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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2222
Gene name	Farnesyl-diphosphate farnesyltransferase 1
Gene symbol	FDFT1
Synonyms (NCBI Gene)	DGPTERG9SQSSQSDSS
Chromosome	8
Chromosome location	8p23.1
Summary	This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1563339323	TC>AG	Likely-pathogenic	Intron variant

317

Show/Hide all (317)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018425	hsa-miR-335-5p	Microarray	18185580
MIRT020885	hsa-miR-155-5p	Proteomics	18668040
MIRT029745	hsa-miR-26b-5p	Microarray	19088304
MIRT045529	hsa-miR-149-5p	CLASH	23622248
MIRT036774	hsa-miR-760	CLASH	23622248
MIRT994259	hsa-miR-105	CLIP-seq
MIRT994260	hsa-miR-1243	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994264	hsa-miR-1276	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT994266	hsa-miR-147	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994277	hsa-miR-216a	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT994281	hsa-miR-2682	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT994284	hsa-miR-3148	CLIP-seq
MIRT994285	hsa-miR-3163	CLIP-seq
MIRT994286	hsa-miR-3165	CLIP-seq
MIRT994287	hsa-miR-3190	CLIP-seq
MIRT994288	hsa-miR-33a	CLIP-seq
MIRT994289	hsa-miR-33b	CLIP-seq
MIRT994290	hsa-miR-340	CLIP-seq
MIRT994291	hsa-miR-3613-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT994293	hsa-miR-3654	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT994295	hsa-miR-370	CLIP-seq
MIRT994296	hsa-miR-3714	CLIP-seq
MIRT994297	hsa-miR-371-5p	CLIP-seq
MIRT994298	hsa-miR-371b-5p	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994300	hsa-miR-3911	CLIP-seq
MIRT994301	hsa-miR-3921	CLIP-seq
MIRT994302	hsa-miR-3925-5p	CLIP-seq
MIRT994303	hsa-miR-3938	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT994308	hsa-miR-4311	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT994310	hsa-miR-449c	CLIP-seq
MIRT994311	hsa-miR-4645-3p	CLIP-seq
MIRT994312	hsa-miR-4653-5p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT994317	hsa-miR-4695-3p	CLIP-seq
MIRT994318	hsa-miR-4704-3p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994320	hsa-miR-4768-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994322	hsa-miR-4795-3p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT994327	hsa-miR-548an	CLIP-seq
MIRT994328	hsa-miR-548c-3p	CLIP-seq
MIRT994329	hsa-miR-548n	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994332	hsa-miR-583	CLIP-seq
MIRT994333	hsa-miR-584	CLIP-seq
MIRT994334	hsa-miR-599	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT994336	hsa-miR-644	CLIP-seq
MIRT994337	hsa-miR-944	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq
MIRT994337	hsa-miR-944	CLIP-seq
MIRT994259	hsa-miR-105	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT994311	hsa-miR-4645-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT994317	hsa-miR-4695-3p	CLIP-seq
MIRT994318	hsa-miR-4704-3p	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT2387961	hsa-miR-3122	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2387962	hsa-miR-3913-5p	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994259	hsa-miR-105	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT2532509	hsa-miR-1272	CLIP-seq
MIRT994264	hsa-miR-1276	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2532510	hsa-miR-136	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT2532511	hsa-miR-28-5p	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT2532512	hsa-miR-3139	CLIP-seq
MIRT2532513	hsa-miR-3145-5p	CLIP-seq
MIRT994284	hsa-miR-3148	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT2532514	hsa-miR-3662	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994302	hsa-miR-3925-5p	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT2532515	hsa-miR-4272	CLIP-seq
MIRT994308	hsa-miR-4311	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT2532516	hsa-miR-4496	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT2532517	hsa-miR-4537	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT2532518	hsa-miR-4698	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT2532519	hsa-miR-508-5p	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT2532520	hsa-miR-539	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT2532521	hsa-miR-548a-5p	CLIP-seq
MIRT2532522	hsa-miR-548ab	CLIP-seq
MIRT2532523	hsa-miR-548ak	CLIP-seq
MIRT2532524	hsa-miR-548b-5p	CLIP-seq
MIRT2532525	hsa-miR-548c-5p	CLIP-seq
MIRT2532526	hsa-miR-548d-5p	CLIP-seq
MIRT2532527	hsa-miR-548h	CLIP-seq
MIRT2532528	hsa-miR-548i	CLIP-seq
MIRT2532529	hsa-miR-548j	CLIP-seq
MIRT2532530	hsa-miR-548k	CLIP-seq
MIRT2532531	hsa-miR-548l	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT2532532	hsa-miR-548w	CLIP-seq
MIRT2532533	hsa-miR-548y	CLIP-seq
MIRT2532534	hsa-miR-559	CLIP-seq
MIRT2532535	hsa-miR-570	CLIP-seq
MIRT994332	hsa-miR-583	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT2532536	hsa-miR-708	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT2532509	hsa-miR-1272	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2532510	hsa-miR-136	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT2532511	hsa-miR-28-5p	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT2532512	hsa-miR-3139	CLIP-seq
MIRT2532513	hsa-miR-3145-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT2532514	hsa-miR-3662	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT2532515	hsa-miR-4272	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT2532517	hsa-miR-4537	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT2532518	hsa-miR-4698	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT2532519	hsa-miR-508-5p	CLIP-seq
MIRT2532520	hsa-miR-539	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT2532535	hsa-miR-570	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT2532536	hsa-miR-708	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq

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Transcription factor	Regulation	Reference
SREBF1	Unknown	11008488;11111077
SREBF2	Unknown	11008488;11111077

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	TAS	8474436
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8474436
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0045338	Process	Farnesyl diphosphate metabolic process	IBA
GO:0045338	Process	Farnesyl diphosphate metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051996	Function	Squalene synthase [NAD(P)H] activity	IBA
GO:0051996	Function	Squalene synthase [NAD(P)H] activity	IEA

MIM	HGNC	e!Ensembl
184420	3629	ENSG00000079459

P37268

Protein name

Squalene synthase (SQS) (SS) (EC 2.5.1.21) (FPP:FPP farnesyltransferase) (Farnesyl-diphosphate farnesyltransferase) (Farnesyl-diphosphate farnesyltransferase 1)

Protein function

Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with

PDB

1EZF , 3ASX , 3LEE , 3Q2Z , 3Q30 , 3V66 , 3VJ8 , 3VJ9 , 3VJA , 3VJB , 3VJC , 3WC9 , 3WCD , 3WCF , 3WCH , 3WCI , 3WCJ , 3WCL , 3WCM , 3WEF , 3WEG , 3WEH , 3WEI , 3WEJ , 3WEK , 3WSA , 6PYJ , 6PYV , 6PYW , 6PZ5 , 8WTQ , 8WTR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00494	SQS_PSY	47 → 320		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:29909962}.

Sequence

MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQA
LDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQ
VLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVG
IGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYV
KKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATL
AACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTR
QIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH

Sequence length

417

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Cholesterol biosynthesis PPARA activates gene expression Activation of gene expression by SREBF (SREBP)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Squalene synthase deficiency	Likely pathogenic	rs1563339323, rs1563290033, rs1810791017	RCV000714474 RCV000714475 RCV001291717	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FDFT1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOPENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	9770500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25152164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34513998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19054015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	16440058, 31231834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35477128	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35794546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34740325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	BEFREE	11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26153245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	21945151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35926094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	40432442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23275357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26469958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29159775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29159775		★★★★★ ★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Greenberg dysplasia	BEFREE	11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	19054015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	LHGDN	19054015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29710800, 31125877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	26922723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21945151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29909962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratolytic winter erythema	Keratolytic Winter Erythema	BEFREE	21945151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21147110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASCAT_DG	20708005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35188103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28651595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25152164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22546838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17483544, 30468409		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31005714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25152164, 30468409, 9770500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20708005, 23870067		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASDB_DG	20708005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	20708005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	19245693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	19245693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	29909962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22546838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17483544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17483544, 30271587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	10947201, 11592808		★★★★★ ★☆☆☆☆ Found in Text Mining only
SQUALENE SYNTHASE DEFICIENCY	SQUALENE SYNTHASE DEFICIENCY	CLINVAR_DG	29909962		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	23275357, 23870067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual Cortex Disorder	Visual cortex disease	GENOMICS_ENGLAND_DG	29909962		★★★★★ ★☆☆☆☆ Found in Text Mining only

FDFT1 (farnesyl-diphosphate farnesyltransferase 1)