2. Gene
  3. TCF4 - transcription factor 4 Gene

TCF4 - transcription factor 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as E2-2; ITF2; PTHS; SEF2; CDG2T; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19

Gene ID: 6925 | Gene type: protein coding

About TCF4

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:55,222,185-55,635,957 (from NCBI)

This gene has 93 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in brain (RPKM 17.0), fat (RPKM 14.9) and 24 other tissues.

Summary

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]

TCF4 Products(46)

mRNA Protein Name
NM_001083962.2 NP_001077431.1 transcription factor 4 isoform a
NM_001243226.3 NP_001230155.2 transcription factor 4 isoform c
NM_001243227.2 NP_001230156.1 transcription factor 4 isoform d
NM_001243228.2 NP_001230157.1 transcription factor 4 isoform e
NM_001243230.2 NP_001230159.1 transcription factor 4 isoform f
NM_001243231.2 NP_001230160.1 transcription factor 4 isoform g
NM_001243232.1 NP_001230161.1 transcription factor 4 isoform h
NM_001243233.2 NP_001230162.1 transcription factor 4 isoform i
NM_001243234.2 NP_001230163.1 transcription factor 4 isoform j
NM_001243235.2 NP_001230164.1 transcription factor 4 isoform k
NM_001243236.2 NP_001230165.1 transcription factor 4 isoform l
NM_001306207.1 NP_001293136.1 transcription factor 4 isoform m
NM_001306208.1 NP_001293137.1 transcription factor 4 isoform n
NM_001330604.3 NP_001317533.1 transcription factor 4 isoform o
NM_001330605.3 NP_001317534.1 transcription factor 4 isoform p
NM_001348211.2 NP_001335140.1 transcription factor 4 isoform q
NM_001348212.2 NP_001335141.1 transcription factor 4 isoform i
NM_001348213.2 NP_001335142.1 transcription factor 4 isoform p
NM_001348214.2 NP_001335143.1 transcription factor 4 isoform r
NM_001348215.2 NP_001335144.1 transcription factor 4 isoform s
NM_001348216.2 NP_001335145.1 transcription factor 4 isoform t
NM_001348217.1 NP_001335146.1 transcription factor 4 isoform d
NM_001348218.2 NP_001335147.1 transcription factor 4 isoform d
NM_001348219.2 NP_001335148.1 transcription factor 4 isoform m
NM_001348220.1 NP_001335149.1 transcription factor 4 isoform u
NM_001369567.1 NP_001356496.1 transcription factor 4 isoform a
NM_001369568.1 NP_001356497.1 transcription factor 4 isoform a
NM_001369569.1 NP_001356498.1 transcription factor 4 isoform v
NM_001369570.1 NP_001356499.1 transcription factor 4 isoform v
NM_001369571.1 NP_001356500.1 transcription factor 4 isoform b
NM_001369572.1 NP_001356501.1 transcription factor 4 isoform b
NM_001369573.1 NP_001356502.1 transcription factor 4 isoform x
NM_001369574.1 NP_001356503.1 transcription factor 4 isoform 27
NM_001369575.1 NP_001356504.1 transcription factor 4 isoform d
NM_001369576.1 NP_001356505.1 transcription factor 4 isoform y
NM_001369577.1 NP_001356506.1 transcription factor 4 isoform 28
NM_001369578.1 NP_001356507.1 transcription factor 4 isoform y
NM_001369579.1 NP_001356508.1 transcription factor 4 isoform 28
NM_001369580.1 NP_001356509.1 transcription factor 4 isoform 28
NM_001369581.1 NP_001356510.1 transcription factor 4 isoform y
NM_001369582.1 NP_001356511.1 transcription factor 4 isoform m
NM_001369583.1 NP_001356512.1 transcription factor 4 isoform m
NM_001369584.1 NP_001356513.1 transcription factor 4 isoform u
NM_001369585.1 NP_001356514.1 transcription factor 4 isoform u
NM_001369586.1 NP_001356515.1 transcription factor 4 isoform z
NM_003199.3 NP_003190.1 transcription factor 4 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
1681116 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
2105528 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12651860 GOA
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
29739711 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
10903890 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9824680 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
2105528 GOA
Cellular Component GO Annotation Evidence Reference Source
part of beta-catenin-TCF7L2 complex IDA
IDA: Inferred from direct assay
12651860 GOA
located in chromatin IDA
IDA: Inferred from direct assay
21880741 GOA
located in nucleus IDA
IDA: Inferred from direct assay
1681116 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TCF4 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (565 - 618)

  • 0
  • 200
  • 400
  • 600
  • 667 a.a.
Protein Preferred Names Protein Names

transcription factor 4

SL3-3 enhancer factor 2

Related Diseases

Diseases Alias
Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction
Corneal Dystrophy, Fuchs Endothelial, 3

FECD3

Fcd2 Locus

Corneal Dystrophy, Fuchs Endothelial, Late-Onset

Fuchs Endothelial Corneal Dystrophy, Late-Onset

Dystrophy, Corneal, Fuchs Endothelial, Type 3
Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1
Epicanthus
Motor Stereotypies

Motor Stereotypy
Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Autosomal Dominant Non-Syndromic Intellectual Disability
Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]
Corneal Dystrophy
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
Intratubular Embryonal Carcinoma

Stage 0 Testicular Embryonal Carcinoma
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Thyroid Gland Mucoepidermoid Carcinoma

Mucoepidermoid Thyroid Carcinoma
Subacute Delirium

Delirium

Acute Confusional State Nos
Exudative Vitreoretinopathy 7

EVR7

Vitreoretinopathy, Exudative 7

Vitreoretinopathy Exudative, Type 7
Uterine Corpus Endometrial Carcinoma
Diencephalic Astrocytoma

Astrocytoma Of Diencephalon
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Constipation
Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2

PPCD2

Corneal Dystrophy, Posterior Polymorphous 2

Corneal Dystrophy Polymorphous Posterior, 2

Dystrophy, Corneal, Posterior Polymorphous, Type 2
Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour
Epididymis Adenocarcinoma

Adenocarcinoma Of The Epididymis
Epididymis Cancer

Malignant Tumor Of Epididymis

Malignant Epididymal Tumor

Malignant Neoplasm Of Epididymis

Neoplasm Of Epididymis
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Approval
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B1360 Chlorquinaldol 99.47% Unkown
Pre-clinical Phase
Bioactive Molecules (10)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-101486 LF3 Antagonist 99.55% Unkown
HY-100760 Toxoflavin Inhibitor 99.92% Unkown
HY-P10392B aStAx-35R TFA 98.43% Unkown
HY-100760S Toxoflavin-13C4 Inhibitor / Unkown
HY-124826 BC21 Inhibitor / Unkown
HY-149858 β-catenin-IN-7 Inhibitor / Unkown
HY-157126 Pterostilbene-isothiocyanate Inhibitor / Unkown
HY-P10392 aStAx-35R / Unkown
HY-RS14307 TCF4 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-119966 CCT036477 Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris TCF4 VGNC VGNC:47197
Bos taurus TCF4 VGNC VGNC:35694
Macaca mulatta TCF4 VGNC VGNC:78288
Rattus norvegicus TCF4 RGD RGD:69271
Felis catus TCF4 VGNC VGNC:66027
Mus musculus TCF4 MGD MGI:98506
Others TCF4 NCBI