GRHL1 (grainyhead like transcription factor 1)

Gene

• Entrez ID: 29841
• Gene name: Grainyhead like transcription factor 1
• Gene symbol: GRHL1
• Synonyms (NCBI Gene): LBP32, MGR, NH32, TFCP2L2
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026212	hsa-miR-192-5p	Microarray	19074876
MIRT437584	hsa-miR-125a-5p	Microarray, qRT-PCR	22815788
MIRT437754	hsa-miR-99a-5p	Microarray, qRT-PCR	22815788
MIRT437755	hsa-miR-99b-5p	Microarray, qRT-PCR	22815788
MIRT437756	hsa-miR-100-5p	Microarray, qRT-PCR	22815788
MIRT721325	hsa-miR-1183	HITS-CLIP	19536157
MIRT721324	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT721323	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT721322	hsa-miR-1-5p	HITS-CLIP	19536157
MIRT721321	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT721320	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721319	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT721325	hsa-miR-1183	HITS-CLIP	19536157
MIRT721324	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT721323	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT721322	hsa-miR-1-5p	HITS-CLIP	19536157
MIRT721321	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT721320	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721319	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT1033767	hsa-miR-100	CLIP-seq
MIRT1033768	hsa-miR-125a-3p	CLIP-seq
MIRT1033769	hsa-miR-125b	CLIP-seq
MIRT1033770	hsa-miR-1273d	CLIP-seq
MIRT1033771	hsa-miR-142-3p	CLIP-seq
MIRT1033772	hsa-miR-144	CLIP-seq
MIRT1033773	hsa-miR-148a	CLIP-seq
MIRT1033774	hsa-miR-148b	CLIP-seq
MIRT1033775	hsa-miR-152	CLIP-seq
MIRT1033776	hsa-miR-1827	CLIP-seq
MIRT1033777	hsa-miR-190	CLIP-seq
MIRT1033778	hsa-miR-190b	CLIP-seq
MIRT1033779	hsa-miR-192	CLIP-seq
MIRT1033780	hsa-miR-199a-3p	CLIP-seq
MIRT1033781	hsa-miR-199b-3p	CLIP-seq
MIRT1033782	hsa-miR-2053	CLIP-seq
MIRT1033783	hsa-miR-215	CLIP-seq
MIRT1033784	hsa-miR-25	CLIP-seq
MIRT1033785	hsa-miR-2682	CLIP-seq
MIRT1033786	hsa-miR-297	CLIP-seq
MIRT1033787	hsa-miR-298	CLIP-seq
MIRT1033788	hsa-miR-299-5p	CLIP-seq
MIRT1033789	hsa-miR-300	CLIP-seq
MIRT1033790	hsa-miR-302a	CLIP-seq
MIRT1033791	hsa-miR-302b	CLIP-seq
MIRT1033792	hsa-miR-302c	CLIP-seq
MIRT1033793	hsa-miR-302d	CLIP-seq
MIRT1033794	hsa-miR-302e	CLIP-seq
MIRT1033795	hsa-miR-3129-5p	CLIP-seq
MIRT1033796	hsa-miR-3136-5p	CLIP-seq
MIRT1033797	hsa-miR-3148	CLIP-seq
MIRT1033798	hsa-miR-3163	CLIP-seq
MIRT1033799	hsa-miR-3164	CLIP-seq
MIRT1033800	hsa-miR-32	CLIP-seq
MIRT1033801	hsa-miR-340	CLIP-seq
MIRT1033802	hsa-miR-345	CLIP-seq
MIRT1033803	hsa-miR-34a	CLIP-seq
MIRT1033804	hsa-miR-34c-5p	CLIP-seq
MIRT1033805	hsa-miR-3613-3p	CLIP-seq
MIRT1033806	hsa-miR-3613-5p	CLIP-seq
MIRT1033807	hsa-miR-3617	CLIP-seq
MIRT1033808	hsa-miR-363	CLIP-seq
MIRT1033809	hsa-miR-3664-5p	CLIP-seq
MIRT1033810	hsa-miR-367	CLIP-seq
MIRT1033811	hsa-miR-3673	CLIP-seq
MIRT1033812	hsa-miR-3682-5p	CLIP-seq
MIRT1033813	hsa-miR-3714	CLIP-seq
MIRT1033814	hsa-miR-372	CLIP-seq
MIRT1033815	hsa-miR-373	CLIP-seq
MIRT1033816	hsa-miR-381	CLIP-seq
MIRT1033817	hsa-miR-3919	CLIP-seq
MIRT1033818	hsa-miR-3934	CLIP-seq
MIRT1033819	hsa-miR-3978	CLIP-seq
MIRT1033820	hsa-miR-410	CLIP-seq
MIRT1033821	hsa-miR-412	CLIP-seq
MIRT1033822	hsa-miR-4255	CLIP-seq
MIRT1033823	hsa-miR-4282	CLIP-seq
MIRT1033824	hsa-miR-4316	CLIP-seq
MIRT1033825	hsa-miR-4319	CLIP-seq
MIRT1033826	hsa-miR-432	CLIP-seq
MIRT1033827	hsa-miR-4321	CLIP-seq
MIRT1033828	hsa-miR-4325	CLIP-seq
MIRT1033829	hsa-miR-433	CLIP-seq
MIRT1033830	hsa-miR-4436b-5p	CLIP-seq
MIRT1033831	hsa-miR-4439	CLIP-seq
MIRT1033832	hsa-miR-4452	CLIP-seq
MIRT1033833	hsa-miR-449a	CLIP-seq
MIRT1033834	hsa-miR-449b	CLIP-seq
MIRT1033835	hsa-miR-449c	CLIP-seq
MIRT1033836	hsa-miR-4513	CLIP-seq
MIRT1033837	hsa-miR-4522	CLIP-seq
MIRT1033838	hsa-miR-455-3p	CLIP-seq
MIRT1033839	hsa-miR-4639-3p	CLIP-seq
MIRT1033840	hsa-miR-4643	CLIP-seq
MIRT1033841	hsa-miR-4653-3p	CLIP-seq
MIRT1033842	hsa-miR-4659a-3p	CLIP-seq
MIRT1033843	hsa-miR-4659b-3p	CLIP-seq
MIRT1033844	hsa-miR-466	CLIP-seq
MIRT1033845	hsa-miR-4661-5p	CLIP-seq
MIRT1033846	hsa-miR-4666-3p	CLIP-seq
MIRT1033847	hsa-miR-4680-3p	CLIP-seq
MIRT1033848	hsa-miR-4686	CLIP-seq
MIRT1033849	hsa-miR-4724-5p	CLIP-seq
MIRT1033850	hsa-miR-4732-3p	CLIP-seq
MIRT1033851	hsa-miR-4744	CLIP-seq
MIRT1033852	hsa-miR-4764-3p	CLIP-seq
MIRT1033853	hsa-miR-4781-5p	CLIP-seq
MIRT1033854	hsa-miR-4789-3p	CLIP-seq
MIRT1033855	hsa-miR-495	CLIP-seq
MIRT1033856	hsa-miR-519a	CLIP-seq
MIRT1033857	hsa-miR-519b-3p	CLIP-seq
MIRT1033858	hsa-miR-519c-3p	CLIP-seq
MIRT1033859	hsa-miR-520a-3p	CLIP-seq
MIRT1033860	hsa-miR-520b	CLIP-seq
MIRT1033861	hsa-miR-520c-3p	CLIP-seq
MIRT1033862	hsa-miR-520d-3p	CLIP-seq
MIRT1033863	hsa-miR-520e	CLIP-seq
MIRT1033864	hsa-miR-539	CLIP-seq
MIRT1033865	hsa-miR-548aa	CLIP-seq
MIRT1033866	hsa-miR-548an	CLIP-seq
MIRT1033867	hsa-miR-567	CLIP-seq
MIRT1033868	hsa-miR-579	CLIP-seq
MIRT1033869	hsa-miR-582-5p	CLIP-seq
MIRT1033870	hsa-miR-606	CLIP-seq
MIRT1033871	hsa-miR-618	CLIP-seq
MIRT1033872	hsa-miR-630	CLIP-seq
MIRT1033873	hsa-miR-634	CLIP-seq
MIRT1033874	hsa-miR-641	CLIP-seq
MIRT1033875	hsa-miR-660	CLIP-seq
MIRT1033876	hsa-miR-670	CLIP-seq
MIRT1033877	hsa-miR-764	CLIP-seq
MIRT1033878	hsa-miR-92a	CLIP-seq
MIRT1033879	hsa-miR-92b	CLIP-seq
MIRT1033880	hsa-miR-99a	CLIP-seq
MIRT1033881	hsa-miR-99b	CLIP-seq
MIRT1033771	hsa-miR-142-3p	CLIP-seq
MIRT1033773	hsa-miR-148a	CLIP-seq
MIRT1033774	hsa-miR-148b	CLIP-seq
MIRT1033775	hsa-miR-152	CLIP-seq
MIRT1033779	hsa-miR-192	CLIP-seq
MIRT1033780	hsa-miR-199a-3p	CLIP-seq
MIRT1033781	hsa-miR-199b-3p	CLIP-seq
MIRT1033782	hsa-miR-2053	CLIP-seq
MIRT1033783	hsa-miR-215	CLIP-seq
MIRT1033787	hsa-miR-298	CLIP-seq
MIRT1033789	hsa-miR-300	CLIP-seq
MIRT1033790	hsa-miR-302a	CLIP-seq
MIRT1033791	hsa-miR-302b	CLIP-seq
MIRT1033792	hsa-miR-302c	CLIP-seq
MIRT1033793	hsa-miR-302d	CLIP-seq
MIRT1033794	hsa-miR-302e	CLIP-seq
MIRT2006602	hsa-miR-3074-3p	CLIP-seq
MIRT1033795	hsa-miR-3129-5p	CLIP-seq
MIRT1033814	hsa-miR-372	CLIP-seq
MIRT1033815	hsa-miR-373	CLIP-seq
MIRT1033816	hsa-miR-381	CLIP-seq
MIRT1033821	hsa-miR-412	CLIP-seq
MIRT1033822	hsa-miR-4255	CLIP-seq
MIRT1033823	hsa-miR-4282	CLIP-seq
MIRT1033838	hsa-miR-455-3p	CLIP-seq
MIRT1033839	hsa-miR-4639-3p	CLIP-seq
MIRT1033842	hsa-miR-4659a-3p	CLIP-seq
MIRT1033843	hsa-miR-4659b-3p	CLIP-seq
MIRT1033846	hsa-miR-4666-3p	CLIP-seq
MIRT2006603	hsa-miR-4672	CLIP-seq
MIRT2006604	hsa-miR-4803	CLIP-seq
MIRT1033856	hsa-miR-519a	CLIP-seq
MIRT1033857	hsa-miR-519b-3p	CLIP-seq
MIRT1033858	hsa-miR-519c-3p	CLIP-seq
MIRT1033859	hsa-miR-520a-3p	CLIP-seq
MIRT1033860	hsa-miR-520b	CLIP-seq
MIRT1033861	hsa-miR-520c-3p	CLIP-seq
MIRT1033862	hsa-miR-520d-3p	CLIP-seq
MIRT1033863	hsa-miR-520e	CLIP-seq
MIRT1033865	hsa-miR-548aa	CLIP-seq
MIRT1033868	hsa-miR-579	CLIP-seq
MIRT1033869	hsa-miR-582-5p	CLIP-seq
MIRT1033870	hsa-miR-606	CLIP-seq
MIRT1033873	hsa-miR-634	CLIP-seq
MIRT2006605	hsa-miR-873	CLIP-seq
MIRT2239008	hsa-miR-1253	CLIP-seq
MIRT2239009	hsa-miR-1263	CLIP-seq
MIRT1033770	hsa-miR-1273d	CLIP-seq
MIRT2239010	hsa-miR-1281	CLIP-seq
MIRT2239011	hsa-miR-1301	CLIP-seq
MIRT1033776	hsa-miR-1827	CLIP-seq
MIRT2239012	hsa-miR-185	CLIP-seq
MIRT1033779	hsa-miR-192	CLIP-seq
MIRT1033783	hsa-miR-215	CLIP-seq
MIRT2239013	hsa-miR-217	CLIP-seq
MIRT2239014	hsa-miR-2276	CLIP-seq
MIRT1033784	hsa-miR-25	CLIP-seq
MIRT1033785	hsa-miR-2682	CLIP-seq
MIRT1033786	hsa-miR-297	CLIP-seq
MIRT1033789	hsa-miR-300	CLIP-seq
MIRT1033790	hsa-miR-302a	CLIP-seq
MIRT1033791	hsa-miR-302b	CLIP-seq
MIRT1033792	hsa-miR-302c	CLIP-seq
MIRT1033793	hsa-miR-302d	CLIP-seq
MIRT1033794	hsa-miR-302e	CLIP-seq
MIRT1033796	hsa-miR-3136-5p	CLIP-seq
MIRT2239015	hsa-miR-3165	CLIP-seq
MIRT1033800	hsa-miR-32	CLIP-seq
MIRT1033802	hsa-miR-345	CLIP-seq
MIRT1033803	hsa-miR-34a	CLIP-seq
MIRT2239016	hsa-miR-34c-3p	CLIP-seq
MIRT1033804	hsa-miR-34c-5p	CLIP-seq
MIRT1033805	hsa-miR-3613-3p	CLIP-seq
MIRT1033806	hsa-miR-3613-5p	CLIP-seq
MIRT2239017	hsa-miR-3614-5p	CLIP-seq
MIRT1033807	hsa-miR-3617	CLIP-seq
MIRT2239018	hsa-miR-3622a-5p	CLIP-seq
MIRT1033808	hsa-miR-363	CLIP-seq
MIRT1033810	hsa-miR-367	CLIP-seq
MIRT1033813	hsa-miR-3714	CLIP-seq
MIRT1033814	hsa-miR-372	CLIP-seq
MIRT1033815	hsa-miR-373	CLIP-seq
MIRT1033816	hsa-miR-381	CLIP-seq
MIRT2239019	hsa-miR-3914	CLIP-seq
MIRT2239020	hsa-miR-3938	CLIP-seq
MIRT1033820	hsa-miR-410	CLIP-seq
MIRT1033821	hsa-miR-412	CLIP-seq
MIRT2239021	hsa-miR-4256	CLIP-seq
MIRT2239022	hsa-miR-4269	CLIP-seq
MIRT2239023	hsa-miR-4306	CLIP-seq
MIRT1033824	hsa-miR-4316	CLIP-seq
MIRT1033828	hsa-miR-4325	CLIP-seq
MIRT2239024	hsa-miR-4418	CLIP-seq
MIRT2239025	hsa-miR-4423-3p	CLIP-seq
MIRT2239026	hsa-miR-4432	CLIP-seq
MIRT1033831	hsa-miR-4439	CLIP-seq
MIRT2239027	hsa-miR-4444	CLIP-seq
MIRT1033832	hsa-miR-4452	CLIP-seq
MIRT2239028	hsa-miR-4456	CLIP-seq
MIRT2239029	hsa-miR-4457	CLIP-seq
MIRT2239030	hsa-miR-448	CLIP-seq
MIRT1033833	hsa-miR-449a	CLIP-seq
MIRT1033834	hsa-miR-449b	CLIP-seq
MIRT1033835	hsa-miR-449c	CLIP-seq
MIRT1033836	hsa-miR-4513	CLIP-seq
MIRT2239031	hsa-miR-4514	CLIP-seq
MIRT1033838	hsa-miR-455-3p	CLIP-seq
MIRT1033839	hsa-miR-4639-3p	CLIP-seq
MIRT1033840	hsa-miR-4643	CLIP-seq
MIRT2239032	hsa-miR-4644	CLIP-seq
MIRT1033841	hsa-miR-4653-3p	CLIP-seq
MIRT1033842	hsa-miR-4659a-3p	CLIP-seq
MIRT1033843	hsa-miR-4659b-3p	CLIP-seq
MIRT1033844	hsa-miR-466	CLIP-seq
MIRT2239033	hsa-miR-4660	CLIP-seq
MIRT1033846	hsa-miR-4666-3p	CLIP-seq
MIRT2006603	hsa-miR-4672	CLIP-seq
MIRT1033847	hsa-miR-4680-3p	CLIP-seq
MIRT2239034	hsa-miR-4692	CLIP-seq
MIRT2239035	hsa-miR-4693-3p	CLIP-seq
MIRT2239036	hsa-miR-4708-3p	CLIP-seq
MIRT1033849	hsa-miR-4724-5p	CLIP-seq
MIRT2239037	hsa-miR-4733-5p	CLIP-seq
MIRT2239038	hsa-miR-4742-5p	CLIP-seq
MIRT2239039	hsa-miR-4756-3p	CLIP-seq
MIRT2239040	hsa-miR-4762-3p	CLIP-seq
MIRT1033854	hsa-miR-4789-3p	CLIP-seq
MIRT2006604	hsa-miR-4803	CLIP-seq
MIRT2239041	hsa-miR-499-5p	CLIP-seq
MIRT2239042	hsa-miR-5047	CLIP-seq
MIRT2239043	hsa-miR-509-3-5p	CLIP-seq
MIRT2239044	hsa-miR-509-5p	CLIP-seq
MIRT1033856	hsa-miR-519a	CLIP-seq
MIRT1033857	hsa-miR-519b-3p	CLIP-seq
MIRT1033858	hsa-miR-519c-3p	CLIP-seq
MIRT1033859	hsa-miR-520a-3p	CLIP-seq
MIRT1033860	hsa-miR-520b	CLIP-seq
MIRT1033861	hsa-miR-520c-3p	CLIP-seq
MIRT1033862	hsa-miR-520d-3p	CLIP-seq
MIRT1033863	hsa-miR-520e	CLIP-seq
MIRT2239045	hsa-miR-550b	CLIP-seq
MIRT1033867	hsa-miR-567	CLIP-seq
MIRT1033868	hsa-miR-579	CLIP-seq
MIRT2239046	hsa-miR-580	CLIP-seq
MIRT1033870	hsa-miR-606	CLIP-seq
MIRT2239047	hsa-miR-616	CLIP-seq
MIRT2239048	hsa-miR-617	CLIP-seq
MIRT1033874	hsa-miR-641	CLIP-seq
MIRT1033875	hsa-miR-660	CLIP-seq
MIRT1033878	hsa-miR-92a	CLIP-seq
MIRT1033879	hsa-miR-92b	CLIP-seq
MIRT1033785	hsa-miR-2682	CLIP-seq
MIRT1033835	hsa-miR-449c	CLIP-seq
MIRT1033771	hsa-miR-142-3p	CLIP-seq
MIRT1033773	hsa-miR-148a	CLIP-seq
MIRT1033774	hsa-miR-148b	CLIP-seq
MIRT1033775	hsa-miR-152	CLIP-seq
MIRT1033780	hsa-miR-199a-3p	CLIP-seq
MIRT1033781	hsa-miR-199b-3p	CLIP-seq
MIRT1033782	hsa-miR-2053	CLIP-seq
MIRT1033787	hsa-miR-298	CLIP-seq
MIRT1033795	hsa-miR-3129-5p	CLIP-seq
MIRT1033812	hsa-miR-3682-5p	CLIP-seq
MIRT2543027	hsa-miR-421	CLIP-seq
MIRT1033822	hsa-miR-4255	CLIP-seq
MIRT1033845	hsa-miR-4661-5p	CLIP-seq
MIRT2543028	hsa-miR-4709-5p	CLIP-seq
MIRT1033855	hsa-miR-495	CLIP-seq
MIRT2543029	hsa-miR-513c	CLIP-seq
MIRT2543030	hsa-miR-514b-5p	CLIP-seq
MIRT2543031	hsa-miR-543	CLIP-seq
MIRT1033868	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC3	Repression	24419085
MYCN	Repression	24419085

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18288204
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12175488
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12175488
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	29309642
GO:0002934	Process	Desmosome organization	IEA
GO:0003677	Function	DNA binding	IDA	12175488
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	12175488
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12175488, 28514442, 29309642, 33961781, 35013237
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18288204, 21081122, 35013237
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12175488
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS
GO:0031490	Function	Chromatin DNA binding	IDA	21081122
GO:0042802	Function	Identical protein binding	IPI	12175488
GO:0042803	Function	Protein homodimerization activity	IPI	29309642
GO:0043565	Function	Sequence-specific DNA binding	IDA	18288204
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045616	Process	Regulation of keratinocyte differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12175488, 35013237
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	29309642
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	35013237
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 609786
• HGNC: 17923
• e!Ensembl: ENSG00000134317

Protein

• UniProt ID: Q9NZI5
• Protein name: Grainyhead-like protein 1 homolog (Mammalian grainyhead) (NH32) (Transcription factor CP2-like 2) (Transcription factor LBP-32)
• Protein function: Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal
• PDB: 5MPF, 5MPH, 5MPI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04516	CP2	231 → 442	CP2 transcription factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells. {ECO:0000269|PubMed:10644752, ECO:0000269|PubMed:
• Sequence:

  MTQEYDNKRPVLVLQNEALYPQRRSYTSEDEAWKSFLENPLTAATKAMMSINGDEDSAAA
  LGLLYDYYKVPRERRSSTAKPEVEHPEPDHSKRNSIPIVTEQPLISAGENRVQVLKNVPF
  NIVLPHGNQLGIDKRGHLTAPDTTVTVSIATMPTHSIKTETQPHGFAVGIPPAVYHPEPT
  ERVVVFDRNLNTDQFSSGAQAPNAQRRTPDSTFSETFKEGVQEVFFPSDLSLRMPGMNSE
  DYVFDSVSGNNFEYTLEASKSLRQKPGDSTMTYLNKGQFYPITLKEVSSSEGIHHPISKV
  RSVIMVVFAEDKSREDQLRHWKYWHSRQHTAKQRCIDIADYKESFNTISNIEEIAYNAIS
  FTWDINDEAKVFISVNCLSTDFSSQKGVKGLPLNIQVDTYSYNNRSNKPVHRAYCQIKVF
  CDKGAERKIRDEERKQSKRKVSDVKVPLLPSHKRMDITVFKPFIDLDTQPVLFIPDVHFA
  NLQRGTHVLPIASEELEGEGSVLKRGPYGTEDDFAVPPSTKLARIEEPKRVLLYVRKESE
  EVFDALMLKTPSLKGLMEAISDKYDVPHDKIGKIFKKCKKGILVNMDDNIVKHYSNEDTF
  QLQIEEAGGSYKLTLTEI

• Sequence length: 618

Pathways

Reactome:

PPARA activates gene expression

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	1534386		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	8769953		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28543713		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	BEFREE	27782736		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	27790247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	27782736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	23535732		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	27790247		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28714958, 8769953		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	1534386		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29544512		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1534386, 24419085, 29301499, 8769953		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24419085		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	23535732, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26068399, 36095024	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	29301499	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30944626		★☆☆☆☆ Found in Text Mining only