SLC44A4

Summary

SLC44A4 (solute carrier family 44 member 4, HGNC:13941) is a protein-coding gene on chromosome 6p21.33, encoding Choline transporter-like protein 4 (Q53GD3). Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury.

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 80736 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant nonsyndromic hearing loss (Supportive, GenCC) — +2 more curated relationships
• GWAS associations: 95
• Clinical variants (ClinVar): 310 total
• Phenotypes (HPO): 5
• Druggable target: yes
• MANE Select transcript: NM_025257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13941
Approved symbol	SLC44A4
Name	solute carrier family 44 member 4
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	NG22, CTL4, FLJ14491, TPPT, DFNA72
Ensembl gene	ENSG00000204385
Ensembl biotype	protein_coding
OMIM	606107
Entrez	80736

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000229729, ENST00000375562, ENST00000414427, ENST00000462671, ENST00000465707, ENST00000475563, ENST00000479777, ENST00000487680, ENST00000544672, ENST00000882849, ENST00000882850, ENST00000882851, ENST00000882852, ENST00000882853, ENST00000925858

RefSeq mRNA: 3 — MANE Select: NM_025257 NM_001178044, NM_001178045, NM_025257

CCDS: CCDS4724, CCDS54989, CCDS54990

Canonical transcript exons

ENST00000229729 — 21 exons

Exon	Start	End
ENSE00001606011	31865315	31865388
ENSE00001677718	31870812	31871047
ENSE00001692990	31865010	31865080
ENSE00001693736	31874460	31874520
ENSE00001713563	31871314	31871397
ENSE00001715971	31864816	31864910
ENSE00001738059	31864652	31864736
ENSE00001757866	31874721	31874846
ENSE00001764356	31871474	31871561
ENSE00001790019	31865498	31865601
ENSE00001790950	31865873	31866126
ENSE00001836503	31863192	31863748
ENSE00001950132	31878941	31878997
ENSE00003509216	31869545	31869637
ENSE00003528431	31874929	31875028
ENSE00003566002	31869155	31869257
ENSE00003575969	31876056	31876129
ENSE00003615460	31870603	31870702
ENSE00003662702	31877034	31877082
ENSE00003667111	31875852	31875930
ENSE00003791305	31865690	31865784

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9178 / max 152.2897, expressed in 113 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72854	0.8541	108
72853	0.0386	16
203949	0.0251	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.13	gold quality
right uterine tube	UBERON:0001302	98.97	gold quality
rectum	UBERON:0001052	98.95	gold quality
duodenum	UBERON:0002114	98.61	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.24	gold quality
gall bladder	UBERON:0002110	97.81	gold quality
prostate gland	UBERON:0002367	96.54	gold quality
islet of Langerhans	UBERON:0000006	92.68	gold quality
adult mammalian kidney	UBERON:0000082	92.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.25	gold quality
transverse colon	UBERON:0001157	91.82	gold quality
metanephros cortex	UBERON:0010533	91.60	gold quality
small intestine	UBERON:0002108	91.33	gold quality
vermiform appendix	UBERON:0001154	90.61	gold quality
fallopian tube	UBERON:0003889	90.20	gold quality
colonic epithelium	UBERON:0000397	89.77	gold quality
pituitary gland	UBERON:0000007	89.19	gold quality
minor salivary gland	UBERON:0001830	88.92	gold quality
adenohypophysis	UBERON:0002196	88.71	gold quality
stomach	UBERON:0000945	88.40	gold quality
body of stomach	UBERON:0001161	88.31	gold quality
mucosa of stomach	UBERON:0001199	88.22	gold quality
saliva-secreting gland	UBERON:0001044	87.95	gold quality
kidney	UBERON:0002113	87.92	gold quality
right lung	UBERON:0002167	87.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.76	gold quality
right adrenal gland cortex	UBERON:0035827	84.46	gold quality
pancreas	UBERON:0001264	83.73	gold quality
right adrenal gland	UBERON:0001233	83.53	gold quality
intestine	UBERON:0000160	83.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	50.17
E-HCAD-1	yes	27.44
E-MTAB-8410	yes	12.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

15 targeting SLC44A4, 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-4682	100.00	68.89	1258
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-139-3P	95.24	63.10	316
HSA-MIR-6879-3P	93.93	64.00	759
HSA-MIR-4638-5P	92.31	65.23	86

Literature-anchored findings (GeneRIF, showing 11)

• These results suggest that eltrombopag can partially modulate some immune responses by TGFbeta(1) and sCTLA-4, but it does not induce immune tolerance by 24 weeks after treatment. (PMID:22789125)
• These results indicate that CTL4 mediates ACh synthesis in non-neuronal cell lines and presents a mechanism to target non-neuronal ACh synthesis without affecting neuronal ACh synthesis. (PMID:23651124)
• Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter. (PMID:24379411)
• Characterization of the SLC44A4 promoter and report the importance of both ELF3 and CREB-1 transcription factors in the maintenance of basal promoter activity in colonic epithelial cells. (PMID:25715703)
• Critical genetic polymorphisms in SLC44A4, an ulcerative colitis susceptibility gene, have been identified in a genetic association study in North Indians. (PMID:26741288)
• The results also provide an indirect support for a membrane topology for hTPPT with 10 transmembrane domains as predicted by the TMHMM transmembrane helixes prediction program. (PMID:26828122)
• epigenetic mechanisms (histone modifications) play a role in determining the tissue-specific pattern of expression of the TPPT along the GI tract. (PMID:26901654)
• These results suggest (i) apparent allelic heterogeneity in CFB and genetic heterogeneity in SLC44A4 across different ethnic groups; (ii) shared ulcerative colitis genetic etiological factors among Asians (PMID:27759029)
• Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. (PMID:28013291)
• We found that rs2736428 was significantly associated with UC risk (allelic p = 0.0004), and the CT and TT genotypes of rs2736428 had a higher distribution compared with the CC genotypes (genotypic p = 0.001), suggesting that the T allele was a risk allele (odds ratio = 1.45, 95% confidence interval = 1.18-1.78). Moreover, one haplotype block that included rs2736428 was found to be strongly associated with UC risk as well (PMID:28753073)
• Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology. (PMID:38713615)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc44a4	ENSDARG00000102381
mus_musculus	Slc44a4	ENSMUSG00000007034
rattus_norvegicus	Slc44a4	ENSRNOG00000000878

Paralogs (4): SLC44A1 (ENSG00000070214), SLC44A2 (ENSG00000129353), SLC44A5 (ENSG00000137968), SLC44A3 (ENSG00000143036)

Protein

Protein identifiers

Choline transporter-like protein 4 — Q53GD3 (reviewed: Q53GD3)

Alternative names: Solute carrier family 44 member 4, Thiamine pyrophosphate transporter 1

All UniProt accessions (4): Q53GD3, A0A140VJH4, A0A1U9X8K7, H0Y5I3

UniProt curated annotations — full annotation on UniProt →

Function. Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury. Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis. Also has thiamine pyrophosphate transporter activity.

Subcellular location. Membrane. Apical cell membrane.

Tissue specificity. Highly expressed in colon, also detected in prostate, trachea and lung. Isoform 3 is also expressed in colon but a lower levels. Expressed in colon at low levels.

Post-translational modifications. N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-393 is required for a proper thiamine pyrophosphate uptake.

Disease relevance. An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3’-UTR of NEU has been detected in two patients affected by sialidosis. Deafness, autosomal dominant, 72 (DFNA72) [MIM:617606] A form of non-syndromic sensorineural hearing loss. 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. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CTL (choline transporter-like) family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q53GD3-1	1	yes
Q53GD3-2	2
Q53GD3-3	3
Q53GD3-4	4

RefSeq proteins (3): NP_001171515, NP_001171516, NP_079533* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007603	Choline_transptr-like	Family

Pfam: PF04515

Catalyzed reactions (Rhea), 2 shown:

• choline(out) + n H(+)(in) = choline(in) + n H(+)(out) (RHEA:75463)
• thiamine diphosphate(out) = thiamine diphosphate(in) (RHEA:75471)

UniProt features (55 total): topological domain 11, transmembrane region 10, sequence variant 10, mutagenesis site 8, glycosylation site 7, sequence conflict 4, splice variant 3, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53GD3-F1	83.79	0.46

Functional residue map

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

Catalytic / active sites (1): 308 (breakpoint for translocation with neu1)

Glycosylation sites (7): 69, 155, 197, 298, 393, 405, 416

Mutagenesis-validated functional residues (8):

Position	Phenotype
29	no effect on glycosylation.
69	decreases glycosylation levels. decreases thiamine pyrophosphate uptake.
155	decreases glycosylation levels. decreases thiamine pyrophosphate uptake.
197	decreases glycosylation levels. no effect on thiamine pyrophosphate uptake.
298	no effect on glycosylation.
393	decreases glycosylation levels. decreases thiamine pyrophosphate uptake.
409	no effect on glycosylation.
416	decreases glycosylation levels. no effect on thiamine pyrophosphate uptake.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1483191	Synthesis of PC
R-HSA-9958517	SLC-mediated bile acid transport
R-HSA-425366

MSigDB gene sets: 188 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, RACCACAR_AML_Q6, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CELL_CELL_SIGNALING, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS

GO Biological Process (9): phosphatidylcholine biosynthetic process (GO:0006656), acetylcholine biosynthetic process (GO:0008292), choline transport (GO:0015871), positive regulation of cell growth (GO:0030307), thiamine pyrophosphate transmembrane transport (GO:0030974), otolith formation (GO:0032475), neuromast hair cell development (GO:0035675), transmembrane transport (GO:0055085), acetylcholine secretion (GO:0061526)

GO Molecular Function (4): choline transmembrane transporter activity (GO:0015220), antiporter activity (GO:0015297), thiamine pyrophosphate transmembrane transporter activity (GO:0090422), transmembrane transporter activity (GO:0022857)

GO Cellular Component (4): plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
SLC-mediated transport of organic anions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylcholine metabolic process	1
glycerophospholipid biosynthetic process	1
acetylcholine metabolic process	1
biosynthetic process	1
nitrogen compound transport	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
positive regulation of cellular process	1
quaternary ammonium group transport	1
organophosphate ester transport	1
thiamine transmembrane transport	1
otolith morphogenesis	1
anatomical structure formation involved in morphogenesis	1
neuron development	1
neuromast hair cell differentiation	1
transport	1
cellular process	1
acetylcholine transport	1
signal release	1
choline transport	1
transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
thiamine transmembrane transporter activity	1
organophosphate ester transmembrane transporter activity	1
quaternary ammonium group transmembrane transporter activity	1
thiamine pyrophosphate transmembrane transport	1
transporter activity	1
transmembrane transport	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

834 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC44A4	CD80	P33681	927
SLC44A4	CD86	P42081	826
SLC44A4	CTLA4	P16410	586
SLC44A4	CD274	Q9NZQ7	542
SLC44A4	CD28	P10747	522
SLC44A4	IL10	P22301	482
SLC44A4	SLC23A1	Q9UHI7	458
SLC44A4	PDCD1	Q15116	435
SLC44A4	SLC5A7	Q9GZV3	428
SLC44A4	ACP3	P15309	422
SLC44A4	SLC52A1	Q9NWF4	407
SLC44A4	SLC6A20	Q9NP91	406
SLC44A4	SLC22A1	O15245	405
SLC44A4	SLC22A2	O15244	402
SLC44A4	CD8A	P01732	392

IntAct

4 interactions, top by confidence:

A	B	Type	Score
SLC44A4	RRBP1	psi-mi:“MI:0915”(physical association)	0.400
SLC44A4	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
SLC44A4	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (54): RRBP1 (Proximity Label-MS), SLC44A4 (Proximity Label-MS), SLC44A4 (Affinity Capture-RNA), AAAS (Affinity Capture-MS), AGK (Affinity Capture-MS), ARL6IP6 (Affinity Capture-MS), BCAP31 (Affinity Capture-MS), BCKDHA (Affinity Capture-MS), BCLAF1 (Affinity Capture-MS), CANX (Affinity Capture-MS), CLGN (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), CLSTN1 (Affinity Capture-MS), DCAKD (Affinity Capture-MS), DHX32 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVX0, A2ADU8, A2ADU9, A2Y075, A6QP72, O82232, P34655, P55017, P55018, P56508, P59158, P68178, P68179, Q0DKW8, Q0VBW2, Q22701, Q3ZCB2, Q53GD3, Q54RZ2, Q5REK4, Q5RJI2, Q5TYP8, Q66I68, Q6DK93, Q6DK99, Q6E1M8, Q6E213, Q6GMG8, Q6GZQ0, Q6NUC1, Q6P828, Q6PCW6, Q6ZPD8, Q8H5T6, Q8NG11, Q8QZY6, Q8S5M8, Q91VA1, Q9ARD5, Q9BYD5

Diamond homologs: A3KMY4, A5D7H3, A5PF08, A5PMW0, A8XKF2, B0JZD0, B0S5A7, B4F795, B5X3W7, F1S584, Q20026, Q53GD3, Q54I48, Q5R5L9, Q5RJI2, Q6GN42, Q6IP59, Q6MG71, Q7PRJ0, Q7SYC9, Q7T2B0, Q810F1, Q8BY89, Q8IWA5, Q8NCS7, Q91VA1, Q95JW2, Q9VAP3, Q4I8E9, Q6C938, Q6IR74, Q869R1, Q8N4M1, Q8WWI5, A5PK40, Q6AY92, Q54IJ2, Q9I9B9, Q12412, Q5AB93

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	153
Likely benign	84
Benign	52

Top pathogenic / likely-pathogenic (0)

SpliceAI

3212 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31863746:CCA:C	acceptor_gain	1.0000
6:31863747:CA:C	acceptor_gain	1.0000
6:31863747:CAC:C	acceptor_gain	1.0000
6:31863749:C:CC	acceptor_gain	1.0000
6:31863755:C:CT	acceptor_gain	1.0000
6:31864645:CACT:C	donor_loss	1.0000
6:31864648:TCA:T	donor_loss	1.0000
6:31864650:A:AC	donor_gain	1.0000
6:31864650:ACGGA:A	donor_loss	1.0000
6:31864651:C:CA	donor_gain	1.0000
6:31864651:CG:C	donor_gain	1.0000
6:31864651:CGG:C	donor_gain	1.0000
6:31864651:CGGAA:C	donor_gain	1.0000
6:31864737:C:CC	acceptor_gain	1.0000
6:31864908:CCC:C	acceptor_gain	1.0000
6:31864909:CCC:C	acceptor_gain	1.0000
6:31865008:A:AC	donor_gain	1.0000
6:31865008:AC:A	donor_gain	1.0000
6:31865009:C:CC	donor_gain	1.0000
6:31865009:CC:C	donor_gain	1.0000
6:31865009:CCCA:C	donor_gain	1.0000
6:31865022:C:CT	donor_gain	1.0000
6:31865080:CCTG:C	acceptor_gain	1.0000
6:31865685:CTCA:C	donor_loss	1.0000
6:31865686:TCAC:T	donor_loss	1.0000
6:31865687:CA:C	donor_loss	1.0000
6:31865689:C:CA	donor_loss	1.0000
6:31865689:CCT:C	donor_gain	1.0000
6:31865782:TAA:T	acceptor_gain	1.0000
6:31865783:AA:A	acceptor_gain	1.0000

AlphaMissense

4612 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31866006:A:G	W452R	0.998
6:31866006:A:T	W452R	0.998
6:31865375:C:A	G567V	0.997
6:31865376:C:A	G567W	0.997
6:31871020:G:C	S243R	0.997
6:31871020:G:T	S243R	0.997
6:31871022:T:G	S243R	0.997
6:31871549:C:G	C181S	0.997
6:31871550:A:G	C181R	0.997
6:31871550:A:T	C181S	0.997
6:31874489:C:G	C167S	0.997
6:31874490:A:T	C167S	0.997
6:31874842:C:G	C116S	0.997
6:31874843:A:T	C116S	0.997
6:31875870:C:G	C75S	0.997
6:31875871:A:T	C75S	0.997
6:31863743:C:G	D673H	0.996
6:31864656:G:C	C669W	0.996
6:31865327:C:G	R583P	0.996
6:31865354:G:T	A574D	0.996
6:31871548:G:C	C181W	0.996
6:31874746:C:G	C148S	0.996
6:31874747:A:T	C148S	0.996
6:31874830:C:G	C120S	0.996
6:31874831:A:T	C120S	0.996
6:31874843:A:G	C116R	0.996
6:31865522:G:C	F554L	0.995
6:31865522:G:T	F554L	0.995
6:31865524:A:G	F554L	0.995
6:31865758:C:T	G505E	0.995

dbSNP variants (sampled 300 via entrez): RS1000319314 (6:31874495 T>G), RS1000726922 (6:31867389 G>A,C), RS1001396504 (6:31878615 C>T), RS1001764013 (6:31866719 C>A,T), RS1001968022 (6:31876330 G>A), RS1002396919 (6:31869273 G>A,T), RS1002440023 (6:31879118 C>G,T), RS1002638539 (6:31879425 G>C), RS1002828961 (6:31869113 A>C), RS1002854581 (6:31872325 T>G), RS1002928104 (6:31871951 C>G,T), RS1002963077 (6:31879288 G>A), RS1003074161 (6:31872350 C>T), RS1003189303 (6:31864557 G>T), RS1003193372 (6:31870676 T>A,C)

Disease associations

OMIM: gene MIM:606107 | disease phenotypes: MIM:617606

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant nonsyndromic hearing loss	Supportive	Autosomal dominant
nonsyndromic genetic hearing loss	Limited	Autosomal dominant
hearing loss, autosomal dominant 72	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Limited	AD

Mondo (3): hearing loss, autosomal dominant 72 (MONDO:0033259), nonsyndromic genetic hearing loss (MONDO:0019497), autosomal dominant nonsyndromic hearing loss (MONDO:0019587)

Orphanet (1): Rare non-syndromic genetic deafness (Orphanet:87884)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000360	Tinnitus
HP:0000407	Sensorineural hearing impairment
HP:0003676	Progressive
HP:0011462	Young adult onset

GWAS associations

95 associations (top):

Study	Trait	p-value
GCST000669_2	Telomere length	3.000000e-06
GCST002453_3	Ulcerative colitis	5.000000e-14
GCST002766_3	Exudative age-related macular degeneration	1.000000e-11
GCST003156_26	Systemic lupus erythematosus	1.000000e-12
GCST003678_16	C-reactive protein levels or total cholesterol levels (pleiotropy)	2.000000e-08
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_118	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_162	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_173	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_224	Autism spectrum disorder or schizophrenia	5.000000e-10
GCST004521_227	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST004571_7	Iron status biomarkers (total iron binding capacity)	8.000000e-07
GCST004572_17	Iron status biomarkers (transferrin saturation)	8.000000e-07
GCST004748_111	Lung cancer	8.000000e-19
GCST004749_6	Lung cancer in ever smokers	3.000000e-14
GCST004861_81	Itch intensity from mosquito bite	4.000000e-20
GCST004864_37	Perceived unattractiveness to mosquitoes	4.000000e-07

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004574	total cholesterol measurement
EFO:0006334	total iron binding capacity
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008380	perceived unattractiveness to mosquitos measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0009930	Calcium channel blocker use measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0004314	forced expiratory volume
EFO:0010418	triacylglycerol 52:6 measurement
EFO:0006782	cups of coffee per day measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference
EFO:0004531	urate measurement
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3713014 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — SLC44 choline transporter-like family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
chloropicrin	increases expression	2
Air Pollutants	increases abundance, increases expression	2
Hydrogen Peroxide	affects expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects methylation	1
terbufos	increases methylation	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
licochalcone B	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Asbestos	affects expression	1
Cadmium	decreases expression	1
Calcitriol	increases expression, affects cotreatment	1
Deferoxamine	decreases expression	1
Fonofos	increases methylation	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Mustard Gas	increases expression	1
Oxygen	decreases expression, affects reaction	1
Parathion	increases methylation	1
Plant Extracts	decreases expression, affects cotreatment	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Selenium	increases expression	1
Smoke	increases expression, increases abundance	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B4IK	iChEC-1	Transformed cell line	Female

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