Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6583
Gene name	Solute carrier family 22 member 4
Gene symbol	SLC22A4
Synonyms (NCBI Gene)	DFNB60ETThOCTN1
Chromosome	5
Chromosome location	5q31.1
Summary	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic c

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT627112	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT614650	hsa-miR-8485	HITS-CLIP	23824327
MIRT614649	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT614648	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT614647	hsa-miR-603	HITS-CLIP	23824327
MIRT614646	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT614645	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT614644	hsa-miR-3941	HITS-CLIP	23824327
MIRT1354527	hsa-miR-1182	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354529	hsa-miR-193a-5p	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT1354532	hsa-miR-515-5p	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT1354528	hsa-miR-1292	CLIP-seq
MIRT1354530	hsa-miR-4276	CLIP-seq
MIRT1354531	hsa-miR-4471	CLIP-seq
MIRT2623859	hsa-miR-1251	CLIP-seq
MIRT2623860	hsa-miR-1305	CLIP-seq
MIRT2623861	hsa-miR-3173-3p	CLIP-seq
MIRT2623862	hsa-miR-3617	CLIP-seq
MIRT2623863	hsa-miR-4307	CLIP-seq
MIRT2623864	hsa-miR-4422	CLIP-seq
MIRT2623865	hsa-miR-4428	CLIP-seq
MIRT2623866	hsa-miR-4452	CLIP-seq
MIRT2623867	hsa-miR-498	CLIP-seq
MIRT2623868	hsa-miR-522	CLIP-seq
MIRT2623869	hsa-miR-641	CLIP-seq
MIRT2623859	hsa-miR-1251	CLIP-seq
MIRT2623860	hsa-miR-1305	CLIP-seq
MIRT2623861	hsa-miR-3173-3p	CLIP-seq
MIRT2623862	hsa-miR-3617	CLIP-seq
MIRT2623863	hsa-miR-4307	CLIP-seq
MIRT2623864	hsa-miR-4422	CLIP-seq
MIRT2623865	hsa-miR-4428	CLIP-seq
MIRT2623866	hsa-miR-4452	CLIP-seq
MIRT2623867	hsa-miR-498	CLIP-seq
MIRT2623868	hsa-miR-522	CLIP-seq
MIRT2623869	hsa-miR-641	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
RUNX1	Unknown	15184985;17142562;18328148

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000101	Process	Sulfur amino acid transport	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005277	Function	Acetylcholine transmembrane transporter activity	IDA	22569296
GO:0005515	Function	Protein binding	IPI	15523054
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16729965
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	IC	9426230
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9426230
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007595	Process	Lactation	IEA
GO:0008513	Function	Secondary active organic cation transmembrane transporter activity	TAS
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009925	Component	Basal plasma membrane	IDA	35307651
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015101	Function	Organic cation transmembrane transporter activity	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	IDA	23567998
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IDA	33124720
GO:0015199	Function	Amino-acid betaine transmembrane transporter activity	IEA
GO:0015226	Function	Carnitine transmembrane transporter activity	IDA	16729965
GO:0015226	Function	Carnitine transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IBA
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IDA	9426230, 23567998
GO:0015651	Function	Quaternary ammonium group transmembrane transporter activity	IEA
GO:0015697	Process	Quaternary ammonium group transport	IBA
GO:0015697	Process	Quaternary ammonium group transport	IDA	9426230, 23567998
GO:0015697	Process	Quaternary ammonium group transport	IEA
GO:0015697	Process	Quaternary ammonium group transport	IEA
GO:0015879	Process	Carnitine transport	IDA	16729965
GO:0015879	Process	Carnitine transport	IEA
GO:0015879	Process	Carnitine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	18641280, 20601551
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	IPI	15523054
GO:0031966	Component	Mitochondrial membrane	IDA	16729965
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033280	Process	Response to vitamin D	IEA
GO:0042908	Process	Xenobiotic transport	IDA	23567998
GO:0042908	Process	Xenobiotic transport	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0051630	Process	Acetylcholine uptake	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0089718	Process	Amino acid import across plasma membrane	IDA	23567998
GO:0097421	Process	Liver regeneration	IEA
GO:1902603	Process	Carnitine transmembrane transport	IEA

MIM	HGNC	e!Ensembl
604190	10968	ENSG00000197208

Q9H015

Protein name

Solute carrier family 22 member 4 (Ergothioneine transporter) (ET transporter) (ETTh) (Organic cation/carnitine transporter 1) (OCTN1)

Protein function

Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:10215651, PubMed:15107849, PubMed:15795384, PubMed:16729965, PubMed:20601551, PubMed:22206629, PubMed:22569296, PubMed:29530864). Functio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	107 → 522	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:9426230). Highly expressed in kidney, trachea, ileum, bone marrow and whole blood (PubMed:15795384, PubMed:9426230). Expressed in small intestines (PubMed:20601551). Weakly expressed in skeletal muscle, prostat

Sequence

MRDYDEVIAFLGEWGPFQRLIFFLLSASIIPNGFNGMSVVFLAGTPEHRCRVPDAANLSS
AWRNNSVPLRLRDGREVPHSCSRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS
QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSFVSGQLSDRFGRKNVLFATMAVQ
TGFSFLQIFSISWEMFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFA
VGYMLLPLFAYFIRDWRMLLLALTVPGVLCVPLWWFIPESPRWLISQRRFREAEDIIQKA
AKMNNIAVPAVIFDSVEELNPLKQQKAFILDLFRTRNIAIMTIMSLLLWMLTSVGYFALS
LDAPNLHGDAYLNCFLSALIEIPAYITAWLLLRTLPRRYIIAAVLFWGGGVLLFIQLVPV
DYYFLSIGLVMLGKFGITSAFSMLYVFTAELYPTLVRNMAVGVTSTASRVGSIIAPYFVY
LGAYNRMLPYIVMGSLTVLIGILTLFFPESLGMTLPETLEQMQKVKWFRSGKKTRDSMET
EENPKVLITAF

Sequence length

551

Interactions

View interactions

	KEGG		Reactome
	Choline metabolism in cancer		Organic cation transport

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs2304081	RCV005920456
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs2304081	RCV005920457
Colorectal cancer	Benign	rs2304081	RCV005920454
Familial cancer of breast	Benign	rs2304081	RCV005920449
Familial pancreatic carcinoma	Benign	rs2304081	RCV005920453
Hereditary hearing loss and deafness	Uncertain significance	rs768484124	RCV001523786
Lymphoma	Benign	rs2304081	RCV005920455
Nonpapillary renal cell carcinoma	Benign	rs2304081	RCV005920450
Ovarian cancer	Benign	rs2304081	RCV005920451
Papillary renal cell carcinoma type 1	Uncertain significance	rs148341373	RCV005934805
Rheumatoid arthritis	risk factor	rs3792876	RCV000006105
SLC22A4 POLYMORPHISM	Benign	rs1050152	RCV000006106
SLC22A4-related disorder	Likely benign; Benign; Uncertain significance	rs201822770, rs747086200, rs11568499, rs372338512, rs1304248566, rs116837840, rs146705097, rs375225322, rs989401134, rs2532039032, rs144122563, rs2532058482, rs11568501, rs768533971, rs753288548, rs11568511, rs61731074 View all (2 more)	RCV003892968 RCV004752148 RCV003951158 RCV003958839 RCV003418543 RCV003926455 RCV003418664 RCV003414119 RCV003412146 RCV003394320 RCV003894659 RCV003904302 RCV003931459 RCV003958910 RCV004750963 RCV003905937 RCV003932943
Uveal melanoma	Benign	rs2304081	RCV005920452

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	15693005, 15751072, 16255050, 16484987, 16796743, 25707686, 26329403
Asthma	Associate	16519819
Autoimmune Diseases	Associate	16249223, 16796743, 26329403
Cerebral Infarction	Associate	35962388
Chronic Disease	Associate	20031577
Colitis Ulcerative	Associate	16469794, 39328405
Colonic Diseases	Associate	21079743
COVID 19	Associate	38538269
Crohn Disease	Associate	15693005, 16255050, 16361305, 16437728, 16469794, 16484987, 16796743, 17006998, 17451203, 17786191, 18614543, 18715515, 20031577, 21816865, 22206629, 22411504, 26329403 View all (2 more)
Diabetes Mellitus Type 1	Associate	16796743
Diabetes Mellitus Type 2	Associate	36528847
Graves Disease	Associate	16519819
Hearing Loss	Associate	34194829
Heart Failure	Associate	29901123
Ige Responsiveness Atopic	Associate	16519819
Inflammation	Associate	18433468, 29678179, 32964310
Inflammatory Bowel Disease 5	Associate	22440928
Inflammatory Bowel Diseases	Associate	16469794, 23474282, 25314644
Intracranial Aneurysm	Associate	39181687
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	28420426, 32027818
Leukemia Myeloid Acute	Associate	32905646
Lung Diseases	Associate	29678179
Lupus Erythematosus Systemic	Associate	16519819
Mucocutaneous Lymph Node Syndrome	Associate	40457357
Multiple Sclerosis	Associate	16519819
Neoplasms	Associate	9426230
Neoplasms Adipose Tissue	Associate	32964310
Polycythemia Vera	Associate	33677043
Psoriasis	Associate	16519819, 18614543, 26613086
Pulmonary Disease Chronic Obstructive	Associate	29678179
Renal Insufficiency Chronic	Associate	29153133
Sleep Deprivation	Associate	38538269
Tooth Erosion	Associate	25707686
Tooth Loss	Associate	32964310
Torsades de Pointes	Associate	19528813

SLC22A4 (solute carrier family 22 member 4)