ELP2 (elongator acetyltransferase complex subunit 2)

Gene

• Entrez ID: 55250
• Gene name: Elongator acetyltransferase complex subunit 2
• Gene symbol: ELP2
• Synonyms (NCBI Gene): MRT58, SHINC-2, STATIP1, StIP
• Chromosome: 18
• Chromosome location: 18q12.2
• Summary: The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may hel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs371310428	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs767713084	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs772450541	A>C,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs773432002	A>G	Not-provided, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs867944805	TAAA>-	Not-provided, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1283454201	T>-,TT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022867	hsa-miR-124-3p	Microarray	18668037
MIRT050907	hsa-miR-17-5p	CLASH	23622248
MIRT646531	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT646530	hsa-miR-4673	HITS-CLIP	19536157
MIRT646529	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT646528	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT646526	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT722818	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT722817	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT646527	hsa-miR-623	HITS-CLIP	19536157
MIRT646525	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT646524	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT722816	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT722815	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT722814	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT646523	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT646522	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT646521	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT646520	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT673290	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670431	hsa-miR-5693	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670431	hsa-miR-5693	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT646531	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT646530	hsa-miR-4673	HITS-CLIP	23824327
MIRT646529	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646528	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646526	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT646527	hsa-miR-623	HITS-CLIP	23824327
MIRT646525	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646524	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646523	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646522	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646521	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT646520	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610783	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610783	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT488681	hsa-miR-4318	PAR-CLIP	23592263
MIRT488680	hsa-miR-892a	PAR-CLIP	23592263
MIRT488679	hsa-miR-1257	PAR-CLIP	23592263
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	23592263
MIRT446256	hsa-miR-3125	PAR-CLIP	22100165
MIRT446255	hsa-miR-3916	PAR-CLIP	22100165
MIRT446254	hsa-miR-6859-5p	PAR-CLIP	22100165
MIRT446253	hsa-miR-6847-5p	PAR-CLIP	22100165
MIRT446252	hsa-miR-5004-5p	PAR-CLIP	22100165
MIRT446251	hsa-miR-4751	PAR-CLIP	22100165
MIRT446250	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT446249	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT446248	hsa-miR-3915	PAR-CLIP	22100165
MIRT446247	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT446246	hsa-miR-4689	PAR-CLIP	22100165
MIRT446244	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT446245	hsa-miR-1273e	PAR-CLIP	22100165
MIRT446243	hsa-miR-3180-5p	PAR-CLIP	22100165
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488679	hsa-miR-1257	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488681	hsa-miR-4318	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT488680	hsa-miR-892a	PAR-CLIP	26701625
MIRT646531	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT646530	hsa-miR-4673	HITS-CLIP	19536157
MIRT646529	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT646528	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT646526	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT722818	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT722817	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT646527	hsa-miR-623	HITS-CLIP	19536157
MIRT646525	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT646524	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT722816	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT722815	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT722814	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT646523	hsa-miR-4755-5p	HITS-CLIP	19536157
MIRT646522	hsa-miR-5006-3p	HITS-CLIP	19536157
MIRT646521	hsa-miR-670-3p	HITS-CLIP	19536157
MIRT646520	hsa-miR-1238-3p	HITS-CLIP	19536157
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT673290	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670431	hsa-miR-5693	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670435	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT670434	hsa-miR-3155a	HITS-CLIP	23824327
MIRT670433	hsa-miR-3155b	HITS-CLIP	23824327
MIRT670432	hsa-miR-484	HITS-CLIP	23824327
MIRT670431	hsa-miR-5693	HITS-CLIP	23824327
MIRT670430	hsa-miR-4486	HITS-CLIP	23824327
MIRT670429	hsa-miR-4284	HITS-CLIP	23824327
MIRT670428	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670427	hsa-miR-4505	HITS-CLIP	23824327
MIRT670426	hsa-miR-5787	HITS-CLIP	23824327
MIRT670425	hsa-miR-3178	HITS-CLIP	23824327
MIRT670424	hsa-miR-7977	HITS-CLIP	23824327
MIRT670423	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT670422	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT670421	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT670420	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT670419	hsa-miR-1267	HITS-CLIP	23824327
MIRT670418	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT670417	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT670416	hsa-miR-4770	HITS-CLIP	23824327
MIRT670415	hsa-miR-6088	HITS-CLIP	23824327
MIRT670414	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT670413	hsa-miR-1273f	HITS-CLIP	23824327
MIRT670412	hsa-miR-4534	HITS-CLIP	23824327
MIRT670411	hsa-miR-8082	HITS-CLIP	23824327
MIRT670410	hsa-miR-1289	HITS-CLIP	23824327
MIRT670409	hsa-miR-4294	HITS-CLIP	23824327
MIRT670408	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT670407	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT670406	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT670405	hsa-miR-3198	HITS-CLIP	23824327
MIRT670404	hsa-miR-4309	HITS-CLIP	23824327
MIRT670403	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT670402	hsa-miR-8055	HITS-CLIP	23824327
MIRT670401	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT646531	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT646530	hsa-miR-4673	HITS-CLIP	23824327
MIRT646529	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT646528	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT646526	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT646527	hsa-miR-623	HITS-CLIP	23824327
MIRT646525	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646524	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646523	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646522	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646521	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT646520	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610783	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616601	hsa-miR-497-3p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610784	hsa-miR-3925-5p	HITS-CLIP	23824327
MIRT610783	hsa-miR-335-5p	HITS-CLIP	23824327
MIRT610782	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT610781	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT610780	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT610779	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT488681	hsa-miR-4318	PAR-CLIP	23592263
MIRT488680	hsa-miR-892a	PAR-CLIP	23592263
MIRT488679	hsa-miR-1257	PAR-CLIP	23592263
MIRT488678	hsa-miR-4693-5p	PAR-CLIP	23592263
MIRT446256	hsa-miR-3125	PAR-CLIP	22100165
MIRT446255	hsa-miR-3916	PAR-CLIP	22100165
MIRT446254	hsa-miR-6859-5p	PAR-CLIP	22100165
MIRT446253	hsa-miR-6847-5p	PAR-CLIP	22100165
MIRT446252	hsa-miR-5004-5p	PAR-CLIP	22100165
MIRT446251	hsa-miR-4751	PAR-CLIP	22100165
MIRT446250	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT446249	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT446248	hsa-miR-3915	PAR-CLIP	22100165
MIRT446247	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT446246	hsa-miR-4689	PAR-CLIP	22100165
MIRT446244	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT446245	hsa-miR-1273e	PAR-CLIP	22100165
MIRT446243	hsa-miR-3180-5p	PAR-CLIP	22100165
MIRT2219834	hsa-miR-134	CLIP-seq
MIRT2219835	hsa-miR-2276	CLIP-seq
MIRT2219836	hsa-miR-3118	CLIP-seq
MIRT2219837	hsa-miR-4477a	CLIP-seq
MIRT2219838	hsa-miR-4703-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000993	Function	RNA polymerase II complex binding	IDA	11714725
GO:0002098	Process	TRNA wobble uridine modification	IEA
GO:0002098	Process	TRNA wobble uridine modification	NAS	27847465
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11714725
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	11714725
GO:0006368	Process	Transcription elongation by RNA polymerase II	TAS	11714725
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0008023	Component	Transcription elongation factor complex	IDA	11714725
GO:0008033	Process	TRNA processing	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0033588	Component	Elongator holoenzyme complex	IBA
GO:0033588	Component	Elongator holoenzyme complex	IDA	22854966
GO:0033588	Component	Elongator holoenzyme complex	IEA
GO:0033588	Component	Elongator holoenzyme complex	IPI	22854966
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA

Other IDs

• MIM: 616054
• HGNC: 18248
• e!Ensembl: ENSG00000134759

Protein

• UniProt ID: Q6IA86
• Protein name: Elongator complex protein 2 (ELP2) (SHINC-2) (STAT3-interacting protein 1) (StIP1)
• Protein function: Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). Th
• PDB: 8PTX, 8PTY, 8PTZ, 8PU0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	48 → 91	WD domain, G-beta repeat	Repeat
  PF00400	WD40	197 → 237	WD domain, G-beta repeat	Repeat
  PF00400	WD40	378 → 416	WD domain, G-beta repeat	Repeat
  PF00400	WD40	604 → 642	WD domain, G-beta repeat	Repeat
  PF00400	WD40	660 → 696	WD domain, G-beta repeat	Repeat

• Sequence:

  MVAPVLETSHVFCCPNRVRGVLNWSSGPRGLLAFGTSCSVVLYDPLKRVVVTNLNGHTAR
  VNCIQWICKQDGSPSTELVSGGSDNQVIHWEIEDNQLLKAVHLQGHEGPVYAVHAVYQRR
  TSDPALCTLIVSAAADSAVRLWSKKGPEVMCLQTLNFGNGFALALCLSFLPNTDVPILAC
  GNDDCRIHIFAQQNDQFQKVLSLCGHEDWIRGVEWAAFGRDLFLASCSQDCLIRIWKLYI
  KSTSLETQDDDNIRLKENTFTIENESVKIAFAVTLETVLAGHENWVNAVHWQPVFYKDGV
  LQQPVRLLSASMDKTMILWAPDEESGVWLEQVRVGEVGGNTLGFYDCQFNEDGSMIIAHA
  FHGALHLWKQNTVNPREWTPEIVISGHFDGVQDLVWDPEGEFIITVGTDQTTRLFAPWKR
  KDQSQVTWHEIARPQIHGYDLKCLAMINRFQFVSGADEKVLRVFSAPRNFVENFCAITGQ
  SLNHVLCNQDSDLPEGATVPALGLSNKAVFQGDIASQPSDEEELLTSTGFEYQQVAFQPS
  ILTEPPTEDHLLQNTLWPEVQKLYGHGYEIFCVTCNSSKTLLASACKAAKKEHAAIILWN
  TTSWKQVQNLVFHSLTVTQMAFSPNEKFLLAVSRDRTWSLWKKQDTISPEFEPVFSLFAF
  TNKITSVHSRIIWSCDWSPDSKYFFTGSRDKKVVVWGECDSTDDCIEHNIGPCSSVLDVG
  GAVTAVSVCPVLHPSQRYVVAVGLECGKICLYTWKKTDQVPEINDWTHCVETSQSQSHTL
  AIRKLCWKNCSGKTEQKEAEGAEWLHFASCGEDHTVKIHRVNKCAL

• Sequence length: 826

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
ELP2-related disorder	Likely pathogenic; Pathogenic	rs773432002, rs867944805	RCV000509137 RCV000509425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 58	Likely pathogenic; Pathogenic	rs1403940898, rs773432002, rs780652067, rs2511279303, rs772450541, rs371310428, rs1400164869	RCV002795904 RCV000415587 RCV003315189 RCV003993645 RCV000415581 RCV000415524 RCV001089966 RCV001089967	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Profound intellectual disability	Likely pathogenic; Pathogenic	rs371310428, rs1331690035, rs2090515872	RCV001310086 RCV001310085 RCV001310087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27758712		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28167615		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22069317		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	22069317	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	28167615		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28827549		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	25847581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	27758712		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58	Mental retardation	UNIPROT_DG	25847581		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58	Mental retardation	GENOMICS_ENGLAND_DG	25847581		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	25417721		★☆☆☆☆ Found in Text Mining only
Pica Disease	Pica	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27758712		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29723529		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only