MED17 (mediator complex subunit 17)

Gene

• Entrez ID: 9440
• Gene name: Mediator complex subunit 17
• Gene symbol: MED17
• Synonyms (NCBI Gene): CRSP6, CRSP77, DRIP80, SRB4, TRAP80
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603810
• HGNC: 2375
• e!Ensembl: ENSG00000042429

Protein

• UniProt ID: 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

Pathways

KEGG:

Thyroid hormone signaling pathway

Reactome:

PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MED17-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	BEFREE	25356967		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	25394174		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33017027	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35069777	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	20950787		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Cerebral And Cerebellar Atrophy With Progressive Microcephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	25527630		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25297947		★☆☆☆☆ Found in Text Mining only
Methylcrotonyl-CoA carboxylase deficiency	Methylcrotonyl-CoA Carboxylase Deficiency	BEFREE	25356967		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30345598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	ORPHANET_DG	20950787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	UNIPROT_DG	20950787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	GENOMICS_ENGLAND_DG	20950787		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations