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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23013
Gene name	Spen family transcriptional repressor
Gene symbol	SPEN
Synonyms (NCBI Gene)	HIAA0929MINTRATARSRBM15CSHARP
Chromosome	1
Chromosome location	1p36.21-p36.13
Summary	This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestrat

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019521	hsa-miR-151a-5p	Sequencing	20371350
MIRT051293	hsa-miR-16-5p	CLASH	23622248
MIRT049048	hsa-miR-92a-3p	CLASH	23622248
MIRT048159	hsa-miR-196a-5p	CLASH	23622248
MIRT046031	hsa-miR-125b-5p	CLASH	23622248
MIRT045089	hsa-miR-186-5p	CLASH	23622248
MIRT044789	hsa-miR-320a	CLASH	23622248
MIRT044364	hsa-miR-106b-5p	CLASH	23622248
MIRT043756	hsa-miR-328-3p	CLASH	23622248
MIRT043465	hsa-miR-331-3p	CLASH	23622248
MIRT043099	hsa-miR-324-5p	CLASH	23622248
MIRT042502	hsa-miR-423-3p	CLASH	23622248
MIRT041415	hsa-miR-193b-3p	CLASH	23622248
MIRT041415	hsa-miR-193b-3p	CLASH	23622248
MIRT039949	hsa-miR-615-3p	CLASH	23622248
MIRT039166	hsa-miR-769-5p	CLASH	23622248
MIRT038656	hsa-miR-23b-5p	CLASH	23622248
MIRT037187	hsa-miR-877-3p	CLASH	23622248
MIRT755932	hsa-miR-6779-5p	Luciferase reporter assayWestern blottingqRT-PCRin vitro cullelar assaysFlow cytometry	36087384
MIRT1383699	hsa-miR-1238	CLIP-seq
MIRT1383700	hsa-miR-1271	CLIP-seq
MIRT1383701	hsa-miR-1273f	CLIP-seq
MIRT1383702	hsa-miR-1286	CLIP-seq
MIRT1383703	hsa-miR-182	CLIP-seq
MIRT1383704	hsa-miR-18a	CLIP-seq
MIRT1383705	hsa-miR-18b	CLIP-seq
MIRT1383706	hsa-miR-214	CLIP-seq
MIRT1383707	hsa-miR-300	CLIP-seq
MIRT1383708	hsa-miR-30a	CLIP-seq
MIRT1383709	hsa-miR-30b	CLIP-seq
MIRT1383710	hsa-miR-30c	CLIP-seq
MIRT1383711	hsa-miR-30d	CLIP-seq
MIRT1383712	hsa-miR-30e	CLIP-seq
MIRT1383713	hsa-miR-3117-5p	CLIP-seq
MIRT1383714	hsa-miR-3120-3p	CLIP-seq
MIRT1383715	hsa-miR-3124-5p	CLIP-seq
MIRT1383716	hsa-miR-3128	CLIP-seq
MIRT1383717	hsa-miR-329	CLIP-seq
MIRT1383718	hsa-miR-337-5p	CLIP-seq
MIRT1383719	hsa-miR-34a	CLIP-seq
MIRT1383720	hsa-miR-34c-5p	CLIP-seq
MIRT1383721	hsa-miR-3607-3p	CLIP-seq
MIRT1383722	hsa-miR-3617	CLIP-seq
MIRT1383723	hsa-miR-3618	CLIP-seq
MIRT1383724	hsa-miR-362-3p	CLIP-seq
MIRT1383725	hsa-miR-3692	CLIP-seq
MIRT1383726	hsa-miR-381	CLIP-seq
MIRT1383727	hsa-miR-3941	CLIP-seq
MIRT1383728	hsa-miR-4436a	CLIP-seq
MIRT1383729	hsa-miR-4481	CLIP-seq
MIRT1383730	hsa-miR-449a	CLIP-seq
MIRT1383731	hsa-miR-449b	CLIP-seq
MIRT1383732	hsa-miR-4504	CLIP-seq
MIRT1383733	hsa-miR-4537	CLIP-seq
MIRT1383734	hsa-miR-4666-3p	CLIP-seq
MIRT1383735	hsa-miR-4718	CLIP-seq
MIRT1383736	hsa-miR-4720-5p	CLIP-seq
MIRT1383737	hsa-miR-4745-5p	CLIP-seq
MIRT1383738	hsa-miR-4758-5p	CLIP-seq
MIRT1383739	hsa-miR-4766-5p	CLIP-seq
MIRT1383740	hsa-miR-4778-3p	CLIP-seq
MIRT1383741	hsa-miR-4783-3p	CLIP-seq
MIRT1383742	hsa-miR-4789-5p	CLIP-seq
MIRT1383743	hsa-miR-4799-3p	CLIP-seq
MIRT1383744	hsa-miR-520a-5p	CLIP-seq
MIRT1383745	hsa-miR-525-5p	CLIP-seq
MIRT1383746	hsa-miR-542-3p	CLIP-seq
MIRT1383747	hsa-miR-545	CLIP-seq
MIRT1383748	hsa-miR-548g	CLIP-seq
MIRT1383749	hsa-miR-570	CLIP-seq
MIRT1383750	hsa-miR-603	CLIP-seq
MIRT1383751	hsa-miR-641	CLIP-seq
MIRT1383752	hsa-miR-96	CLIP-seq
MIRT2114838	hsa-miR-1233	CLIP-seq
MIRT1383700	hsa-miR-1271	CLIP-seq
MIRT2114839	hsa-miR-1285	CLIP-seq
MIRT1383702	hsa-miR-1286	CLIP-seq
MIRT2114840	hsa-miR-1323	CLIP-seq
MIRT1383703	hsa-miR-182	CLIP-seq
MIRT1383706	hsa-miR-214	CLIP-seq
MIRT2114841	hsa-miR-217	CLIP-seq
MIRT2114842	hsa-miR-224	CLIP-seq
MIRT2114843	hsa-miR-2355-3p	CLIP-seq
MIRT2114844	hsa-miR-2467-3p	CLIP-seq
MIRT1383708	hsa-miR-30a	CLIP-seq
MIRT1383709	hsa-miR-30b	CLIP-seq
MIRT1383710	hsa-miR-30c	CLIP-seq
MIRT1383711	hsa-miR-30d	CLIP-seq
MIRT1383712	hsa-miR-30e	CLIP-seq
MIRT1383713	hsa-miR-3117-5p	CLIP-seq
MIRT2114845	hsa-miR-3121-5p	CLIP-seq
MIRT1383715	hsa-miR-3124-5p	CLIP-seq
MIRT2114846	hsa-miR-3158-5p	CLIP-seq
MIRT2114847	hsa-miR-3187-5p	CLIP-seq
MIRT2114848	hsa-miR-323b-5p	CLIP-seq
MIRT1383721	hsa-miR-3607-3p	CLIP-seq
MIRT2114849	hsa-miR-3678-3p	CLIP-seq
MIRT2114850	hsa-miR-3691-3p	CLIP-seq
MIRT1383725	hsa-miR-3692	CLIP-seq
MIRT2114851	hsa-miR-3940-5p	CLIP-seq
MIRT2114852	hsa-miR-412	CLIP-seq
MIRT2114853	hsa-miR-4292	CLIP-seq
MIRT2114854	hsa-miR-4418	CLIP-seq
MIRT2114855	hsa-miR-4420	CLIP-seq
MIRT2114856	hsa-miR-4421	CLIP-seq
MIRT2114857	hsa-miR-4450	CLIP-seq
MIRT2114858	hsa-miR-4507	CLIP-seq
MIRT2114859	hsa-miR-4525	CLIP-seq
MIRT2114860	hsa-miR-4646-5p	CLIP-seq
MIRT2114861	hsa-miR-4699-5p	CLIP-seq
MIRT1383735	hsa-miR-4718	CLIP-seq
MIRT2114862	hsa-miR-4735-5p	CLIP-seq
MIRT2114863	hsa-miR-4747-5p	CLIP-seq
MIRT2114864	hsa-miR-4787-5p	CLIP-seq
MIRT2114865	hsa-miR-509-3-5p	CLIP-seq
MIRT2114866	hsa-miR-509-5p	CLIP-seq
MIRT1383744	hsa-miR-520a-5p	CLIP-seq
MIRT1383745	hsa-miR-525-5p	CLIP-seq
MIRT2114867	hsa-miR-548a-3p	CLIP-seq
MIRT2114868	hsa-miR-548e	CLIP-seq
MIRT2114869	hsa-miR-548f	CLIP-seq
MIRT1383748	hsa-miR-548g	CLIP-seq
MIRT2114870	hsa-miR-548o	CLIP-seq
MIRT2114871	hsa-miR-612	CLIP-seq
MIRT2114872	hsa-miR-676	CLIP-seq
MIRT2114873	hsa-miR-759	CLIP-seq
MIRT1383752	hsa-miR-96	CLIP-seq
MIRT1383700	hsa-miR-1271	CLIP-seq
MIRT1383702	hsa-miR-1286	CLIP-seq
MIRT1383703	hsa-miR-182	CLIP-seq
MIRT1383706	hsa-miR-214	CLIP-seq
MIRT2114842	hsa-miR-224	CLIP-seq
MIRT1383708	hsa-miR-30a	CLIP-seq
MIRT1383709	hsa-miR-30b	CLIP-seq
MIRT1383710	hsa-miR-30c	CLIP-seq
MIRT1383711	hsa-miR-30d	CLIP-seq
MIRT1383712	hsa-miR-30e	CLIP-seq
MIRT1383713	hsa-miR-3117-5p	CLIP-seq
MIRT1383714	hsa-miR-3120-3p	CLIP-seq
MIRT1383715	hsa-miR-3124-5p	CLIP-seq
MIRT1383717	hsa-miR-329	CLIP-seq
MIRT1383718	hsa-miR-337-5p	CLIP-seq
MIRT1383721	hsa-miR-3607-3p	CLIP-seq
MIRT1383722	hsa-miR-3617	CLIP-seq
MIRT1383723	hsa-miR-3618	CLIP-seq
MIRT1383724	hsa-miR-362-3p	CLIP-seq
MIRT1383725	hsa-miR-3692	CLIP-seq
MIRT1383727	hsa-miR-3941	CLIP-seq
MIRT1383728	hsa-miR-4436a	CLIP-seq
MIRT2114857	hsa-miR-4450	CLIP-seq
MIRT2114859	hsa-miR-4525	CLIP-seq
MIRT1383733	hsa-miR-4537	CLIP-seq
MIRT2337581	hsa-miR-4652-3p	CLIP-seq
MIRT1383735	hsa-miR-4718	CLIP-seq
MIRT1383739	hsa-miR-4766-5p	CLIP-seq
MIRT1383741	hsa-miR-4783-3p	CLIP-seq
MIRT1383742	hsa-miR-4789-5p	CLIP-seq
MIRT1383747	hsa-miR-545	CLIP-seq
MIRT1383748	hsa-miR-548g	CLIP-seq
MIRT1383749	hsa-miR-570	CLIP-seq
MIRT1383750	hsa-miR-603	CLIP-seq
MIRT1383751	hsa-miR-641	CLIP-seq
MIRT2337582	hsa-miR-934	CLIP-seq
MIRT1383752	hsa-miR-96	CLIP-seq
MIRT1383707	hsa-miR-300	CLIP-seq
MIRT1383708	hsa-miR-30a	CLIP-seq
MIRT1383709	hsa-miR-30b	CLIP-seq
MIRT1383710	hsa-miR-30c	CLIP-seq
MIRT1383711	hsa-miR-30d	CLIP-seq
MIRT1383712	hsa-miR-30e	CLIP-seq
MIRT2460399	hsa-miR-380	CLIP-seq
MIRT1383726	hsa-miR-381	CLIP-seq
MIRT2460400	hsa-miR-3924	CLIP-seq
MIRT2460401	hsa-miR-4422	CLIP-seq
MIRT2460402	hsa-miR-4495	CLIP-seq
MIRT2460403	hsa-miR-624	CLIP-seq
MIRT1383699	hsa-miR-1238	CLIP-seq
MIRT1383702	hsa-miR-1286	CLIP-seq
MIRT2631111	hsa-miR-1289	CLIP-seq
MIRT1383707	hsa-miR-300	CLIP-seq
MIRT1383713	hsa-miR-3117-5p	CLIP-seq
MIRT1383714	hsa-miR-3120-3p	CLIP-seq
MIRT1383715	hsa-miR-3124-5p	CLIP-seq
MIRT1383716	hsa-miR-3128	CLIP-seq
MIRT2631112	hsa-miR-3198	CLIP-seq
MIRT1383718	hsa-miR-337-5p	CLIP-seq
MIRT1383719	hsa-miR-34a	CLIP-seq
MIRT1383720	hsa-miR-34c-5p	CLIP-seq
MIRT2631113	hsa-miR-3647-3p	CLIP-seq
MIRT1383725	hsa-miR-3692	CLIP-seq
MIRT1383726	hsa-miR-381	CLIP-seq
MIRT2631114	hsa-miR-4294	CLIP-seq
MIRT2631115	hsa-miR-4309	CLIP-seq
MIRT2631116	hsa-miR-4427	CLIP-seq
MIRT1383728	hsa-miR-4436a	CLIP-seq
MIRT1383729	hsa-miR-4481	CLIP-seq
MIRT1383730	hsa-miR-449a	CLIP-seq
MIRT1383731	hsa-miR-449b	CLIP-seq
MIRT2631117	hsa-miR-4517	CLIP-seq
MIRT1383733	hsa-miR-4537	CLIP-seq
MIRT1383734	hsa-miR-4666-3p	CLIP-seq
MIRT2631118	hsa-miR-4680-3p	CLIP-seq
MIRT1383735	hsa-miR-4718	CLIP-seq
MIRT1383736	hsa-miR-4720-5p	CLIP-seq
MIRT1383737	hsa-miR-4745-5p	CLIP-seq
MIRT1383738	hsa-miR-4758-5p	CLIP-seq
MIRT1383742	hsa-miR-4789-5p	CLIP-seq
MIRT1383743	hsa-miR-4799-3p	CLIP-seq
MIRT2631119	hsa-miR-520d-5p	CLIP-seq
MIRT2631120	hsa-miR-524-5p	CLIP-seq
MIRT1383747	hsa-miR-545	CLIP-seq
MIRT1383702	hsa-miR-1286	CLIP-seq
MIRT2631111	hsa-miR-1289	CLIP-seq
MIRT1383707	hsa-miR-300	CLIP-seq
MIRT1383713	hsa-miR-3117-5p	CLIP-seq
MIRT1383715	hsa-miR-3124-5p	CLIP-seq
MIRT1383716	hsa-miR-3128	CLIP-seq
MIRT2631112	hsa-miR-3198	CLIP-seq
MIRT1383719	hsa-miR-34a	CLIP-seq
MIRT1383720	hsa-miR-34c-5p	CLIP-seq
MIRT1383725	hsa-miR-3692	CLIP-seq
MIRT1383726	hsa-miR-381	CLIP-seq
MIRT2631114	hsa-miR-4294	CLIP-seq
MIRT2631115	hsa-miR-4309	CLIP-seq
MIRT1383729	hsa-miR-4481	CLIP-seq
MIRT1383730	hsa-miR-449a	CLIP-seq
MIRT1383731	hsa-miR-449b	CLIP-seq
MIRT1383734	hsa-miR-4666-3p	CLIP-seq
MIRT1383735	hsa-miR-4718	CLIP-seq
MIRT1383736	hsa-miR-4720-5p	CLIP-seq
MIRT1383737	hsa-miR-4745-5p	CLIP-seq
MIRT1383738	hsa-miR-4758-5p	CLIP-seq
MIRT1383742	hsa-miR-4789-5p	CLIP-seq
MIRT1383743	hsa-miR-4799-3p	CLIP-seq
MIRT2691865	hsa-miR-495	CLIP-seq
MIRT2691866	hsa-miR-548ac	CLIP-seq
MIRT2691867	hsa-miR-548ae	CLIP-seq
MIRT2691868	hsa-miR-548aj	CLIP-seq
MIRT2691869	hsa-miR-548am	CLIP-seq
MIRT2691870	hsa-miR-548d-3p	CLIP-seq
MIRT2691871	hsa-miR-548x	CLIP-seq
MIRT2691872	hsa-miR-548z	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16287852
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	16287852
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16129689, 16287852, 17474147, 21102556, 24268649, 25609649, 33961781, 35044719
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16287852
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IMP	25843628
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16129689
GO:0050769	Process	Positive regulation of neurogenesis	IMP	16287852
GO:0060816	Process	Random inactivation of X chromosome	IDA	25843628
GO:0060816	Process	Random inactivation of X chromosome	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16287852
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
613484	17575	ENSG00000065526

Q96T58

Protein name

Msx2-interacting protein (SMART/HDAC1-associated repressor protein) (SPEN homolog)

Protein function

May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive eleme

PDB

1OW1 , 2RT5 , 4P6Q , 7Z1K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	8 → 75	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	337 → 407	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	440 → 507	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	519 → 583	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF07744	SPOC	3499 → 3664	SPOC domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high level in brain, testis, spleen and thymus. Expressed at intermediate level in kidney, liver, mammary gland and skin.

Sequence

MVRETRHLWVGNLPENVREEKIIEHFKRYGRVESVKILPKRGSEGGVAAFVDFVDIKSAQ
KAHNSVNKMGDRDLRTDYNEPGTIPSAARGLDDTVSIASRSREVSGFRGGGGGPAYGPPP
SLHAREGRYERRLDGASDNRERAYEHSAYGHHERGTGGFDRTRHYDQDYYRDPRERTLQH
GLYYASRSRSPNRFDAHDPRYEPRAREQFTLPSVVHRDIYRDDITREVRGRRPERNYQHS
RSRSPHSSQSRNQSPQRLASQASRPTRSPSGSGSRSRSSSSDSISSSSSTSSDSSDSSSS
SSDDSPARSVQSAAVPAPTSQLLSSLEKDEPRKSFGIKVQNLPVRSTDTSLKDGLFHEFK
KFGKVTSVQIHGTSEERYGLVFFRQQEDQEKALTASKGKLFFGMQIEVTAWIGPETESEN
EFRPLDERIDEFHPKATRTLFIGNLEKTTTYHDLRNIFQRFGEIVDIDIKKVNGVPQYAF
LQYCDIASVCKAIKKMDGEYLGNNRLKLGFGKSMPTNCVWLDGLSSNVSDQYLTRHFCRY
GPVVKVVFDRLKGMALVLYNEIEYAQAAVKETKGRKIGGNKIKVDFANRESQLAFYHCME
KSGQDIRDFYEMLAERREERRASYDYNQDRTYYESVRTPGTYPEDSRRDYPARGREFYSE
WETYQGDYYESRYYDDPREYRDYRNDPYEQDIREYSYRQRERERERERFESDRDRDHERR
PIERSQSPVHLRRPQSPGASPSQAERLPSDSERRLYSRSSDRSGSCSSLSPPRYEKLDKS
RLERYTKNEKTDKERTFDPERVERERRLIRKEKVEKDKTDKQKRKGKVHSPSSQSSETDQ
ENEREQSPEKPRSCNKLSREKADKEGIAKNRLELMPCVVLTRVKEKEGKVIDHTPVEKLK
AKLDNDTVKSSALDQKLQVSQTEPAKSDLSKLESVRMKVPKEKGLSSHVEVVEKEGRLKA
RKHLKPEQPADGVSAVDLEKLEARKRRFADSNLKAEKQKPEVKKSSPEMEDARVLSKKQP
DVSSREVILLREGEAERKPVRKEILKRESKKIKLDRLNTVASPKDCQELASISVGSGSRP
SSDLQARLGELAGESVENQEVQSKKPIPSKPQLKQLQVLDDQGPEREDVRKNYCSLRDET
PERKSGQEKSHSVNTEEKIGIDIDHTQSYRKQMEQSRRKQQMEMEIAKSEKFGSPKKDVD
EYERRSLVHEVGKPPQDVTDDSPPSKKKRMDHVDFDICTKRERNYRSSRQISEDSERTGG
SPSVRHGSFHEDEDPIGSPRLLSVKGSPKVDEKVLPYSNITVREESLKFNPYDSSRREQM
ADMAKIKLSVLNSEDELNRWDSQMKQDAGRFDVSFPNSIIKRDSLRKRSVRDLEPGEVPS
DSDEDGEHKSHSPRASALYESSRLSFLLRDREDKLRERDERLSSSLERNKFYSFALDKTI
TPDTKALLERAKSLSSSREENWSFLDWDSRFANFRNNKDKEKVDSAPRPIPSWYMKKKKI
RTDSEGKMDDKKEDHKEEEQERQELFASRFLHSSIFEQDSKRLQHLERKEEDSDFISGRI
YGKQTSEGANSTTDSIQEPVVLFHSRFMELTRMQQKEKEKDQKPKEVEKQEDTENHPKTP
ESAPENKDSELKTPPSVGPPSVTVVTLESAPSALEKTTGDKTVEAPLVTEEKTVEPATVS
EEAKPASEPAPAPVEQLEQVDLPPGADPDKEAAMMPAGVEEGSSGDQPPYLDAKPPTPGA
SFSQAESNVDPEPDSTQPLSKPAQKSEEANEPKAEKPDATADAEPDANQKAEAAPESQPP
ASEDLEVDPPVAAKDKKPNKSKRSKTPVQAAAVSIVEKPVTRKSERIDREKLKRSNSPRG
EAQKLLELKMEAEKITRTASKNSAADLEHPEPSLPLSRTRRRNVRSVYATMGDHENRSPV
KEPVEQPRVTRKRLERELQEAAAVPTTPRRGRPPKTRRRADEEEENEAKEPAETLKPPEG
WRSPRSQKTAAGGGPQGKKGKNEPKVDATRPEATTEVGPQIGVKESSMEPKAAEEEAGSE
QKRDRKDAGTDKNPPETAPVEVVEKKPAPEKNSKSKRGRSRNSRLAVDKSASLKNVDAAV
SPRGAAAQAGERESGVVAVSPEKSESPQKEDGLSSQLKSDPVDPDKEPEKEDVSASGPSP
EATQLAKQMELEQAVEHIAKLAEASASAAYKADAPEGLAPEDRDKPAHQASETELAAAIG
SIINDISGEPENFPAPPPYPGESQTDLQPPAGAQALQPSEEGMETDEAVSGILETEAATE
SSRPPVNAPDPSAGPTDTKEARGNSSETSHSVPEAKGSKEVEVTLVRKDKGRQKTTRSRR
KRNTNKKVVAPVESHVPESNQAQGESPAANEGTTVQHPEAPQEEKQSEKPHSTPPQSCTS
DLSKIPSTENSSQEISVEERTPTKASVPPDLPPPPQPAPVDEEPQARFRVHSIIESDPVT
PPSDPSIPIPTLPSVTAAKLSPPVASGGIPHQSPPTKVTEWITRQEEPRAQSTPSPALPP
DTKASDVDTSSSTLRKILMDPKYVSATSVTSTSVTTAIAEPVSAAPCLHEAPPPPVDSKK
PLEEKTAPPVTNNSEIQASEVLVAADKEKVAPVIAPKITSVISRMPVSIDLENSQKITLA
KPAPQTLTGLVSALTGLVNVSLVPVNALKGPVKGSVTTLKSLVSTPAGPVNVLKGPVNVL
TGPVNVLTTPVNATVGTVNAAPGTVNAAASAVNATASAVTVTAGAVTAASGGVTATTGTV
TMAGAVIAPSTKCKQRASANENSRFHPGSMPVIDDRPADAGSGAGLRVNTSEGVVLLSYS
GQKTEGPQRISAKISQIPPASAMDIEFQQSVSKSQVKPDSVTASQPPSKGPQAPAGYANV
ATHSTLVLTAQTYNASPVISSVKADRPSLEKPEPIHLSVSTPVTQGGTVKVLTQGINTPP
VLVHNQLVLTPSIVTTNKKLADPVTLKIETKVLQPANLGSTLTPHHPPALPSKLPTEVNH
VPSGPSIPADRTVSHLAAAKLDAHSPRPSGPGPSSFPRASHPSSTASTALSTNATVMLAA
GIPVPQFISSIHPEQSVIMPPHSITQTVSLSHLSQGEVRMNTPTLPSITYSIRPEALHSP
RAPLQPQQIEVRAPQRASTPQPAPAGVPALASQHPPEEEVHYHLPVARATAPVQSEVLVM
QSEYRLHPYTVPRDVRIMVHPHVTAVSEQPRAADGVVKVPPASKAPQQPGKEAAKTPDAK
AAPTPTPAPVPVPVPLPAPAPAPHGEARILTVTPSNQLQGLPLTPPVVVTHGVQIVHSSG
ELFQEYRYGDIRTYHPPAQLTHTQFPAASSVGLPSRTKTAAQGPPPEGEPLQPPQPVQST
QPAQPAPPCPPSQLGQPGQPPSSKMPQVSQEAKGTQTGVEQPRLPAGPANRPPEPHTQVQ
RAQAETGPTSFPSPVSVSMKPDLPVSLPTQTAPKQPLFVPTTSGPSTPPGLVLPHTEFQP
APKQDSSPHLTSQRPVDMVQLLKKYPIVWQGLLALKNDTAAVQLHFVSGNNVLAHRSLPL
SEGGPPLRIAQRMRLEATQLEGVARRMTVETDYCLLLALPCGRDQEDVVSQTESLKAAFI
TYLQAKQAAGIINVPNPGSNQPAYVLQIFPPCEFSESHLSRLAPDLLASISNISPHLMIV
IASV

Sequence length

3664

Interactions

View interactions

	KEGG
	Notch signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs2071243064	RCV003127378	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy	Likely pathogenic; Pathogenic	rs2148740878	RCV001526513	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoepithelial tumor	Pathogenic	rs2523082174	RCV002463900	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs764595221	RCV001264685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2148739946, rs2148740780	RCV002274405 RCV002274428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radio-Tartaglia syndrome	Pathogenic; Likely pathogenic	rs2148741741, rs2148739431, rs2071187754, rs2148740737, rs2148738318, rs2523081439, rs2523081142, rs2522936339, rs1557761571, rs772105874, rs2523086867, rs2523087999, rs2523096849, rs2523072429, rs2523080343 View all (13 more)	RCV001733799 RCV001733859 RCV001800259 RCV001808038 RCV002244187 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPEN-related disorder	Likely pathogenic	rs2523072296, rs2523095875, rs2523075382	RCV003391349 RCV003933833 RCV003934255	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (40)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
1P36 DELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DELAY-CONGENITAL HEART DEFECTS-INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SPEN (spen family transcriptional repressor)