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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6535
Gene name	Solute carrier family 6 member 8
Gene symbol	SLC6A8
Synonyms (NCBI Gene)	CCDS1CRTCRT-1CRT1CRTRCT1CTR5
Chromosome	X
Chromosome location	Xq28
Summary	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2872524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338739	CTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs80338740	TTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs122453113	C>T	Pathogenic	Coding sequence variant, stop gained
rs122453114	G>C	Pathogenic	Coding sequence variant, missense variant
rs122453116	C>G	Pathogenic	Coding sequence variant, missense variant
rs122453117	G>T	Pathogenic	Coding sequence variant, missense variant
rs122453118	C>G,T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant
rs143916832	C>G,T	Benign-likely-benign, benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs149024147	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs397515558	C>T	Pathogenic	Missense variant, coding sequence variant
rs397515559	C>T	Pathogenic	Missense variant, coding sequence variant
rs782433037	AAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs782703394	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs886041471	GTGGTCTTCTCCATCCTGGGCTTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs886041818	CGACCTCCTCCCGGCCTCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041845	CTACTACTCGGCC>TTGACTACTACTACAG	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs886042005	A>G	Pathogenic	Splice acceptor variant
rs1057520594	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060502808	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794836	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795351	GAGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1085308011	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1239466041	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1557044165	G>A	Pathogenic	Splice acceptor variant
rs1557044442	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557044569	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557045066	T>C	Likely-pathogenic	Splice donor variant
rs1557045267	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1557045296	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557045333	G>A	Pathogenic	Splice donor variant
rs1557045475	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557045581	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557045704	G>A	Pathogenic	Stop gained, coding sequence variant
rs1569539244	A>G	Pathogenic	Splice acceptor variant
rs1569539358	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569539359	->A	Pathogenic	Coding sequence variant, stop gained
rs1569539381	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569539437	TC>AG	Pathogenic	Coding sequence variant, missense variant
rs1569539439	TCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1569539443	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569539466	C>G	Pathogenic	Coding sequence variant, stop gained
rs1603214377	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603215013	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1603215223	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603216806	TTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603217176	A>C	Pathogenic	Splice acceptor variant
rs1603217468	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1603217473	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603217815	C>A	Pathogenic	Coding sequence variant, missense variant

430

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049670	hsa-miR-92a-3p	CLASH	23622248
MIRT048259	hsa-miR-196a-5p	CLASH	23622248
MIRT044490	hsa-miR-320a	CLASH	23622248
MIRT041648	hsa-miR-484	CLASH	23622248
MIRT036805	hsa-miR-877-3p	CLASH	23622248
MIRT036805	hsa-miR-877-3p	CLASH	23622248
MIRT699249	hsa-miR-3976	HITS-CLIP	23313552
MIRT699248	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699247	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699246	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT699245	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT699244	hsa-miR-3128	HITS-CLIP	23313552
MIRT699242	hsa-miR-6868-5p	HITS-CLIP	23313552
MIRT699243	hsa-miR-4720-5p	HITS-CLIP	23313552
MIRT699241	hsa-miR-4799-3p	HITS-CLIP	23313552
MIRT699240	hsa-miR-5588-5p	HITS-CLIP	23313552
MIRT699239	hsa-miR-1256	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT653442	hsa-miR-5680	HITS-CLIP	23824327
MIRT036805	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT653441	hsa-miR-4448	HITS-CLIP	23824327
MIRT653440	hsa-miR-4437	HITS-CLIP	23824327
MIRT653439	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT653438	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653436	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT653437	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653435	hsa-miR-4674	HITS-CLIP	23824327
MIRT653434	hsa-miR-1587	HITS-CLIP	23824327
MIRT653433	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT565587	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT565586	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565585	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565584	hsa-miR-3174	PAR-CLIP	20371350
MIRT565583	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT565582	hsa-miR-3663-3p	PAR-CLIP	20371350
MIRT565581	hsa-miR-3148	PAR-CLIP	20371350
MIRT565580	hsa-miR-6124	PAR-CLIP	20371350
MIRT565579	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT565578	hsa-miR-921	PAR-CLIP	20371350
MIRT565577	hsa-miR-4477a	PAR-CLIP	20371350
MIRT565576	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT259388	hsa-miR-300	PAR-CLIP	20371350
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT546454	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT259396	hsa-miR-3662	PAR-CLIP	20371350
MIRT259393	hsa-miR-3163	PAR-CLIP	20371350
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT259400	hsa-miR-548aw	PAR-CLIP	20371350
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259404	hsa-miR-7109-3p	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT554172	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259402	hsa-miR-6791-3p	PAR-CLIP	21572407
MIRT259403	hsa-miR-6829-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT699249	hsa-miR-3976	HITS-CLIP	23313552
MIRT699248	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699247	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699246	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT699245	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT699244	hsa-miR-3128	HITS-CLIP	23313552
MIRT699242	hsa-miR-6868-5p	HITS-CLIP	23313552
MIRT699243	hsa-miR-4720-5p	HITS-CLIP	23313552
MIRT699241	hsa-miR-4799-3p	HITS-CLIP	23313552
MIRT699240	hsa-miR-5588-5p	HITS-CLIP	23313552
MIRT699239	hsa-miR-1256	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT653442	hsa-miR-5680	HITS-CLIP	23824327
MIRT036805	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT653441	hsa-miR-4448	HITS-CLIP	23824327
MIRT653440	hsa-miR-4437	HITS-CLIP	23824327
MIRT653439	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT653438	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653436	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT653437	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653435	hsa-miR-4674	HITS-CLIP	23824327
MIRT653434	hsa-miR-1587	HITS-CLIP	23824327
MIRT653433	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT565587	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT565586	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565585	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565584	hsa-miR-3174	PAR-CLIP	20371350
MIRT565583	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT565582	hsa-miR-3663-3p	PAR-CLIP	20371350
MIRT565581	hsa-miR-3148	PAR-CLIP	20371350
MIRT565580	hsa-miR-6124	PAR-CLIP	20371350
MIRT565579	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT565578	hsa-miR-921	PAR-CLIP	20371350
MIRT565577	hsa-miR-4477a	PAR-CLIP	20371350
MIRT565576	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT259388	hsa-miR-300	PAR-CLIP	20371350
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT546454	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT259396	hsa-miR-3662	PAR-CLIP	20371350
MIRT259393	hsa-miR-3163	PAR-CLIP	20371350
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT259400	hsa-miR-548aw	PAR-CLIP	20371350
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259404	hsa-miR-7109-3p	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT554172	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259402	hsa-miR-6791-3p	PAR-CLIP	21572407
MIRT259403	hsa-miR-6829-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT1366597	hsa-miR-3145-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366600	hsa-miR-3689a-5p	CLIP-seq
MIRT1366601	hsa-miR-3689b	CLIP-seq
MIRT1366602	hsa-miR-3689e	CLIP-seq
MIRT1366603	hsa-miR-3689f	CLIP-seq
MIRT1366604	hsa-miR-3940-5p	CLIP-seq
MIRT1366605	hsa-miR-4507	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366607	hsa-miR-541	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366609	hsa-miR-654-5p	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT1366614	hsa-miR-4284	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366618	hsa-miR-486-3p	CLIP-seq
MIRT1366619	hsa-miR-513a-5p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366620	hsa-miR-548ag	CLIP-seq
MIRT1366621	hsa-miR-548ai	CLIP-seq
MIRT1366622	hsa-miR-555	CLIP-seq
MIRT1366623	hsa-miR-1254	CLIP-seq
MIRT1366624	hsa-miR-184	CLIP-seq
MIRT1366625	hsa-miR-1913	CLIP-seq
MIRT1366626	hsa-miR-216a	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT1366629	hsa-miR-2277-3p	CLIP-seq
MIRT1366630	hsa-miR-25	CLIP-seq
MIRT1366631	hsa-miR-3116	CLIP-seq
MIRT1366632	hsa-miR-3144-5p	CLIP-seq
MIRT1366633	hsa-miR-3153	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366634	hsa-miR-3191	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366635	hsa-miR-32	CLIP-seq
MIRT1366636	hsa-miR-324-3p	CLIP-seq
MIRT1366637	hsa-miR-324-5p	CLIP-seq
MIRT1366638	hsa-miR-331-3p	CLIP-seq
MIRT1366639	hsa-miR-340	CLIP-seq
MIRT1366640	hsa-miR-363	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366641	hsa-miR-3669	CLIP-seq
MIRT1366642	hsa-miR-367	CLIP-seq
MIRT1366643	hsa-miR-3689d	CLIP-seq
MIRT1366644	hsa-miR-3690	CLIP-seq
MIRT1366645	hsa-miR-3714	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT1366646	hsa-miR-4254	CLIP-seq
MIRT1366647	hsa-miR-4270	CLIP-seq
MIRT1366648	hsa-miR-4308	CLIP-seq
MIRT1366649	hsa-miR-4313	CLIP-seq
MIRT1366650	hsa-miR-4441	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366652	hsa-miR-4466	CLIP-seq
MIRT1366653	hsa-miR-4475	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366654	hsa-miR-4652-5p	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366656	hsa-miR-4749-3p	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366657	hsa-miR-491-5p	CLIP-seq
MIRT1366658	hsa-miR-513c	CLIP-seq
MIRT1366659	hsa-miR-519a	CLIP-seq
MIRT1366660	hsa-miR-519b-3p	CLIP-seq
MIRT1366661	hsa-miR-519c-3p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366662	hsa-miR-548an	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366664	hsa-miR-659	CLIP-seq
MIRT1366665	hsa-miR-675	CLIP-seq
MIRT1366666	hsa-miR-92a	CLIP-seq
MIRT1366667	hsa-miR-92b	CLIP-seq
MIRT1366668	hsa-miR-940	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT2108759	hsa-miR-1184	CLIP-seq
MIRT2108760	hsa-miR-1231	CLIP-seq
MIRT1366623	hsa-miR-1254	CLIP-seq
MIRT2108761	hsa-miR-1909	CLIP-seq
MIRT2108762	hsa-miR-2052	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT1366631	hsa-miR-3116	CLIP-seq
MIRT2108763	hsa-miR-3120-5p	CLIP-seq
MIRT2108764	hsa-miR-3140-3p	CLIP-seq
MIRT2108765	hsa-miR-3150a-3p	CLIP-seq
MIRT2108766	hsa-miR-3151	CLIP-seq
MIRT2108767	hsa-miR-3152-5p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT2108768	hsa-miR-3158-5p	CLIP-seq
MIRT2108769	hsa-miR-3160-5p	CLIP-seq
MIRT2108770	hsa-miR-3170	CLIP-seq
MIRT2108771	hsa-miR-3173-5p	CLIP-seq
MIRT2108772	hsa-miR-3175	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT2108773	hsa-miR-342-5p	CLIP-seq
MIRT2108774	hsa-miR-361-3p	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT2108775	hsa-miR-3907	CLIP-seq
MIRT2108776	hsa-miR-4283	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT1366652	hsa-miR-4466	CLIP-seq
MIRT2108777	hsa-miR-4489	CLIP-seq
MIRT2108778	hsa-miR-4492	CLIP-seq
MIRT2108779	hsa-miR-4498	CLIP-seq
MIRT2108780	hsa-miR-4514	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT2108781	hsa-miR-4645-5p	CLIP-seq
MIRT2108782	hsa-miR-4656	CLIP-seq
MIRT2108783	hsa-miR-4664-5p	CLIP-seq
MIRT2108784	hsa-miR-4667-3p	CLIP-seq
MIRT2108785	hsa-miR-4673	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT2108786	hsa-miR-4692	CLIP-seq
MIRT2108787	hsa-miR-4713-5p	CLIP-seq
MIRT2108788	hsa-miR-4746-3p	CLIP-seq
MIRT2108789	hsa-miR-4774-3p	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT2108790	hsa-miR-512-5p	CLIP-seq
MIRT2108791	hsa-miR-548t	CLIP-seq
MIRT2108792	hsa-miR-578	CLIP-seq
MIRT2108793	hsa-miR-615-5p	CLIP-seq
MIRT2108794	hsa-miR-635	CLIP-seq
MIRT2108795	hsa-miR-668	CLIP-seq
MIRT1366665	hsa-miR-675	CLIP-seq
MIRT2108796	hsa-miR-762	CLIP-seq
MIRT2108797	hsa-miR-939	CLIP-seq
MIRT2332387	hsa-miR-135a	CLIP-seq
MIRT2332388	hsa-miR-135b	CLIP-seq
MIRT2332389	hsa-miR-138	CLIP-seq
MIRT2332390	hsa-miR-149	CLIP-seq
MIRT2108761	hsa-miR-1909	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT2332391	hsa-miR-3064-5p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT2332392	hsa-miR-3160-3p	CLIP-seq
MIRT2108770	hsa-miR-3170	CLIP-seq
MIRT2332393	hsa-miR-3173-3p	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT2332394	hsa-miR-342-3p	CLIP-seq
MIRT2108774	hsa-miR-361-3p	CLIP-seq
MIRT2332395	hsa-miR-3652	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT2332396	hsa-miR-4257	CLIP-seq
MIRT1366614	hsa-miR-4284	CLIP-seq
MIRT2332397	hsa-miR-4299	CLIP-seq
MIRT2332398	hsa-miR-4428	CLIP-seq
MIRT2332399	hsa-miR-4430	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT2332400	hsa-miR-4487	CLIP-seq
MIRT2332401	hsa-miR-4505	CLIP-seq
MIRT2108780	hsa-miR-4514	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT2108781	hsa-miR-4645-5p	CLIP-seq
MIRT2108782	hsa-miR-4656	CLIP-seq
MIRT2108784	hsa-miR-4667-3p	CLIP-seq
MIRT2108785	hsa-miR-4673	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT2108786	hsa-miR-4692	CLIP-seq
MIRT2108787	hsa-miR-4713-5p	CLIP-seq
MIRT2332402	hsa-miR-4792	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366618	hsa-miR-486-3p	CLIP-seq
MIRT2108790	hsa-miR-512-5p	CLIP-seq
MIRT1366619	hsa-miR-513a-5p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366620	hsa-miR-548ag	CLIP-seq
MIRT1366621	hsa-miR-548ai	CLIP-seq
MIRT2108791	hsa-miR-548t	CLIP-seq
MIRT1366622	hsa-miR-555	CLIP-seq
MIRT2332403	hsa-miR-558	CLIP-seq
MIRT2108792	hsa-miR-578	CLIP-seq
MIRT2108793	hsa-miR-615-5p	CLIP-seq
MIRT2108794	hsa-miR-635	CLIP-seq
MIRT2108795	hsa-miR-668	CLIP-seq
MIRT2332404	hsa-miR-760	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT2108762	hsa-miR-2052	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2108764	hsa-miR-3140-3p	CLIP-seq
MIRT2108767	hsa-miR-3152-5p	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT2108789	hsa-miR-4774-3p	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005308	Function	Creatine transmembrane transporter activity	NAS	8661037
GO:0005309	Function	Creatine:sodium symporter activity	IDA	7945388, 7953292, 9882430
GO:0005309	Function	Creatine:sodium symporter activity	IEA
GO:0005309	Function	Creatine:sodium symporter activity	IMP	17465020, 22644605, 25861866
GO:0005309	Function	Creatine:sodium symporter activity	ISS	25531585
GO:0005309	Function	Creatine:sodium symporter activity	TAS	7953292
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22644605
GO:0005886	Component	Plasma membrane	TAS
GO:0006600	Process	Creatine metabolic process	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0006936	Process	Muscle contraction	TAS	8661155
GO:0015293	Function	Symporter activity	IEA
GO:0015812	Process	Gamma-aminobutyric acid transport	IEA
GO:0015881	Process	Creatine transmembrane transport	IMP	25861866
GO:0015881	Process	Creatine transmembrane transport	NAS	8661037
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7953292
GO:0016324	Component	Apical plasma membrane	IDA	12433955
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA

MIM	HGNC	e!Ensembl
300036	11055	ENSG00000130821

P48029

Protein name

Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)

Protein function

Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain b

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00209	SNF	52 → 583	Sodium:neurotransmitter symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. {ECO:0000269|PubMed:7945388, ECO:0000269|PubMed:7953292}.

Sequence

MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD
FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS
INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD
CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVF
SILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASG
TTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVV
YYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWG
LHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM

Sequence length

635

Interactions

View interactions

	Reactome
			Creatine metabolism

1164

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs1557045296	RCV000626885
Creatine transporter deficiency	Likely pathogenic; Pathogenic	rs2091437670, rs2148364156, rs2148363243, rs2148364124, rs2148364489, rs2148363006, rs1557044461, rs2091474617, rs2148363211, rs2148363723, rs2148363178, rs2148363661, rs2148361006, rs2148364395, rs2148361002 View all (117 more)	RCV001323525 RCV001374454 RCV001381299 RCV001391014 RCV001383303 RCV003512116 RCV003159211 RCV001754572 RCV001923263 RCV001951819 RCV001935738 RCV001874229 RCV001889577 RCV001891335 RCV001920126 RCV001938993 RCV001886066 RCV002222886 RCV002227731 RCV002246728 RCV002250393 RCV002271846 RCV003334068 RCV002282876 RCV002283355 RCV002284995 RCV002289362 RCV002465388 RCV002468792 RCV002720297 RCV002820713 RCV002867043 RCV003013702 RCV003019465 RCV003159279 RCV003159280 RCV003159281 RCV003159282 RCV003159283 RCV003226112 RCV000012471 RCV002519061 RCV003233457 RCV003236551 RCV000012462 RCV000012463 RCV000012464 RCV000012465 RCV000012467 RCV000012468 RCV000012469 RCV000012470 RCV003314508 RCV003314526 RCV003334336 RCV003334337 RCV003334338 RCV003334340 RCV003334342 RCV003334343 RCV003334344 RCV003334345 RCV003334346 RCV003388817 RCV003448518 RCV003472946 RCV003482176 RCV003482177 RCV003482178 RCV003482179 RCV003482180 RCV003482181 RCV003482182 RCV003512842 RCV003512956 RCV003625503 RCV003883230 RCV003991427 RCV003991429 RCV003991430 RCV003991431 RCV003991433 RCV003991434 RCV003991435 RCV003991438 RCV003991439 RCV003991443 RCV003991446 RCV003991447 RCV003991448 RCV003991449 RCV003991450 RCV003991453 RCV003991454 RCV003991455 RCV003991456 RCV003991457 RCV004573647 RCV004594810 RCV004595246 RCV000020635 RCV000472365 RCV000503193 RCV001851485 RCV002305500 RCV001844184 RCV000551024 RCV001803901 RCV000640934 RCV000640931 RCV000703298 RCV000705494 RCV000704541 RCV002305533 RCV001221369 RCV000786917 RCV000807177 RCV000821021 RCV000825014 RCV000851519 RCV000055918 RCV000055919 RCV000990970 RCV001009546 RCV001027537 RCV001066106 RCV001214605 RCV001210427 RCV001241124 RCV001226930 RCV001251109 RCV001262629 RCV001262444 RCV001263495
Intellectual disability	Likely pathogenic; Pathogenic	rs2148363006, rs122453113, rs1557045296, rs1557045250, rs2091475771	RCV001528192 RCV001257720 RCV000626885 RCV001255373 RCV001257719
Low-set ears	Likely pathogenic	rs1557045296	RCV000626885
Neurodevelopmental disorder	Likely pathogenic	rs2148363775	RCV001375028
Seizure	Likely pathogenic	rs1557045296	RCV000626885
SLC6A8-related disorder	Likely pathogenic	rs2522163590	RCV003919247
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2148363243, rs2091474617	RCV005912630 RCV005920740

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1569539437, rs1569539439	-
Cervical cancer	Benign; Likely benign	rs150207268	RCV005892369
Clear cell carcinoma of kidney	Benign; Likely benign	rs150207268	RCV005892371
Colon adenocarcinoma	Benign; Likely benign	rs1411836045	RCV005912416
Congenital cerebellar hypoplasia	Benign; Likely benign	rs145438966	RCV005625594
Creatine deficiency syndrome 1	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs782790088, rs1557045400, rs2314078, rs2060322395, rs781848986, rs782213020, rs1557045848, rs1224242554, rs2148364519, rs781983557, rs149357346, rs371599516, rs782354054, rs1183910478, rs1557045470 View all (44 more)	RCV001835526 RCV001836299 RCV001835550 RCV001831104 RCV001826060 RCV005606898 RCV005606913 RCV005606947 RCV005606933 RCV001826359 RCV001832722 RCV001836429 RCV001826353 RCV005606959 RCV001827518 RCV001276522 RCV005608635 RCV005608634 RCV001835718 RCV001828019 RCV001828095 RCV005609032 RCV005609048 RCV001835788 RCV001833503 RCV001828386 RCV001276525 RCV001833600 RCV001276526 RCV001829418 RCV001834620 RCV001834680 RCV001834703 RCV001829583 RCV001829900 RCV001830511 RCV001825429 RCV001276523 RCV001830713 RCV001830746 RCV001276524 RCV001825691 RCV001830866 RCV001825717 RCV001279583 RCV001825720 RCV001825739 RCV001830889 RCV005606717 RCV001825727 RCV001830922 RCV001836039 RCV001830943 RCV001832149 RCV001832139 RCV001276527 RCV001276528 RCV001828584 RCV001830032 RCV001835288 RCV001279582 RCV001830202
Developmental disorder	Uncertain significance	rs2091437228	RCV001843769
Familial cancer of breast	Benign; Likely benign	rs150207268	RCV005892368
Gastric cancer	Likely benign	rs1557044163	RCV005912812
Malignant tumor of esophagus	Likely benign	rs373525249	RCV005925515
Ovarian cancer	Benign; Likely benign	rs150207268	RCV005892370
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs150207268	RCV005892373
Rhombencephalosynapsis	Benign; Likely benign	rs138064933	RCV005621945
Sarcoma	Benign; Likely benign	rs150207268	RCV005892372
See cases	Likely benign	rs373525249	RCV002252178
Squamous cell carcinoma of the head and neck	Benign; Likely benign	rs1411836045	RCV005912417
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs150207268	RCV005892374

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apraxias	Associate	22713831
Arthritis Juvenile	Associate	38243323
Autism Spectrum Disorder	Associate	22543975
Autistic Disorder	Associate	22713831
Carcinoma Hepatocellular	Associate	33356959
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35588794
Creatine deficiency X linked	Associate	11326334, 11898126, 15154114, 16601897, 17553121, 20717164, 21910234, 22713831, 23234264, 27096572, 28049948, 28758966, 30400883, 33334757, 33656256 View all (7 more)
Creatine deficiency X linked	Inhibit	11898126, 40338959
Epilepsies Myoclonic	Associate	30558019
Epilepsy	Associate	17553121, 22713831
Fragile X Syndrome	Associate	15154114
Genetic Diseases Inborn	Associate	36752093
Intellectual Disability	Associate	11898126, 21267006, 21556832, 21910234, 27096572, 30400883, 31906484, 33356959
Learning Disabilities	Associate	11326334, 11898126
Leukemia	Associate	34807526
Mannose Binding Protein Deficiency	Associate	32052928
Mental Disorders	Associate	30400883, 33356959
Mental Retardation X Linked	Associate	11898126, 15154114
Mental Retardation X Linked Nonsyndromic	Associate	15154114
Mitochondrial Diseases	Associate	40702043
Neoplasms	Associate	34807526
Pre Eclampsia	Associate	31991880
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	34807526
Seizures	Associate	11898126
Speech Disorders	Associate	33356959
Vitamin D Deficiency	Associate	30400883

SLC6A8 (solute carrier family 6 member 8)