EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000197375 (Gene tree)
Gene ID: 6584
Gene Symbol: SLC22A5
Alias: OCTN2|SCD|CDSP
Full Name: solute carrier family 22 member 5
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Plus strand
Length: 25,911 bases
Position: chr5:132,369,704-132,395,614
Accession: 10969
RBP type: non-canonical RBP
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 a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000245407	SLC22A5-201	3237	XM_011543590	ENSP00000245407	557 (aa)	XP_011541892	O76082
ENST00000461013	SLC22A5-207	10435	-	-	- (aa)	-	-
ENST00000447841	SLC22A5-205	998	-	ENSP00000389284	37 (aa)	-	H7BZF0
ENST00000435065	SLC22A5-203	1746	-	ENSP00000402760	581 (aa)	-	O76082
ENST00000479605	SLC22A5-209	561	-	-	- (aa)	-	-
ENST00000415928	SLC22A5-202	720	-	ENSP00000388838	240 (aa)	-	H7BZC0
ENST00000448810	SLC22A5-206	852	-	ENSP00000401860	136 (aa)	-	H7C1R8
ENST00000437841	SLC22A5-204	850	-	ENSP00000400553	141 (aa)	-	F8WCC9
ENST00000475308	SLC22A5-208	3693	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000197375's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa05231	Choline metabolism in cancer	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000197375	Eosinophils	6.554e-005	-
ENSG00000197375	Fibrinogen	1.0370000E-063	26561523
ENSG00000197375	Immunoglobulins	3E-6	23382691
ENSG00000197375	Fatty Acids, Omega-6	4E-6	24823311
ENSG00000197375	Crohn Disease	3E-6	17554300
ENSG00000197375	Metabolism	4E-29	24816252
ENSG00000197375	Immunoglobulins	2E-6	23382691
ENSG00000197375	acylcarnitine	1E-17	26068415
ENSG00000197375	Metabolism	1E-17	26068415
ENSG00000197375	Asthma	2E-7	20860503
ENSG00000197375	Metabolism	3E-12	24816252

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000197375	rs7731390	5	132386057	C	IgG glycosylation	23382691	[0.22-0.53] unit increase	0.3771	EFO_0005193
ENSG00000197375	rs7731390	5	132386057	C	IgG glycosylation	23382691	[0.23-0.54] unit increase	0.3846	EFO_0005193
ENSG00000197375	rs274557	5	132385512	T	Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)	24823311	[NR] unit increase	0.14	EFO_0005680
ENSG00000197375	rs274567	5	132378717	T	Blood metabolite levels	24816252	[0.012-0.024] unit increase	0.018	EFO_0005664
ENSG00000197375	rs2073643	5	132387596	T	Mosquito bite size	28199695	[0.038-0.059] unit increase	0.0483183	EFO_0008378
ENSG00000197375	rs2073643	5	132387596	T	Asthma	20860503	[1.06-1.15]	1.11	EFO_0000270
ENSG00000197375	rs11746555	5	132391341	?	Autoimmune traits	30595370			EFO_0005140
ENSG00000197375	rs2631367	5	132369766	?	White blood cell count	30595370			EFO_0004308
ENSG00000197375	rs10060615	5	132373185	C	Diastolic blood pressure	30578418	[0.098-0.198] mmHg increase	0.1483	EFO_0006336
ENSG00000197375	rs274555	5	132387259	?	Fat-free mass	30593698	[0.094-0.19] unit decrease	0.14208	EFO_0004995
ENSG00000197375	rs274555	5	132387259	?	Fat-free mass	30593698	[0.15-0.29] unit decrease	0.22148	EFO_0004995
ENSG00000197375	rs274555	5	132387259	?	Fat-free mass	30593698	[0.14-0.23] unit decrease	0.18633	EFO_0004995

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000197375's network

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0005515	protein binding	15523054.	IPI	Function
GO:0005524	ATP binding	-	IEA	Function
GO:0005886	plasma membrane	9618255.	IC	Component
GO:0005886	plasma membrane	-	TAS	Component
GO:0006814	sodium ion transport	-	IEA	Process
GO:0006855	drug transmembrane transport	-	IEA	Process
GO:0015226	carnitine transmembrane transporter activity	9685390.	EXP	Function
GO:0015226	carnitine transmembrane transporter activity	9685390.	IDA	Function
GO:0015226	carnitine transmembrane transporter activity	9916797.	IMP	Function
GO:0015238	drug transmembrane transporter activity	15238359.	IC	Function
GO:0015293	symporter activity	-	IEA	Function
GO:0015651	quaternary ammonium group transmembrane transporter activity	9618255.	IDA	Function
GO:0015697	quaternary ammonium group transport	9618255.	IDA	Process
GO:0015879	carnitine transport	9685390.	IDA	Process
GO:0015879	carnitine transport	9916797.	IMP	Process
GO:0015893	drug transport	15238359.	IC	Process
GO:0016021	integral component of membrane	-	IEA	Component
GO:0016324	apical plasma membrane	17274673.18641280.	IDA	Component
GO:0030165	PDZ domain binding	15523054.	IPI	Function
GO:0031526	brush border membrane	15238359.	IDA	Component
GO:0031526	brush border membrane	15523054.	ISS	Component
GO:0052106	quorum sensing involved in interaction with host	18005709.	IMP	Process
GO:0060731	positive regulation of intestinal epithelial structure maintenance	18005709.	IMP	Process
GO:0070062	extracellular exosome	19056867.	HDA	Component
GO:0070715	sodium-dependent organic cation transport	9685390.15238359.	IDA	Process
GO:1902603	carnitine transmembrane transport	-	TAS	Process

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
21793125	Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients.	Inflamm Bowel Dis	2012 Mar	Martini M	doi: 10.1002/ibd.21814
29428571	Integrative expression quantitative trait locus-based analysis of colorectal cancer identified a functional polymorphism regulating SLC22A5 expression.	Eur J Cancer	2018 Apr	Zou D	doi: 10.1016/j.ejca.2018.01.065

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr5	132378190	Intron	novel		0.32
BRCA	chr5	132378444	Silent	novel	L154L	0.27
BRCA	chr5	132387059	Missense_Mutation	novel	Q287E	0.54
BRCA	chr5	132395567	3'UTR	novel		0.06
BRCA	chr5	132392606	Missense_Mutation	rs11568513	V481I	0.42
CESC	chr5	132392525	Missense_Mutation	novel	Y454N	0.7
CESC	chr5	132384208	Nonsense_Mutation	novel	Q187*	0.39
CESC	chr5	132378393	Missense_Mutation	NA	E137Q	0.38
CHOL	chr5	132393789	Missense_Mutation	novel	D522N	0.17
COAD	chr5	132394395	3'UTR	novel		0.21
COAD	chr5	132384219	Silent	rs561032476	S190S	0.21
COAD	chr5	132390718	Missense_Mutation	novel	L361F	0.05
COAD	chr5	132384172	Missense_Mutation	rs781721860	V175M	0.28
COAD	chr5	132392577	Missense_Mutation	rs386134223	R471H	0.16
COAD	chr5	132390722	Missense_Mutation	NA	S362L	0.38
COAD	chr5	132392606	Missense_Mutation	rs11568513	V481I	0.17
COAD	chr5	132370115	Missense_Mutation	novel	H48R	0.18
COAD	chr5	132387039	Frame_Shift_Del	rs386134209	*R282Dfs14**	0.22
COAD	chr5	132394328	3'UTR	novel		0.19
ESCA	chr5	132390697	Missense_Mutation	novel	I354V	0.42
GBM	chr5	132394231	Missense_Mutation	NA	G545C	0.43
HNSC	chr5	132385444	Missense_Mutation	rs386134203	R257W	0.21
HNSC	chr5	132378425	Silent	novel	S147S	0.16
HNSC	chr5	132390902	Frame_Shift_Ins	novel	*D423Rfs100**	0.18
KIRP	chr5	132393812	Splice_Site	NA	X529_splice	0.4
KIRP	chr5	132369961	5'UTR	novel		0.44
LGG	chr5	132378443	Silent	novel	V153V	0.34
LGG	chr5	132387047	Missense_Mutation	NA	W283G	0.36
LIHC	chr5	132385440	Missense_Mutation	NA	D255E	0.27
LIHC	chr5	132385355	Missense_Mutation	rs185551386	R227H	0.05
LUAD	chr5	132370090	Missense_Mutation	NA	V40L	0.9
LUSC	chr5	132390714	Missense_Mutation	rs775446374	F359L	0.21
LUSC	chr5	132370162	Missense_Mutation	novel	N64D	0.24
LUSC	chr5	132394420	3'UTR	novel		0.16
LUSC	chr5	132393690	Missense_Mutation	novel	F489V	0.16
LUSC	chr5	132370015	Missense_Mutation	novel	G15R	0.1
OV	chr5	132390880	Missense_Mutation	novel	L415F	0.08
OV	chr5	132378473	Silent	novel	L163L	0.19
OV	chr5	132393796	Missense_Mutation	novel	M524K	0.86
OV	chr5	132378445	Frame_Shift_Ins	novel	*L155Gfs22**	0.13
OV	chr5	132390888	Missense_Mutation	novel	M417I	0.06
PAAD	chr5	132390806	Missense_Mutation	novel	A390D	0.18
PCPG	chr5	132384266	Missense_Mutation	novel	G206A	0.37
PRAD	chr5	132387124	Silent	novel	V308V	0.04
PRAD	chr5	132378453	Missense_Mutation	novel	S157P	0.39
PRAD	chr5	132388996	Missense_Mutation	novel	V343I	0.35
PRAD	chr5	132394259	Missense_Mutation	novel	S554N	0.49
READ	chr5	132392605	Silent	rs150457229	F480F	0.18
READ	chr5	132392605	Silent	rs150457229	F480F	0.35
SARC	chr5	132384205	Silent	rs569496252	L186L	0.36
SKCM	chr5	132384253	Missense_Mutation	NA	L202F	0.15
SKCM	chr5	132392598	Missense_Mutation	rs72552735	P478L	0.32
SKCM	chr5	132393737	Silent	NA	I504I	0.33
SKCM	chr5	132390769	Missense_Mutation	rs758027186	L378F	0.5
SKCM	chr5	132394207	Missense_Mutation	NA	S537R	0.24
SKCM	chr5	132378227	Intron	NA		0.29
SKCM	chr5	132392565	Missense_Mutation	NA	S467F	0.44
SKCM	chr5	132392566	Silent	novel	S467S	0.43
SKCM	chr5	132390789	Silent	rs749413889	V384V	0.49
SKCM	chr5	132378434	Silent	rs756089971	F150F	0.39
SKCM	chr5	132387026	Missense_Mutation	novel	F276L	0.47
SKCM	chr5	132384210	Silent	NA	Q187Q	0.3
STAD	chr5	132387039	Frame_Shift_Del	rs386134209	*R282Dfs14**	0.36
STAD	chr5	132390836	Missense_Mutation	rs371219688	R400H	0.19
STAD	chr5	132369972	5'UTR	novel		0.35
STAD	chr5	132392518	Silent	rs374662740	A451A	0.41
STAD	chr5	132385461	Silent	rs758916243	A262A	0.41
STAD	chr5	132384285	Silent	NA	V212V	0.32
THCA	chr5	132394403	3'UTR	novel		0.13
UCEC	chr5	132388976	Missense_Mutation	rs759529143	R336Q	0.3
UCEC	chr5	132395139	3'UTR	novel		0.75
UCEC	chr5	132385354	Missense_Mutation	rs546902674	R227C	0.32
UCEC	chr5	132390723	Silent	rs764371993	S362S	0.33
UCEC	chr5	132392576	Missense_Mutation	rs749282641	R471C	0.29
UCEC	chr5	132394274	3'UTR	rs375467859		0.42
UCEC	chr5	132394264	Missense_Mutation	novel	A556T	0.34
UCEC	chr5	132384222	Silent	NA	K191K	0.24
UCEC	chr5	132392465	Missense_Mutation	NA	V434M	0.33
UCEC	chr5	132394198	Missense_Mutation	novel	K534Q	0.29
UCEC	chr5	132388975	Nonsense_Mutation	rs754008420	R336*	0.35
UCEC	chr5	132394264	Missense_Mutation	novel	A556S	0.21
UCEC	chr5	132390746	Missense_Mutation	novel	G370E	0.05
UCEC	chr5	132388976	Missense_Mutation	rs759529143	R336Q	0.35
UCEC	chr5	132385354	Missense_Mutation	rs546902674	R227C	0.41
UCEC	chr5	132389017	Silent	NA	L350L	0.42
UCEC	chr5	132378398	Silent	rs150705788	D138D	0.42
UCEC	chr5	132385355	Missense_Mutation	rs185551386	R227H	0.14
UCEC	chr5	132392605	Silent	rs150457229	F480F	0.15
UCEC	chr5	132390822	Missense_Mutation	novel	Q395H	0.18
UCEC	chr5	132385354	Missense_Mutation	rs546902674	R227C	0.07
UCEC	chr5	132394265	Missense_Mutation	novel	A556V	0.05
UCEC	chr5	132378185	Intron	novel		0.41
UCEC	chr5	132384222	Missense_Mutation	rs765204844	K191N	0.56
UCEC	chr5	132392605	Silent	rs150457229	F480F	0.25
UCEC	chr5	132385489	Missense_Mutation	novel	A272T	0.23
UCEC	chr5	132392485	Silent	rs747285272	T440T	0.28
UCEC	chr5	132392612	Missense_Mutation	novel	L483I	0.2
UCEC	chr5	132395374	3'UTR	novel		0.43
UCEC	chr5	132384171	Silent	rs145350949	F174F	0.32
UVM	chr5	132378465	Missense_Mutation	novel	G161W	0.37

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
ACC	DEL	0.0222	0.19593
CHOL	DEL	0.0833	0.048655
COAD	DEL	0.1818	9.4741e-07
KIRP	DEL	0.0417	0.11554
LAML	DEL	0.089	1.2971e-07
LUAD	DEL	0.3023	7.4776e-05
LUSC	DEL	0.6467	0.002071
MESO	DEL	0.1494	0.20184
OV	DEL	0.4301	5.3759e-12
PAAD	DEL	0.0707	0.169
PRAD	AMP	0.0264	0.16448
READ	DEL	0.2545	0.014135
STAD	DEL	0.2744	2.8835e-08
THCA	AMP	0.0361	0.075436
THCA	DEL	0	0.23456
THYM	DEL	0.0081	0.10563
UCS	DEL	0.3214	0.1218

Survival Analysis

Cancer	P-value	Q-value
THYM	0.024	Kaplan-Meier Survival Analysis
KIRC	0.00062	Kaplan-Meier Survival Analysis
STAD	0.039	Kaplan-Meier Survival Analysis
MESO	0.00011	Kaplan-Meier Survival Analysis
ACC	0.0082	Kaplan-Meier Survival Analysis
PRAD	0.032	Kaplan-Meier Survival Analysis
KIRP	0.0037	Kaplan-Meier Survival Analysis
PAAD	0.0051	Kaplan-Meier Survival Analysis
PCPG	0.0092	Kaplan-Meier Survival Analysis
BLCA	0.003	Kaplan-Meier Survival Analysis
READ	0.0056	Kaplan-Meier Survival Analysis
LAML	0.0074	Kaplan-Meier Survival Analysis
UCEC	0.0008	Kaplan-Meier Survival Analysis
GBM	0.011	Kaplan-Meier Survival Analysis
LIHC	0.015	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Gene Ontology

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742