BCL9 (BCL9 transcription coactivator)

Gene

• Entrez ID: 607
• Gene name: BCL9 transcription coactivator
• Gene symbol: BCL9
• Synonyms (NCBI Gene): LGS
• Chromosome: 1
• Chromosome location: 1q21.2
• Summary: BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancie

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027374	hsa-miR-101-3p	Sequencing	20371350
MIRT027816	hsa-miR-98-5p	Microarray	19088304
MIRT049671	hsa-miR-92a-3p	CLASH	23622248
MIRT040481	hsa-miR-605-5p	CLASH	23622248
MIRT052960	hsa-miR-30c-2-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	22024689
MIRT054614	hsa-miR-30a-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054614	hsa-miR-30a-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054614	hsa-miR-30a-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054615	hsa-miR-30b-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054615	hsa-miR-30b-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054615	hsa-miR-30b-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054615	hsa-miR-30b-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054616	hsa-miR-30c-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054616	hsa-miR-30c-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054616	hsa-miR-30c-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	24599134
MIRT054616	hsa-miR-30c-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, LacZ reporter assay, qRT-PCR, Western blot	24599134
MIRT054617	hsa-miR-30d-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054617	hsa-miR-30d-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054617	hsa-miR-30d-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT054617	hsa-miR-30d-5p	Immunofluorescence, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24599134
MIRT734152	hsa-miR-140-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	33838016
MIRT756436	hsa-miR-122-5p	Western blotting, qRT-PCR	35229987
MIRT819808	hsa-miR-1226	CLIP-seq
MIRT819809	hsa-miR-1252	CLIP-seq
MIRT819810	hsa-miR-1343	CLIP-seq
MIRT819811	hsa-miR-140-5p	CLIP-seq
MIRT819812	hsa-miR-181a	CLIP-seq
MIRT819813	hsa-miR-181b	CLIP-seq
MIRT819814	hsa-miR-181c	CLIP-seq
MIRT819815	hsa-miR-181d	CLIP-seq
MIRT819816	hsa-miR-185	CLIP-seq
MIRT819817	hsa-miR-2467-3p	CLIP-seq
MIRT819818	hsa-miR-30a	CLIP-seq
MIRT819819	hsa-miR-30b	CLIP-seq
MIRT819820	hsa-miR-30c	CLIP-seq
MIRT819821	hsa-miR-30d	CLIP-seq
MIRT819822	hsa-miR-30e	CLIP-seq
MIRT819823	hsa-miR-3150b-3p	CLIP-seq
MIRT819824	hsa-miR-3192	CLIP-seq
MIRT819825	hsa-miR-3194-3p	CLIP-seq
MIRT819826	hsa-miR-330-3p	CLIP-seq
MIRT819827	hsa-miR-3610	CLIP-seq
MIRT819828	hsa-miR-3613-3p	CLIP-seq
MIRT819829	hsa-miR-3664-5p	CLIP-seq
MIRT819830	hsa-miR-3679-3p	CLIP-seq
MIRT819831	hsa-miR-3689d	CLIP-seq
MIRT819832	hsa-miR-3690	CLIP-seq
MIRT819833	hsa-miR-371-5p	CLIP-seq
MIRT819834	hsa-miR-371b-5p	CLIP-seq
MIRT819835	hsa-miR-3919	CLIP-seq
MIRT819836	hsa-miR-3921	CLIP-seq
MIRT819837	hsa-miR-3925-5p	CLIP-seq
MIRT819838	hsa-miR-3941	CLIP-seq
MIRT819839	hsa-miR-4254	CLIP-seq
MIRT819840	hsa-miR-4261	CLIP-seq
MIRT819841	hsa-miR-4262	CLIP-seq
MIRT819842	hsa-miR-4306	CLIP-seq
MIRT819843	hsa-miR-4434	CLIP-seq
MIRT819844	hsa-miR-4444	CLIP-seq
MIRT819845	hsa-miR-4476	CLIP-seq
MIRT819846	hsa-miR-4496	CLIP-seq
MIRT819847	hsa-miR-4516	CLIP-seq
MIRT819848	hsa-miR-4533	CLIP-seq
MIRT819849	hsa-miR-455-3p	CLIP-seq
MIRT819850	hsa-miR-4644	CLIP-seq
MIRT819851	hsa-miR-4649-3p	CLIP-seq
MIRT819852	hsa-miR-4653-5p	CLIP-seq
MIRT819853	hsa-miR-466	CLIP-seq
MIRT819854	hsa-miR-4668-3p	CLIP-seq
MIRT819855	hsa-miR-4672	CLIP-seq
MIRT819856	hsa-miR-4676-5p	CLIP-seq
MIRT819857	hsa-miR-4689	CLIP-seq
MIRT819858	hsa-miR-4714-5p	CLIP-seq
MIRT819859	hsa-miR-4733-3p	CLIP-seq
MIRT819860	hsa-miR-4781-5p	CLIP-seq
MIRT819861	hsa-miR-4784	CLIP-seq
MIRT819862	hsa-miR-4786-3p	CLIP-seq
MIRT819863	hsa-miR-4797-5p	CLIP-seq
MIRT819864	hsa-miR-4802-5p	CLIP-seq
MIRT819865	hsa-miR-513c	CLIP-seq
MIRT819866	hsa-miR-514b-5p	CLIP-seq
MIRT819867	hsa-miR-516a-5p	CLIP-seq
MIRT819868	hsa-miR-548p	CLIP-seq
MIRT819869	hsa-miR-548v	CLIP-seq
MIRT819870	hsa-miR-570	CLIP-seq
MIRT819871	hsa-miR-575	CLIP-seq
MIRT819872	hsa-miR-605	CLIP-seq
MIRT819873	hsa-miR-659	CLIP-seq
MIRT819874	hsa-miR-767-3p	CLIP-seq
MIRT819808	hsa-miR-1226	CLIP-seq
MIRT1942180	hsa-miR-1246	CLIP-seq
MIRT1942181	hsa-miR-1266	CLIP-seq
MIRT1942182	hsa-miR-1284	CLIP-seq
MIRT1942183	hsa-miR-129-5p	CLIP-seq
MIRT819811	hsa-miR-140-5p	CLIP-seq
MIRT1942184	hsa-miR-200b	CLIP-seq
MIRT1942185	hsa-miR-200c	CLIP-seq
MIRT1942186	hsa-miR-2113	CLIP-seq
MIRT1942187	hsa-miR-218	CLIP-seq
MIRT819817	hsa-miR-2467-3p	CLIP-seq
MIRT819818	hsa-miR-30a	CLIP-seq
MIRT819819	hsa-miR-30b	CLIP-seq
MIRT819820	hsa-miR-30c	CLIP-seq
MIRT819821	hsa-miR-30d	CLIP-seq
MIRT819822	hsa-miR-30e	CLIP-seq
MIRT1942188	hsa-miR-3134	CLIP-seq
MIRT1942189	hsa-miR-3140-3p	CLIP-seq
MIRT1942190	hsa-miR-3153	CLIP-seq
MIRT819825	hsa-miR-3194-3p	CLIP-seq
MIRT819826	hsa-miR-330-3p	CLIP-seq
MIRT1942191	hsa-miR-3661	CLIP-seq
MIRT1942192	hsa-miR-3664-3p	CLIP-seq
MIRT819829	hsa-miR-3664-5p	CLIP-seq
MIRT1942193	hsa-miR-374c	CLIP-seq
MIRT819835	hsa-miR-3919	CLIP-seq
MIRT819836	hsa-miR-3921	CLIP-seq
MIRT819837	hsa-miR-3925-5p	CLIP-seq
MIRT1942194	hsa-miR-429	CLIP-seq
MIRT1942195	hsa-miR-4311	CLIP-seq
MIRT1942196	hsa-miR-4418	CLIP-seq
MIRT1942197	hsa-miR-4426	CLIP-seq
MIRT1942198	hsa-miR-4436a	CLIP-seq
MIRT1942199	hsa-miR-4518	CLIP-seq
MIRT819849	hsa-miR-455-3p	CLIP-seq
MIRT1942200	hsa-miR-4643	CLIP-seq
MIRT1942201	hsa-miR-4647	CLIP-seq
MIRT819851	hsa-miR-4649-3p	CLIP-seq
MIRT819852	hsa-miR-4653-5p	CLIP-seq
MIRT1942202	hsa-miR-4660	CLIP-seq
MIRT1942203	hsa-miR-4662b	CLIP-seq
MIRT819855	hsa-miR-4672	CLIP-seq
MIRT1942204	hsa-miR-4699-5p	CLIP-seq
MIRT819858	hsa-miR-4714-5p	CLIP-seq
MIRT819859	hsa-miR-4733-3p	CLIP-seq
MIRT1942205	hsa-miR-4789-5p	CLIP-seq
MIRT819863	hsa-miR-4797-5p	CLIP-seq
MIRT819864	hsa-miR-4802-5p	CLIP-seq
MIRT1942206	hsa-miR-492	CLIP-seq
MIRT1942207	hsa-miR-509-3-5p	CLIP-seq
MIRT1942208	hsa-miR-509-5p	CLIP-seq
MIRT1942209	hsa-miR-548u	CLIP-seq
MIRT819872	hsa-miR-605	CLIP-seq
MIRT1942210	hsa-miR-619	CLIP-seq
MIRT1942211	hsa-miR-631	CLIP-seq
MIRT1942212	hsa-miR-636	CLIP-seq
MIRT1942213	hsa-miR-646	CLIP-seq
MIRT1942214	hsa-miR-655	CLIP-seq
MIRT819873	hsa-miR-659	CLIP-seq
MIRT819874	hsa-miR-767-3p	CLIP-seq
MIRT2181032	hsa-miR-1207-5p	CLIP-seq
MIRT819808	hsa-miR-1226	CLIP-seq
MIRT2181033	hsa-miR-1272	CLIP-seq
MIRT2181034	hsa-miR-1322	CLIP-seq
MIRT819810	hsa-miR-1343	CLIP-seq
MIRT819812	hsa-miR-181a	CLIP-seq
MIRT819813	hsa-miR-181b	CLIP-seq
MIRT819814	hsa-miR-181c	CLIP-seq
MIRT819815	hsa-miR-181d	CLIP-seq
MIRT1942184	hsa-miR-200b	CLIP-seq
MIRT1942185	hsa-miR-200c	CLIP-seq
MIRT819817	hsa-miR-2467-3p	CLIP-seq
MIRT819818	hsa-miR-30a	CLIP-seq
MIRT819819	hsa-miR-30b	CLIP-seq
MIRT819820	hsa-miR-30c	CLIP-seq
MIRT819821	hsa-miR-30d	CLIP-seq
MIRT819822	hsa-miR-30e	CLIP-seq
MIRT819824	hsa-miR-3192	CLIP-seq
MIRT819825	hsa-miR-3194-3p	CLIP-seq
MIRT2181035	hsa-miR-3202	CLIP-seq
MIRT819829	hsa-miR-3664-5p	CLIP-seq
MIRT819831	hsa-miR-3689d	CLIP-seq
MIRT819835	hsa-miR-3919	CLIP-seq
MIRT819836	hsa-miR-3921	CLIP-seq
MIRT819837	hsa-miR-3925-5p	CLIP-seq
MIRT819838	hsa-miR-3941	CLIP-seq
MIRT819841	hsa-miR-4262	CLIP-seq
MIRT1942194	hsa-miR-429	CLIP-seq
MIRT819843	hsa-miR-4434	CLIP-seq
MIRT819847	hsa-miR-4516	CLIP-seq
MIRT1942200	hsa-miR-4643	CLIP-seq
MIRT819851	hsa-miR-4649-3p	CLIP-seq
MIRT819852	hsa-miR-4653-5p	CLIP-seq
MIRT819853	hsa-miR-466	CLIP-seq
MIRT819855	hsa-miR-4672	CLIP-seq
MIRT819858	hsa-miR-4714-5p	CLIP-seq
MIRT819859	hsa-miR-4733-3p	CLIP-seq
MIRT2181036	hsa-miR-4747-5p	CLIP-seq
MIRT2181037	hsa-miR-4761-5p	CLIP-seq
MIRT2181038	hsa-miR-4763-3p	CLIP-seq
MIRT819860	hsa-miR-4781-5p	CLIP-seq
MIRT819862	hsa-miR-4786-3p	CLIP-seq
MIRT819863	hsa-miR-4797-5p	CLIP-seq
MIRT819864	hsa-miR-4802-5p	CLIP-seq
MIRT819865	hsa-miR-513c	CLIP-seq
MIRT819866	hsa-miR-514b-5p	CLIP-seq
MIRT2181039	hsa-miR-541	CLIP-seq
MIRT819869	hsa-miR-548v	CLIP-seq
MIRT819870	hsa-miR-570	CLIP-seq
MIRT2181040	hsa-miR-624	CLIP-seq
MIRT2181041	hsa-miR-654-5p	CLIP-seq
MIRT819874	hsa-miR-767-3p	CLIP-seq
MIRT819811	hsa-miR-140-5p	CLIP-seq
MIRT1942184	hsa-miR-200b	CLIP-seq
MIRT1942185	hsa-miR-200c	CLIP-seq
MIRT819825	hsa-miR-3194-3p	CLIP-seq
MIRT819829	hsa-miR-3664-5p	CLIP-seq
MIRT819831	hsa-miR-3689d	CLIP-seq
MIRT819836	hsa-miR-3921	CLIP-seq
MIRT819838	hsa-miR-3941	CLIP-seq
MIRT1942194	hsa-miR-429	CLIP-seq
MIRT819851	hsa-miR-4649-3p	CLIP-seq
MIRT819852	hsa-miR-4653-5p	CLIP-seq
MIRT819853	hsa-miR-466	CLIP-seq
MIRT819855	hsa-miR-4672	CLIP-seq
MIRT819858	hsa-miR-4714-5p	CLIP-seq
MIRT819864	hsa-miR-4802-5p	CLIP-seq
MIRT819874	hsa-miR-767-3p	CLIP-seq
MIRT819810	hsa-miR-1343	CLIP-seq
MIRT2444764	hsa-miR-186	CLIP-seq
MIRT819824	hsa-miR-3192	CLIP-seq
MIRT819843	hsa-miR-4434	CLIP-seq
MIRT819847	hsa-miR-4516	CLIP-seq
MIRT2181032	hsa-miR-1207-5p	CLIP-seq
MIRT2484409	hsa-miR-188-3p	CLIP-seq
MIRT2484410	hsa-miR-3163	CLIP-seq
MIRT2484411	hsa-miR-3614-5p	CLIP-seq
MIRT2484412	hsa-miR-3691-3p	CLIP-seq
MIRT2484413	hsa-miR-4282	CLIP-seq
MIRT2484414	hsa-miR-4428	CLIP-seq
MIRT2484415	hsa-miR-4716-3p	CLIP-seq
MIRT2181036	hsa-miR-4747-5p	CLIP-seq
MIRT2181037	hsa-miR-4761-5p	CLIP-seq
MIRT2181038	hsa-miR-4763-3p	CLIP-seq
MIRT2484416	hsa-miR-4773	CLIP-seq
MIRT2484417	hsa-miR-4775	CLIP-seq
MIRT2181039	hsa-miR-541	CLIP-seq
MIRT819870	hsa-miR-570	CLIP-seq
MIRT2484418	hsa-miR-590-3p	CLIP-seq
MIRT2181040	hsa-miR-624	CLIP-seq
MIRT2181041	hsa-miR-654-5p	CLIP-seq
MIRT2181032	hsa-miR-1207-5p	CLIP-seq
MIRT2484409	hsa-miR-188-3p	CLIP-seq
MIRT2484410	hsa-miR-3163	CLIP-seq
MIRT2484411	hsa-miR-3614-5p	CLIP-seq
MIRT2484413	hsa-miR-4282	CLIP-seq
MIRT2484414	hsa-miR-4428	CLIP-seq
MIRT2181037	hsa-miR-4761-5p	CLIP-seq
MIRT2181038	hsa-miR-4763-3p	CLIP-seq
MIRT2484416	hsa-miR-4773	CLIP-seq
MIRT2181039	hsa-miR-541	CLIP-seq
MIRT819870	hsa-miR-570	CLIP-seq
MIRT2181040	hsa-miR-624	CLIP-seq
MIRT2181041	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005515	Function	Protein binding	IPI	11955446, 16630820, 17052462, 17113272, 18498752, 21399610, 24981860
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	23386608
GO:0005801	Component	Cis-Golgi network	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0014908	Process	Myotube differentiation involved in skeletal muscle regeneration	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IMP	19328798
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:1990907	Component	Beta-catenin-TCF complex	IBA
GO:1990907	Component	Beta-catenin-TCF complex	IDA	28296634
GO:1990907	Component	Beta-catenin-TCF complex	IPI	11955446

Other IDs

• MIM: 602597
• HGNC: 1008
• e!Ensembl: ENSG00000116128

Protein

• UniProt ID: O00512
• Protein name: B-cell CLL/lymphoma 9 protein (B-cell lymphoma 9 protein) (Bcl-9) (Protein legless homolog)
• Protein function: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity).
• PDB: 2GL7, 2VP7, 2VPB, 2VPD, 2VPE, 2VPG, 3SL9, 8Y0P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11502	BCL9	350 → 388	B-cell lymphoma 9 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood.
• Sequence:

  MHSSNPKVRSSPSGNTQSSPKSKQEVMVRPPTVMSPSGNPQLDSKFSNQGKQGGSASQSQ
  PSPCDSKSGGHTPKALPGPGGSMGLKNGAGNGAKGKGKRERSISADSFDQRDPGTPNDDS
  DIKECNSADHIKSQDSQHTPHSMTPSNATAPRSSTPSHGQTTATEPTPAQKTPAKVVYVF
  STEMANKAAEAVLKGQVETIVSFHIQNISNNKTERSTAPLNTQISALRNDPKPLPQQPPA
  PANQDQNSSQNTRLQPTPPIPAPAPKPAAPPRPLDRESPGVENKLIPSVGSPASSTPLPP
  DGTGPNSTPNNRAVTPVSQGSNSSSADPKAPPPPPVSSGEPPTLGENPDGLSQEQLEHRE
  RSLQTLRDIQRMLFPDEKEFTGAQSGGPQQNPGVLDGPQKKPEGPIQAMMAQSQSLGKGP
  GPRTDVGAPFGPQGHRDVPFSPDEMVPPSMNSQSGTIGPDHLDHMTPEQIAWLKLQQEFY
  EEKRRKQEQVVVQQCSLQDMMVHQHGPRGVVRGPPPPYQMTPSEGWAPGGTEPFSDGINM
  PHSLPPRGMAPHPNMPGSQMRLPGFAGMINSEMEGPNVPNPASRPGLSGVSWPDDVPKIP
  DGRNFPPGQGIFSGPGRGERFPNPQGLSEEMFQQQLAEKQLGLPPGMAMEGIRPSMEMNR
  MIPGSQRHMEPGNNPIFPRIPVEGPLSPSRGDFPKGIPPQMGPGRELEFGMVPSGMKGDV
  NLNVNMGSNSQMIPQKMREAGAGPEEMLKLRPGGSDMLPAQQKMVPLPFGEHPQQEYGMG
  PRPFLPMSQGPGSNSGLRNLREPIGPDQRTNSRLSHMPPLPLNPSSNPTSLNTAPPVQRG
  LGRKPLDISVAGSQVHSPGINPLKSPTMHQVQSPMLGSPSGNLKSPQTPSQLAGMLAGPA
  AAASIKSPPVLGSAAASPVHLKSPSLPAPSPGWTSSPKPPLQSPGIPPNHKAPLTMASPA
  MLGNVESGGPPPPTASQPASVNIPGSLPSSTPYTMPPEPTLSQNPLSIMMSRMSKFAMPS
  STPLYHDAIKTVASSDDDSPPARSPNLPSMNNMPGMGINTQNPRISGPNPVVPMPTLSPM
  GMTQPLSHSNQMPSPNAVGPNIPPHGVPMGPGLMSHNPIMGHGSQEPPMVPQGRMGFPQG
  FPPVQSPPQQVPFPHNGPSGGQGSFPGGMGFPGEGPLGRPSNLPQSSADAALCKPGGPGG
  PDSFTVLGNSMPSVFTDPDLQEVIRPGATGIPEFDLSRIIPSEKPSQTLQYFPRGEVPGR
  KQPQGPGPGFSHMQGMMGEQAPRMGLALPGMGGPGPVGTPDIPLGTAPSMPGHNPMRPPA
  FLQQGMMGPHHRMMSPAQSTMPGQPTLMSNPAAAVGMIPGKDRGPAGLYTHPGPVGSPGM
  MMSMQGMMGPQQNIMIPPQMRPRGMAADVGMGGFSQGPGNPGNMMF

• Sequence length: 1426

Pathways

Reactome:

Formation of the beta-catenin:TCF transactivating complex
Deactivation of the beta-catenin transactivating complex

Associated diseases

Evidence Score:

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BCL9-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ 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	27507882		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	25275049		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29428231		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27507882		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29428231		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31440992		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	29428231		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22914623, 26384318, 29271667, 30839226, 31081087, 31086813, 31088961, 31827404		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	37894929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	26384318		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31073027, 34452548, 36835467	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	23473611		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31440992, 35078970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30009824		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40362354	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30839226, 31827404		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26384318		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27507882		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31616187		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26005854, 27507882		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19738061, 21703997, 26384318		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19738061	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21703997		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18627596, 24419084, 26844272, 27121066, 30760710, 31081087		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27121066, 31081087	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	26522117		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31616187		★☆☆☆☆ Found in Text Mining only
CORNELIA DE LANGE SYNDROME 4	Cornelia De Lange Syndrome	BEFREE	26522117		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23864140		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25760438		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11844713		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31827404		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22318994	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31073027	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27121066	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	24419084		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29785705		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	26522117, 29785705, 8530105		★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	29785705		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23505090, 28074862, 28817119, 31440992, 31561723		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30009824	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	26384318		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30009824		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	22024689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30839226, 31827404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28769030, 30013632		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11426565, 19738061, 24599134, 26005854, 26384318, 30009824, 30760720, 31341586, 31440992, 31827404, 9490669		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21703997		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21383261		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19738061, 26081897, 26384318		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19738061	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19738061, 22914623, 26005854, 29428231, 30760710		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30009824		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26384318		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	19373426		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30172867		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	22024689		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30839226, 31827404		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22024689	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11426565		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27507882		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	21383261, 23382809, 26494551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21383261, 23382809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	23382809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	26494551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28769030, 30013632		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26494551	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	21383261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	26005854		★☆☆☆☆ Found in Text Mining only