TCF4 Gene (Protein Coding)

Transcription Factor 4

GC18M055222
GIFtS:
46
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. I... See more...

Aliases for TCF4 Gene

Aliases for TCF4 Gene

  • Transcription Factor 4 2 3 4 5
  • Class B Basic Helix-Loop-Helix Protein 19 2 3 4
  • Immunoglobulin Transcription Factor 2 2 3 4
  • SL3-3 Enhancer Factor 2 2 3 4
  • BHLHb19 2 3 4
  • ITF2 2 3 4
  • SEF2-1B 2 3
  • ITF-2 3 4
  • SEF-2 3 4
  • TCF-4 3 4
  • E2-2 2 3
  • SEF2 3 4
  • SEF2-1A 3
  • SEF2-1D 3
  • BHLHB19 4
  • SEF2-1 3
  • CDG2T 3
  • FECD3 3
  • PTHS 3
  • TCF4 5

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 Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Neural Crest Differentiation. 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 Summary 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 , Rfam classification and piRNA Summary for TCF4 Gene

Genomics for TCF4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TCF4 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF4

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

Genomic Locations for TCF4 Gene

Genomic Locations for TCF4 Gene
chr18:55,222,185-55,664,787
(GRCh38/hg38)
Size:
442,603 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 Structure • Gene Density

RefSeq DNA sequence for TCF4 Gene

Proteins for TCF4 Gene

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  • 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

    Alternative splice isoforms for TCF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCF4 Gene

Protein Expression for TCF4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TCF4 Gene

  • Glycosylation at Asn301
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for TCF4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ37722 fis, clone BRHIP2019186, highly similar to TRANSCRIPTION FACTOR 4 (B3KT62_HUMAN)
  • cDNA FLJ39543 fis, clone PUAEN2008939, highly similar to TRANSCRIPTION FACTOR 4 (B3KUC0_HUMAN)
  • cDNA, FLJ79064, highly similar to Transcription factor 4 (B4DUG3_HUMAN)
  • cDNA FLJ58684, highly similar to Transcription factor 4 (B7Z5M6_HUMAN)
  • cDNA FLJ58695, highly similar to Transcription factor 4 (B7Z6Y1_HUMAN)

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

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  2. CRISPR
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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 8978694
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISS 8978694
GO:0001093 TFIIB-class transcription factor binding ISS 8978694
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS 8978694
GO:0003677 DNA binding IEA,IDA 1681116
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<tm1Zhu>
  • Tcf4 Tcf4<tm1.1Hmb>
  • Tcf4 Tcf4<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Transcription Factor Targets for TCF4 Gene

Selected GeneGlobe predicted Target genes for TCF4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Nucleus.

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
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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,ISA --
GO:0005634 nucleus IBA,IDA 1681116
GO:0005667 transcription factor complex ISS 8978694
GO:0070369 beta-catenin-TCF7L2 complex IDA 12651860
GO:1990907 beta-catenin-TCF complex IPI --
genes like me logo Genes that share ontologies with TCF4: view

Pathways & Interactions for TCF4 Gene

PathCards logo

SuperPathways for TCF4 Gene

SuperPathway Contained pathways
1 ERK Signaling
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
2 Human Embryonic Stem Cell Pluripotency
Factors Promoting Cardiogenesis in Vertebrates
.50
Human Embryonic Stem Cell Pluripotency
.50
3 Myogenesis
CDO in myogenesis
1.00
Myogenesis
1.00
4 Mesodermal Commitment Pathway
Endoderm Differentiation
.36
Mesodermal Commitment Pathway
.36
5 Regulation of activated PAK-2p34 by proteasome mediated degradation
Canonical Wnt Pathway
.31
genes like me logo Genes that share pathways with TCF4: view

Pathways by source for TCF4 Gene

2 Sino Biological pathways for TCF4 Gene
3 Reactome pathways for TCF4 Gene
10 Qiagen pathways for TCF4 Gene
  • Colorectal Cancer Metastasis
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • Glioblastoma Multiforme
  • Human Embryonic Stem Cell Pluripotency

SIGNOR curated interactions for TCF4 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006352 DNA-templated transcription, initiation ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter ISS --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with TCF4: view

Drugs & Compounds for TCF4 Gene

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(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

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mRNA/cDNA for TCF4 Gene

46 REFSEQ mRNAs :
53 NCBI additional mRNA sequence :
90 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCF4

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

Expression for TCF4 Gene

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

mRNA expression in normal human tissues for TCF4 Gene
mRNA expression by BioGPS for TCF4 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(5)
  • Spleen(4.6)
  • Skin(4.6)
  • Blood(4.5)
  • Lung(3.8)
  • Kidney(3.3)
  • Eye(3.1)
  • Muscle(2.9)
  • Lymph node(2.9)
  • Heart(2.9)
  • Intestine(2.9)
  • Bone marrow(2.7)
  • Thyroid gland(2.6)
  • Liver(2.5)
  • Pancreas(2.4)
  • Stomach(2.2)
  • Adrenal 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 31
  • 99 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TCF4 31
  • 98 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TCF7L2 31
  • 98 (a)
 OneToOne
TCF4 30
  • 91.96 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TCF4 31
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TCF4 30 31
  • 95.48 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tcf4 30 17 31
  • 92.64 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tcf4 30
  • 91.62 (n)
Chicken
(Gallus gallus)
 Aves TCF4 31
  • 81 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TCF4 31
  • 95 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tcf4 30
  • 80.34 (n)
Zebrafish
(Danio rerio)
 Actinopterygii CABZ01109624.1 31
  • 78 (a)
 OneToMany
tcf4 31
  • 77 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta da 31 32
  • 24 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea hlh-2 31
  • 24 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 OneToMany
Species where no ortholog for TCF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF4 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
641254 Uncertain Significance: Pitt-Hopkins syndrome 55,403,465(-) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
647281 Likely Pathogenic: Pitt-Hopkins syndrome 55,279,657(-) C/T SPLICE_ACCEPTOR_VARIANT,SYNONYMOUS_VARIANT
652444 Uncertain Significance: Pitt-Hopkins syndrome 55,275,648(-) A/G MISSENSE_VARIANT
653383 Likely Benign: Pitt-Hopkins syndrome 55,350,927(-) T/C MISSENSE_VARIANT
656789 Pathogenic: Pitt-Hopkins syndrome 55,261,535(-) T/C SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for TCF4 Gene

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

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

Disorder Aliases PubMed IDs
pitt-hopkins syndrome
  • phs
corneal dystrophy, fuchs endothelial, 3
  • corneal dystrophy, fuchs endothelial, late-onset
fuchs' endothelial dystrophy
  • fced
epicanthus
microcephaly
  • microcephalus
- 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
Open Targets Platform
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 23 41
  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
  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 23
  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
  5. Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma. (PMID: 28921696) Chen P … Zhang X (Journal of the European Academy of Dermatology and Venereology : JEADV 2018) 3 4

ExternalLinks

View latest publications for TCF4 gene in Mastermind

Products for TCF4 Gene

  • Addgene plasmids for TCF4
  • Signalway ELISA kits for TCF4
  • Signalway Proteins for TCF4

Sources for TCF4 Gene