The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHL... See more...

Aliases for TCF12 Gene

Aliases for TCF12 Gene

  • Transcription Factor 12 2 3 4 5
  • Class B Basic Helix-Loop-Helix Protein 20 3 4
  • Helix-Loop-Helix Transcription Factor 4 2 3
  • Transcription Factor HTF-4 3 4
  • DNA-Binding Protein HTF4 3 4
  • E-Box-Binding Protein 3 4
  • BHLHb20 3 4
  • TCF-12 3 4
  • HTF4 3 4
  • HEB 3 4
  • HsT17266 3
  • BHLHB20 4
  • CRS3 3
  • P64 3

External Ids for TCF12 Gene

Previous GeneCards Identifiers for TCF12 Gene

  • GC15P052769
  • GC15P050257
  • GC15P054789
  • GC15P054926
  • GC15P054998
  • GC15P057210
  • GC15P034034

Summaries for TCF12 Gene

Entrez Gene Summary for TCF12 Gene

  • The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for TCF12 Gene

TCF12 (Transcription Factor 12) is a Protein Coding gene. Diseases associated with TCF12 include Craniosynostosis 3 and Isolated Plagiocephaly. Among its related pathways are Myogenesis and PAK Pathway. 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 TCF4.

UniProtKB/Swiss-Prot Summary for TCF12 Gene

  • Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').

Gene Wiki entry for TCF12 Gene

Additional gene information for TCF12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCF12 Gene

Genomics for TCF12 Gene

GeneHancer (GH) Regulatory Elements for TCF12 Gene

Promoters and enhancers for TCF12 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
GH15J056917 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.8 812 5 HNRNPK ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A MYC POLR2G SP1 ENSG00000285253 ENSG00000285331 LOC145783 TCF12 LINC00926 piR-56173 L13714-153
GH15J057215 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 +300.8 300784 7.9 JUND FOS TRIM28 MXI1 OSR2 ZNF316 FOSL2 POLR2A SPI1 NFE2 TCF12 LINC00926 HNRNPA3P11 HSALNG0106165
GH15J056885 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 12.9 -30.9 -30906 3 HNRNPK ZBTB40 EP300 TCF12 NRF1 USF1 POLR2G SP1 NCOR1 PHF8 ENSG00000276524 ZNF280D TCF12 LINC00926 LOC105370833 ENSG00000275343 LOC145783 ENSG00000285253 ENSG00000285331
GH15J056978 Enhancer 1 Ensembl ENCODE 17 +67.6 67612 15.8 EP300 TCF12 TCF7 FOXA1 REST CUX1 ZBTB25 RAD21 SKI TEAD1 TCF12 LINC00926 ENSG00000285253 L13714-153
GH15J057031 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.2 +113.8 113811 4.2 FOXK2 USF1 CUX1 ATF2 TBX3 FOXA2 USF2 MAX FOXP1 NR2F1 LINC00926 TCF12 L13714-153 ENSG00000285253
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCF12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCF12

Top Transcription factor binding sites by QIAGEN in the TCF12 gene promoter:
  • Nkx2-5
  • SRF
  • SRF (504 AA)

Genomic Locations for TCF12 Gene

Genomic Locations for TCF12 Gene
chr15:56,918,289-57,299,281
(GRCh38/hg38)
Size:
380,993 bases
Orientation:
Plus strand
chr15:57,210,821-57,591,479
(GRCh37/hg19)
Size:
380,659 bases
Orientation:
Plus strand

Genomic View for TCF12 Gene

Genes around TCF12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF12 Gene

Proteins for TCF12 Gene

  • Protein details for TCF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99081-HTF4_HUMAN
    Recommended name:
    Transcription factor 12
    Protein Accession:
    Q99081
    Secondary Accessions:
    • B4E1W1
    • Q7Z3D9
    • Q86TC1
    • Q86VM2

    Protein attributes for TCF12 Gene

    Size:
    682 amino acids
    Molecular mass:
    72965 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin, E12 and ITF2 proteins. Interacts with PTF1A. Interacts with NEUROD2 (By similarity). Interacts with RUNX1T1. Interacts with AML1-MTG8/ETO (via nervy homology region 2 in oligomerized form) (PubMed:23812588). Interacts with BHLHA9 (PubMed:25466284).

    Three dimensional structures from OCA and Proteopedia for TCF12 Gene

    Alternative splice isoforms for TCF12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCF12 Gene

Post-translational modifications for TCF12 Gene

  • Ubiquitination at Lys110, Lys151, and Lys571
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TCF12 Gene

Domains & Families for TCF12 Gene

Gene Families for TCF12 Gene

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

Protein Domains for TCF12 Gene

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

Suggested Antigen Peptide Sequences for TCF12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54640, highly similar to Transcription factor 12 (B4E1W1_HUMAN)
  • Transcription factor HTF-4 (HTF4_HUMAN)
  • Transcription factor 12 (Q9NQY1_HUMAN)
  • Transcription factor 12 (Q9NQY2_HUMAN)
  • Transcription factor 12 (Q9NQY3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99081

UniProtKB/Swiss-Prot:

HTF4_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 TCF12: view

Function for TCF12 Gene

Molecular function for TCF12 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').
GENATLAS Biochemistry:
transcription factor 12,involved in differentiation of muscle cells and in regulation of gene expression during hematopoiesis

Phenotypes From GWAS Catalog for TCF12 Gene

Gene Ontology (GO) - Molecular Function for TCF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11802795
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 11802795
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IDA 11802795
genes like me logo Genes that share ontologies with TCF12: view
genes like me logo Genes that share phenotypes with TCF12: view

Human Phenotype Ontology for TCF12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCF12 Gene

MGI Knock Outs for TCF12:

Animal Model Products

CRISPR Products

Targeted motifs for TCF12 Gene
HOMER Transcription Factor Regulatory Elements motif TCF12
  • Consensus sequence: ACAGCTGCTG Submotif: canonical Cell Type: GM12878 GEO ID: GSE32465

Clone Products

  • Addgene plasmids for TCF12

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for TCF12 Gene

Localization for TCF12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF12 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 TCF12 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IDA 21828274
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA 21873635
GO:0005737 cytoplasm IDA 21828274
genes like me logo Genes that share ontologies with TCF12: view

Pathways & Interactions for TCF12 Gene

PathCards logo

SuperPathways for TCF12 Gene

SuperPathway Contained pathways
1 Human Embryonic Stem Cell Pluripotency
.50
.50
2 ERK Signaling
.58
.49
3 Myogenesis
1.00
4 NF-kappaB Signaling
5 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with TCF12: view

Pathways by source for TCF12 Gene

3 Reactome pathways for TCF12 Gene
7 Qiagen pathways for TCF12 Gene
  • Epithelial Adherens Junctions
  • Factors Promoting Cardiogenesis in Vertebrates
  • Human Embryonic Stem Cell Pluripotency
  • ILK Signaling
  • JNK Pathway
2 Cell Signaling Technology pathways for TCF12 Gene

SIGNOR curated interactions for TCF12 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TCF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II TAS 8163514
GO:0006955 immune response TAS 1312219
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007517 muscle organ development TAS 1312219
genes like me logo Genes that share ontologies with TCF12: view

Drugs & Compounds for TCF12 Gene

No Compound Related Data Available

Transcripts for TCF12 Gene

mRNA/cDNA for TCF12 Gene

18 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for TCF12

Alternative Splicing Database (ASD) splice patterns (SP) for TCF12 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5:
SP6: - - - - - - - - -
SP7: -
SP8: - -
SP9: - -
SP10:
SP11:
SP12: - - -
SP13: -
SP14:

ExUns: 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:

Relevant External Links for TCF12 Gene

GeneLoc Exon Structure for
TCF12

Expression for TCF12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCF12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCF12 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (56.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCF12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCF12

SOURCE GeneReport for Unigene cluster for TCF12 Gene:

Hs.511504

mRNA Expression by UniProt/SwissProt for TCF12 Gene:

Q99081-HTF4_HUMAN
Tissue specificity: Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.

Evidence on tissue expression from TISSUES for TCF12 Gene

  • Nervous system(4.9)
  • Muscle(4.4)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF12 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TCF12: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TCF12 Gene

Orthologs for TCF12 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF12 31 30
  • 99.72 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCF12 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCF12 31 30
  • 95.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TCF12 31 30
  • 95.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tcf12 30
  • 91.83 (n)
mouse
(Mus musculus)
Mammalia Tcf12 17 31 30
  • 91.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCF12 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCF12 31 30
  • 83.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCF12 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf12 30
  • 79.99 (n)
Str.13108 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8165 30
zebrafish
(Danio rerio)
Actinopterygii tcf12 31 30
  • 69.8 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10475 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008814 30
  • 48.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta da 31 32
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-2 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
OneToMany
Cin.4501 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4501 30
Species where no ortholog for TCF12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 TCF12 Gene

ENSEMBL:
Gene Tree for TCF12 (if available)
TreeFam:
Gene Tree for TCF12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCF12: view image

Paralogs for TCF12 Gene

Paralogs for TCF12 Gene

(2) SIMAP similar genes for TCF12 Gene using alignment to 20 proteins:

  • HTF4_HUMAN
  • B4DGI9_HUMAN
  • B4DZP2_HUMAN
  • B4E1W1_HUMAN
  • E9PGY0_HUMAN
  • F5GY10_HUMAN
  • H0YML2_HUMAN
  • H0YNP8_HUMAN
  • H0YNQ5_HUMAN
  • H3BNF4_HUMAN
  • H3BRK2_HUMAN
  • Q9NQY1_HUMAN
  • Q9NQY2_HUMAN
  • Q9NQY3_HUMAN
  • Q9NQY4_HUMAN
  • Q9NQY5_HUMAN
  • Q9NQY6_HUMAN
  • Q9NQY7_HUMAN
  • Q9NQY8_HUMAN
  • Q9NQY9_HUMAN
genes like me logo Genes that share paralogs with TCF12: view

Variants for TCF12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCF12 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
684478 Not Provided: not provided 57,282,472(+) G/T MISSENSE_VARIANT
rs10047994 Benign: not specified 57,273,178(+) T/C SYNONYMOUS_VARIANT
rs1057518720 Uncertain Significance: Craniosynostosis 3 57,263,249(+) A/C MISSENSE_VARIANT
rs1057520132 Pathogenic: not provided 57,262,113(+) A/ACT FRAMESHIFT_VARIANT
rs1057524509 Likely Pathogenic: not provided 57,243,471(+) G/T SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for TCF12 Gene

Structural Variations from Database of Genomic Variants (DGV) for TCF12 Gene

Variant ID Type Subtype PubMed ID
dgv742e212 CNV loss 25503493
dgv743e212 CNV loss 25503493
esv2749733 CNV deletion 23290073
esv3330040 CNV insertion 20981092
esv3569642 CNV gain 25503493
esv3581725 CNV loss 25503493
esv3636602 CNV loss 21293372
esv3636603 CNV loss 21293372
esv3636606 CNV gain 21293372
esv9081 CNV gain 19470904
nsv1045611 CNV gain 25217958
nsv1069859 CNV deletion 25765185
nsv1113714 CNV deletion 24896259
nsv1127434 CNV deletion 24896259
nsv1546 CNV insertion 18451855
nsv457162 CNV gain 19166990
nsv457164 CNV loss 19166990
nsv472273 CNV novel sequence insertion 20440878
nsv526342 CNV gain 19592680
nsv569577 CNV gain 21841781
nsv569578 CNV loss 21841781
nsv833020 CNV gain+loss 17160897
nsv833021 CNV gain 17160897
nsv94799 CNV insertion 16902084
nsv94818 CNV insertion 16902084
nsv94861 CNV deletion 16902084
nsv974581 CNV duplication 23825009

Variation tolerance for TCF12 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCF12 Gene

Human Gene Mutation Database (HGMD)
TCF12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCF12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF12 Gene

Disorders for TCF12 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TCF12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis 3
  • crs3
isolated plagiocephaly
  • craniosynostosis
isolated brachycephaly
  • non-syndromic bicoronal synostosis
chondrosarcoma, extraskeletal myxoid
  • emc
craniosynostosis
  • craniostenosis
- elite association - COSMIC cancer census association via MalaCards
Search TCF12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HTF4_HUMAN
  • Craniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:23354436, ECO:0000269 PubMed:25271085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TCF12

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 TCF12: view

No data available for Genatlas for TCF12 Gene

Publications for TCF12 Gene

  1. Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4. (PMID: 12826747) Gan TI … Bina M (Cytogenetic and genome research 2002) 3 4 23 54
  2. HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors. (PMID: 1312219) Hu JS … Kingston RE (Molecular and cellular biology 1992) 3 4 23 54
  3. HTF4: a new human helix-loop-helix protein. (PMID: 1886779) Zhang Y … Bina M (Nucleic acids research 1991) 2 3 4 54
  4. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. (PMID: 25271085) Paumard-Hernández B … Heath KE (European journal of human genetics : EJHG 2015) 3 4 54
  5. Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. (PMID: 25466284) Malik S … Grzeschik KH (American journal of human genetics 2014) 3 4 54

Products for TCF12 Gene