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	9440
Gene name	Mediator complex subunit 17
Gene symbol	MED17
Synonyms (NCBI Gene)	CRSP6CRSP77DRIP80SRB4TRAP80
Chromosome	11
Chromosome location	11q21
Summary	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. T

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35313315	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267607232	T>C	Pathogenic	Coding sequence variant, missense variant
rs587780394	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs752341132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1356392449	G>A	Likely-pathogenic	Missense variant, coding sequence variant

277

Show/Hide all (277)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045353	hsa-miR-185-5p	CLASH	23622248
MIRT672491	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT670986	hsa-miR-3929	HITS-CLIP	23824327
MIRT670985	hsa-miR-4419b	HITS-CLIP	23824327
MIRT670984	hsa-miR-4478	HITS-CLIP	23824327
MIRT670983	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT670982	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT670981	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT670980	hsa-miR-612	HITS-CLIP	23824327
MIRT670979	hsa-miR-6860	HITS-CLIP	23824327
MIRT670978	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT670977	hsa-miR-4284	HITS-CLIP	23824327
MIRT670976	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670975	hsa-miR-4505	HITS-CLIP	23824327
MIRT670974	hsa-miR-5787	HITS-CLIP	23824327
MIRT670973	hsa-miR-3945	HITS-CLIP	23824327
MIRT670972	hsa-miR-4253	HITS-CLIP	23824327
MIRT670971	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT670986	hsa-miR-3929	HITS-CLIP	23824327
MIRT670985	hsa-miR-4419b	HITS-CLIP	23824327
MIRT670984	hsa-miR-4478	HITS-CLIP	23824327
MIRT670983	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT670982	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT670981	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT670980	hsa-miR-612	HITS-CLIP	23824327
MIRT670979	hsa-miR-6860	HITS-CLIP	23824327
MIRT670978	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT670977	hsa-miR-4284	HITS-CLIP	23824327
MIRT670976	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670975	hsa-miR-4505	HITS-CLIP	23824327
MIRT670974	hsa-miR-5787	HITS-CLIP	23824327
MIRT670973	hsa-miR-3945	HITS-CLIP	23824327
MIRT670972	hsa-miR-4253	HITS-CLIP	23824327
MIRT670971	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT061198	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT061182	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT061183	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT061180	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT061185	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT061181	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT061202	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT061193	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT061214	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT061184	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT061192	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT061198	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT061182	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT061183	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT061180	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT061185	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT061202	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT061193	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT061210	hsa-miR-3609	PAR-CLIP	21572407
MIRT061211	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT556143	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT556142	hsa-miR-5692a	PAR-CLIP	21572407
MIRT061186	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT061187	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT061188	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT061189	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT061208	hsa-miR-302e	PAR-CLIP	21572407
MIRT061190	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT061191	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT061197	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT061200	hsa-miR-520b	PAR-CLIP	21572407
MIRT061201	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT061203	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT061195	hsa-miR-520e	PAR-CLIP	21572407
MIRT132244	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT061212	hsa-miR-4729	PAR-CLIP	21572407
MIRT061206	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT061215	hsa-miR-5696	PAR-CLIP	21572407
MIRT061194	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT556141	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT061185	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT061181	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT061185	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT061180	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT061193	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT061182	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT061202	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT061181	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT672491	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT670986	hsa-miR-3929	HITS-CLIP	23824327
MIRT670985	hsa-miR-4419b	HITS-CLIP	23824327
MIRT670984	hsa-miR-4478	HITS-CLIP	23824327
MIRT670983	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT670982	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT670981	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT670980	hsa-miR-612	HITS-CLIP	23824327
MIRT670979	hsa-miR-6860	HITS-CLIP	23824327
MIRT670978	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT670977	hsa-miR-4284	HITS-CLIP	23824327
MIRT670976	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670975	hsa-miR-4505	HITS-CLIP	23824327
MIRT670974	hsa-miR-5787	HITS-CLIP	23824327
MIRT670973	hsa-miR-3945	HITS-CLIP	23824327
MIRT670972	hsa-miR-4253	HITS-CLIP	23824327
MIRT670971	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT670986	hsa-miR-3929	HITS-CLIP	23824327
MIRT670985	hsa-miR-4419b	HITS-CLIP	23824327
MIRT670984	hsa-miR-4478	HITS-CLIP	23824327
MIRT670983	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT670982	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT670981	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT670980	hsa-miR-612	HITS-CLIP	23824327
MIRT670979	hsa-miR-6860	HITS-CLIP	23824327
MIRT670978	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT670977	hsa-miR-4284	HITS-CLIP	23824327
MIRT670976	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670975	hsa-miR-4505	HITS-CLIP	23824327
MIRT670974	hsa-miR-5787	HITS-CLIP	23824327
MIRT670973	hsa-miR-3945	HITS-CLIP	23824327
MIRT670972	hsa-miR-4253	HITS-CLIP	23824327
MIRT670971	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT061198	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT061182	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT061183	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT061180	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT061185	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT061181	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT061202	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT061193	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT061214	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT061184	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT061192	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT061198	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT061182	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT061183	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT061180	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT061185	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT061202	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT061193	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT061210	hsa-miR-3609	PAR-CLIP	21572407
MIRT061211	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT556143	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT556142	hsa-miR-5692a	PAR-CLIP	21572407
MIRT061186	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT061187	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT061188	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT061189	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT061208	hsa-miR-302e	PAR-CLIP	21572407
MIRT061190	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT061191	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT061197	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT061200	hsa-miR-520b	PAR-CLIP	21572407
MIRT061201	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT061203	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT061195	hsa-miR-520e	PAR-CLIP	21572407
MIRT132244	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT061212	hsa-miR-4729	PAR-CLIP	21572407
MIRT061206	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT061215	hsa-miR-5696	PAR-CLIP	21572407
MIRT061194	hsa-miR-488-3p	PAR-CLIP	21572407
MIRT556141	hsa-miR-510-3p	PAR-CLIP	21572407
MIRT1141079	hsa-miR-106a	CLIP-seq
MIRT1141080	hsa-miR-106b	CLIP-seq
MIRT1141081	hsa-miR-1236	CLIP-seq
MIRT1141082	hsa-miR-1273g	CLIP-seq
MIRT1141083	hsa-miR-1285	CLIP-seq
MIRT1141084	hsa-miR-1303	CLIP-seq
MIRT1141085	hsa-miR-17	CLIP-seq
MIRT1141086	hsa-miR-20a	CLIP-seq
MIRT1141087	hsa-miR-20b	CLIP-seq
MIRT1141088	hsa-miR-24	CLIP-seq
MIRT1141089	hsa-miR-302a	CLIP-seq
MIRT1141090	hsa-miR-302b	CLIP-seq
MIRT1141091	hsa-miR-302c	CLIP-seq
MIRT1141092	hsa-miR-302d	CLIP-seq
MIRT1141093	hsa-miR-3122	CLIP-seq
MIRT1141094	hsa-miR-3190	CLIP-seq
MIRT1141095	hsa-miR-3202	CLIP-seq
MIRT1141096	hsa-miR-323b-5p	CLIP-seq
MIRT1141097	hsa-miR-3675-3p	CLIP-seq
MIRT1141098	hsa-miR-3689a-3p	CLIP-seq
MIRT1141099	hsa-miR-3689c	CLIP-seq
MIRT1141100	hsa-miR-372	CLIP-seq
MIRT1141101	hsa-miR-373	CLIP-seq
MIRT1141102	hsa-miR-3913-5p	CLIP-seq
MIRT1141103	hsa-miR-3927	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT1141105	hsa-miR-4533	CLIP-seq
MIRT1141106	hsa-miR-4662a-5p	CLIP-seq
MIRT1141107	hsa-miR-4670-3p	CLIP-seq
MIRT1141108	hsa-miR-4676-5p	CLIP-seq
MIRT1141109	hsa-miR-4728-5p	CLIP-seq
MIRT1141110	hsa-miR-4736	CLIP-seq
MIRT1141111	hsa-miR-4755-3p	CLIP-seq
MIRT1141112	hsa-miR-4778-3p	CLIP-seq
MIRT1141113	hsa-miR-488	CLIP-seq
MIRT1141114	hsa-miR-500a	CLIP-seq
MIRT1141115	hsa-miR-519d	CLIP-seq
MIRT1141116	hsa-miR-548ac	CLIP-seq
MIRT1141117	hsa-miR-548ae	CLIP-seq
MIRT1141118	hsa-miR-548aj	CLIP-seq
MIRT1141119	hsa-miR-548am	CLIP-seq
MIRT1141120	hsa-miR-548d-3p	CLIP-seq
MIRT1141121	hsa-miR-548x	CLIP-seq
MIRT1141122	hsa-miR-548z	CLIP-seq
MIRT1141123	hsa-miR-561	CLIP-seq
MIRT1141124	hsa-miR-575	CLIP-seq
MIRT1141125	hsa-miR-93	CLIP-seq
MIRT1141126	hsa-miR-940	CLIP-seq
MIRT1551203	hsa-miR-1183	CLIP-seq
MIRT1551204	hsa-miR-300	CLIP-seq
MIRT1551205	hsa-miR-3655	CLIP-seq
MIRT1551206	hsa-miR-381	CLIP-seq
MIRT1551207	hsa-miR-4666-3p	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT1141081	hsa-miR-1236	CLIP-seq
MIRT2269820	hsa-miR-1275	CLIP-seq
MIRT1141083	hsa-miR-1285	CLIP-seq
MIRT2269821	hsa-miR-2113	CLIP-seq
MIRT2269822	hsa-miR-218	CLIP-seq
MIRT2269823	hsa-miR-2276	CLIP-seq
MIRT2269824	hsa-miR-3148	CLIP-seq
MIRT2269825	hsa-miR-3192	CLIP-seq
MIRT2269826	hsa-miR-330-3p	CLIP-seq
MIRT1141097	hsa-miR-3675-3p	CLIP-seq
MIRT2269827	hsa-miR-3688-3p	CLIP-seq
MIRT1141098	hsa-miR-3689a-3p	CLIP-seq
MIRT1141099	hsa-miR-3689c	CLIP-seq
MIRT2269828	hsa-miR-4260	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT2269829	hsa-miR-4418	CLIP-seq
MIRT2269830	hsa-miR-4665-5p	CLIP-seq
MIRT2269831	hsa-miR-4668-5p	CLIP-seq
MIRT1141109	hsa-miR-4728-5p	CLIP-seq
MIRT2269832	hsa-miR-4772-3p	CLIP-seq
MIRT1141112	hsa-miR-4778-3p	CLIP-seq
MIRT2269833	hsa-miR-4802-3p	CLIP-seq
MIRT1141114	hsa-miR-500a	CLIP-seq
MIRT2269834	hsa-miR-509-3-5p	CLIP-seq
MIRT2269835	hsa-miR-509-5p	CLIP-seq
MIRT2269836	hsa-miR-544	CLIP-seq
MIRT2269837	hsa-miR-548l	CLIP-seq
MIRT2269838	hsa-miR-607	CLIP-seq
MIRT2269839	hsa-miR-616	CLIP-seq
MIRT2269840	hsa-miR-625	CLIP-seq
MIRT2269841	hsa-miR-636	CLIP-seq
MIRT2269842	hsa-miR-661	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT1141093	hsa-miR-3122	CLIP-seq
MIRT2568973	hsa-miR-3163	CLIP-seq
MIRT2568974	hsa-miR-340	CLIP-seq
MIRT2568975	hsa-miR-3613-3p	CLIP-seq
MIRT1141098	hsa-miR-3689a-3p	CLIP-seq
MIRT1141099	hsa-miR-3689c	CLIP-seq
MIRT2568976	hsa-miR-371-5p	CLIP-seq
MIRT2568977	hsa-miR-371b-5p	CLIP-seq
MIRT1141102	hsa-miR-3913-5p	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT2269829	hsa-miR-4418	CLIP-seq
MIRT1141106	hsa-miR-4662a-5p	CLIP-seq
MIRT1141108	hsa-miR-4676-5p	CLIP-seq
MIRT1141109	hsa-miR-4728-5p	CLIP-seq
MIRT1141110	hsa-miR-4736	CLIP-seq
MIRT1141111	hsa-miR-4755-3p	CLIP-seq
MIRT2568978	hsa-miR-4797-5p	CLIP-seq
MIRT1141114	hsa-miR-500a	CLIP-seq
MIRT2269834	hsa-miR-509-3-5p	CLIP-seq
MIRT2269835	hsa-miR-509-5p	CLIP-seq
MIRT2568979	hsa-miR-511	CLIP-seq
MIRT1141124	hsa-miR-575	CLIP-seq
MIRT2568980	hsa-miR-759	CLIP-seq
MIRT1141126	hsa-miR-940	CLIP-seq
MIRT2269825	hsa-miR-3192	CLIP-seq
MIRT2568975	hsa-miR-3613-3p	CLIP-seq
MIRT1141098	hsa-miR-3689a-3p	CLIP-seq
MIRT1141099	hsa-miR-3689c	CLIP-seq
MIRT2568976	hsa-miR-371-5p	CLIP-seq
MIRT2568977	hsa-miR-371b-5p	CLIP-seq
MIRT1141104	hsa-miR-4281	CLIP-seq
MIRT1141109	hsa-miR-4728-5p	CLIP-seq
MIRT2568978	hsa-miR-4797-5p	CLIP-seq
MIRT2269842	hsa-miR-661	CLIP-seq
MIRT2568980	hsa-miR-759	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003712	Function	Transcription coregulator activity	IDA	10198638
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	12037571, 12218053
GO:0003713	Function	Transcription coactivator activity	TAS	9989412
GO:0005515	Function	Protein binding	IPI	12584197, 24882805, 24981860, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	10235267, 24882805
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	9989412
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9989412
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9989412
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	TAS	9989412
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016592	Component	Mediator complex	IBA
GO:0016592	Component	Mediator complex	IDA	10198638, 12037571, 14638676
GO:0016592	Component	Mediator complex	IEA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	NAS	11559591
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0042809	Function	Nuclear vitamin D receptor binding	NAS	10235266
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10198638
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12037571
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IDA	10198638
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	NAS	11559591
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	12218053
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	NAS	11559591
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070847	Component	Core mediator complex	IBA
GO:0070847	Component	Core mediator complex	IPI	24882805

MIM	HGNC	e!Ensembl
603810	2375	ENSG00000042429

Q9NVC6

Protein name

Mediator of RNA polymerase II transcription subunit 17 (Activator-recruited cofactor 77 kDa component) (ARC77) (Cofactor required for Sp1 transcriptional activation subunit 6) (CRSP complex subunit 6) (Mediator complex subunit 17) (Thyroid hormone recepto

Protein function

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RN

PDB

7EMF , 7ENA , 7ENC , 7ENJ , 7LBM , 7NVR , 8GXQ , 8GXS , 8T9D , 8TQW , 8TRH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10156	Med17	125 → 453	Subunit 17 of Mediator complex	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10198638}.

Sequence

MSGVRAVRISIESACEKQVHEVGLDGTETYLPPLSMSQNLARLAQRIDFSQGSGSEEEEA
AGTEGDAQEWPGAGSSADQDDEEGVVKFQPSLWPWDSVRNNLRSALTEMCVLYDVLSIVR
DKKFMTLDPVSQDALPPKQNPQTLQLISKKKSLAGAAQILLKGAERLTKSVTENQENKLQ
RDFNSELLRLRQHWKLRKVGDKILGDLSYRSAGSLFPHHGTFEVIKNTDLDLDKKIPEDY
CPLDVQIPSDLEGSAYIKVSIQKQAPDIGDLGTVNLFKRPLPKSKPGSPHWQTKLEAAQN
VLLCKEIFAQLSREAVQIKSQVPHIVVKNQIISQPFPSLQLSISLCHSSNDKKSQKFATE
KQCPEDHLYVLEHNLHLLIREFHKQTLSSIMMPHPASAPFGHKRMRLSGPQAFDKNEINS
LQSSEGLLEKIIKQAKHIFLRSRAAATIDSLASRIEDPQIQAHWSNINDVYESSVKVLIT
SQGYEQICKSIQLQLNIGVEQIRVVHRDGRVITLSYQEQELQDFLLSQMSQHQVHAVQQL
AKVMGWQVLSFSNHVGLGPIESIGNASAITVASPSGDYAISVRNGPESGSKIMVQFPRNQ
CKDLPKSDVLQDNKWSHLRGPFKEVQWNKMEGRNFVYKMELLMSALSPCLL

Sequence length

651

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone signaling pathway		PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation

121

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Likely pathogenic; Pathogenic	rs1302840036, rs372097081, rs776884086, rs2135707267, rs767023414, rs1299335718, rs749631821, rs2497522528, rs267607232, rs763249105, rs372622191, rs1943967240, rs746738191	RCV005005915 RCV001780302 RCV002499795 RCV005008302 RCV005008361 RCV005011216 RCV005008764 RCV003230785 RCV000006410 RCV002291292 RCV005005010 RCV001199278 RCV005012616

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7108692	RCV005925167
Cervical cancer	Benign	rs7108692	RCV005925168
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs756882876, rs761959231	RCV001252068 RCV001257653
Lung cancer	Benign	rs7108692	RCV005925171
MED17-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs759268020, rs148912294, rs116727804, rs76149470, rs141529021, rs184914659, rs200765332, rs548231700, rs570654786, rs199995347, rs201376861	RCV004757444 RCV003964984 RCV003977516 RCV003937697 RCV003915782 RCV003922905 RCV003960377 RCV003960560 RCV003897980 RCV003908486 RCV003898261
Microcephaly	Conflicting classifications of pathogenicity	rs548231700	RCV001252810
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs61754525	RCV005892327
Sarcoma	Benign	rs7108692	RCV005925169
Thymoma	Benign	rs7108692	RCV005925170
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs7108692, rs369349413	RCV005925172 RCV005910819

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	33017027
Carcinoma Hepatocellular	Associate	35069777
COVID 19	Associate	35390032
Ectrodactyly cardiopathy dysmorphism	Associate	40113094

MED17 (mediator complex subunit 17)