TMTC4

Summary

TMTC4 (transmembrane O-mannosyltransferase targeting cadherins 4, HGNC:25904) is a protein-coding gene on chromosome 13q32.3, encoding Protein O-mannosyl-transferase TMTC4 (Q5T4D3). Transfers mannosyl residues to the hydroxyl group of serine or threonine residues.

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5.

Source: NCBI Gene 84899 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 162 total — 2 pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_032813

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25904
Approved symbol	TMTC4
Name	transmembrane O-mannosyltransferase targeting cadherins 4
Location	13q32.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14624, FLJ22153
Ensembl gene	ENSG00000125247
Ensembl biotype	protein_coding
OMIM	618203
Entrez	84899

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000328767, ENST00000342624, ENST00000376234, ENST00000423847, ENST00000440120, ENST00000462211, ENST00000475272, ENST00000478272, ENST00000480433, ENST00000489713, ENST00000496511, ENST00000861692, ENST00000861693, ENST00000861694, ENST00000861695, ENST00000861696, ENST00000861697, ENST00000861698, ENST00000861699, ENST00000861700, ENST00000861701, ENST00000930118, ENST00000930119, ENST00000930120

RefSeq mRNA: 8 — MANE Select: NM_032813 NM_001079669, NM_001286453, NM_001350571, NM_001350572, NM_001350574, NM_001350576, NM_001350577, NM_032813

CCDS: CCDS41904, CCDS66575, CCDS9497

Canonical transcript exons

ENST00000342624 — 19 exons

Exon	Start	End
ENSE00000998689	100612398	100612510
ENSE00000998690	100614316	100614430
ENSE00000998699	100606358	100606427
ENSE00000998700	100603625	100605142
ENSE00001408776	100670360	100670569
ENSE00001414377	100674744	100674795
ENSE00001621412	100662964	100663180
ENSE00001736054	100656381	100656468
ENSE00003486425	100625535	100625676
ENSE00003491615	100637538	100637702
ENSE00003512464	100664221	100664336
ENSE00003530723	100636532	100636734
ENSE00003538482	100642211	100642311
ENSE00003548406	100625785	100625892
ENSE00003577458	100635024	100635195
ENSE00003589299	100634805	100634936
ENSE00003603844	100637930	100638022
ENSE00003675865	100626071	100626150
ENSE00003786075	100668579	100668794

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 96.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9622 / max 325.6449, expressed in 1499 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138058	4.5583	1495
138056	1.0372	97
138055	0.3667	78

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	96.11	gold quality
corpus callosum	UBERON:0002336	94.75	gold quality
ventricular zone	UBERON:0003053	94.49	gold quality
ganglionic eminence	UBERON:0004023	94.38	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.65	gold quality
epithelial cell of pancreas	CL:0000083	92.07	gold quality
spinal cord	UBERON:0002240	91.94	gold quality
ileal mucosa	UBERON:0000331	91.12	gold quality
cortical plate	UBERON:0005343	90.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.24	gold quality
endothelial cell	CL:0000115	89.90	gold quality
inferior vagus X ganglion	UBERON:0005363	89.77	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.85	gold quality
pancreatic ductal cell	CL:0002079	88.64	gold quality
medial globus pallidus	UBERON:0002477	88.52	gold quality
kidney epithelium	UBERON:0004819	88.18	gold quality
tibialis anterior	UBERON:0001385	88.12	gold quality
globus pallidus	UBERON:0001875	87.58	gold quality
substantia nigra	UBERON:0002038	87.13	gold quality
Ammon’s horn	UBERON:0001954	86.80	gold quality
midbrain	UBERON:0001891	86.76	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.31	gold quality
subthalamic nucleus	UBERON:0001906	86.07	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.79	gold quality
fallopian tube	UBERON:0003889	85.71	gold quality
primary visual cortex	UBERON:0002436	85.46	gold quality
endometrium	UBERON:0001295	85.16	gold quality
pigmented layer of retina	UBERON:0001782	85.05	gold quality
germinal epithelium of ovary	UBERON:0001304	84.81	gold quality
prefrontal cortex	UBERON:0000451	84.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting TMTC4, 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-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4495	99.82	72.08	3080

Literature-anchored findings (GeneRIF, showing 3)

• Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. (PMID:33436046)
• Transmembrane and Tetratricopeptide Repeat Containing 4 Is a Novel Diagnostic Marker for Prostate Cancer with High Specificity and Sensitivity. (PMID:33925440)
• TMTC4 is a hair cell-specific human deafness gene. (PMID:37943620)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmtc4	ENSDARG00000020447
mus_musculus	Tmtc4	ENSMUSG00000041594
rattus_norvegicus	Tmtc4	ENSRNOG00000014310
caenorhabditis_elegans		WBGENE00018175

Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), CFAP70 (ENSG00000156042), TTC8 (ENSG00000165533), TTC7B (ENSG00000165914), TTC16 (ENSG00000167094), TMTC2 (ENSG00000179104), TTC34 (ENSG00000215912)

Protein

Protein identifiers

Protein O-mannosyl-transferase TMTC4 — Q5T4D3 (reviewed: Q5T4D3)

Alternative names: Transmembrane O-mannosyltransferase targeting cadherins 4, Transmembrane and tetratricopeptide repeat-containing 4

All UniProt accessions (4): Q5T4D3, C9K0R2, H7C095, X6RF05

UniProt curated annotations — full annotation on UniProt →

Function. Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.

Subcellular location. Membrane. Endoplasmic reticulum.

Disease relevance. Deafness, autosomal recessive, 122 (DFNB122) [MIM:620714] A form of non-syndromic deafness characterized by adult-onset progressive, 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. The disease may be caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the TMTC family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5T4D3-1	1	yes
Q5T4D3-2	2
Q5T4D3-3	3
Q5T4D3-4	4

RefSeq proteins (8): NP_001073137, NP_001273382, NP_001337500, NP_001337501, NP_001337503, NP_001337505, NP_001337506, NP_116202* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR013618	TMTC_DUF1736	Domain
IPR019734	TPR_rpt	Repeat
IPR052346

Pfam: PF08409, PF13181, PF13431, PF13432

Catalyzed reactions (Rhea), 2 shown:

• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:17377)
• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:53396)

UniProt features (46 total): topological domain 12, transmembrane region 11, repeat 7, sequence variant 5, splice variant 4, glycosylation site 3, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T4D3-F1	91.99	0.80

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 (3): 78, 497, 609

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 165 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_DN, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, ATGCAGT_MIR217, CACCAGC_MIR138, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_NEURON_APOPTOTIC_PROCESS, GOBP_ENDOPLASMIC_RETICULUM_CALCIUM_ION_HOMEOSTASIS, GOBP_SENSORY_PERCEPTION, GOBP_MONOATOMIC_ION_HOMEOSTASIS, MAYBURD_RESPONSE_TO_L663536_DN

GO Biological Process (6): sensory perception of sound (GO:0007605), endoplasmic reticulum unfolded protein response (GO:0030968), positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470), protein O-linked glycosylation via mannose (GO:0035269), outer hair cell apoptotic process (GO:1905584), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): mannosyltransferase activity (GO:0000030), dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169), ATPase binding (GO:0051117), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of mechanical stimulus	1
cellular response to unfolded protein	1
response to endoplasmic reticulum stress	1
intracellular signal transduction	1
endoplasmic reticulum calcium ion homeostasis	1
protein O-linked glycosylation	1
neuron apoptotic process	1
hexosyltransferase activity	1
mannosyltransferase activity	1
protein O-linked glycosylation via mannose	1
catalytic activity, acting on a protein	1
enzyme binding	1
binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMTC4	FRMD4B	Q9Y2L6	519
TMTC4	TMCC3	Q9ULS5	505
TMTC4	MANF	P55145	488
TMTC4	CPNE4	Q96A23	488
TMTC4	PLEKHA8	Q96JA3	464
TMTC4	PIGB	Q92521	460
TMTC4	A0A2R8YEI5	A0A2R8YEI5	458
TMTC4	DPY19L4	Q7Z388	447
TMTC4	POMT2	Q9UKY4	441
TMTC4	CHN2	P52757	431
TMTC4	POMT1	Q9Y6A1	431
TMTC4	SPATA31G1	Q5VYM1	398
TMTC4	TRIP4	Q15650	397
TMTC4	C5orf15	Q8NC54	387
TMTC4	PIGZ	Q86VD9	381

IntAct

45 interactions, top by confidence:

A	B	Type	Score
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
CDH8	ARVCF	psi-mi:“MI:0914”(association)	0.530
SYP	APBB1	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
TMTC4	CLGN	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
RHEX	NOS1AP	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
	DENND11	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
LRRC55	TMEM120B	psi-mi:“MI:0914”(association)	0.350
OSTM1	ILVBL	psi-mi:“MI:0914”(association)	0.350
CDH23	GTPBP10	psi-mi:“MI:0914”(association)	0.350
EDEM2	HACD1	psi-mi:“MI:0914”(association)	0.350
OPALIN	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC6A15	GPR89A	psi-mi:“MI:0914”(association)	0.350
TXNDC15	GET1	psi-mi:“MI:0914”(association)	0.350
GORASP1	RTCA	psi-mi:“MI:0914”(association)	0.350
CD79B	GOLIM4	psi-mi:“MI:0914”(association)	0.350
CCDC40	TRAF5	psi-mi:“MI:0914”(association)	0.350
CLSTN1	NOP56	psi-mi:“MI:0914”(association)	0.350
PCDH12	PCDH17	psi-mi:“MI:0914”(association)	0.350
NRG1	CHST10	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): TMTC4 (Affinity Capture-RNA), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), HERC3 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), OS9 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS)

ESM2 similar proteins: A6NFX1, A6QQL0, D2HKB0, D3ZG27, F1NCD6, F1NJ67, O09014, O70496, O82390, P51798, P51799, Q17QZ3, Q1JQC1, Q32LQ6, Q3T9M1, Q3T9X0, Q3TIT8, Q4PKH3, Q504N2, Q58CV5, Q5F3N0, Q5R8G5, Q5RB09, Q5T4D3, Q5ZIT9, Q5ZKS8, Q66H95, Q68F72, Q69YG0, Q6AY78, Q6PDE8, Q7SY29, Q8BFQ6, Q8BG19, Q8GX78, Q8IVW8, Q8IZD6, Q8N697, Q8NCC5, Q8NEB5

Diamond homologs: Q20144, Q3UV71, Q56A06, Q5T4D3, Q6DCD5, Q6ZXV5, Q7K4B6, Q8BG19, Q8BRH0, Q8IUR5, Q8N394, Q9VF81, Q9VQE9, Q9V3X5, Q6CT48, Q6FM42, P54389

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	6	16.7×	7e-04
homophilic cell-cell adhesion	6	13.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	129
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2921299	NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)	Pathogenic
2921300	NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)	Pathogenic

SpliceAI

3018 predictions. Top by Δscore:

Variant	Effect	Δscore
13:100605140:CAG:C	acceptor_gain	1.0000
13:100606352:TCTTA:T	donor_loss	1.0000
13:100606353:CTTA:C	donor_loss	1.0000
13:100606355:T:TG	donor_loss	1.0000
13:100606356:A:AG	donor_loss	1.0000
13:100606356:AC:A	donor_gain	1.0000
13:100606357:CC:C	donor_gain	1.0000
13:100606425:TTCC:T	acceptor_loss	1.0000
13:100606426:TCCT:T	acceptor_loss	1.0000
13:100606428:CTAA:C	acceptor_loss	1.0000
13:100606429:T:A	acceptor_loss	1.0000
13:100612507:TTAC:T	acceptor_gain	1.0000
13:100612508:TAC:T	acceptor_gain	1.0000
13:100612511:C:CC	acceptor_gain	1.0000
13:100612517:G:C	acceptor_gain	1.0000
13:100612517:G:GC	acceptor_gain	1.0000
13:100612524:A:C	acceptor_gain	1.0000
13:100614311:TGTA:T	donor_loss	1.0000
13:100614312:GTA:G	donor_loss	1.0000
13:100614313:TACC:T	donor_loss	1.0000
13:100614314:A:AT	donor_loss	1.0000
13:100614315:C:CG	donor_loss	1.0000
13:100614426:GCATA:G	acceptor_gain	1.0000
13:100614427:CATA:C	acceptor_gain	1.0000
13:100614427:CATAC:C	acceptor_gain	1.0000
13:100614428:ATA:A	acceptor_gain	1.0000
13:100614429:TA:T	acceptor_gain	1.0000
13:100614431:C:CC	acceptor_gain	1.0000
13:100614437:A:AC	acceptor_gain	1.0000
13:100614437:A:C	acceptor_gain	1.0000

AlphaMissense

4970 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:100614391:A:G	W607R	1.000
13:100614391:A:T	W607R	1.000
13:100625542:C:T	G591E	1.000
13:100625543:C:A	G591W	1.000
13:100625545:A:G	L590P	1.000
13:100625556:A:C	C586W	1.000
13:100625609:C:G	A569P	1.000
13:100625644:C:T	G557D	1.000
13:100625647:A:G	L556P	1.000
13:100625854:C:T	G523E	1.000
13:100625857:A:G	L522P	1.000
13:100625859:A:C	N521K	1.000
13:100625859:A:T	N521K	1.000
13:100626078:C:G	A508P	1.000
13:100634805:C:A	K483N	1.000
13:100634805:C:G	K483N	1.000
13:100642233:T:A	K221I	1.000
13:100664286:C:A	W71C	1.000
13:100664286:C:G	W71C	1.000
13:100605127:C:G	R698P	0.999
13:100605136:A:G	L695P	0.999
13:100606423:G:A	S671F	0.999
13:100612429:G:T	A659E	0.999
13:100612496:C:G	A637P	0.999
13:100614330:A:G	L627P	0.999
13:100614351:G:T	A620D	0.999
13:100614382:C:G	A610P	0.999
13:100614402:G:T	A603D	0.999
13:100614403:C:G	A603P	0.999
13:100625536:A:G	L593P	0.999

dbSNP variants (sampled 300 via entrez): RS1000019729 (13:100670000 G>A), RS1000037176 (13:100655091 G>A), RS1000045000 (13:100629331 T>C), RS1000099012 (13:100623272 G>A), RS1000130552 (13:100643420 T>C), RS1000158674 (13:100664047 G>A), RS1000205335 (13:100665559 C>G), RS1000224872 (13:100618075 G>A), RS1000243724 (13:100626363 G>A), RS1000317076 (13:100653492 C>T), RS1000319670 (13:100626750 A>G), RS1000350340 (13:100615482 G>T), RS1000377922 (13:100659722 T>G), RS1000415319 (13:100641782 C>T), RS1000428935 (13:100660000 A>T)

Disease associations

OMIM: gene MIM:618203 | disease phenotypes: MIM:620714, MIM:185480

GenCC curated gene-disease

Mondo (2): hearing loss, autosomal recessive 122 (MONDO:0958228), Worster-Drought syndrome (MONDO:0008503)

Orphanet (1): Worster-Drought syndrome (Orphanet:3465)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0003581	Adult onset

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009391_161	Metabolite levels	5.000000e-06
GCST010002_194	Refractive error	2.000000e-76

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010487	glutamate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536747	Worster Drought syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, decreases methylation, affects cotreatment	6
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, increases abundance	2
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	decreases methylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	decreases expression, affects binding	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1

Clinical trials (associated diseases)

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