Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5604
Gene name Gene Name - the full gene name approved by the HGNC.	Mitogen-activated protein kinase kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MAP2K1
Synonyms (NCBI Gene) Gene synonyms aliases	CFC3, MAPKK1, MEK1, MEL, MKK1, PRKMK1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CFC3, MEL
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration poin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908594	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908595	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908596	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs397516789	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516790	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516791	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516792	C>A,G,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs397516793	T>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs727503996	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504317	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs727504819	G>A,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880502	T>A,G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880503	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs730880507	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880508	GC>TT	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs797044593	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs869025339	AAG>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion
rs869025608	G>C,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs876657651	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057518078	TGGGAGAACTGAAGG>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1057518080	ACTGAAGGATGACGA>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs1057519728	T>A,C,G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519729	A>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519730	T>A,G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519731	G>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519732	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519733	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519734	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057519805	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519819	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519820	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519821	G>C,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519822	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519823	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519856	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519908	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057519909	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1595860875	A>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004483	hsa-miR-34a-5p	qRT-PCR, Luciferase reporter assay, Western blot, Northern blot	20299489
MIRT003226	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT003226	hsa-miR-424-5p	Immunohistochemistry, qRT-PCR, Western blot	21179471
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT007165	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	23092882
MIRT022002	hsa-miR-128-3p	Sequencing	20371350
MIRT025120	hsa-miR-181a-5p	Sequencing	20371350
MIRT027265	hsa-miR-101-3p	Sequencing	20371350
MIRT047918	hsa-miR-30c-5p	CLASH	23622248
MIRT038788	hsa-miR-93-3p	CLASH	23622248
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT025120	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23911747
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT403875	hsa-miR-181b-5p	Luciferase reporter assay	23645289
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438783	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438782	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438779	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438778	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438775	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438774	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438770	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT281794	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT281805	hsa-miR-548ab	PAR-CLIP	20371350
MIRT281806	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT281807	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT281808	hsa-miR-548ak	PAR-CLIP	20371350
MIRT281809	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT281811	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT281812	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT281813	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT281814	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT281815	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT281818	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT281793	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT281821	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT281795	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT281796	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT281800	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT281801	hsa-miR-548i	PAR-CLIP	20371350
MIRT281797	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT281804	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT281802	hsa-miR-548w	PAR-CLIP	20371350
MIRT281803	hsa-miR-548y	PAR-CLIP	20371350
MIRT281792	hsa-miR-559	PAR-CLIP	20371350
MIRT281817	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT281798	hsa-miR-548k	PAR-CLIP	20371350
MIRT281820	hsa-miR-8054	PAR-CLIP	20371350
MIRT281799	hsa-miR-548l	PAR-CLIP	20371350
MIRT281819	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT574079	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT574078	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT281810	hsa-miR-451b	PAR-CLIP	20371350
MIRT342789	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT281791	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT281816	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT450208	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT438778	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	26609480
MIRT281794	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT281805	hsa-miR-548ab	PAR-CLIP	20371350
MIRT281806	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT281807	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT281808	hsa-miR-548ak	PAR-CLIP	20371350
MIRT281809	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT281811	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT281812	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT281813	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT281814	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT281815	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT281818	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT281793	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT281821	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT281795	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT281796	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT281800	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT281801	hsa-miR-548i	PAR-CLIP	20371350
MIRT281797	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT281804	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT281802	hsa-miR-548w	PAR-CLIP	20371350
MIRT281803	hsa-miR-548y	PAR-CLIP	20371350
MIRT281792	hsa-miR-559	PAR-CLIP	20371350
MIRT281817	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT281798	hsa-miR-548k	PAR-CLIP	20371350
MIRT281820	hsa-miR-8054	PAR-CLIP	20371350
MIRT281799	hsa-miR-548l	PAR-CLIP	20371350
MIRT281819	hsa-miR-6507-5p	PAR-CLIP	20371350
MIRT574079	hsa-miR-6758-5p	PAR-CLIP	20371350
MIRT574078	hsa-miR-6856-5p	PAR-CLIP	20371350
MIRT281810	hsa-miR-451b	PAR-CLIP	20371350
MIRT342789	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT281791	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT281816	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT450208	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT1127911	hsa-miR-1261	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT1127914	hsa-miR-1290	CLIP-seq
MIRT1127915	hsa-miR-2110	CLIP-seq
MIRT1127916	hsa-miR-2116	CLIP-seq
MIRT1127917	hsa-miR-3121-5p	CLIP-seq
MIRT1127918	hsa-miR-3153	CLIP-seq
MIRT1127919	hsa-miR-3201	CLIP-seq
MIRT1127920	hsa-miR-3622a-5p	CLIP-seq
MIRT1127921	hsa-miR-3675-5p	CLIP-seq
MIRT1127922	hsa-miR-4271	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT1127924	hsa-miR-4423-3p	CLIP-seq
MIRT1127925	hsa-miR-4666-3p	CLIP-seq
MIRT1127926	hsa-miR-4677-5p	CLIP-seq
MIRT1127927	hsa-miR-4725-3p	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT1127929	hsa-miR-4791	CLIP-seq
MIRT1127930	hsa-miR-4793-5p	CLIP-seq
MIRT1127931	hsa-miR-485-3p	CLIP-seq
MIRT1127932	hsa-miR-501-5p	CLIP-seq
MIRT1127933	hsa-miR-522	CLIP-seq
MIRT1127934	hsa-miR-577	CLIP-seq
MIRT1127935	hsa-miR-590-3p	CLIP-seq
MIRT1127936	hsa-miR-605	CLIP-seq
MIRT1127937	hsa-miR-890	CLIP-seq
MIRT1551110	hsa-miR-3136-3p	CLIP-seq
MIRT1551111	hsa-miR-3173-3p	CLIP-seq
MIRT1551112	hsa-miR-3622b-5p	CLIP-seq
MIRT1551113	hsa-miR-4533	CLIP-seq
MIRT1551114	hsa-miR-4695-5p	CLIP-seq
MIRT1551115	hsa-miR-4747-5p	CLIP-seq
MIRT2036297	hsa-miR-1208	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT2036298	hsa-miR-130a	CLIP-seq
MIRT2036299	hsa-miR-130b	CLIP-seq
MIRT2036300	hsa-miR-1324	CLIP-seq
MIRT2036301	hsa-miR-148a	CLIP-seq
MIRT2036302	hsa-miR-148b	CLIP-seq
MIRT2036303	hsa-miR-152	CLIP-seq
MIRT2036304	hsa-miR-197	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036306	hsa-miR-23a	CLIP-seq
MIRT2036307	hsa-miR-23b	CLIP-seq
MIRT2036308	hsa-miR-23c	CLIP-seq
MIRT2036309	hsa-miR-301a	CLIP-seq
MIRT2036310	hsa-miR-301b	CLIP-seq
MIRT2036311	hsa-miR-3166	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036315	hsa-miR-3666	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT2036319	hsa-miR-4282	CLIP-seq
MIRT2036320	hsa-miR-4295	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036322	hsa-miR-4420	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036324	hsa-miR-4438	CLIP-seq
MIRT2036325	hsa-miR-4514	CLIP-seq
MIRT2036326	hsa-miR-4519	CLIP-seq
MIRT2036327	hsa-miR-454	CLIP-seq
MIRT2036328	hsa-miR-4676-5p	CLIP-seq
MIRT2036329	hsa-miR-4692	CLIP-seq
MIRT2036330	hsa-miR-4717-3p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036332	hsa-miR-4760-3p	CLIP-seq
MIRT2036333	hsa-miR-4786-3p	CLIP-seq
MIRT2036334	hsa-miR-490-5p	CLIP-seq
MIRT2036335	hsa-miR-5095	CLIP-seq
MIRT2036336	hsa-miR-513a-3p	CLIP-seq
MIRT2036337	hsa-miR-575	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2036340	hsa-miR-873	CLIP-seq
MIRT1127937	hsa-miR-890	CLIP-seq
MIRT1127912	hsa-miR-1263	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT2036298	hsa-miR-130a	CLIP-seq
MIRT2036299	hsa-miR-130b	CLIP-seq
MIRT2036300	hsa-miR-1324	CLIP-seq
MIRT2266568	hsa-miR-140-3p	CLIP-seq
MIRT2036301	hsa-miR-148a	CLIP-seq
MIRT2036302	hsa-miR-148b	CLIP-seq
MIRT2266569	hsa-miR-149	CLIP-seq
MIRT2036303	hsa-miR-152	CLIP-seq
MIRT2036304	hsa-miR-197	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2266570	hsa-miR-2681	CLIP-seq
MIRT2036309	hsa-miR-301a	CLIP-seq
MIRT2036310	hsa-miR-301b	CLIP-seq
MIRT2266571	hsa-miR-3064-5p	CLIP-seq
MIRT2036311	hsa-miR-3166	CLIP-seq
MIRT2266572	hsa-miR-3179	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2266573	hsa-miR-34a	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036315	hsa-miR-3666	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2266574	hsa-miR-411	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT2036320	hsa-miR-4295	CLIP-seq
MIRT2266575	hsa-miR-4299	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036324	hsa-miR-4438	CLIP-seq
MIRT2266576	hsa-miR-4463	CLIP-seq
MIRT2266577	hsa-miR-4494	CLIP-seq
MIRT2266578	hsa-miR-449b	CLIP-seq
MIRT2036325	hsa-miR-4514	CLIP-seq
MIRT2036326	hsa-miR-4519	CLIP-seq
MIRT2036327	hsa-miR-454	CLIP-seq
MIRT2036328	hsa-miR-4676-5p	CLIP-seq
MIRT2036329	hsa-miR-4692	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036333	hsa-miR-4786-3p	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT2266579	hsa-miR-4794	CLIP-seq
MIRT2036334	hsa-miR-490-5p	CLIP-seq
MIRT2036335	hsa-miR-5095	CLIP-seq
MIRT2036337	hsa-miR-575	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2266580	hsa-miR-760	CLIP-seq
MIRT2036340	hsa-miR-873	CLIP-seq
MIRT2266581	hsa-miR-936	CLIP-seq
MIRT1127913	hsa-miR-1284	CLIP-seq
MIRT1127928	hsa-miR-4789-5p	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq
MIRT2036339	hsa-miR-633	CLIP-seq
MIRT2036305	hsa-miR-2052	CLIP-seq
MIRT2036312	hsa-miR-329	CLIP-seq
MIRT2036313	hsa-miR-362-3p	CLIP-seq
MIRT2036314	hsa-miR-3651	CLIP-seq
MIRT2036316	hsa-miR-3941	CLIP-seq
MIRT2036317	hsa-miR-3943	CLIP-seq
MIRT2036318	hsa-miR-4278	CLIP-seq
MIRT1127923	hsa-miR-4310	CLIP-seq
MIRT2036321	hsa-miR-4323	CLIP-seq
MIRT2036323	hsa-miR-4436b-5p	CLIP-seq
MIRT2036331	hsa-miR-4719	CLIP-seq
MIRT2036338	hsa-miR-603	CLIP-seq

Show/Hide all(62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000187	Process	Activation of MAPK activity	IBA	21873635
GO:0000187	Process	Activation of MAPK activity	IDA	10644344
GO:0000187	Process	Activation of MAPK activity	TAS	19565474
GO:0004672	Function	Protein kinase activity	TAS	10570282
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	18305109
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004708	Function	MAP kinase kinase activity	IBA	21873635
GO:0004708	Function	MAP kinase kinase activity	IDA	8388392, 28166211
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	TAS	19565474
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IMP	29433126
GO:0005515	Function	Protein binding	IPI	15299019, 17110930, 17255949, 17724343, 17979178, 18329369, 19197339, 20179161, 20554783, 20679487, 21441104, 22752157, 23241949, 23934108, 24211253, 24746704, 25155755, 25416956, 25437913, 25600339, 26496610, 29433126, 31980649, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	TAS	19565474
GO:0005739	Component	Mitochondrion	TAS	19565474
GO:0005769	Component	Early endosome	TAS	19565474
GO:0005770	Component	Late endosome	TAS	19565474
GO:0005783	Component	Endoplasmic reticulum	IDA	22572157
GO:0005794	Component	Golgi apparatus	TAS	19565474
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	19565474
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	TAS	19565474
GO:0006468	Process	Protein phosphorylation	IDA	28166211
GO:0006935	Process	Chemotaxis	TAS	10570282
GO:0007050	Process	Cell cycle arrest	IMP	9765203
GO:0007165	Process	Signal transduction	TAS	10570282
GO:0007507	Process	Heart development	IEA
GO:0008022	Function	Protein C-terminus binding	IDA	22572157
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9765203
GO:0010628	Process	Positive regulation of gene expression	IMP	15155804
GO:0010629	Process	Negative regulation of gene expression	IGI	23626836
GO:0018107	Process	Peptidyl-threonine phosphorylation	IMP	18305109
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0032872	Process	Regulation of stress-activated MAPK cascade	TAS	19565474
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	8388392
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	24375836, 26514923
GO:0047485	Function	Protein N-terminus binding	IDA	22572157
GO:0048538	Process	Thymus development	IEA
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0048870	Process	Cell motility	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060324	Process	Face development	IEA
GO:0060440	Process	Trachea formation	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060674	Process	Placenta blood vessel development	IEA
GO:0060711	Process	Labyrinthine layer development	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IMP	18305109
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24375836
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	8388392
GO:0090170	Process	Regulation of Golgi inheritance	TAS	19565474
GO:0090398	Process	Cellular senescence	IMP	9765203
GO:0097110	Function	Scaffold protein binding	IPI	10409742
GO:1903800	Process	Positive regulation of production of miRNAs involved in gene silencing by miRNA	IMP	24375836
GO:2000641	Process	Regulation of early endosome to late endosome transport	TAS	19565474

MIM	HGNC	e!Ensembl
176872	6840	ENSG00000169032

Protein

UniProt ID

Q02750

Protein name

Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1)

Protein function

Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and

PDB

1S9J , 2P55 , 3DV3 , 3DY7 , 3E8N , 3EQB , 3EQC , 3EQD , 3EQF , 3EQG , 3EQH , 3EQI , 3MBL , 3ORN , 3OS3 , 3PP1 , 3SLS , 3V01 , 3V04 , 3VVH , 3W8Q , 3WIG , 3ZLS , 3ZLW , 3ZLX , 3ZLY , 3ZM4 , 4AN2 , 4AN3 , 4AN9 , 4ANB , 4ARK , 4LMN , 4MNE , 4U7Z , 4U80 , 4U81 , 5BX0 , 5EYM , 5HZE , 5YT3 , 6NYB , 6PP9 , 6Q0J , 6Q0T , 6U2G , 6V2W , 6X2P , 6X2S , 6X2X , 7B3M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	68 → 361	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with extremely low levels in brain. {ECO:0000269|PubMed:1281467}.

Sequence

MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKV
GELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHE
CNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYL
REKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSY
GMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAF
IKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV

Sequence length

393

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	Source
Unknown
Cardiofaciocutaneous Syndrome	cardiofaciocutaneous syndrome		GenCC
Noonan Syndrome	Noonan syndrome		GenCC
Costello Syndrome	Costello syndrome		GenCC
Renal Carcinoma	Renal Carcinoma		GWAS
Insomnia	Insomnia		GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA

Show/Hide Text Mining Associations (174)

Disease Name	Relationship Type	References
Associations from Text Mining
Absent Eyebrows and Eyelashes with Mental Retardation	Associate	37697378
Adenocarcinoma	Associate	23196793, 24823994, 26317790, 26860843, 28617917
Adenocarcinoma of Lung	Associate	25351745, 27151654, 35641658, 36922519
Adenocarcinoma of Lung	Inhibit	34526571
Adenoma	Stimulate	29565480
Alzheimer Disease	Associate	17064357, 38039290, 39396083
Androgen Insensitivity Syndrome	Associate	35641658
Antiphospholipid Syndrome	Associate	16385547
Arteriovenous Malformations	Associate	28190454, 31637524, 32157142, 32703450, 32799314
Astrocytoma	Associate	12356354
Ataxia Telangiectasia	Associate	19500021
Atherosclerosis	Associate	35202001
Atrial Fibrillation	Associate	10807475
Biliary Tract Neoplasms	Associate	33095329
Blood Coagulation Disorders	Associate	39252244
Bone Diseases	Associate	29643386, 30667555
Breast Neoplasms	Associate	12907143, 14704150, 22429491, 23939428, 24993294, 29968772, 30108112, 31702027, 33066575, 35739379, 36041543, 36524361, 37664933
Calcinosis Cutis	Associate	26860843
Capillary Malformation Arteriovenous Malformation	Associate	32703450
Carcinogenesis	Associate	29064427, 30355600, 34526571
Carcinoid Tumor	Associate	20407018
Carcinoma	Associate	31467233
Carcinoma Ductal	Associate	34048471
Carcinoma Hepatocellular	Associate	22930530, 24931142, 27955658, 28844099, 30217449, 33090396, 35725908, 37914022, 9223425
Carcinoma Hepatocellular	Inhibit	34526571
Carcinoma Large Cell	Associate	23196793
Carcinoma Non Small Cell Lung	Associate	20354455, 23277484, 24108744, 24823994, 25634010, 26860843, 32147669, 35655775, 36499305
Carcinoma Ovarian Epithelial	Associate	25408231
Carcinoma Pancreatic Ductal	Associate	31583713
Carcinoma Renal Cell	Associate	12644821, 32717723, 34526571
Carcinoma Squamous Cell	Associate	35709927, 36922519
Cardiofaciocutaneous syndrome	Associate	17056636, 17483702, 18039235, 18854871, 19156172, 19915144, 20186801, 21062266, 21495173, 24637312, 33482860, 35509048, 35524774, 37510243, 37697378
Cardiomyopathy Hypertrophic	Associate	31163979
Caroli disease isolated	Associate	27955658
Cartilage Diseases	Associate	32157142
Central Nervous System Vascular Malformations	Associate	36864519
Chemical and Drug Induced Liver Injury	Associate	25080058
Cholangiocarcinoma	Associate	17461449, 24889489
Cognition Disorders	Associate	19156172
Cognitive Dysfunction	Associate	38039290
Colitis Ulcerative	Associate	39252244
Colorectal Neoplasms	Associate	19372556, 20413844, 23027623, 23325601, 24025253, 25794709, 26660078, 26797410, 27636997, 28655712, 29599344, 30535504, 35091088, 35544729, 35641204 View all (4 more)
Congenital Abnormalities	Associate	19156172
Corneal Endothelial Cell Loss	Associate	28190454
Costello Syndrome	Associate	17704260
Craniodiaphyseal Dysplasia Autosomal Dominant	Associate	27955658
Crazy paving pattern	Associate	36029220
Developmental Disabilities	Associate	27955658, 30355600, 37869794
Diabetes Mellitus Type 2	Associate	26269521
Disease Progression	Associate	34381078
Drug Related Side Effects and Adverse Reactions	Associate	12738674, 16957420, 18719356, 19671683, 20360249, 20442308
Dwarfism Pituitary	Associate	24637312
Ectodermal Dysplasia	Associate	19156172
Endocrine System Diseases	Associate	24637312
Endometrial Neoplasms	Associate	21720253
Endometriosis	Associate	24064688
Erdheim Chester Disease	Associate	31004029, 36693681
Esophageal Neoplasms	Inhibit	34526571
Esophageal Neoplasms	Associate	37286356
Esophageal Squamous Cell Carcinoma	Associate	19164283, 35468097, 36848349
Eye Abnormalities	Associate	19156172
Fatigue Syndrome Chronic	Associate	27098723
Focal cortical dysplasia of Taylor	Associate	36864519
Ganglioglioma	Associate	39475028
Genetic Predisposition to Disease	Associate	36693681
Glioblastoma	Associate	23190603, 32926734
Glioma	Associate	18398503, 19158480, 21364665
Glomerulonephritis Membranous	Associate	22429491
Growth Disorders	Associate	37697378
Heart Defects Congenital	Associate	19156172
Heart Failure	Associate	37234159
Hemangioma	Associate	21179471, 31486960
Hematoma	Associate	34857025
Hemorrhage	Associate	34857025
Histiocytic Disorders Malignant	Associate	36890472
Histiocytic Sarcoma	Associate	30626916
Histiocytosis	Associate	26566875, 31768065
Histiocytosis Langerhans Cell	Associate	24982505, 25202140, 26637773, 27076591, 31806714, 32372223, 32738155, 34459688, 35231481, 35410720, 36083130, 36890472, 39727013
Histiocytosis Non Langerhans Cell	Associate	26566875
Histiocytosis Sinus	Associate	28664935, 36693681, 37115038
Hydrops Fetalis	Associate	35397126
Hyperglycemia	Associate	27606810
Hyperprolactinemia	Associate	24637312
Hypersensitivity Delayed	Associate	18039235
Hypoxia	Associate	27486656
Hypoxia Brain	Associate	26387536
Idiopathic Pulmonary Fibrosis	Associate	17331965
Infections	Associate	16051824, 23797008
Inflammation	Associate	15375172, 18424438, 19858308, 21990352, 23027623, 32063702, 35202001, 37339976
Inflammatory Bowel Diseases	Associate	28617917
Intraabdominal Infections	Associate	36693681
Intracranial Arteriovenous Malformations	Associate	31891627
Ischemia	Associate	26742633
Kidney Neoplasms	Associate	22180573
Language Development Disorders	Associate	18039235
Learning Disabilities	Associate	18039235
Leukemia	Associate	15031205, 17218385, 19414379, 19773546, 30964176, 31056348, 37322258
Leukemia Biphenotypic Acute	Associate	25313141
Leukemia Hairy Cell	Associate	12576324, 24241536, 29955146
Leukemia Lymphocytic Chronic B Cell	Associate	18292287, 22086413, 22160382
Leukemia Myeloid	Associate	11238126
Leukemia Myeloid Acute	Associate	11238126, 16467208
Lewy Body Disease	Associate	18508479
Liver Failure	Associate	25080058, 25794709
Lung Neoplasms	Associate	11166731, 20354455, 23362830, 24236184, 25351745, 31379227, 35709927, 37816716
Lymphoma	Associate	20117835, 34239803
Lymphoma B Cell	Associate	35834399
Lymphoma B Cell Marginal Zone	Associate	35609565
Lymphoma Follicular	Associate	27325104, 28533310, 33211828, 37561599
Lymphoma Non Hodgkin	Associate	29515122
Lymphoma T Cell	Associate	34239803
Malformations of Cortical Development Group I	Associate	19833733
Mammary Neoplasms Animal	Associate	16957420, 19457236
Medulloblastoma	Associate	12709419
Melanocytic nevus syndrome congenital	Associate	32847629
Melanoma	Associate	19362540, 19915144, 21477078, 22588879, 22589389, 23174022, 23444215, 24265154, 24466036, 25850435, 26084293, 26105199, 28387310, 28655712, 30543563 View all (10 more)
Melanoma Cutaneous Malignant	Associate	32483240, 34526571
Melorheostosis	Associate	29643386, 30138550, 30667555, 35189151
Mesothelioma	Associate	34526571, 35319795
Migraine Disorders	Associate	28801450
Mitral Valve Insufficiency	Associate	19156172
Mouth Diseases	Associate	33040161
Multiple Myeloma	Associate	17540843, 17854307, 21911831, 24594907
Multiple Pulmonary Nodules	Associate	36029220
Musculoskeletal Diseases	Associate	33482860
Nasal Polyps	Associate	24609540
Nasopharyngeal Carcinoma	Associate	29364482
Neoplasm Metastasis	Associate	26860843, 29208568, 35725908
Neoplasms	Associate	17218385, 18060073, 18398503, 20104618, 20442308, 21179471, 22212915, 22546478, 23917378, 24025253, 24846037, 24889489, 25394791, 25673644, 26566875 View all (31 more)
Neoplasms	Inhibit	22049531
Neoplasms	Stimulate	9223425
Neuroblastoma	Associate	22142829, 26384788, 27613601, 34807483
Neuroendocrine Tumors	Associate	20407018, 33144445
Neurofibrosarcoma	Associate	27494873
Neuronal intestinal pseudoobstruction	Associate	12580546
Nevus	Associate	32847629
Nevus Epithelioid and Spindle Cell	Associate	35319526
Nevus Pigmented	Associate	27057633
Noonan like syndrome	Associate	18854871
Noonan Syndrome	Associate	17704260, 18854871, 23321623, 25049390, 31163979, 38254922
Nystagmus Pathologic	Associate	18039235
Optic Nerve Glioma	Associate	12356354
Optic Nerve Hypoplasia	Associate	24637312
Oral Submucous Fibrosis	Associate	35961969
Oropharyngeal Neoplasms	Associate	15375172
Osteoma Osteoid	Associate	29643386, 30138550
Osteosarcoma	Associate	17412493
Ovarian Neoplasms	Associate	12644821, 18060073, 26526982, 35840928
Pancreatic Neoplasms	Associate	31988090, 36999792
Parkinson Disease	Associate	36593912, 37339976
Periodic fever familial autosomal dominant	Associate	31009059
Pituitary Neoplasms	Associate	29565480
Pneumonia	Associate	32063702
Prostatic Neoplasms	Associate	21081304, 22791812, 26983806, 29949147, 30575899
Puberty Precocious	Associate	24637312
Pulmonary Disease Chronic Obstructive	Associate	32063702
Pulmonary Valve Stenosis	Associate	24637312
Rectal Neoplasms	Associate	23027623
Schizophrenia	Associate	18319075, 35492247
Seizures	Associate	35524774
Spasms Infantile	Associate	36448195
Squamous Cell Carcinoma of Head and Neck	Associate	24192080, 31827134, 32381551, 33051434, 34526571, 36007290
Squamous Cell Carcinoma of Head and Neck	Stimulate	35961969
Status Asthmaticus	Stimulate	20926789
Stomach Neoplasms	Associate	15655810, 19858308, 23921907, 28522256, 34526571, 36203485, 39806853
Strabismus	Associate	18039235
Testicular Germ Cell Tumor	Associate	34526571
Thymoma	Associate	32463597, 34526571
Thyroid Cancer Papillary	Associate	19500021, 25294906, 31407636
Thyroid Neoplasms	Associate	19500021, 22090271, 30768848, 31407636
Triple Negative Breast Neoplasms	Associate	30108112, 34168046
Urinary Bladder Neoplasms	Associate	22049531
Uterine Cervical Neoplasms	Associate	32196955
Vascular Diseases	Associate	30138550

MAP2K1 (mitogen-activated protein kinase kinase 1)