The TCF4 gene homepage

General information
Gene symbol	TCF4
Gene name	transcription factor 4
Chromosome	18
Chromosomal band	q21.1
Imprinted	Unknown
Genomic reference	NG_011716.1
Transcript reference	NM_001083962.1, NM_001243226.1, NM_001243227.1, NM_001243228.1, NM_001243230.1, NM_001243231.1, NM_001243232.1, NM_001243233.1, NM_001243234.1, NM_001243235.1, NM_001243236.1, NM_003199.2, XM_005266738.1, XM_005266739.1, XM_005266740.1, XM_005266741.1, XM_005266742.1, XM_005266743.1, XM_005266744.1, XM_005266745.1, XM_005266746.1, XM_005266747.1, XM_005266748.1, XM_005266749.1, XM_005266750.1, XM_005266751.1, XM_005266752.1, XM_005266753.1, XM_005266754.1, XM_005266755.1, XM_005266756.1, XM_005266757.1, XM_005266759.1
Associated with diseases	FECD-3, ID, PTHS
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	87
Unique public DNA variants reported	9
Individuals with public variants	35
Hidden variants	1256
Date created	October 30, 2013
Date last updated	September 28, 2016
Version	TCF4:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:11634
Entrez Gene	6925
PubMed articles	TCF4
OMIM - Gene	602272
OMIM - Diseases	FECD-3 (dystrophy, corneal, Fuchs endothelial, type 3 (FECD-3)) PTHS (Pitt-Hopkins syndrome (PTHS))
HGMD	TCF4
GeneCards	TCF4
GeneTests	TCF4

Active transcripts

Legend

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How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00020046	18	Manually created transcript.	NM_001243226.1	-	87
00007874	18	transcript variant 2	NM_003199.2	NP_003190.1	54
00007875	18	transcript variant 4	NM_001243227.1	NP_001230156.1	54
00007878	18	transcript variant 6	NM_001243230.1	NP_001230159.1	54
00020045	18	Manually created transcript. (removed from reference sequence)	NM_001083962.1	-	54
00020047	18	Manually created transcript.	NM_001243228.1	-	54
00020048	18	Manually created transcript. (removed from reference sequence)	NM_001243231.1	-	54
00007876	18	transcript variant 12	NM_001243236.1	NP_001230165.1	53
00007877	18	transcript variant 11	NM_001243235.1	NP_001230164.1	53
00007879	18	transcript variant 9	NM_001243233.1	NP_001230162.1	53
00020049	18	Manually created transcript.	NM_001243232.1	-	53
00020050	18	Manually created transcript.	NM_001243234.1	-	53
00039287	18	transcript variant X17	XM_005266754.1	XP_005266811.1	-
00039288	18	transcript variant X20	XM_005266757.1	XP_005266814.1	-
00039289	18	transcript variant X5	XM_005266742.1	XP_005266799.1	-
00039290	18	transcript variant X10	XM_005266747.1	XP_005266804.1	-
00039291	18	transcript variant X4	XM_005266741.1	XP_005266798.1	-
00039292	18	transcript variant X19	XM_005266756.1	XP_005266813.1	-
00039293	18	transcript variant X14	XM_005266751.1	XP_005266808.1	-
00039294	18	transcript variant X22	XM_005266759.1	XP_005266816.1	-
00039295	18	transcript variant X6	XM_005266743.1	XP_005266800.1	-
00039296	18	transcript variant X13	XM_005266750.1	XP_005266807.1	-
00039297	18	transcript variant X12	XM_005266749.1	XP_005266806.1	-
00039298	18	transcript variant X8	XM_005266745.1	XP_005266802.1	-
00039299	18	transcript variant X2	XM_005266739.1	XP_005266796.1	-
00039300	18	transcript variant X7	XM_005266744.1	XP_005266801.1	-
00039301	18	transcript variant X1	XM_005266738.1	XP_005266795.1	-
00039302	18	transcript variant X11	XM_005266748.1	XP_005266805.1	-
00039303	18	transcript variant X3	XM_005266740.1	XP_005266797.1	-
00039304	18	transcript variant X9	XM_005266746.1	XP_005266803.1	-
00039305	18	transcript variant X16	XM_005266753.1	XP_005266810.1	-
00039306	18	transcript variant X18	XM_005266755.1	XP_005266812.1	-
00039307	18	transcript variant X15	XM_005266752.1	XP_005266809.1	-

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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2025. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

MyGenome LOVD - This database is for training purposes only

TCF4 (transcription factor 4)