IKZF4 (IKAROS family zinc finger 4)

Gene

• Entrez ID: 64375
• Gene name: IKAROS family zinc finger 4
• Gene symbol: IKZF4
• Synonyms (NCBI Gene): EOS, ZNFN1A4
• Chromosome: 12
• Chromosome location: 12q13.2
• Summary: Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020311	hsa-miR-130b-3p	Sequencing	20371350
MIRT028174	hsa-miR-93-5p	Sequencing	20371350
MIRT051190	hsa-miR-16-5p	CLASH	23622248
MIRT049855	hsa-miR-32-5p	CLASH	23622248
MIRT047855	hsa-miR-30c-5p	CLASH	23622248
MIRT046120	hsa-miR-30b-5p	CLASH	23622248
MIRT054202	hsa-miR-125b-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22723551
MIRT511370	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT338333	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT338334	hsa-miR-3924	HITS-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT338333	hsa-miR-656-3p	PAR-CLIP	20371350
MIRT523021	hsa-miR-3920	PAR-CLIP	20371350
MIRT567156	hsa-miR-29a-5p	PAR-CLIP	20371350
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT338334	hsa-miR-3924	PAR-CLIP	20371350
MIRT567155	hsa-miR-3192-3p	PAR-CLIP	20371350
MIRT567154	hsa-miR-4762-3p	PAR-CLIP	20371350
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT338333	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT338334	hsa-miR-3924	PAR-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT338333	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT338334	hsa-miR-3924	PAR-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT523023	hsa-miR-4731-3p	PAR-CLIP	23446348
MIRT523022	hsa-miR-4801	PAR-CLIP	23446348
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT338333	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT523021	hsa-miR-3920	PAR-CLIP	23446348
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT338334	hsa-miR-3924	PAR-CLIP	23446348
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT338333	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT338334	hsa-miR-3924	PAR-CLIP	23446348
MIRT511370	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT338333	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT338334	hsa-miR-3924	HITS-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT338333	hsa-miR-656-3p	PAR-CLIP	20371350
MIRT523021	hsa-miR-3920	PAR-CLIP	20371350
MIRT567156	hsa-miR-29a-5p	PAR-CLIP	20371350
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT338334	hsa-miR-3924	PAR-CLIP	20371350
MIRT567155	hsa-miR-3192-3p	PAR-CLIP	20371350
MIRT567154	hsa-miR-4762-3p	PAR-CLIP	20371350
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT338333	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT338334	hsa-miR-3924	PAR-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT338333	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT338334	hsa-miR-3924	PAR-CLIP	21572407
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT523023	hsa-miR-4731-3p	PAR-CLIP	23446348
MIRT523022	hsa-miR-4801	PAR-CLIP	23446348
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT338333	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT523021	hsa-miR-3920	PAR-CLIP	23446348
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT338334	hsa-miR-3924	PAR-CLIP	23446348
MIRT511370	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT511369	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT338335	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT338333	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT338331	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT338334	hsa-miR-3924	PAR-CLIP	23446348
MIRT1063341	hsa-miR-101	CLIP-seq
MIRT1063342	hsa-miR-1252	CLIP-seq
MIRT1063343	hsa-miR-1253	CLIP-seq
MIRT1063344	hsa-miR-125a-3p	CLIP-seq
MIRT1063345	hsa-miR-1294	CLIP-seq
MIRT1063346	hsa-miR-1298	CLIP-seq
MIRT1063347	hsa-miR-130a	CLIP-seq
MIRT1063348	hsa-miR-130b	CLIP-seq
MIRT1063349	hsa-miR-1323	CLIP-seq
MIRT1063350	hsa-miR-144	CLIP-seq
MIRT1063351	hsa-miR-185	CLIP-seq
MIRT1063352	hsa-miR-199a-3p	CLIP-seq
MIRT1063353	hsa-miR-199b-3p	CLIP-seq
MIRT1063354	hsa-miR-205	CLIP-seq
MIRT1063355	hsa-miR-22	CLIP-seq
MIRT1063356	hsa-miR-221	CLIP-seq
MIRT1063357	hsa-miR-222	CLIP-seq
MIRT1063358	hsa-miR-300	CLIP-seq
MIRT1063359	hsa-miR-301a	CLIP-seq
MIRT1063360	hsa-miR-301b	CLIP-seq
MIRT1063361	hsa-miR-3126-5p	CLIP-seq
MIRT1063362	hsa-miR-3129-5p	CLIP-seq
MIRT1063363	hsa-miR-3140-5p	CLIP-seq
MIRT1063364	hsa-miR-3157-5p	CLIP-seq
MIRT1063365	hsa-miR-3173-3p	CLIP-seq
MIRT1063366	hsa-miR-3174	CLIP-seq
MIRT1063367	hsa-miR-3179	CLIP-seq
MIRT1063368	hsa-miR-3202	CLIP-seq
MIRT1063369	hsa-miR-338-5p	CLIP-seq
MIRT1063370	hsa-miR-3666	CLIP-seq
MIRT1063371	hsa-miR-381	CLIP-seq
MIRT1063372	hsa-miR-3915	CLIP-seq
MIRT1063373	hsa-miR-3928	CLIP-seq
MIRT1063374	hsa-miR-3934	CLIP-seq
MIRT1063375	hsa-miR-4271	CLIP-seq
MIRT1063376	hsa-miR-4295	CLIP-seq
MIRT1063377	hsa-miR-4306	CLIP-seq
MIRT1063378	hsa-miR-4316	CLIP-seq
MIRT1063379	hsa-miR-4419a	CLIP-seq
MIRT1063380	hsa-miR-4426	CLIP-seq
MIRT1063381	hsa-miR-4428	CLIP-seq
MIRT1063382	hsa-miR-4434	CLIP-seq
MIRT1063383	hsa-miR-4435	CLIP-seq
MIRT1063384	hsa-miR-4437	CLIP-seq
MIRT1063385	hsa-miR-4476	CLIP-seq
MIRT1063386	hsa-miR-4481	CLIP-seq
MIRT1063387	hsa-miR-4510	CLIP-seq
MIRT1063388	hsa-miR-4516	CLIP-seq
MIRT1063389	hsa-miR-4533	CLIP-seq
MIRT1063390	hsa-miR-454	CLIP-seq
MIRT1063391	hsa-miR-4540	CLIP-seq
MIRT1063392	hsa-miR-4644	CLIP-seq
MIRT1063393	hsa-miR-4647	CLIP-seq
MIRT1063394	hsa-miR-4654	CLIP-seq
MIRT1063395	hsa-miR-4662b	CLIP-seq
MIRT1063396	hsa-miR-4666-3p	CLIP-seq
MIRT1063397	hsa-miR-4671-3p	CLIP-seq
MIRT1063398	hsa-miR-4676-5p	CLIP-seq
MIRT1063399	hsa-miR-4683	CLIP-seq
MIRT1063400	hsa-miR-4691-3p	CLIP-seq
MIRT1063401	hsa-miR-4693-3p	CLIP-seq
MIRT1063402	hsa-miR-4699-3p	CLIP-seq
MIRT1063403	hsa-miR-4712-5p	CLIP-seq
MIRT1063404	hsa-miR-4725-3p	CLIP-seq
MIRT1063405	hsa-miR-4745-5p	CLIP-seq
MIRT1063406	hsa-miR-4747-5p	CLIP-seq
MIRT1063407	hsa-miR-4769-5p	CLIP-seq
MIRT1063408	hsa-miR-499a-5p	CLIP-seq
MIRT1063409	hsa-miR-513c	CLIP-seq
MIRT1063410	hsa-miR-514b-5p	CLIP-seq
MIRT1063411	hsa-miR-548o	CLIP-seq
MIRT1063412	hsa-miR-548v	CLIP-seq
MIRT1063413	hsa-miR-575	CLIP-seq
MIRT1063414	hsa-miR-582-5p	CLIP-seq
MIRT1063415	hsa-miR-600	CLIP-seq
MIRT1063416	hsa-miR-656	CLIP-seq
MIRT1063417	hsa-miR-664	CLIP-seq
MIRT1063418	hsa-miR-764	CLIP-seq
MIRT1063419	hsa-miR-770-5p	CLIP-seq
MIRT1063420	hsa-miR-921	CLIP-seq
MIRT1063341	hsa-miR-101	CLIP-seq
MIRT2014956	hsa-miR-10a	CLIP-seq
MIRT2014957	hsa-miR-10b	CLIP-seq
MIRT2014958	hsa-miR-1231	CLIP-seq
MIRT1063344	hsa-miR-125a-3p	CLIP-seq
MIRT1063345	hsa-miR-1294	CLIP-seq
MIRT1063350	hsa-miR-144	CLIP-seq
MIRT1063351	hsa-miR-185	CLIP-seq
MIRT1063352	hsa-miR-199a-3p	CLIP-seq
MIRT1063353	hsa-miR-199b-3p	CLIP-seq
MIRT1063361	hsa-miR-3126-5p	CLIP-seq
MIRT1063362	hsa-miR-3129-5p	CLIP-seq
MIRT1063363	hsa-miR-3140-5p	CLIP-seq
MIRT2014959	hsa-miR-3150b-3p	CLIP-seq
MIRT1063364	hsa-miR-3157-5p	CLIP-seq
MIRT2014960	hsa-miR-3160-3p	CLIP-seq
MIRT2014961	hsa-miR-3166	CLIP-seq
MIRT1063365	hsa-miR-3173-3p	CLIP-seq
MIRT1063366	hsa-miR-3174	CLIP-seq
MIRT2014962	hsa-miR-3185	CLIP-seq
MIRT2014963	hsa-miR-3192	CLIP-seq
MIRT1063368	hsa-miR-3202	CLIP-seq
MIRT2014964	hsa-miR-3616-3p	CLIP-seq
MIRT2014965	hsa-miR-3659	CLIP-seq
MIRT1063373	hsa-miR-3928	CLIP-seq
MIRT1063374	hsa-miR-3934	CLIP-seq
MIRT2014966	hsa-miR-4276	CLIP-seq
MIRT2014967	hsa-miR-4280	CLIP-seq
MIRT2014968	hsa-miR-4300	CLIP-seq
MIRT2014969	hsa-miR-4302	CLIP-seq
MIRT1063377	hsa-miR-4306	CLIP-seq
MIRT2014970	hsa-miR-4314	CLIP-seq
MIRT1063379	hsa-miR-4419a	CLIP-seq
MIRT1063383	hsa-miR-4435	CLIP-seq
MIRT1063384	hsa-miR-4437	CLIP-seq
MIRT1063385	hsa-miR-4476	CLIP-seq
MIRT1063387	hsa-miR-4510	CLIP-seq
MIRT1063392	hsa-miR-4644	CLIP-seq
MIRT2014971	hsa-miR-4646-5p	CLIP-seq
MIRT2014972	hsa-miR-4658	CLIP-seq
MIRT2014973	hsa-miR-4672	CLIP-seq
MIRT1063398	hsa-miR-4676-5p	CLIP-seq
MIRT1063399	hsa-miR-4683	CLIP-seq
MIRT2014974	hsa-miR-4689	CLIP-seq
MIRT1063400	hsa-miR-4691-3p	CLIP-seq
MIRT2014975	hsa-miR-4710	CLIP-seq
MIRT2014976	hsa-miR-4711-3p	CLIP-seq
MIRT1063403	hsa-miR-4712-5p	CLIP-seq
MIRT2014977	hsa-miR-4721	CLIP-seq
MIRT2014978	hsa-miR-4784	CLIP-seq
MIRT1063408	hsa-miR-499a-5p	CLIP-seq
MIRT2014979	hsa-miR-574-5p	CLIP-seq
MIRT1063413	hsa-miR-575	CLIP-seq
MIRT1063418	hsa-miR-764	CLIP-seq
MIRT1063419	hsa-miR-770-5p	CLIP-seq
MIRT2014980	hsa-miR-920	CLIP-seq
MIRT1063420	hsa-miR-921	CLIP-seq
MIRT2014981	hsa-miR-922	CLIP-seq
MIRT2247315	hsa-miR-106a	CLIP-seq
MIRT2247316	hsa-miR-106b	CLIP-seq
MIRT1063344	hsa-miR-125a-3p	CLIP-seq
MIRT2247317	hsa-miR-1283	CLIP-seq
MIRT2247318	hsa-miR-146b-3p	CLIP-seq
MIRT2247319	hsa-miR-17	CLIP-seq
MIRT1063351	hsa-miR-185	CLIP-seq
MIRT1063352	hsa-miR-199a-3p	CLIP-seq
MIRT1063353	hsa-miR-199b-3p	CLIP-seq
MIRT2247320	hsa-miR-20a	CLIP-seq
MIRT2247321	hsa-miR-20b	CLIP-seq
MIRT2247322	hsa-miR-28-5p	CLIP-seq
MIRT1063362	hsa-miR-3129-5p	CLIP-seq
MIRT2247323	hsa-miR-3139	CLIP-seq
MIRT2014961	hsa-miR-3166	CLIP-seq
MIRT2247324	hsa-miR-3173-5p	CLIP-seq
MIRT1063366	hsa-miR-3174	CLIP-seq
MIRT2014963	hsa-miR-3192	CLIP-seq
MIRT2014964	hsa-miR-3616-3p	CLIP-seq
MIRT1063374	hsa-miR-3934	CLIP-seq
MIRT1063377	hsa-miR-4306	CLIP-seq
MIRT1063379	hsa-miR-4419a	CLIP-seq
MIRT1063383	hsa-miR-4435	CLIP-seq
MIRT2247325	hsa-miR-4436b-5p	CLIP-seq
MIRT2247326	hsa-miR-4496	CLIP-seq
MIRT1063387	hsa-miR-4510	CLIP-seq
MIRT1063391	hsa-miR-4540	CLIP-seq
MIRT1063392	hsa-miR-4644	CLIP-seq
MIRT2014973	hsa-miR-4672	CLIP-seq
MIRT1063398	hsa-miR-4676-5p	CLIP-seq
MIRT2247327	hsa-miR-4796-3p	CLIP-seq
MIRT2247328	hsa-miR-519d	CLIP-seq
MIRT2247329	hsa-miR-520d-5p	CLIP-seq
MIRT2247330	hsa-miR-524-5p	CLIP-seq
MIRT1063413	hsa-miR-575	CLIP-seq
MIRT2247331	hsa-miR-597	CLIP-seq
MIRT2247332	hsa-miR-610	CLIP-seq
MIRT2247333	hsa-miR-708	CLIP-seq
MIRT1063418	hsa-miR-764	CLIP-seq
MIRT2247334	hsa-miR-874	CLIP-seq
MIRT1063420	hsa-miR-921	CLIP-seq
MIRT2014981	hsa-miR-922	CLIP-seq
MIRT2247335	hsa-miR-93	CLIP-seq
MIRT1063351	hsa-miR-185	CLIP-seq
MIRT2014963	hsa-miR-3192	CLIP-seq
MIRT1063377	hsa-miR-4306	CLIP-seq
MIRT1063392	hsa-miR-4644	CLIP-seq
MIRT2451681	hsa-miR-3189-3p	CLIP-seq
MIRT2451682	hsa-miR-3674	CLIP-seq
MIRT2451683	hsa-miR-3918	CLIP-seq
MIRT2247325	hsa-miR-4436b-5p	CLIP-seq
MIRT1063386	hsa-miR-4481	CLIP-seq
MIRT2451684	hsa-miR-4511	CLIP-seq
MIRT1063394	hsa-miR-4654	CLIP-seq
MIRT2451685	hsa-miR-4687-3p	CLIP-seq
MIRT1063401	hsa-miR-4693-3p	CLIP-seq
MIRT1063405	hsa-miR-4745-5p	CLIP-seq
MIRT1063407	hsa-miR-4769-5p	CLIP-seq
MIRT2451686	hsa-miR-4773	CLIP-seq
MIRT2451687	hsa-miR-548b-3p	CLIP-seq
MIRT2451688	hsa-miR-643	CLIP-seq
MIRT2451689	hsa-miR-663b	CLIP-seq
MIRT2451690	hsa-miR-665	CLIP-seq
MIRT2451682	hsa-miR-3674	CLIP-seq
MIRT2247325	hsa-miR-4436b-5p	CLIP-seq
MIRT2451688	hsa-miR-643	CLIP-seq
MIRT2451682	hsa-miR-3674	CLIP-seq
MIRT2550747	hsa-miR-4269	CLIP-seq
MIRT2550748	hsa-miR-4301	CLIP-seq
MIRT2247325	hsa-miR-4436b-5p	CLIP-seq
MIRT2550749	hsa-miR-4514	CLIP-seq
MIRT2550750	hsa-miR-4692	CLIP-seq
MIRT2550751	hsa-miR-4742-5p	CLIP-seq
MIRT2550752	hsa-miR-494	CLIP-seq
MIRT2451688	hsa-miR-643	CLIP-seq
MIRT2682716	hsa-miR-25	CLIP-seq
MIRT2682717	hsa-miR-32	CLIP-seq
MIRT2682718	hsa-miR-363	CLIP-seq
MIRT2682719	hsa-miR-367	CLIP-seq
MIRT2451682	hsa-miR-3674	CLIP-seq
MIRT2682720	hsa-miR-3977	CLIP-seq
MIRT2682721	hsa-miR-4325	CLIP-seq
MIRT2247325	hsa-miR-4436b-5p	CLIP-seq
MIRT2451688	hsa-miR-643	CLIP-seq
MIRT2682722	hsa-miR-92a	CLIP-seq
MIRT2682723	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10978333
GO:0005515	Function	Protein binding	IPI	15491138, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10978333
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	15491138
GO:0016604	Component	Nuclear body	IDA
GO:0019904	Function	Protein domain specific binding	IPI	15491138
GO:0032991	Component	Protein-containing complex	IMP	15491138
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	TAS	10978333
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IMP	15491138

Other IDs

• MIM: 606239
• HGNC: 13179
• e!Ensembl: ENSG00000123411

Protein

• UniProt ID: Q9H2S9
• Protein name: Zinc finger protein Eos (Ikaros family zinc finger protein 4)
• Protein function: DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be
• PDB: 2MA7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	187 → 209	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	215 → 237	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	248 → 271	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle, low levels of expression in heart, thymus, kidney, liver, and spleen. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have c
• Sequence:

  MHTPPALPRRFQGGGRVRTPGSHRQGKDNLERDPSGGCVPDFLPQAQDSNHFIMESLFCE
  SSGDSSLEKEFLGAPVGPSVSTPNSQHSSPSRSLSANSIKVEMYSDEESSRLLGPDERLL
  EKDDSVIVEDSLSEPLGYCDGSGPEPHSPGGIRLPNGKLKCDVCGMVCIGPNVLMVHKRS
  HTGERPFHCNQCGASFTQKGNLLRHIKLHSGEKPFKCPFCNYACRRRDALTGHLRTHSVS
  SPTVGKPYKCNYCGRSYKQQSTLEEHKERCHNYLQSLSTEAQALAGQPGDEIRDLEMVPD
  SMLHSSSERPTFIDRLANSLTKRKRSTPQKFVGEKQMRFSLSDLPYDVNSGGYEKDVELV
  AHHSLEPGFGSSLAFVGAEHLRPLRLPPTNCISELTPVISSVYTQMQPLPGRLELPGSRE
  AGEGPEDLADGGPLLYRPRGPLTDPGASPSNGCQDSTDTESNHEDRVAGVVSLPQGPPPQ
  PPPTIVVGRHSPAYAKEDPKPQEGLLRGTPGPSKEVLRVVGESGEPVKAFKCEHCRILFL
  DHVMFTIHMGCHGFRDPFECNICGYHSQDRYEFSSHIVRGEHKVG

• Sequence length: 585

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia Areata	Alopecia Areata	GWASDB_DG	20596022		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASCAT_DG	20596022		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	CTD_human_DG	20596022		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	21804548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21804548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	35524249	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21270240, 23721563, 31296356		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28597949, 34448034	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	18198356, 21829393		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	18198356		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23721563		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	37188663	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35524249	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33664499	Associate	★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	38330583	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	CTD_human_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	22951725	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations