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	1998
Gene name	E74 like ETS transcription factor 2
Gene symbol	ELF2
Synonyms (NCBI Gene)	EU32NERFNERF-1ANERF-1BNERF-1abNERF-2
Chromosome	4
Chromosome location	4q31.1

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SNP ID	Visualize variation	Clinical significance	Consequence
rs747574524	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

315

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miRTarBase ID	miRNA	Experiments	Reference
MIRT503896	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503895	hsa-miR-567	HITS-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503893	hsa-miR-3924	HITS-CLIP	21572407
MIRT503892	hsa-miR-297	HITS-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	20371350
MIRT508799	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503895	hsa-miR-567	PAR-CLIP	20371350
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503893	hsa-miR-3924	PAR-CLIP	20371350
MIRT503892	hsa-miR-297	PAR-CLIP	20371350
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	23446348
MIRT508800	hsa-miR-3163	PAR-CLIP	23446348
MIRT508799	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508798	hsa-miR-106b-3p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	23446348
MIRT508800	hsa-miR-3163	PAR-CLIP	23446348
MIRT508799	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508798	hsa-miR-106b-3p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503895	hsa-miR-567	HITS-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503893	hsa-miR-3924	HITS-CLIP	21572407
MIRT503892	hsa-miR-297	HITS-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	20371350
MIRT508799	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503895	hsa-miR-567	PAR-CLIP	20371350
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503893	hsa-miR-3924	PAR-CLIP	20371350
MIRT503892	hsa-miR-297	PAR-CLIP	20371350
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508800	hsa-miR-3163	PAR-CLIP	21572407
MIRT508799	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503895	hsa-miR-567	PAR-CLIP	21572407
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503893	hsa-miR-3924	PAR-CLIP	21572407
MIRT503892	hsa-miR-297	PAR-CLIP	21572407
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	23446348
MIRT508800	hsa-miR-3163	PAR-CLIP	23446348
MIRT508799	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508798	hsa-miR-106b-3p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT309295	hsa-miR-4668-3p	PAR-CLIP	23446348
MIRT508800	hsa-miR-3163	PAR-CLIP	23446348
MIRT508799	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508798	hsa-miR-106b-3p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503896	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503895	hsa-miR-567	PAR-CLIP	23446348
MIRT503894	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503893	hsa-miR-3924	PAR-CLIP	23446348
MIRT503892	hsa-miR-297	PAR-CLIP	23446348
MIRT503891	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT959943	hsa-miR-1264	CLIP-seq
MIRT959944	hsa-miR-145	CLIP-seq
MIRT959945	hsa-miR-219-5p	CLIP-seq
MIRT959946	hsa-miR-3149	CLIP-seq
MIRT959947	hsa-miR-3174	CLIP-seq
MIRT959948	hsa-miR-3180-5p	CLIP-seq
MIRT959949	hsa-miR-3613-3p	CLIP-seq
MIRT959950	hsa-miR-3653	CLIP-seq
MIRT959951	hsa-miR-3658	CLIP-seq
MIRT959952	hsa-miR-3660	CLIP-seq
MIRT959953	hsa-miR-3662	CLIP-seq
MIRT959954	hsa-miR-3920	CLIP-seq
MIRT959955	hsa-miR-4307	CLIP-seq
MIRT959956	hsa-miR-4445	CLIP-seq
MIRT959957	hsa-miR-448	CLIP-seq
MIRT959958	hsa-miR-4526	CLIP-seq
MIRT959959	hsa-miR-4711-5p	CLIP-seq
MIRT959960	hsa-miR-4712-5p	CLIP-seq
MIRT959961	hsa-miR-4720-3p	CLIP-seq
MIRT959962	hsa-miR-4738-3p	CLIP-seq
MIRT959963	hsa-miR-4765	CLIP-seq
MIRT959964	hsa-miR-4778-3p	CLIP-seq
MIRT959965	hsa-miR-4782-3p	CLIP-seq
MIRT959966	hsa-miR-499a-5p	CLIP-seq
MIRT959967	hsa-miR-508-3p	CLIP-seq
MIRT959968	hsa-miR-526b	CLIP-seq
MIRT959969	hsa-miR-548c-3p	CLIP-seq
MIRT959970	hsa-miR-568	CLIP-seq
MIRT959971	hsa-miR-578	CLIP-seq
MIRT959972	hsa-miR-586	CLIP-seq
MIRT959973	hsa-miR-617	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq
MIRT959975	hsa-miR-770-5p	CLIP-seq
MIRT959976	hsa-miR-23a	CLIP-seq
MIRT959977	hsa-miR-23b	CLIP-seq
MIRT959978	hsa-miR-23c	CLIP-seq
MIRT959979	hsa-miR-29a	CLIP-seq
MIRT959980	hsa-miR-29b	CLIP-seq
MIRT959981	hsa-miR-29c	CLIP-seq
MIRT959947	hsa-miR-3174	CLIP-seq
MIRT959949	hsa-miR-3613-3p	CLIP-seq
MIRT959953	hsa-miR-3662	CLIP-seq
MIRT959982	hsa-miR-412	CLIP-seq
MIRT959983	hsa-miR-4282	CLIP-seq
MIRT959957	hsa-miR-448	CLIP-seq
MIRT959984	hsa-miR-4524	CLIP-seq
MIRT959959	hsa-miR-4711-5p	CLIP-seq
MIRT959963	hsa-miR-4765	CLIP-seq
MIRT959985	hsa-miR-4786-5p	CLIP-seq
MIRT959986	hsa-miR-4799-5p	CLIP-seq
MIRT959987	hsa-miR-513a-3p	CLIP-seq
MIRT959988	hsa-miR-577	CLIP-seq
MIRT959972	hsa-miR-586	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq
MIRT959989	hsa-miR-656	CLIP-seq
MIRT959990	hsa-miR-924	CLIP-seq
MIRT959947	hsa-miR-3174	CLIP-seq
MIRT959963	hsa-miR-4765	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq
MIRT1984342	hsa-miR-105	CLIP-seq
MIRT1984343	hsa-miR-1183	CLIP-seq
MIRT1984344	hsa-miR-1260	CLIP-seq
MIRT1984345	hsa-miR-1260b	CLIP-seq
MIRT959943	hsa-miR-1264	CLIP-seq
MIRT1984346	hsa-miR-1827	CLIP-seq
MIRT1984347	hsa-miR-188-3p	CLIP-seq
MIRT959976	hsa-miR-23a	CLIP-seq
MIRT959977	hsa-miR-23b	CLIP-seq
MIRT959978	hsa-miR-23c	CLIP-seq
MIRT1984348	hsa-miR-2682	CLIP-seq
MIRT1984349	hsa-miR-3156-3p	CLIP-seq
MIRT1984350	hsa-miR-3668	CLIP-seq
MIRT1984351	hsa-miR-3685	CLIP-seq
MIRT1984352	hsa-miR-384	CLIP-seq
MIRT1984353	hsa-miR-4301	CLIP-seq
MIRT1984354	hsa-miR-4310	CLIP-seq
MIRT1984355	hsa-miR-4328	CLIP-seq
MIRT1984356	hsa-miR-449c	CLIP-seq
MIRT1984357	hsa-miR-4652-3p	CLIP-seq
MIRT1984358	hsa-miR-4719	CLIP-seq
MIRT1984359	hsa-miR-494	CLIP-seq
MIRT1984343	hsa-miR-1183	CLIP-seq
MIRT959943	hsa-miR-1264	CLIP-seq
MIRT2219458	hsa-miR-1278	CLIP-seq
MIRT2219459	hsa-miR-1323	CLIP-seq
MIRT2219460	hsa-miR-141	CLIP-seq
MIRT2219461	hsa-miR-146a	CLIP-seq
MIRT2219462	hsa-miR-146b-5p	CLIP-seq
MIRT2219463	hsa-miR-200a	CLIP-seq
MIRT2219464	hsa-miR-223	CLIP-seq
MIRT2219465	hsa-miR-2277-3p	CLIP-seq
MIRT959976	hsa-miR-23a	CLIP-seq
MIRT959977	hsa-miR-23b	CLIP-seq
MIRT959978	hsa-miR-23c	CLIP-seq
MIRT959979	hsa-miR-29a	CLIP-seq
MIRT959980	hsa-miR-29b	CLIP-seq
MIRT959981	hsa-miR-29c	CLIP-seq
MIRT959947	hsa-miR-3174	CLIP-seq
MIRT2219466	hsa-miR-3647-3p	CLIP-seq
MIRT959950	hsa-miR-3653	CLIP-seq
MIRT959951	hsa-miR-3658	CLIP-seq
MIRT1984351	hsa-miR-3685	CLIP-seq
MIRT2219467	hsa-miR-3691-3p	CLIP-seq
MIRT1984352	hsa-miR-384	CLIP-seq
MIRT959982	hsa-miR-412	CLIP-seq
MIRT2219468	hsa-miR-4252	CLIP-seq
MIRT2219469	hsa-miR-4293	CLIP-seq
MIRT2219470	hsa-miR-4446-5p	CLIP-seq
MIRT959984	hsa-miR-4524	CLIP-seq
MIRT2219471	hsa-miR-4539	CLIP-seq
MIRT2219472	hsa-miR-4697-3p	CLIP-seq
MIRT2219473	hsa-miR-4724-5p	CLIP-seq
MIRT2219474	hsa-miR-4755-5p	CLIP-seq
MIRT2219475	hsa-miR-4760-3p	CLIP-seq
MIRT959963	hsa-miR-4765	CLIP-seq
MIRT2219476	hsa-miR-4774-5p	CLIP-seq
MIRT2219477	hsa-miR-522	CLIP-seq
MIRT2219478	hsa-miR-542-3p	CLIP-seq
MIRT2219479	hsa-miR-548a-3p	CLIP-seq
MIRT2219480	hsa-miR-548e	CLIP-seq
MIRT2219481	hsa-miR-548f	CLIP-seq
MIRT2219482	hsa-miR-548o	CLIP-seq
MIRT2219483	hsa-miR-589	CLIP-seq
MIRT2219484	hsa-miR-642a	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq
MIRT2219485	hsa-miR-654-3p	CLIP-seq
MIRT2219486	hsa-miR-922	CLIP-seq
MIRT959990	hsa-miR-924	CLIP-seq
MIRT959943	hsa-miR-1264	CLIP-seq
MIRT959944	hsa-miR-145	CLIP-seq
MIRT2522744	hsa-miR-200b	CLIP-seq
MIRT2522745	hsa-miR-200c	CLIP-seq
MIRT2522746	hsa-miR-2053	CLIP-seq
MIRT959945	hsa-miR-219-5p	CLIP-seq
MIRT2522747	hsa-miR-2355-3p	CLIP-seq
MIRT2522748	hsa-miR-3120-3p	CLIP-seq
MIRT959946	hsa-miR-3149	CLIP-seq
MIRT959948	hsa-miR-3180-5p	CLIP-seq
MIRT959950	hsa-miR-3653	CLIP-seq
MIRT959951	hsa-miR-3658	CLIP-seq
MIRT959952	hsa-miR-3660	CLIP-seq
MIRT959953	hsa-miR-3662	CLIP-seq
MIRT959954	hsa-miR-3920	CLIP-seq
MIRT2522749	hsa-miR-429	CLIP-seq
MIRT2522750	hsa-miR-4318	CLIP-seq
MIRT959956	hsa-miR-4445	CLIP-seq
MIRT959958	hsa-miR-4526	CLIP-seq
MIRT2522751	hsa-miR-4646-3p	CLIP-seq
MIRT2522752	hsa-miR-4666-5p	CLIP-seq
MIRT2522753	hsa-miR-4693-5p	CLIP-seq
MIRT959960	hsa-miR-4712-5p	CLIP-seq
MIRT959962	hsa-miR-4738-3p	CLIP-seq
MIRT2522754	hsa-miR-4753-5p	CLIP-seq
MIRT2522755	hsa-miR-4775	CLIP-seq
MIRT959965	hsa-miR-4782-3p	CLIP-seq
MIRT1984359	hsa-miR-494	CLIP-seq
MIRT959966	hsa-miR-499a-5p	CLIP-seq
MIRT959967	hsa-miR-508-3p	CLIP-seq
MIRT2522756	hsa-miR-545	CLIP-seq
MIRT2522757	hsa-miR-548p	CLIP-seq
MIRT959970	hsa-miR-568	CLIP-seq
MIRT2522758	hsa-miR-569	CLIP-seq
MIRT959972	hsa-miR-586	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq
MIRT959975	hsa-miR-770-5p	CLIP-seq
MIRT2522759	hsa-miR-892a	CLIP-seq
MIRT2522748	hsa-miR-3120-3p	CLIP-seq
MIRT2522754	hsa-miR-4753-5p	CLIP-seq
MIRT2522756	hsa-miR-545	CLIP-seq
MIRT2522757	hsa-miR-548p	CLIP-seq
MIRT959974	hsa-miR-642b	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	8756667
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	14970218
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	14970218, 19674970
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	14970218
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	8756667, 14970218
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	14970218
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	14970218
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8756667, 14970218
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
619798	3317	ENSG00000109381

Q15723

Protein name

ETS-related transcription factor Elf-2 (E74-like factor 2) (New ETS-related factor)

Protein function

Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.; Isoform 2 may function in repression of RUNX1-mediated transactivation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12310	Elf-1_N	3 → 108	Transcription factor protein N terminal	Family
PF00178	Ets	209 → 290	Ets-domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all fetal and adult tissues examined. Among fetal tissues, highest levels of expression detected in heart, lung, liver and kidney, and lower levels in brain. Among adult tissues, highest levels of expression detected in he

Sequence

MTSAVVDSGGTILELSSNGVENQEESEKVSEYPAVIVEPVPSARLEQGYAAQVLVYDDET
YMMQDVAEEQEVETENVETVEASVHSSNAHCTDKTIEAAEALLHMESPTCLRDSRSPVEV
FVPPCVSTPEFIHAAMRPDVITETVVEVSTEESEPMDTSPIPTSPDSHEPMKKKKVGRKP
KTQQSPISNGSPELGIKKKPREGKGNTTYLWEFLLDLLQDKNTCPRYIKWTQREKGIFKL
VDSKAVSKLWGKHKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFKDMPKNIVVID
DDKSETCNEDLAGTTDEKSLERVSLSAESLLKAASSVRSGKNSSPINCSRAEKGVARVVN
ITSPGHDASSRSPTTTASVSATAAPRTVRVAMQVPVVMTSLGQKISTVAVQSVNAGAPLI
TSTSPTTATSPKVVIQTIPTVMPASTENGDKITMQPAKIITIPATQLAQCQLQTKSNLTG
SGSINIVGTPLAVRALTPVSIAHGTPVMRLSMPTQQASGQTPPRVISAVIKGPEVKSEAV
AKKQEHDVKTLQLVEEKPADGNKTVTHVVVVSAPSAIALPVTMKTEGLVTCEK

Sequence length

593

Interactions

View interactions

	Reactome
			RUNX1 regulates transcription of genes involved in BCR signaling

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
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Likely pathogenic	rs747574524	RCV000590991	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37774680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	29628936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26968954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME	Cerebellar ataxia, neuropathy and vestibular areflexia syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS disorder	CNS Disorder	BEFREE	30504720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32028672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12620289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	9001422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26968954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28286730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only

ELF2 (E74 like ETS transcription factor 2)