Reactome | TCF7L2 K485fs*25 [nucleoplasm]

TCF7L2 K485fs*25 [nucleoplasm]

Stable Identifier

R-HSA-5334040

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Icon

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
10919662	The human T-cell transcription factor-4 gene: structure, extensive characterization of alternative splicings, and mutational analysis in colorectal cancer cell lines Rolland, S, Duval, A, Thomas, G, Tubacher, E, Hamelin, R, Bui, H	Cancer Res.	2000
16547505	TCF-4 isoforms absent in TCF-4 mutated MSI-H colorectal cancer cells colocalize with nuclear CtBP and repress TCF-4-mediated transcription Duval, A, El-Bchiri, J, Cuilliere-Dartigues, P, Hamelin, R, Fontanges, P, Buhard, O, Fléjou, JF, Krimi, A	Oncogene	2006

External Reference Information

External Reference

UniProt:Q9NQB0 TCF7L2

Gene Names

TCF7L2, TCF4

Chain

chain:1-619

Reference Genes

BioGPS Gene:6934 TCF7L2

COSMIC (genes):TCF7L2 TCF7L2

CTD Gene:6934 TCF7L2

dbSNP Gene:6934 TCF7L2

ENSEMBL:ENSG00000148737 TCF7L2

ENSEMBL:ENSG00000148737.18 TCF7L2

HGNC:11641 TCF7L2

KEGG Gene (Homo sapiens):6934 TCF7L2

Monarch:6934 TCF7L2

NCBI Gene:6934 TCF7L2

OMIM:602228 TCF7L2

UCSC:Q9NQB0 TCF7L2

Reference Transcript

Other Identifiers

11746313_a_at

11746314_s_at

11746315_x_at

11746404_a_at

11747829_x_at

11751102_x_at

11755181_a_at

16709333

212759_PM_s_at

212759_s_at

212761_PM_at

212761_at

212762_PM_s_at

212762_s_at

216035_PM_x_at

216035_x_at

216037_PM_x_at

216037_x_at

216511_PM_s_at

216511_s_at

32025_at

3264622

3264623

3264624

3264626

3264627

3264633

3264652

3264659

3264685

3264689

3264692

3264696

3264697

3264698

3264699

3264708

3264710

3264712

3264714

3264722

3264723

3264724

3264725

3264726

48528_at

6934

7930537

A_14_P125103

A_14_P133398

A_23_P127013

A_23_P389588

A_24_P921823

A_33_P3377304

GE83165

GO:0000122

GO:0000785

GO:0000976

GO:0000978

GO:0000981

GO:0001568

GO:0003676

GO:0003677

GO:0003700

GO:0005515

GO:0005634

GO:0005654

GO:0005694

GO:0005975

GO:0006351

GO:0006355

GO:0006357

GO:0008013

GO:0009749

GO:0010909

GO:0012501

GO:0016055

GO:0016605

GO:0016922

GO:0019901

GO:0023052

GO:0030154

GO:0031016

GO:0032024

GO:0032092

GO:0032350

GO:0032993

GO:0042593

GO:0043226

GO:0043433

GO:0043565

GO:0043570

GO:0044334

GO:0045295

GO:0045444

GO:0045721

GO:0045892

GO:0045944

GO:0048625

GO:0048660

GO:0048856

GO:0050679

GO:0051897

GO:0060070

GO:0060090

GO:0061629

GO:0070016

GO:0070369

GO:0071664

GO:0090090

GO:0140110

GO:1900182

GO:1901135

GO:1990841

GO:1990907

GO:2000675

GO:2001237

HMNXSV003004532

HMNXSV003007299

HMNXSV003057192

Hs.173638.0.S1_3p_s_at

Hs.173638.0.S2_3p_s_at

Hs.173638.0.S3_3p_a_at

Hs.173638.0.S3_3p_at

Hs.173638.1.S1_3p_x_at

Hs.173638.2.S1_3p_a_at

Hs.173638.2.S1_3p_x_at

Hs.283857.0.S1_3p_s_at

ILMN_1672486

TC10000820.hg

TC10002300.hg

Y11306_rna1_at

Participates

as a member of

TCF7L2 mutants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

TCF7L2 R397W [nucleoplasm]

pT201,T212-TCF7L2 [nucleoplasm]

TCF7L2 [nucleoplasm]

Modified Residues

Name

Replacement of residues 485 to 506 by SAFATYKVKAAASAHPLQMEAY

Disease

Name	Identifier	Synonyms
colorectal cancer	DOID:9256
stomach cancer	DOID:10534	malignant neoplasm of greater curvature of stomach, unspecified, malignant neoplasm of lesser curvature of stomach, NOS, malignant tumor of body of stomach (disorder), neoplasm of stomach (disorder), Ca lesser curvature - stomach (disorder), malignant neoplasm of greater curve of stomach unspecified (disorder), Ca body - stomach, ca lesser curvature of stomach, ca greater curvature of stomach, malignant neoplasm of lesser curvature of stomach, unspecified, malignant tumor of lesser curve of stomach (disorder), malignant neoplasm of body of stomach, gastric neoplasm, malignant neoplasm of greater curvature of stomach, NOS, Ca body - stomach (disorder), stomach neoplasm, Ca greater curvature - stomach (disorder), malignant neoplasm of lesser curve of stomach unspecified (disorder), malignant tumor of greater curve of stomach (disorder)

Cross References

RefSeq

XP_016872081.1, NP_001139758.1, XP_005270153.1, XP_016872082.1, NP_001139756.1, XP_005270146.1, NP_001185457.1, XP_005270141.1, XP_005270160.1, NP_001139746.1, NP_001185455.1, NP_001139755.1, NP_001185460.1

OpenTargets

ENSG00000148737

GeneCards

Q9NQB0

HPA

ENSG00000148737-TCF7L2

Ensembl

ENST00000355995, ENSP00000344823, ENST00000355717, ENSP00000347949, ENST00000369397, ENST00000538897, ENSP00000446172, ENSP00000348274, ENST00000627217, ENSG00000148737, ENST00000352065, ENSP00000358404, ENSP00000486891

PRO

Q9NQB0

Pharos - Targets

Q9NQB0

Orphanet

24970

PDB

1JDH, 1JPW, 2GL7

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P35222 CTNNB1	20	CTNNB1 S45A [cytosol] (R-HSA-9663982) CTNNB1 S45F [cytosol] (R-HSA-4791268) CTNNB1 S45C [cytosol] (R-HSA-9663983) CTNNB1 S45Y [cytosol] (R-HSA-9663975) CTNNB1 S45N [cytosol] (R-HSA-9663984) CTNNB1 S45P [cytosol] (R-HSA-4791272) pT41,S45-CTNNB1 S37P [cytosol] (R-HSA-9663981) pT41,S45-CTNNB1 S37F [cytosol] (R-HSA-4839621) pT41,S45-CTNNB1 S37A [cytosol] (R-HSA-4839619) pT41,S45-CTNNB1 S37Y [cytosol] (R-HSA-9663978) pT41,S45-CTNNB1 S37C [cytosol] (R-HSA-4839617) pS37,T41,S45-CTNNB1 S33A [cytosol] (R-HSA-9663976) pS37,T41,S45-CTNNB1 S33T [cytosol] (R-HSA-9663977) pS37,T41,S45-CTNNB1 S33C [cytosol] (R-HSA-4839630) pS37,T41,S45-CTNNB1 S33F [cytosol] (R-HSA-4839628) pS37,T41,S45-CTNNB1 S33P [cytosol] (R-HSA-4839626) pS37,T41,S45-CTNNB1 S33Y [cytosol] (R-HSA-4839625) pS45-CTNNB1 T41N [cytosol] (R-HSA-9663980) pS45-CTNNB1 T41A [cytosol] (R-HSA-4836868) pS45-CTNNB1 T41I [cytosol] (R-HSA-4839612)	0.97	27
UniProt:Q13761 RUNX3	7	RUNX3 [nucleoplasm] (R-HSA-8865393) RUNX3 [cytosol] (R-HSA-8937797) Ac-K94,K171-RUNX3 [nucleoplasm] (R-HSA-8951965) PolyUb-K94,K148-RUNX3 [cytosol] (R-HSA-8952400) PolyUb-K94,K148-RUNX3 [nucleoplasm] (R-HSA-8952387) p-Y-RUNX3 [cytosol] (R-HSA-8937805) PolyUb-RUNX3 [nucleoplasm] (R-HSA-8952417)	0.656	14
UniProt:Q08050 FOXM1	3	p-T611,S730,S739-FOXM1 [nucleoplasm] (R-HSA-4088133) p-T611-FOXM1 [nucleoplasm] (R-HSA-4088026) FOXM1 [nucleoplasm] (R-HSA-4088019)	0.612	7
UniProt:Q14526 HIC1	2	monoSUMO1-K333-HIC1 [nucleoplasm] (R-HSA-4090368) HIC1 [nucleoplasm] (R-HSA-4090364)	0.61	6
UniProt:P09874 PARP1	4	polySUMO2,3-K203,K486-PARP1 [nucleoplasm] (R-HSA-4551617) monoSUMO1-K203,K486-PARP1 [nucleoplasm] (R-HSA-4551686) PAR-PARP1 [nucleoplasm] (R-HSA-5651713) PARP1 [nucleoplasm] (R-HSA-201568)	0.597	6
UniProt:Q9UER7 DAXX	13	monoSUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086) DAXX L98Vfs13 [nucleoplasm] (R-HSA-9673102) DAXX R48Vfs93 [nucleoplasm] (R-HSA-9673103) DAXX C74* [nucleoplasm] (R-HSA-9673096) DAXX S138* [nucleoplasm] (R-HSA-9673081) DAXX H26Tfs118 [nucleoplasm] (R-HSA-9673114) DAXX E104 [nucleoplasm] (R-HSA-9673078) DAXX E72Nfs72 [nucleoplasm] (R-HSA-9673110) DAXX C106 [nucleoplasm] (R-HSA-9673079) DAXX A103Sfs40 [nucleoplasm] (R-HSA-9673121) DAXX K56 [nucleoplasm] (R-HSA-9673089) DAXX A36Qfs*108 [nucleoplasm] (R-HSA-9673105) DAXX [nucleoplasm] (R-HSA-3222068)	0.543	5