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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26040
Gene name	SET binding protein 1
Gene symbol	SETBP1
Synonyms (NCBI Gene)	MRD29SEB
Chromosome	18
Chromosome location	18q12.3
Summary	This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3744824	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs145566816	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs147805077	G>A	Likely-pathogenic	Splice acceptor variant
rs267607038	T>C,G	Pathogenic, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607039	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607040	G>A	Pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607041	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs267607042	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs574196735	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs606231269	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs606231270	C>G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs606231271	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs606231272	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs606231273	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs672601342	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs797045952	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041469	A>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057519594	->T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064796181	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1391600900	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs1555705966	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706333	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706391	A>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706476	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555706499	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555706928	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1568097623	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1568234874	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568235086	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599367044	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1599367236	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599367726	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599368029	GATGTTCCAGCCG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1599368323	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599368734	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

276

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miRTarBase ID	miRNA	Experiments	Reference
MIRT714742	hsa-miR-4282	HITS-CLIP	19536157
MIRT714741	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT714740	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT714739	hsa-miR-4302	HITS-CLIP	19536157
MIRT714738	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT714737	hsa-miR-4264	HITS-CLIP	19536157
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT714736	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT714735	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT666451	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT616771	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT513311	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT513310	hsa-miR-6873-5p	PAR-CLIP	23446348
MIRT513308	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT513309	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT513306	hsa-miR-3908	PAR-CLIP	23446348
MIRT513307	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT513305	hsa-miR-3126-5p	PAR-CLIP	23446348
MIRT513303	hsa-miR-6875-5p	PAR-CLIP	23446348
MIRT513304	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT513301	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT513302	hsa-miR-4651	PAR-CLIP	23446348
MIRT513300	hsa-miR-608	PAR-CLIP	23446348
MIRT513299	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT513298	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT513297	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT513296	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT513295	hsa-miR-6769a-5p	PAR-CLIP	23446348
MIRT513294	hsa-miR-6769b-5p	PAR-CLIP	23446348
MIRT513293	hsa-miR-6742-5p	PAR-CLIP	23446348
MIRT513292	hsa-miR-4766-3p	PAR-CLIP	23446348
MIRT513291	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT513290	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT513289	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT439672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439671	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT439672	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439671	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT714742	hsa-miR-4282	HITS-CLIP	19536157
MIRT714741	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT714740	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT714739	hsa-miR-4302	HITS-CLIP	19536157
MIRT714738	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT714737	hsa-miR-4264	HITS-CLIP	19536157
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT714736	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT714735	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT666451	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT666450	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT666449	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT666448	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653899	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT653900	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT653898	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT653897	hsa-miR-4521	HITS-CLIP	23824327
MIRT653896	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT616771	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT513311	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT513310	hsa-miR-6873-5p	PAR-CLIP	23446348
MIRT513308	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT513309	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT513306	hsa-miR-3908	PAR-CLIP	23446348
MIRT513307	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT513305	hsa-miR-3126-5p	PAR-CLIP	23446348
MIRT513303	hsa-miR-6875-5p	PAR-CLIP	23446348
MIRT513304	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT513301	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT513302	hsa-miR-4651	PAR-CLIP	23446348
MIRT513300	hsa-miR-608	PAR-CLIP	23446348
MIRT513299	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT513298	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT513297	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT513296	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT513295	hsa-miR-6769a-5p	PAR-CLIP	23446348
MIRT513294	hsa-miR-6769b-5p	PAR-CLIP	23446348
MIRT513293	hsa-miR-6742-5p	PAR-CLIP	23446348
MIRT513292	hsa-miR-4766-3p	PAR-CLIP	23446348
MIRT513291	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT513290	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT513289	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT1339757	hsa-miR-1257	CLIP-seq
MIRT1339758	hsa-miR-146b-3p	CLIP-seq
MIRT1339759	hsa-miR-3173-5p	CLIP-seq
MIRT1339760	hsa-miR-4308	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT1339762	hsa-miR-874	CLIP-seq
MIRT1339763	hsa-miR-1255a	CLIP-seq
MIRT1339764	hsa-miR-1255b	CLIP-seq
MIRT1339765	hsa-miR-1273f	CLIP-seq
MIRT1339766	hsa-miR-1279	CLIP-seq
MIRT1339767	hsa-miR-1285	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT1339769	hsa-miR-143	CLIP-seq
MIRT1339770	hsa-miR-154	CLIP-seq
MIRT1339771	hsa-miR-197	CLIP-seq
MIRT1339772	hsa-miR-296-3p	CLIP-seq
MIRT1339773	hsa-miR-3074-5p	CLIP-seq
MIRT1339774	hsa-miR-3187-5p	CLIP-seq
MIRT1339775	hsa-miR-3661	CLIP-seq
MIRT1339776	hsa-miR-3684	CLIP-seq
MIRT1339777	hsa-miR-3689a-3p	CLIP-seq
MIRT1339778	hsa-miR-3689c	CLIP-seq
MIRT1339779	hsa-miR-425	CLIP-seq
MIRT1339780	hsa-miR-4424	CLIP-seq
MIRT1339781	hsa-miR-4425	CLIP-seq
MIRT1339782	hsa-miR-4448	CLIP-seq
MIRT1339783	hsa-miR-4480	CLIP-seq
MIRT1339784	hsa-miR-4487	CLIP-seq
MIRT1339785	hsa-miR-4660	CLIP-seq
MIRT1339786	hsa-miR-4708-5p	CLIP-seq
MIRT1339787	hsa-miR-4715-5p	CLIP-seq
MIRT1339788	hsa-miR-4722-3p	CLIP-seq
MIRT1339789	hsa-miR-4770	CLIP-seq
MIRT1339790	hsa-miR-4772-5p	CLIP-seq
MIRT1339791	hsa-miR-487a	CLIP-seq
MIRT1339792	hsa-miR-539	CLIP-seq
MIRT1339793	hsa-miR-569	CLIP-seq
MIRT1339794	hsa-miR-612	CLIP-seq
MIRT1339795	hsa-miR-631	CLIP-seq
MIRT1339796	hsa-miR-885-3p	CLIP-seq
MIRT1339797	hsa-miR-890	CLIP-seq
MIRT1339798	hsa-miR-944	CLIP-seq
MIRT2100453	hsa-miR-3159	CLIP-seq
MIRT2100454	hsa-miR-3160-5p	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2100456	hsa-miR-4477a	CLIP-seq
MIRT2100457	hsa-miR-596	CLIP-seq
MIRT2100458	hsa-miR-607	CLIP-seq
MIRT2325181	hsa-miR-1202	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT2325183	hsa-miR-1284	CLIP-seq
MIRT2325184	hsa-miR-302a	CLIP-seq
MIRT2325185	hsa-miR-302b	CLIP-seq
MIRT2325186	hsa-miR-302c	CLIP-seq
MIRT2325187	hsa-miR-302d	CLIP-seq
MIRT2325188	hsa-miR-302e	CLIP-seq
MIRT2325189	hsa-miR-3120-3p	CLIP-seq
MIRT2325190	hsa-miR-3194-5p	CLIP-seq
MIRT2325191	hsa-miR-324-5p	CLIP-seq
MIRT2325192	hsa-miR-3714	CLIP-seq
MIRT2325193	hsa-miR-372	CLIP-seq
MIRT2325194	hsa-miR-373	CLIP-seq
MIRT2325195	hsa-miR-3972	CLIP-seq
MIRT2325196	hsa-miR-4267	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2325198	hsa-miR-4433	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2325200	hsa-miR-4761-5p	CLIP-seq
MIRT2325201	hsa-miR-519a	CLIP-seq
MIRT2325202	hsa-miR-519b-3p	CLIP-seq
MIRT2325203	hsa-miR-519c-3p	CLIP-seq
MIRT2325204	hsa-miR-520a-3p	CLIP-seq
MIRT2325205	hsa-miR-520b	CLIP-seq
MIRT2325206	hsa-miR-520c-3p	CLIP-seq
MIRT2325207	hsa-miR-520d-3p	CLIP-seq
MIRT2325208	hsa-miR-520e	CLIP-seq
MIRT2325209	hsa-miR-548aa	CLIP-seq
MIRT2325210	hsa-miR-633	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2459150	hsa-miR-19a	CLIP-seq
MIRT2459151	hsa-miR-19b	CLIP-seq
MIRT2459152	hsa-miR-297	CLIP-seq
MIRT2459153	hsa-miR-3166	CLIP-seq
MIRT2459154	hsa-miR-455-5p	CLIP-seq
MIRT2459155	hsa-miR-4771	CLIP-seq
MIRT2459156	hsa-miR-548c-3p	CLIP-seq
MIRT2459157	hsa-miR-567	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT2620844	hsa-miR-136	CLIP-seq
MIRT2620845	hsa-miR-142-3p	CLIP-seq
MIRT2620846	hsa-miR-1827	CLIP-seq
MIRT2620847	hsa-miR-3183	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2620848	hsa-miR-3591-3p	CLIP-seq
MIRT2620849	hsa-miR-3653	CLIP-seq
MIRT2620850	hsa-miR-3658	CLIP-seq
MIRT2620851	hsa-miR-3687	CLIP-seq
MIRT2620852	hsa-miR-3978	CLIP-seq
MIRT2620853	hsa-miR-4255	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2620854	hsa-miR-4442	CLIP-seq
MIRT2620855	hsa-miR-4484	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2620856	hsa-miR-4680-5p	CLIP-seq
MIRT2620857	hsa-miR-4715-3p	CLIP-seq
MIRT2620858	hsa-miR-4723-3p	CLIP-seq
MIRT2620859	hsa-miR-4727-5p	CLIP-seq
MIRT2620860	hsa-miR-4747-5p	CLIP-seq
MIRT2620861	hsa-miR-4751	CLIP-seq
MIRT2620862	hsa-miR-4752	CLIP-seq
MIRT2620863	hsa-miR-4757-5p	CLIP-seq
MIRT2620864	hsa-miR-4769-3p	CLIP-seq
MIRT2620865	hsa-miR-4796-5p	CLIP-seq
MIRT2620866	hsa-miR-515-5p	CLIP-seq
MIRT2620867	hsa-miR-548an	CLIP-seq
MIRT2620868	hsa-miR-554	CLIP-seq
MIRT2620869	hsa-miR-580	CLIP-seq
MIRT2620870	hsa-miR-643	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2325181	hsa-miR-1202	CLIP-seq
MIRT2325182	hsa-miR-1252	CLIP-seq
MIRT2690494	hsa-miR-129-3p	CLIP-seq
MIRT1339768	hsa-miR-1343	CLIP-seq
MIRT2620844	hsa-miR-136	CLIP-seq
MIRT2620845	hsa-miR-142-3p	CLIP-seq
MIRT2620846	hsa-miR-1827	CLIP-seq
MIRT1339773	hsa-miR-3074-5p	CLIP-seq
MIRT2690495	hsa-miR-3143	CLIP-seq
MIRT2690496	hsa-miR-3182	CLIP-seq
MIRT2620847	hsa-miR-3183	CLIP-seq
MIRT2100455	hsa-miR-3190	CLIP-seq
MIRT2325190	hsa-miR-3194-5p	CLIP-seq
MIRT2620848	hsa-miR-3591-3p	CLIP-seq
MIRT2690497	hsa-miR-3611	CLIP-seq
MIRT2620849	hsa-miR-3653	CLIP-seq
MIRT2620850	hsa-miR-3658	CLIP-seq
MIRT2620851	hsa-miR-3687	CLIP-seq
MIRT2325195	hsa-miR-3972	CLIP-seq
MIRT2620852	hsa-miR-3978	CLIP-seq
MIRT2620853	hsa-miR-4255	CLIP-seq
MIRT2690498	hsa-miR-4268	CLIP-seq
MIRT2690499	hsa-miR-4297	CLIP-seq
MIRT2325197	hsa-miR-4432	CLIP-seq
MIRT2620854	hsa-miR-4442	CLIP-seq
MIRT1339782	hsa-miR-4448	CLIP-seq
MIRT1339783	hsa-miR-4480	CLIP-seq
MIRT2620855	hsa-miR-4484	CLIP-seq
MIRT2690500	hsa-miR-4488	CLIP-seq
MIRT2325199	hsa-miR-4533	CLIP-seq
MIRT2620856	hsa-miR-4680-5p	CLIP-seq
MIRT2690501	hsa-miR-4697-5p	CLIP-seq
MIRT2620857	hsa-miR-4715-3p	CLIP-seq
MIRT1339788	hsa-miR-4722-3p	CLIP-seq
MIRT2620858	hsa-miR-4723-3p	CLIP-seq
MIRT2620859	hsa-miR-4727-5p	CLIP-seq
MIRT2620860	hsa-miR-4747-5p	CLIP-seq
MIRT2620861	hsa-miR-4751	CLIP-seq
MIRT2620862	hsa-miR-4752	CLIP-seq
MIRT2620863	hsa-miR-4757-5p	CLIP-seq
MIRT2620864	hsa-miR-4769-3p	CLIP-seq
MIRT2620866	hsa-miR-515-5p	CLIP-seq
MIRT2690502	hsa-miR-542-3p	CLIP-seq
MIRT2690503	hsa-miR-543	CLIP-seq
MIRT2620867	hsa-miR-548an	CLIP-seq
MIRT2620868	hsa-miR-554	CLIP-seq
MIRT2690504	hsa-miR-572	CLIP-seq
MIRT2690505	hsa-miR-576-5p	CLIP-seq
MIRT2620869	hsa-miR-580	CLIP-seq
MIRT2690506	hsa-miR-637	CLIP-seq
MIRT2620870	hsa-miR-643	CLIP-seq
MIRT1339761	hsa-miR-7	CLIP-seq
MIRT2690507	hsa-miR-938	CLIP-seq
MIRT2690508	hsa-miR-942	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IDA	11231286
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA

MIM	HGNC	e!Ensembl
611060	15573	ENSG00000152217

Q9Y6X0

Protein name

SET-binding protein (SEB)

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies. {ECO:0000269|PubMed:11231286, ECO:0000269|PubMed:23832012}.

Sequence

MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEE
DELGSGRDVDSNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNL
ENYICPPEIKITIKQSGDQKVSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQ
AYERPQKHSTLHYDTGLPQDFTGDTLKPKHQQKSSSQNHMDWSTNSDSGPVTQNCFISPE
SGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNNNKDLLLGGVAPSPSSHSSPA
PPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNPDLDWVKNAQK
AFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGL
ETGGNAEKVIPGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPS
TMLREAVMATSDKLMLEPPSAYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVET
IHEGTSTSPVSPISREFPGTKKRKRRRNLAKLAQLVPGEDKPMSEMKFHKKVGKLGVLDK
KTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSPGAAAIESKLGKQINVSKRGT
IYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVASSPAAMHPLS
TQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLD
NPEAIPSDTSTKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEEL
ITKFQVFRISHRSYTFYHENPYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRG
RPAKTNDTMTKVPFLQGFSYPIPSGSYYAPYGMPYTSMPMMNLGYYGQYPAPLYLSHTLG
AASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGPVSMGLGDMQPSLNPPKVGSA
SLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERLSSADKELPLV
SEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMN
RKERSSYDSSMSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSL
LAASAATSDAVGSSLKKRFKRREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQ
RQSKTGNNFVKKRRGRPRKQPTQFDEDSRDQMPVLEKCIDLPSKRGQKPSLSPLVLEPAA
SQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPPPPPLPKTPRGGKRKHKPQAP
AQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP

Sequence length

1596

Interactions

View interactions

377

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic	rs1599368734	RCV001836885
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs267607038	RCV000855501
Developmental disorder	Pathogenic	rs2071332541	RCV003127394
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs267607038	RCV000855501
Intellectual disability	Pathogenic; Likely pathogenic	rs606231273, rs1568235086, rs2071295138, rs2071357855, rs2071360713	RCV005621885 RCV005231311 RCV001257735 RCV001257737 RCV001257736
Intellectual disability, autosomal dominant 29	Likely pathogenic; Pathogenic	rs2145108363, rs2145100544, rs2145092336, rs2145114965, rs2145592791, rs267607038, rs267607042, rs267607040, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs2511464232 View all (28 more)	RCV001376162 RCV001788513 RCV001733871 RCV001775412 RCV001808016 RCV001007919 RCV000850599 RCV005859449 RCV000144900 RCV000144901 RCV000144902 RCV000144903 RCV000144904 RCV000144905 RCV002471878 RCV002470274 RCV001265509 RCV003223444 RCV003148584 RCV003326667 RCV003224983 RCV001265340 RCV003326179 RCV003335795 RCV003444527 RCV004595086 RCV000417091 RCV001265337 RCV001265339 RCV001265286 RCV001265338 RCV003313977 RCV001194625 RCV001265285 RCV000995868 RCV001198532 RCV002287481 RCV001252617 RCV001253209 RCV001262219 RCV001265287 RCV001265510 RCV001270421
Lymphoma	Likely pathogenic	rs1599367044	RCV000790859
Neurodevelopmental disorder	Likely pathogenic	rs2145110485	RCV001375032
Schinzel-Giedion syndrome	Likely pathogenic; Pathogenic	rs2071377438, rs267607038, rs267607042, rs267607041, rs267607039, rs267607040, rs606231272, rs606231273, rs376371660, rs797045952, rs2511469942, rs74499808, rs1178702025, rs1568235086, rs2511467580	RCV001542795 RCV000001086 RCV000001087 RCV000001088 RCV000001089 RCV000001090 RCV000760256 RCV000763028 RCV000147458 RCV002510727 RCV000192674 RCV003314417 RCV003315119 RCV001007402 RCV002470936 RCV001816816 RCV001270421
See cases	Likely pathogenic; Pathogenic	rs1178702025	RCV003128414
SETBP1-related disorder	Likely pathogenic; Pathogenic	rs267607038, rs267607042, rs267607040, rs606231273, rs2071332541, rs886041469, rs74499808, rs1568235567, rs2511472457, rs202066186	RCV004532268 RCV004532269 RCV004532270 RCV004532637 RCV004538897 RCV000509457 RCV004701034 RCV004527941 RCV004531627 RCV004543985

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs3744824	RCV005888225
Colorectal cancer	Conflicting classifications of pathogenicity	rs3744824	RCV005888227
Delayed speech and language development	Conflicting classifications of pathogenicity	rs200881888	RCV000626931
Generalized joint hypermobility	Conflicting classifications of pathogenicity	rs200881888	RCV000626931
Hereditary spastic paraplegia 8	Conflicting classifications of pathogenicity	rs759235645	RCV000784992
Joint laxity	Conflicting classifications of pathogenicity	rs200881888	RCV000626931
Macrocephaly	Conflicting classifications of pathogenicity	rs200881888	RCV000626931
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs3744824	RCV005888226
Seizure	Conflicting classifications of pathogenicity	rs200881888	RCV000626931
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs3744824	RCV005888228

Show/Hide Text Mining Associations (81)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Hemolytic	Associate	35766510
Anemia Refractory	Associate	26874914
Apraxias	Associate	29463886, 33907317, 36117209
Attention Deficit Disorder with Hyperactivity	Associate	33867525
Autistic Disorder	Associate	36805818
Blast Crisis	Associate	25850813
Brain Diseases	Associate	38165902
Breast Neoplasms	Associate	36140725, 38087296
Carcinogenesis	Associate	35835912
Carcinoma Non Small Cell Lung	Associate	37535001
Cell Transformation Viral	Associate	23889083, 36727400
Chromosome 7 monosomy	Stimulate	19965692
Chronic Disease	Associate	35129130
Communication Disorders	Associate	33907317
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Stimulate	33867525
Developmental Disabilities	Associate	29631977, 30009840, 33867525, 36805818, 39350244
Disease	Associate	25217958
Dykes Markes Harper syndrome	Stimulate	35482940
Dyslexia	Associate	30009840
Dyslexia Acquired	Associate	30009840
Epilepsy	Associate	30977854
Esophageal Neoplasms	Associate	37445849
Feeding and Eating Disorders	Associate	35057575
Fetal akinesia syndrome X linked	Associate	31680123
GATA2 Deficiency	Associate	36727400
Genetic Diseases Inborn	Associate	25735936, 29241933
Hematologic Neoplasms	Associate	25553291, 28346496, 38165902
Huntington Disease	Associate	39350244
Hypereosinophilic Syndrome	Associate	27174585
Hyperkinesis	Associate	33867525
Intellectual Disability	Associate	25217958, 33867525, 36805818, 37798664
Language Development Disorders	Associate	27016271, 36805818
Leukemia	Associate	19965692, 28346496, 35482940
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35129130
Leukemia Myeloid	Associate	25395418
Leukemia Myeloid Acute	Associate	19965692, 22873195, 32461631, 33822276, 33914911, 34343258
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	23222956, 23604229, 25343957, 28314085, 30635983, 31692115, 32573691, 33914911, 36601682, 38066919, 39337700
Leukemia Myelomonocytic Chronic	Associate	23604229, 23889083, 25850813, 26648538, 26771811, 27385790, 28209919, 30635983
Leukemia Myelomonocytic Juvenile	Associate	25395418, 38385260
Leukemia Neutrophilic Chronic	Associate	23604229, 25316523, 25850813, 28209919, 31315541, 33822276, 34068566, 35482940
Leukemia Prolymphocytic T Cell	Associate	1572690
Lipoma	Associate	26202160
Lupus Erythematosus Systemic	Associate	27110576
Lymphoma T Cell Cutaneous	Associate	9717967
Mannose Binding Protein Deficiency	Associate	36805818
Mastocytosis Systemic	Associate	23958953
Melanoma	Associate	37535001
Meningioma	Associate	32949309
Mental Retardation Autosomal Recessive 7	Associate	36113068
Mitochondrial Diseases	Associate	25735936
Monoclonal Gammopathy of Undetermined Significance	Associate	30134812
Monosomy	Associate	24127063
Multiple Myeloma	Associate	30134812
Muscle Hypotonia	Associate	33867525, 38165902
Myelodysplastic Myeloproliferative Diseases	Associate	32573691, 34775472, 35766510, 36594191, 39337700
Myelodysplastic Syndromes	Associate	23889083, 24127063, 28220884, 28913558, 32573691, 34775472, 35766510, 36054881, 36109871, 36601682, 40725152
Neoplasms	Associate	24127063, 28346496, 28913558, 30134812, 32949309, 35482940, 37535001, 38165902
Neoplasms	Inhibit	36140725
Neoplasms Plasma Cell	Associate	26389776
Neoplasms Second Primary	Associate	28076841
Neurodegenerative Diseases	Associate	34193871, 38165902
Neurologic Disease Infantile Multisystem with Osseous Fragility	Associate	38165902
Neuromuscular Diseases	Associate	25735936
Neutropenia	Associate	35766510
Neutrophilia Hereditary	Associate	26389776
Obesity	Associate	30397228
Ovarian Neoplasms	Associate	37730669
Philadelphia Chromosome	Associate	35129130
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	17233820, 30942411
Primary Myelofibrosis	Associate	22873195, 23604229
Prostatic Neoplasms	Associate	36045292
Pruritus	Associate	33822276
Schinzel Giedion syndrome	Associate	23222956, 28346496, 32460883, 34193871, 36113068, 38165902
Speech Disorders	Associate	39931922
Stomach Neoplasms	Associate	37150818
Strabismus	Associate	38165902
Thrombocytopenia	Associate	25850813
Thrombocytosis	Associate	35129130
Ulnar mammary syndrome	Associate	37150818
Urinary Bladder Neoplasms	Associate	34315402, 35090432, 35958598, 37150818
Vision Disorders	Associate	33867525

SETBP1 (SET binding protein 1)