PMID:32053275)
• Ephrin A4-ephrin receptor A10 signaling promotes cell migration and spheroid formation by upregulating NANOG expression in oral squamous cell carcinoma cells. (PMID:33436772)
• Coexpression of EphA10 and Gli3 promotes breast cancer cell proliferation, invasion and migration. (PMID:33990369)
• EphA10 drives tumor progression and immune evasion by regulating the MAPK/ERK cascade in lung adenocarcinoma. (PMID:35839564)
• A non-coding variant in 5’ untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans. (PMID:36048850)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Epha10	ENSMUSG00000028876
rattus_norvegicus	Epha10	ENSRNOG00000037340

Paralogs (53): INSRR (ENSG00000027644), MUSK (ENSG00000030304), FLT4 (ENSG00000037280), EPHA3 (ENSG00000044524), ROS1 (ENSG00000047936), LTK (ENSG00000062524), ERBB3 (ENSG00000065361), TIE1 (ENSG00000066056), FGFR2 (ENSG00000066468), FGFR3 (ENSG00000068078), EPHA8 (ENSG00000070886), FGFR1 (ENSG00000077782), EPHA6 (ENSG00000080224), TYRO3 (ENSG00000092445), FLT1 (ENSG00000102755), MET (ENSG00000105976), EPHB6 (ENSG00000106123), PDGFRB (ENSG00000113721), EPHA4 (ENSG00000116106), TEK (ENSG00000120156), FLT3 (ENSG00000122025), KDR (ENSG00000128052), EPHB2 (ENSG00000133216), PDGFRA (ENSG00000134853), EPHA7 (ENSG00000135333), IGF1R (ENSG00000140443), NTRK3 (ENSG00000140538), ERBB2 (ENSG00000141736), EPHA2 (ENSG00000142627), EPHA5 (ENSG00000145242), EGFR (ENSG00000146648), EPHA1 (ENSG00000146904), NTRK2 (ENSG00000148053), MERTK (ENSG00000153208), EPHB1 (ENSG00000154928), KIT (ENSG00000157404), FGFR4 (ENSG00000160867), DDR2 (ENSG00000162733), RYK (ENSG00000163785), MST1R (ENSG00000164078)

Protein

Protein identifiers

Ephrin type-A receptor 10 — Q5JZY3 (reviewed: Q5JZY3)

All UniProt accessions (6): Q5JZY3, H0YCC9, H0YD12, H0YEP6, H0YER4, J3KQG3

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5.

Subcellular location. Cell membrane Cell membrane Secreted.

Tissue specificity. Mainly expressed in testis.

Disease relevance. Deafness, autosomal dominant, 88 (DFNA88) [MIM:620283] A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA88 is characterized by postlingual, progressive and severe hearing loss with tinnitus. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The protein kinase domain is predicted to be catalytically inactive.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5JZY3-1	1	yes
Q5JZY3-2	2, Epha10s
Q5JZY3-3	3, Epha10*

RefSeq proteins (2): NP_001092909, NP_775912 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001090	EPH_LBD	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR001426	Tyr_kinase_rcpt_V_CS	Conserved_site
IPR001660	SAM	Domain
IPR003961	FN3_dom	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR016257	EPH	Family
IPR027936	EPH_TM	Domain
IPR036116	FN3_sf	Homologous_superfamily
IPR050449	Ephrin_rcpt_TKs	Family

Pfam: PF00041, PF01404, PF07647, PF07714, PF14575, PF25599

Catalyzed reactions (Rhea), 1 shown:

• L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+) (RHEA:10596)

UniProt features (30 total): sequence variant 11, domain 5, splice variant 4, glycosylation site 2, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JZY3-F1	79.56	0.40

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 311, 486

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2682334	EPH-Ephrin signaling
R-HSA-3928663	EPHA-mediated growth cone collapse
R-HSA-3928665	EPH-ephrin mediated repulsion of cells

MSigDB gene sets: 69 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_NEUROGENESIS, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, chr1p34, GOBP_EPHRIN_RECEPTOR_SIGNALING_PATHWAY, GOMF_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_CELL_SURFACE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY, GOCC_SOMATODENDRITIC_COMPARTMENT, GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY

GO Biological Process (4): axon guidance (GO:0007411), ephrin receptor signaling pathway (GO:0048013), protein phosphorylation (GO:0006468), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169)

GO Molecular Function (10): transmembrane-ephrin receptor activity (GO:0005005), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein tyrosine kinase activity (GO:0004713), transmembrane receptor protein tyrosine kinase activity (GO:0004714), ephrin receptor activity (GO:0005003), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020), dendrite (GO:0030425)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
EPH-Ephrin signaling	2
Axon guidance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
axonogenesis	1
neuron projection guidance	1
cell surface receptor protein tyrosine kinase signaling pathway	1
phosphorylation	1
protein modification process	1
enzyme-linked receptor protein signaling pathway	1
ephrin receptor activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
protein kinase activity	1
protein tyrosine kinase activity	1
transmembrane receptor protein kinase activity	1
transmembrane receptor protein tyrosine kinase activity	1
ephrin receptor signaling pathway	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
membrane	1
cell periphery	1
neuron projection	1
dendritic tree	1

Protein interactions and networks

STRING

1176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPHA10	EFNA1	P20827	993
EPHA10	EFNA4	P52798	969
EPHA10	EFNA3	P52797	960
EPHA10	EFNA5	P52803	920
EPHA10	EFNA2	O43921	919
EPHA10	EFNB1	P98172	917
EPHA10	EFNB2	P52799	882
EPHA10	EFNB3	Q15768	774
EPHA10	EPHA7	Q15375	659
EPHA10	PEAK1	Q9H792	460
EPHA10	FN1	P02751	449
EPHA10	ERBB3	P21860	438
EPHA10	PTK7	Q13308	434
EPHA10	EPHB6	O15197	430
EPHA10	RTN4RL1	Q86UN2	425

IntAct

5 interactions, top by confidence:

A	B	Type	Score
EPHA10	MYO1C	psi-mi:“MI:0914”(association)	0.350
EPHA7	PLOD3	psi-mi:“MI:0914”(association)	0.350
EPHA10	PLOD2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (92): EPHA10 (Two-hybrid), EPHA10 (Two-hybrid), EPHA10 (Two-hybrid), EPHA10 (Two-hybrid), EPHA10 (Affinity Capture-MS), EPHA10 (Affinity Capture-MS), HSPA1B (Affinity Capture-MS), DNAJC3 (Affinity Capture-MS), MYO6 (Affinity Capture-MS), DNAJC16 (Affinity Capture-MS), DNAJB11 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), PDIA4 (Affinity Capture-MS), HLA-C (Affinity Capture-MS), CALM3 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A7N9VSG0, A7YSY2, D3KCC4, D3ZU57, D4A2B7, O08644, O15197, O19179, O43542, O75064, O95382, P0C0K6, P0C0K7, P51840, P52785, P52824, P54777, Q02846, Q05932, Q13470, Q13608, Q1HG60, Q3ZBE0, Q4KM32, Q5JZY3, Q643R3, Q6MG64, Q6NVG1, Q6ZPS2, Q76MJ5, Q7TNJ2, Q80SX8, Q8BYG9, Q8IZY2, Q8NFF5, Q8R5G7, Q8TDZ2, Q8WWN8, Q91V24

Diamond homologs: O08644, O08680, O09127, O13146, O13147, O13148, O15197, O35346, O42422, O45539, O73875, O73878, P00523, P00525, P00527, P00530, P00541, P00542, P00543, P05480, P07332, P09324, P09759, P09760, P0C0K6, P0C0K7, P12931, P13115, P13116, P14084, P14085, P14234, P14238, P15054, P16591, P16879, P18106, P21709, P24604, P28693

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EPHA7	“up-regulates activity”	EPHA10	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	161
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1698698	NM_001099439.1(EPHA10):c.-81_-73delinsAGC	Pathogenic

SpliceAI

3870 predictions. Top by Δscore:

Variant	Effect	Δscore
1:37718659:A:AC	donor_gain	1.0000
1:37718660:C:CC	donor_gain	1.0000
1:37718767:C:CT	acceptor_gain	1.0000
1:37719614:C:CT	acceptor_gain	1.0000
1:37719616:C:CT	acceptor_gain	1.0000
1:37719617:A:T	acceptor_gain	1.0000
1:37719905:TCA:T	donor_loss	1.0000
1:37719906:CAC:C	donor_loss	1.0000
1:37719907:A:AC	donor_gain	1.0000
1:37719907:ACGT:A	donor_gain	1.0000
1:37719908:C:CT	donor_gain	1.0000
1:37719908:CG:C	donor_gain	1.0000
1:37719908:CGT:C	donor_gain	1.0000
1:37719908:CGTC:C	donor_gain	1.0000
1:37720057:CT:C	acceptor_gain	1.0000
1:37720059:C:CC	acceptor_gain	1.0000
1:37720781:AC:A	donor_gain	1.0000
1:37720782:CC:C	donor_gain	1.0000
1:37720852:C:CT	acceptor_gain	1.0000
1:37720852:C:T	acceptor_gain	1.0000
1:37720853:A:T	acceptor_gain	1.0000
1:37721841:CCGCC:C	acceptor_gain	1.0000
1:37721842:CGCCC:C	acceptor_gain	1.0000
1:37723003:T:TA	donor_gain	1.0000
1:37723022:T:TA	donor_gain	1.0000
1:37723042:T:TA	donor_gain	1.0000
1:37723162:TTTGA:T	acceptor_gain	1.0000
1:37723167:C:CC	acceptor_gain	1.0000
1:37723309:A:AC	donor_gain	1.0000
1:37723310:C:CC	donor_gain	1.0000

AlphaMissense

6470 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:37753156:C:A	W359C	1.000
1:37753156:C:G	W359C	1.000
1:37761469:C:A	W262C	1.000
1:37761469:C:G	W262C	1.000
1:37761662:C:T	C198Y	1.000
1:37761680:A:G	F192S	1.000
1:37761772:G:C	F161L	1.000
1:37761772:G:T	F161L	1.000
1:37761773:A:C	F161C	1.000
1:37761774:A:G	F161L	1.000
1:37761878:A:G	F126S	1.000
1:37761934:G:C	F107L	1.000
1:37761934:G:T	F107L	1.000
1:37761935:A:C	F107C	1.000
1:37761935:A:G	F107S	1.000
1:37761936:A:G	F107L	1.000
1:37761992:A:G	L88P	1.000
1:37762025:C:G	C77S	1.000
1:37762025:C:T	C77Y	1.000
1:37762026:A:T	C77S	1.000
1:37762081:C:A	W58C	1.000
1:37762081:C:G	W58C	1.000
1:37762083:A:G	W58R	1.000
1:37762083:A:T	W58R	1.000
1:37762806:C:A	W50C	1.000
1:37762806:C:G	W50C	1.000
1:37731494:A:G	F527S	0.999
1:37735326:C:A	W474C	0.999
1:37735326:C:G	W474C	0.999
1:37752946:G:C	N429K	0.999

dbSNP variants (sampled 300 via entrez): RS1000001272 (1:37752210 G>T), RS1000010124 (1:37763347 C>T), RS1000047687 (1:37739328 C>T), RS1000076597 (1:37764700 C>A,G), RS1000097682 (1:37717674 T>C), RS1000248889 (1:37722144 A>C), RS1000301173 (1:37721884 C>T), RS1000357428 (1:37727762 G>A), RS1000363892 (1:37733430 G>A), RS1000398869 (1:37739747 G>A), RS1000549331 (1:37763568 G>A), RS1000659198 (1:37765534 C>G,T), RS1000700732 (1:37732216 C>A), RS1000717810 (1:37738936 G>C), RS1000747282 (1:37728776 A>G)

Disease associations

OMIM: gene MIM:611123 | disease phenotypes: MIM:620283

GenCC curated gene-disease

Disease	Classification	Inheritance
hearing loss, autosomal dominant 88	Limited	Autosomal dominant
postlingual non-syndromic genetic hearing loss	Limited	Autosomal dominant

Mondo (2): hearing loss, autosomal dominant 88 (MONDO:0859527), postlingual non-syndromic genetic hearing loss (MONDO:0016298)

Orphanet (0):

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000365	Hearing impairment
HP:0011462	Young adult onset

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002115_4	Axial length	4.000000e-13
GCST003476_2	Eyebrow thickness	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2363043 (PROTEIN FAMILY)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Type XIII RTKs: Ephrin receptor family

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation, decreases methylation	2
2,2’,3,4’,5,5’,6-heptachlorobiphenyl	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
kojic acid	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
arsenite	increases methylation	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
Aldehydes	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Diazinon	increases methylation	1
Estradiol	increases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Malathion	increases expression	1
Methapyrilene	decreases methylation	1
Thalidomide	decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	decreases methylation	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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