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Aliases for TCF4 Gene

Aliases for TCF4 Gene

  • Transcription Factor 4 2 3 3 5
  • Class B Basic Helix-Loop-Helix Protein 19 3 4
  • Immunoglobulin Transcription Factor 2 3 4
  • SL3-3 Enhancer Factor 2 3 4
  • BHLHb19 3 4
  • ITF-2 3 4
  • SEF-2 3 4
  • TCF-4 3 4
  • ITF2 3 4
  • SEF2 3 4
  • SEF2-1A 3
  • SEF2-1B 3
  • SEF2-1D 3
  • BHLHB19 4
  • SEF2-1 3
  • FECD3 3
  • E2-2 3
  • PTHS 3

External Ids for TCF4 Gene

Previous GeneCards Identifiers for TCF4 Gene

  • GC18M052983
  • GC18M052797
  • GC18M052679
  • GC18M051043
  • GC18M051045
  • GC18M052889
  • GC18M049599

Summaries for TCF4 Gene

Entrez Gene Summary for TCF4 Gene

  • 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]

GeneCards Summary for TCF4 Gene

TCF4 (Transcription Factor 4) is a Protein Coding gene. Diseases associated with TCF4 include Pitt-Hopkins Syndrome and Corneal Dystrophy, Fuchs Endothelial, 3. Among its related pathways are ERK Signaling and Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TCF12.

UniProtKB/Swiss-Prot for TCF4 Gene

  • Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5-CANNTG-3). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5-ACANNTGT-3 or 5-CCANNTGG-3.

Gene Wiki entry for TCF4 Gene

Additional gene information for TCF4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF4 Gene

Genomics for TCF4 Gene

GeneHancer (GH) Regulatory Elements for TCF4 Gene

Promoters and enhancers for TCF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J055398 Promoter/Enhancer 2.9 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 651.7 +261.4 261447 10.3 PKNOX1 ATF1 FEZF1 GLIS2 ZNF213 FOS ATF7 MAFF SMARCA4 GLIS1 TCF4 LINC01415 GC18P055423 GC18P055312
GH18J055584 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 661.7 +77.1 77095 5.8 PKNOX1 SIN3A ZNF2 IRF4 YY1 POLR2B ZNF766 ZNF213 ZNF143 KLF13 TCF4 GC18P055590 RPL21P126 LINC01929 LINC01415 LOC105372126 GC18M055559
GH18J055316 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.1 +344.2 344243 8.6 PKNOX1 SIN3A FEZF1 IRF4 GLIS2 ZNF207 ATF7 RUNX3 SP3 RXRA TCF4 GC18P055312 GC18P055423
GH18J055508 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 651.5 +154.5 154532 4.2 JUN BATF RAD21 YY1 ZNF316 POLR2A FOS RUNX3 MAFK NANOG TCF4 GC18P055498 GC18P055520
GH18J055300 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 650.1 +362.9 362876 3.7 POLR2A FOXP2 RCOR1 MLLT1 CHD2 TCF4 GC18P055312 GC18M055223
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCF4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCF4 gene promoter:
  • deltaCREB
  • CREB
  • E47
  • FOXD3
  • C/EBPalpha
  • SRY
  • Nkx6-1
  • Zic3
  • POU2F1a

Genomic Locations for TCF4 Gene

Genomic Locations for TCF4 Gene
chr18:55,222,331-55,664,787
(GRCh38/hg38)
Size:
442,457 bases
Orientation:
Minus strand
chr18:52,889,562-53,332,018
(GRCh37/hg19)
Size:
442,457 bases
Orientation:
Minus strand

Genomic View for TCF4 Gene

Genes around TCF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF4 Gene

Proteins for TCF4 Gene

  • Protein details for TCF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15884-ITF2_HUMAN
    Recommended name:
    Transcription factor 4
    Protein Accession:
    P15884
    Secondary Accessions:
    • B3KT62
    • B3KUC0
    • B4DT37
    • B4DUG3
    • B7Z5M6
    • B7Z6Y1
    • G0LNT9
    • G0LNU0
    • G0LNU1
    • G0LNU2
    • G0LNU4
    • G0LNU5
    • G0LNU8
    • G0LNU9
    • G0LNV0
    • G0LNV1
    • G0LNV2
    • H3BPQ1
    • Q08AP2
    • Q08AP3
    • Q15439
    • Q15440
    • Q15441

    Protein attributes for TCF4 Gene

    Size:
    667 amino acids
    Molecular mass:
    71308 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1. Interacts with BHLHA9.
    SequenceCaution:
    • Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305}; Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TCF4 Gene

neXtProt entry for TCF4 Gene

Post-translational modifications for TCF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCF4 Gene

Domains & Families for TCF4 Gene

Gene Families for TCF4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TCF4 Gene

Graphical View of Domain Structure for InterPro Entry

P15884

UniProtKB/Swiss-Prot:

ITF2_HUMAN :
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Domain:
  • the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
genes like me logo Genes that share domains with TCF4: view

Function for TCF4 Gene

Molecular function for TCF4 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5-CANNTG-3). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5-ACANNTGT-3 or 5-CCANNTGG-3.
GENATLAS Biochemistry:
transcription factor 4,with several alternatively spliced isoforms

Phenotypes From GWAS Catalog for TCF4 Gene

Gene Ontology (GO) - Molecular Function for TCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS,IDA 8978694
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001011 transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting ISS 8978694
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS 8978694
GO:0001087 obsolete transcription factor activity, TFIIB-class binding ISS --
genes like me logo Genes that share ontologies with TCF4: view
genes like me logo Genes that share phenotypes with TCF4: view

Human Phenotype Ontology for TCF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCF4 Gene

MGI Knock Outs for TCF4:
  • Tcf4 Tcf4<tm1a(EUCOMM)Wtsi>
  • Tcf4 Tcf4<tm1Zhu>
  • Tcf4 Tcf4<tm1.1Hmb>

Animal Model Products

Transcription Factor Targets for TCF4 Gene

Selected GeneGlobe predicted Target genes for TCF4

Clone Products

  • Addgene plasmids for TCF4

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for TCF4 Gene

Localization for TCF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCF4 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 21880741
GO:0005634 nucleus IEA,IDA 1681116
GO:0005667 transcription factor complex ISS 8978694
GO:0070369 beta-catenin-TCF7L2 complex IDA 12651860
GO:1990907 beta-catenin-TCF complex IPI 11955446
genes like me logo Genes that share ontologies with TCF4: view

Pathways & Interactions for TCF4 Gene

genes like me logo Genes that share pathways with TCF4: view

SIGNOR curated interactions for TCF4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006352 DNA-templated transcription, initiation ISS 8978694
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter ISS 8978694
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with TCF4: view

Drugs & Compounds for TCF4 Gene

(2) Additional Compounds for TCF4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TCF4: view

Transcripts for TCF4 Gene

mRNA/cDNA for TCF4 Gene

Unigene Clusters for TCF4 Gene

Transcription factor 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for TCF4

Alternative Splicing Database (ASD) splice patterns (SP) for TCF4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: -
SP6: -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11: - - -
SP12: -
SP13:

ExUns: 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for TCF4 Gene

GeneLoc Exon Structure for
TCF4
ECgene alternative splicing isoforms for
TCF4

Expression for TCF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCF4 Gene

This gene is overexpressed in NK cells (59.0) and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCF4 Gene



NURSA nuclear receptor signaling pathways regulating expression of TCF4 Gene:

TCF4

SOURCE GeneReport for Unigene cluster for TCF4 Gene:

Hs.605153

mRNA Expression by UniProt/SwissProt for TCF4 Gene:

P15884-ITF2_HUMAN
Tissue specificity: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Evidence on tissue expression from TISSUES for TCF4 Gene

  • Nervous system(5)
  • Bone(4.9)
  • Spleen(4.5)
  • Blood(4.4)
  • Skin(4.4)
  • Lung(3.6)
  • Eye(2.7)
  • Kidney(2.7)
  • Lymph node(2.4)
  • Muscle(2.4)
  • Heart(2.2)
  • Intestine(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • stomach
Pelvis:
  • penis
  • rectum
  • testicle
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with TCF4: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TCF4 Gene

Orthologs for TCF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF4 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCF4 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCF7L2 34
  • 98 (a)
OneToOne
TCF4 33
  • 91.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCF4 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCF4 34 33
  • 95.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tcf4 16 34 33
  • 92.64 (n)
rat
(Rattus norvegicus)
Mammalia Tcf4 33
  • 91.62 (n)
chicken
(Gallus gallus)
Aves TCF4 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCF4 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf4 33
  • 80.34 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01109624.1 34
  • 78 (a)
OneToMany
tcf4 34
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta da 34 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-2 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for TCF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TCF4 Gene

ENSEMBL:
Gene Tree for TCF4 (if available)
TreeFam:
Gene Tree for TCF4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCF4: view image

Paralogs for TCF4 Gene

Paralogs for TCF4 Gene

(85) SIMAP similar genes for TCF4 Gene using alignment to 31 proteins:

  • ITF2_HUMAN
  • E9PH57_HUMAN
  • G0LNT1_HUMAN
  • G0LNT2_HUMAN
  • G0LNT3_HUMAN
  • G0LNT4_HUMAN
  • G0LNT5_HUMAN
  • G0LNT6_HUMAN
  • G0LNT7_HUMAN
  • G0LNT8_HUMAN
  • G0LNU4_HUMAN
  • G0LNV2_HUMAN
  • H3BMC8_HUMAN
  • H3BME8_HUMAN
  • H3BML7_HUMAN
  • H3BNI2_HUMAN
  • H3BNZ2_HUMAN
  • H3BP59_HUMAN
  • H3BPG3_HUMAN
  • H3BPJ7_HUMAN
  • H3BRF7_HUMAN
  • H3BSX3_HUMAN
  • H3BT24_HUMAN
  • H3BT95_HUMAN
  • H3BTC3_HUMAN
  • H3BTM9_HUMAN
  • H3BTP3_HUMAN
  • H3BTZ0_HUMAN
  • H3BUQ3_HUMAN
  • K7ERJ0_HUMAN
  • K7ESI6_HUMAN
genes like me logo Genes that share paralogs with TCF4: view

Variants for TCF4 Gene

Sequence variations from dbSNP and Humsavar for TCF4 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1003259439 uncertain-significance, Pitt-Hopkins syndrome 55,225,470(-) A/G/T 3_prime_UTR_variant
rs1014557607 uncertain-significance, Pitt-Hopkins syndrome 55,222,652(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1026555929 uncertain-significance, Pitt-Hopkins syndrome 55,226,123(-) T/A/C 3_prime_UTR_variant
rs1057518848 pathogenic, Cerebral hypoplasia, Global developmental delay 55,229,004(-) ATTG/ATTGATTG coding_sequence_variant, frameshift
rs1057518864 pathogenic, Anteverted nares, Drooling, Epicanthus, Feeding difficulties in infancy, Global developmental delay, Short nose, Stereotypy 55,350,409(-) C/T genic_upstream_transcript_variant, splice_acceptor_variant

Structural Variations from Database of Genomic Variants (DGV) for TCF4 Gene

Variant ID Type Subtype PubMed ID
dgv455e201 CNV deletion 23290073
esv2487089 CNV deletion 19546169
esv2635967 CNV deletion 19546169
esv2659569 CNV deletion 23128226
esv2717133 CNV deletion 23290073
esv3307284 CNV mobile element insertion 20981092
esv3308795 CNV mobile element insertion 20981092
esv3338493 CNV insertion 20981092
esv3378493 CNV insertion 20981092
esv3418608 CNV insertion 20981092
esv3439306 CNV insertion 20981092
esv3445278 CNV insertion 20981092
esv3446750 CNV insertion 20981092
esv3555426 CNV deletion 23714750
esv3583081 CNV loss 25503493
esv3583083 CNV loss 25503493
esv3642595 CNV loss 21293372
esv3642597 CNV loss 21293372
nsv1055286 CNV loss 25217958
nsv1071851 CNV deletion 25765185
nsv1072268 CNV deletion 25765185
nsv1118787 CNV deletion 24896259
nsv1120116 OTHER inversion 24896259
nsv1121953 CNV deletion 24896259
nsv1134718 CNV deletion 24896259
nsv131347 CNV insertion 16902084
nsv2315 CNV deletion 18451855
nsv438291 CNV loss 16468122
nsv828246 CNV gain 20364138
nsv978632 CNV duplication 23825009

Variation tolerance for TCF4 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCF4 Gene

Human Gene Mutation Database (HGMD)
TCF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCF4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF4 Gene

Disorders for TCF4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TCF4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TCF4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITF2_HUMAN
  • Pitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. {ECO:0000269 PubMed:17436254, ECO:0000269 PubMed:17436255, ECO:0000269 PubMed:18728071, ECO:0000269 PubMed:19235238, ECO:0000269 PubMed:20184619, ECO:0000269 PubMed:22045651, ECO:0000269 PubMed:22777675, ECO:0000269 PubMed:25356899}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, Fuchs endothelial, 3 (FECD3) [MIM:613267]: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:24255041, ECO:0000269 PubMed:25168903, ECO:0000269 PubMed:25593321}. Note=The disease is caused by mutations affecting the gene represented in this entry. Causative mutations are heterozygous TCF4 intronic trinucleotide repeat expansions (CTG)n. {ECO:0000269 PubMed:24255041, ECO:0000269 PubMed:25168903, ECO:0000269 PubMed:25593321}.
  • Note=Defects in TCF4 may cause autosomal dominant symmetrical acral keratoderma (SAK)syndrome. Symmetrical acral keratodermadefines is characterized by brown/black hyperkeratotic patches symmetrically distributed on the acral regions, especially the wrists, ankles, dorsa of hands, fingers and feet affects young and middle aged men. Patients have epidermis thickened by acanthosis and compact stratum corneum(PubMed:28921696). {ECO:0000269 PubMed:28921696}.

Additional Disease Information for TCF4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TCF4: view

No data available for Genatlas for TCF4 Gene

Publications for TCF4 Gene

  1. Common variants conferring risk of schizophrenia. (PMID: 19571808) Stefansson H … Collier DA (Nature 2009) 3 22 44 58
  2. A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. (PMID: 9302263) Breschel TS … Ross CA (Human molecular genetics 1997) 2 3 4 58
  3. Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. (PMID: 1681116) Corneliussen B … Grundström T (Journal of virology 1991) 3 4 22 58
  4. Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor. (PMID: 2308860) Henthorn P … Kadesch T (Nucleic acids research 1990) 2 3 4 58
  5. Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. (PMID: 24255041) Mootha VV … Xing C (Investigative ophthalmology & visual science 2014) 3 4 58

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