Reactome | TCF7L2 K485fs*25 [nucleoplasm]

TCF7L2 K485fs*25 [nucleoplasm]

Stable Identifier

R-HSA-5334040

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

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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):TCF4 TCF7L2

COSMIC (genes):TCF7L2 TCF7L2

CTD Gene:6934 TCF7L2

dbSNP Gene:6934 TCF7L2

ENSEMBL:ENSG00000148737 TCF7L2

HGNC:11641 TCF7L2

KEGG:hsa:6934 TCF7L2

Monarch:6934 TCF7L2

NCBI Gene:6934 TCF7L2

OMIM:602228 TCF7L2

UCSC:Q9NQB0 TCF7L2

Reference Transcript

Participates

as a member of

TCF7L2 mutants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

TCF7L2 [nucleoplasm]

pT201,T212-TCF7L2 [nucleoplasm]

TCF7L2 R397W [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_016872082.1, NP_001139758.1, NP_001185457.1, NP_001350430.1, NP_001185455.1, NP_001139746.1, NP_001139755.1, NP_001185460.1, NP_001139756.1, XP_005270146.1, XP_016872081.1, XP_005270160.1, XP_005270153.1, NP_110383.2, NP_001354872.1, XP_005270141.1

OpenTargets

ENSG00000148737

ENSEMBL

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

HPA

ENSG00000148737-TCF7L2

GeneCards

TCF7L2

PRO

Q9NQB0

Pharos - Targets

Q9NQB0

Orphanet

TCF7L2

PDB

1JDH, 2GL7, 1JPW

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) CTNNB1 [nucleoplasm] (R-HSA-3451168) CTNNB1 [cytosol] (R-HSA-448839) CTNNB1(1-115) [cytosol] (R-HSA-202930) CTNNB1(116-376) [cytosol] (R-HSA-202950) p-S33,S37,T41,S45 CTNNB1 [cytosol] (R-HSA-8942374) p-S37,T41,S45, CTNNB1 [cytosol] (R-HSA-8942369) p-T41,S45 CTNNB1 [cytosol] (R-HSA-8942367) p-S45 CTNNB1 [cytosol] (R-HSA-8942363) CTNNB1 [plasma membrane] (R-HSA-9038440) p-Y-CTNNB1 [cytosol] (R-HSA-8876940) p-S552-CTNNB1 [cytosol] (R-HSA-3134933) p-S552-CTNNB1 [nucleoplasm] (R-HSA-3134926)	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	PARP1 [nucleoplasm] (R-HSA-201568) PAR-PARP1 [nucleoplasm] (R-HSA-5651713) monoSUMO1-K203,K486-PARP1 [nucleoplasm] (R-HSA-4551686) polySUMO2,3-K203,K486-PARP1 [nucleoplasm] (R-HSA-4551617)	0.597	6
UniProt:Q9UER7 DAXX	13	DAXX [nucleoplasm] (R-HSA-3222068) DAXX A36Qfs108 [nucleoplasm] (R-HSA-9673105) DAXX K56 [nucleoplasm] (R-HSA-9673089) DAXX A103Sfs40 [nucleoplasm] (R-HSA-9673121) DAXX C106 [nucleoplasm] (R-HSA-9673079) DAXX E72Nfs72 [nucleoplasm] (R-HSA-9673110) DAXX E104 [nucleoplasm] (R-HSA-9673078) DAXX H26Tfs118 [nucleoplasm] (R-HSA-9673114) DAXX S138 [nucleoplasm] (R-HSA-9673081) DAXX C74* [nucleoplasm] (R-HSA-9673096) DAXX R48Vfs93 [nucleoplasm] (R-HSA-9673103) DAXX L98Vfs13 [nucleoplasm] (R-HSA-9673102) monoSUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086)	0.543	5

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