MPZL2

Summary

MPZL2 (myelin protein zero like 2, HGNC:3496) is a protein-coding gene on chromosome 11q23.3, encoding Myelin protein zero-like protein 2 (O60487). Mediates homophilic cell-cell adhesion.

Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 10205 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hearing loss, autosomal recessive 111 (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 74 total — 4 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 4
• MANE Select transcript: NM_005797

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3496
Approved symbol	MPZL2
Name	myelin protein zero like 2
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	EVA
Ensembl gene	ENSG00000149573
Ensembl biotype	protein_coding
OMIM	604873
Entrez	10205

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000278937, ENST00000438295, ENST00000525647, ENST00000527282, ENST00000528554, ENST00000529376, ENST00000534175, ENST00000887115, ENST00000887116, ENST00000946099

RefSeq mRNA: 2 — MANE Select: NM_005797 NM_005797, NM_144765

CCDS: CCDS8393

Canonical transcript exons

ENST00000278937 — 6 exons

Exon	Start	End
ENSE00001318078	118253416	118255233
ENSE00002155051	118264096	118264297
ENSE00003467285	118262438	118262648
ENSE00003529254	118260054	118260201
ENSE00003547811	118257238	118257313
ENSE00003653516	118262931	118263097

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 99.38.

FANTOM5 (CAGE): breadth broad, TPM avg 9.8445 / max 503.7447, expressed in 739 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122594	8.1644	697
122593	0.4418	212
122595	0.3708	220
122596	0.3457	188
122592	0.2848	142
122591	0.2369	108

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	99.38	gold quality
gingiva	UBERON:0001828	99.26	gold quality
esophagus mucosa	UBERON:0002469	98.84	gold quality
lower esophagus mucosa	UBERON:0035834	98.78	gold quality
esophagus squamous epithelium	UBERON:0006920	98.30	gold quality
squamous epithelium	UBERON:0006914	98.28	gold quality
palpebral conjunctiva	UBERON:0001812	97.60	gold quality
vagina	UBERON:0000996	97.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.55	gold quality
oral cavity	UBERON:0000167	97.53	gold quality
epithelium of esophagus	UBERON:0001976	97.12	gold quality
cervix squamous epithelium	UBERON:0006922	97.07	gold quality
cervix epithelium	UBERON:0004801	96.49	gold quality
mouth mucosa	UBERON:0003729	96.37	gold quality
nasal cavity mucosa	UBERON:0001826	96.14	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.14	gold quality
minor salivary gland	UBERON:0001830	96.10	gold quality
epithelium of nasopharynx	UBERON:0001951	95.94	gold quality
penis	UBERON:0000989	95.92	gold quality
nasopharynx	UBERON:0001728	95.92	gold quality
pharyngeal mucosa	UBERON:0000355	95.85	gold quality
tongue squamous epithelium	UBERON:0006919	95.82	gold quality
mucosa of urinary bladder	UBERON:0001259	95.45	gold quality
gall bladder	UBERON:0002110	95.17	gold quality
rectum	UBERON:0001052	95.08	gold quality
seminal vesicle	UBERON:0000998	94.97	gold quality
oviduct epithelium	UBERON:0004804	94.97	gold quality
pericardium	UBERON:0002407	94.80	gold quality
saliva-secreting gland	UBERON:0001044	94.20	gold quality
right uterine tube	UBERON:0001302	94.13	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	232.65
E-GEOD-135922	yes	44.71
E-MTAB-6678	yes	12.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

123 targeting MPZL2, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-145-5P	99.92	71.13	1836

Literature-anchored findings (GeneRIF, showing 10)

• EVA is expressed in human choroid plexus epithelial cells and CD4 T lymphocytes and regulates CD4+ T lymphocyte adhesion to human choroid plexus epithelial cells in vitro. These data suggest a novel mechanism to regulate CNS immune surveillance. (PMID:21440040)
• Findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-kappaB activation in GIC. (PMID:26677976)
• CLCA2 links junctional adhesion molecule EVA1, to cytosolic signaling proteins that modulate proliferation and differentiation. (PMID:26930581)
• We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss. (PMID:29982980)
• Epithelial V-like antigen 1 (EVA1) expression is increased in hepatocellular carcinoma (HCC) and is associated with a poor prognosis and recurrence in HCC patients. Overexpression of EVA1 promotes cell growth, invasion and migration in vitro. EVA1 is able to upregulate the expression of genes in the ERBB3-PI3K pathway. An increased level of AKT phosphorylation is detected in HCC cells after EVA1 overexpression. (PMID:31997489)
• A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. (PMID:33234333)
• Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation. (PMID:35249471)
• MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients. (PMID:37390746)
• Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111. (PMID:38197511)
• MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. (PMID:38254107)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpzl2b	ENSDARG00000027345
mus_musculus	Mpzl2	ENSMUSG00000032092
rattus_norvegicus	Mpzl2	ENSRNOG00000016085

Paralogs (6): SCN2B (ENSG00000149575), MPZ (ENSG00000158887), MPZL3 (ENSG00000160588), JAML (ENSG00000160593), SCN4B (ENSG00000177098), MPZL1 (ENSG00000197965)

Protein

Protein identifiers

Myelin protein zero-like protein 2 — O60487 (reviewed: O60487)

Alternative names: Epithelial V-like antigen 1

All UniProt accessions (1): O60487

UniProt curated annotations — full annotation on UniProt →

Function. Mediates homophilic cell-cell adhesion.

Subcellular location. Membrane.

Tissue specificity. Widely expressed. In fetal tissues, highest expression in the inner ear. In adult tissues, highest levels in thymus and lung.

Disease relevance. Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145] A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness 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. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the myelin P0 protein family.

RefSeq proteins (2): NP_005788, NP_658911 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000920	Myelin_P0-rel	Family
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR029863	MPZL2_Ig-like_dom	Domain
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07686

UniProt features (14 total): sequence variant 5, topological domain 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60487-F1	89.54	0.72

Functional residue map

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

Disulfide bonds (1): 47–123

Glycosylation sites (2): 39, 118

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 230 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, JAEGER_METASTASIS_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, MORF_RAD51L3, GOBP_CELL_CELL_ADHESION, RICKMAN_METASTASIS_DN, MODULE_379, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGANTCA_AP1_C, AIGNER_ZEB1_TARGETS, GFI1_01, BASAKI_YBX1_TARGETS_DN, YAMAZAKI_TCEB3_TARGETS_UP, MODULE_242

GO Biological Process (4): homophilic cell-cell adhesion (GO:0007156), anatomical structure morphogenesis (GO:0009653), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	1
developmental process	1
anatomical structure development	1
cell adhesion	1
cellular process	1
binding	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPZL2	USE1	Q9NZ43	633
MPZL2	EVA1A	Q9H8M9	610
MPZL2	TMEM26	Q6ZUK4	505
MPZL2	RAG2	P55895	490
MPZL2	ROBO2	Q9HCK4	475
MPZL2	ROBO1	Q9Y6N7	474
MPZL2	CCL18	P55774	445
MPZL2	OCLN	Q16625	435
MPZL2	GPN3	Q9UHW5	429
MPZL2	SERINC2	Q96SA4	418
MPZL2	MOSPD2	Q8NHP6	417
MPZL2	MRPS18B	Q9Y676	412
MPZL2	CCL3	P10147	411
MPZL2	YBX3	P16989	403
MPZL2	EVA1C	P58658	400

IntAct

16 interactions, top by confidence:

A	B	Type	Score
MPZL2	MPZL3	psi-mi:“MI:0915”(physical association)	0.670
MPZL2	MPZL3	psi-mi:“MI:0407”(direct interaction)	0.670
MPZL3	MPZL2	psi-mi:“MI:0407”(direct interaction)	0.670
MFAP3L	MPZL2	psi-mi:“MI:0915”(physical association)	0.400
MPZL2	ATF4	psi-mi:“MI:0915”(physical association)	0.370
MEST	MPZL2	psi-mi:“MI:0915”(physical association)	0.370
	NPC1	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-DRB3	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-DRB1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
TSPAN17	MGST3	psi-mi:“MI:0914”(association)	0.350
ADORA2B	SCAMP2	psi-mi:“MI:0914”(association)	0.350
SPACA1	MPZL2	psi-mi:“MI:0914”(association)	0.350

BioGRID (21): AP1M1 (Affinity Capture-MS), OCLN (Affinity Capture-MS), MPZL2 (Affinity Capture-Western), MPZL2 (Affinity Capture-Western), MPZL2 (Affinity Capture-Western), MPZL2 (Affinity Capture-Western), MPZL2 (Proximity Label-MS), MPZL2 (Proximity Label-MS), MPZL2 (Proximity Label-MS), MPZL2 (Proximity Label-MS), MPZL2 (Proximity Label-MS), MPZL2 (Proximity Label-MS), MPZL2 (Affinity Capture-MS), MPZL2 (Affinity Capture-MS), MPZL2 (Affinity Capture-MS)

ESM2 similar proteins: A0JM41, A2VD98, A6QQC6, A8MVW5, B0CLX4, B6ZK76, B6ZK77, O60487, O70255, O88324, O88775, O95976, P01832, P03228, P06907, P08920, P08921, P09619, P0C6B7, P0C6N0, P0CW72, P10522, P20938, P21995, P25189, P27573, P37301, P37998, P59823, P59824, P86176, Q01151, Q4VAH7, Q5EAB0, Q5R804, Q640U3, Q6PCB8, Q6WEB5, Q80UL9, Q86XK7

Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, Q29RR6, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q5EAB0, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q7M729, Q7M730, Q86XK7, Q8AVM3, Q8IWT1, Q9D2J4, Q9PWR4, Q08E08, P78310, P97792, Q56A07, Q5R764, Q864L3, Q86YT9, Q8WMV3, Q91664

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	10
Uncertain significance	36
Likely benign	7
Benign	6

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
2445648	NM_005797.4(MPZL2):c.161del (p.Pro54fs)	Pathogenic
3601281	NM_005797.4(MPZL2):c.500dup (p.Ile168fs)	Pathogenic
585269	NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	Pathogenic
689320	NM_005797.4(MPZL2):c.463del (p.Ala155fs)	Pathogenic
1301681	NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)	Likely pathogenic
1321751	NM_005797.4(MPZL2):c.340C>T (p.Gln114Ter)	Likely pathogenic
1324734	NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)	Likely pathogenic
1803695	NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)	Likely pathogenic
2628069	NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	Likely pathogenic
3032146	NM_005797.4(MPZL2):c.290G>A (p.Trp97Ter)	Likely pathogenic
3064681	NM_005797.4(MPZL2):c.417del (p.Leu140fs)	Likely pathogenic
4849426	NM_005797.4(MPZL2):c.584+1G>A	Likely pathogenic
563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	Likely pathogenic
993009	NM_005797.4(MPZL2):c.226-1G>A	Likely pathogenic

SpliceAI

891 predictions. Top by Δscore:

Variant	Effect	Δscore
11:118260052:A:AC	donor_gain	1.0000
11:118260053:C:CC	donor_gain	1.0000
11:118262927:TTA:T	donor_loss	1.0000
11:118262928:TA:T	donor_loss	1.0000
11:118262928:TACAA:T	donor_gain	1.0000
11:118262929:A:AC	donor_gain	1.0000
11:118262929:ACAAA:A	donor_gain	1.0000
11:118262930:C:CA	donor_gain	1.0000
11:118262930:CA:C	donor_gain	1.0000
11:118262930:CAA:C	donor_gain	1.0000
11:118262930:CAAA:C	donor_gain	1.0000
11:118262930:CAAAC:C	donor_gain	1.0000
11:118263093:AAGAG:A	acceptor_gain	1.0000
11:118263094:AGAG:A	acceptor_gain	1.0000
11:118263095:GAG:G	acceptor_gain	1.0000
11:118263096:AG:A	acceptor_gain	1.0000
11:118263096:AGC:A	acceptor_loss	1.0000
11:118263098:C:CC	acceptor_gain	1.0000
11:118263101:CAA:C	acceptor_gain	1.0000
11:118263103:A:AC	acceptor_gain	1.0000
11:118263103:A:C	acceptor_gain	1.0000
11:118264091:CTTA:C	donor_loss	1.0000
11:118264092:TTACC:T	donor_loss	1.0000
11:118264093:TACC:T	donor_loss	1.0000
11:118264094:ACCT:A	donor_loss	1.0000
11:118264095:C:CA	donor_loss	1.0000
11:118260032:T:A	donor_gain	0.9900
11:118260053:CGA:C	donor_gain	0.9900
11:118260063:TC:T	donor_gain	0.9900
11:118260064:C:CT	donor_gain	0.9900

AlphaMissense

1402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:118262506:C:G	C123S	0.999
11:118262507:A:T	C123S	0.999
11:118262513:A:C	Y121D	0.999
11:118262519:C:A	G119W	0.999
11:118262967:C:A	W63C	0.999
11:118262967:C:G	W63C	0.999
11:118262969:A:G	W63R	0.999
11:118262969:A:T	W63R	0.999
11:118263016:C:G	C47S	0.999
11:118263017:A:T	C47S	0.999
11:118262505:G:C	C123W	0.998
11:118262506:C:T	C123Y	0.998
11:118262507:A:G	C123R	0.998
11:118262518:C:A	G119V	0.998
11:118262518:C:T	G119E	0.998
11:118262602:A:C	F91C	0.998
11:118263015:G:C	C47W	0.998
11:118263017:A:G	C47R	0.998
11:118263022:A:G	L45S	0.998
11:118262554:G:A	S107F	0.997
11:118262555:A:G	S107P	0.997
11:118262583:C:A	W97C	0.997
11:118262583:C:G	W97C	0.997
11:118262593:C:G	R94P	0.997
11:118262602:A:G	F91S	0.997
11:118262968:C:G	W63S	0.997
11:118263009:G:C	F49L	0.997
11:118263009:G:T	F49L	0.997
11:118263011:A:G	F49L	0.997
11:118262524:T:A	D117V	0.996

dbSNP variants (sampled 300 via entrez): RS1000094124 (11:118259467 T>C), RS1000149211 (11:118255684 C>G), RS1000182261 (11:118255442 A>G), RS1001328969 (11:118260491 G>A), RS1001431019 (11:118252947 A>C,G), RS1001700996 (11:118256197 A>T), RS1001787442 (11:118262969 AG>A), RS1001880204 (11:118253435 T>C,G), RS1003463739 (11:118264359 C>T), RS1003618007 (11:118262054 T>C), RS1003781977 (11:118257718 T>C), RS1003820787 (11:118254793 A>G), RS1004948054 (11:118259054 A>T), RS1005215623 (11:118258141 A>G), RS1005262301 (11:118254948 G>C)

Disease associations

OMIM: gene MIM:604873 | disease phenotypes: MIM:618145, MIM:220290, MIM:607197

GenCC curated gene-disease

Disease	Classification	Inheritance
hearing loss, autosomal recessive 111	Definitive	Autosomal recessive
nonsyndromic genetic hearing loss	Strong	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Strong	AR

Mondo (3): hearing loss, autosomal recessive 111 (MONDO:0029142), hearing loss, autosomal recessive (MONDO:0019588), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (2): Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000408	Progressive sensorineural hearing impairment
HP:0003621	Juvenile onset
HP:0011463	Childhood onset

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004744_45	Lung adenocarcinoma	3.000000e-10
GCST004748_20	Lung cancer	1.000000e-08
GCST004749_30	Lung cancer in ever smokers	4.000000e-07
GCST007560_2	Sleep duration (long sleep)	5.000000e-12
GCST011656_15	Lung cancer	2.000000e-07
GCST012442_21	Age-related hearing impairment	1.000000e-08
GCST012442_51	Age-related hearing impairment	1.000000e-08
GCST90002403_210	Red blood cell count	6.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004305	erythrocyte count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C564609	Deafness, Autosomal Recessive (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	4
sodium arsenite	decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
sotorasib	affects cotreatment, increases expression	1
urushiol	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenate	increases abundance, decreases expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
ciglitazone	increases expression, affects binding	1
isobutyl alcohol	increases expression, affects cotreatment, increases abundance	1
phenethyl isothiocyanate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	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
3,4,5,4’-tetramethoxystilbene	affects expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
NSC 689534	decreases expression, increases expression, affects binding	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations