This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8... See more...

Aliases for TDGF1 Gene

Aliases for TDGF1 Gene

  • Teratocarcinoma-Derived Growth Factor 1 2 3 4 5
  • Epidermal Growth Factor-Like Cripto Protein CR1 3 4
  • Cripto-1 Growth Factor 3 4
  • CRIPTO 3 4
  • CRGF 3 4
  • CR-1 3
  • CR 3

External Ids for TDGF1 Gene

Previous GeneCards Identifiers for TDGF1 Gene

  • GC03P045859
  • GC03P046435
  • GC03P046579
  • GC03P046594
  • GC03P046616

Summaries for TDGF1 Gene

Entrez Gene Summary for TDGF1 Gene

  • This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for TDGF1 Gene

TDGF1 (Teratocarcinoma-Derived Growth Factor 1) is a Protein Coding gene. Diseases associated with TDGF1 include Microform Holoprosencephaly and Septopreoptic Holoprosencephaly. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity. An important paralog of this gene is CFC1.

UniProtKB/Swiss-Prot Summary for TDGF1 Gene

  • GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953).

Gene Wiki entry for TDGF1 Gene

Additional gene information for TDGF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TDGF1 Gene

Genomics for TDGF1 Gene

GeneHancer (GH) Regulatory Elements for TDGF1 Gene

Promoters and enhancers for TDGF1 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
GH03J046572 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 809.2 +1.8 1818 8.7 RBPJ NR2F6 ATF1 CREB1 MIXL1 RAD21 POU5F1 ZNF652 SP1 ZNF148 TDGF1 LRRC2 CCRL2 NONHSAG034958.2
GH03J046584 Enhancer 1 Ensembl ENCODE 48.3 +11.5 11531 2.7 FOXA1 NR2F6 CREB1 MIXL1 HLF RAD21 POU5F1 SP1 CEBPG HNF1A TDGF1 RTP3 LTF ALS2CL PRSS46P LRRC2 ENSG00000283877 piR-50852-094
GH03J046544 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 21.7 -28.3 -28333 3.6 L3MBTL2 POU5F1 SP1 ZNF512 ZNF24 USF1 SIN3A POLR2A NANOG TDGF1 LRRC2-AS1 lnc-LTF-2 piR-40762 LRRC2
GH03J046549 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -24.9 -24933 2 ZBTB40 SMARCE1 CC2D1A L3MBTL2 TEAD4 ZNF148 GTF2F1 MLLT1 CBFA2T2 SMARCA4 TDGF1 NBEAL2 RTP3 LZTFL1 ENSG00000260236 LTF XCR1 ELP6 KIF9-AS1 LRRC2-AS1
GH03J046603 Enhancer 0.5 Ensembl 39.7 +29.5 29467 2.4 HLF ELF3 CEBPG CEBPA GATAD2A FOXP1 NFIL3 SOX5 TDGF1 LRRC2 SCAP piR-50477 piR-50852-094 ENSG00000283877
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TDGF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TDGF1 gene promoter:
  • Bach2
  • CUTL1
  • FOXL1
  • FOXO3
  • FOXO4
  • LCR-F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RREB-1

Genomic Locations for TDGF1 Gene

Genomic Locations for TDGF1 Gene
chr3:46,574,534-46,582,463
(GRCh38/hg38)
Size:
7,930 bases
Orientation:
Plus strand
chr3:46,616,045-46,668,033
(GRCh37/hg19)
Size:
51,989 bases
Orientation:
Plus strand

Genomic View for TDGF1 Gene

Genes around TDGF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TDGF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TDGF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TDGF1 Gene

Proteins for TDGF1 Gene

  • Protein details for TDGF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13385-TDGF1_HUMAN
    Recommended name:
    Teratocarcinoma-derived growth factor 1
    Protein Accession:
    P13385
    Secondary Accessions:
    • Q8TCC1

    Protein attributes for TDGF1 Gene

    Size:
    188 amino acids
    Molecular mass:
    21169 Da
    Quaternary structure:
    • Interacts with the activin type-1 receptor ACVR1B.

neXtProt entry for TDGF1 Gene

Post-translational modifications for TDGF1 Gene

  • The GPI-anchor is attached to the protein in the endoplasmic reticulum and serves to target the protein to the cell surface. There, it is processed by GPI processing phospholipase A2 (TMEM8A), removing an acyl-chain at the sn-2 position of GPI and releasing TDGF1 as a lysophosphatidylinositol-bearing form, which is further cleaved by phospholipase D (GPLD1) into a soluble form.
  • Glycosylation at Asn79

Other Protein References for TDGF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TDGF1
  • Boster Bio Antibodies for TDGF1
  • Santa Cruz Biotechnology (SCBT) Antibodies for TDGF1

No data available for DME Specific Peptides for TDGF1 Gene

Domains & Families for TDGF1 Gene

Gene Families for TDGF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TDGF1 Gene

Suggested Antigen Peptide Sequences for TDGF1 Gene

GenScript: Design optimal peptide antigens:
  • Teratocarcinoma-derived growth factor 1, isoform CRA_a (Q8TCC1_HUMAN)
  • Epidermal growth factor-like cripto protein CR1 (TDGF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13385

UniProtKB/Swiss-Prot:

TDGF1_HUMAN :
  • Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family.
Family:
  • Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family.
genes like me logo Genes that share domains with TDGF1: view

Function for TDGF1 Gene

Molecular function for TDGF1 Gene

UniProtKB/Swiss-Prot Function:
GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953).

Phenotypes From GWAS Catalog for TDGF1 Gene

Gene Ontology (GO) - Molecular Function for TDGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IDA,IBA 11909953
GO:0005515 protein binding IPI 12919325
GO:0008083 growth factor activity IDA 8006041
GO:0038100 nodal binding IBA 21873635
GO:0070697 activin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with TDGF1: view
genes like me logo Genes that share phenotypes with TDGF1: view

Human Phenotype Ontology for TDGF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TDGF1 Gene

MGI Knock Outs for TDGF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TDGF1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TDGF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TDGF1 Gene

Localization for TDGF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TDGF1 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Released from the cell membrane by GPI cleavage. {ECO:0000269 PubMed:27881714}.

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 TDGF1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for TDGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IBA 21873635
GO:0005615 extracellular space IDA 17720976
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA,IBA 12925698
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TDGF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TDGF1 Gene

Pathways & Interactions for TDGF1 Gene

PathCards logo

SuperPathways for TDGF1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with TDGF1: view

Pathways by source for TDGF1 Gene

56 Qiagen pathways for TDGF1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
2 Cell Signaling Technology pathways for TDGF1 Gene

SIGNOR curated interactions for TDGF1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TDGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 9013573
GO:0001763 morphogenesis of a branching structure TAS 10070255
GO:0002042 cell migration involved in sprouting angiogenesis IMP 17720976
GO:0007165 signal transduction IEA --
GO:0007173 NOT epidermal growth factor receptor signaling pathway IDA 8006041
genes like me logo Genes that share ontologies with TDGF1: view

Drugs & Compounds for TDGF1 Gene

(4) Drugs for TDGF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TDGF1: view

Transcripts for TDGF1 Gene

mRNA/cDNA for TDGF1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TDGF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TDGF1 Gene

No ASD Table

Relevant External Links for TDGF1 Gene

GeneLoc Exon Structure for
TDGF1
ECgene alternative splicing isoforms for
TDGF1

Expression for TDGF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TDGF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TDGF1 Gene

This gene is overexpressed in Spleen (x10.3), Kidney - Cortex (x9.7), Adrenal Gland (x4.7), and Ovary (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of TDGF1 Gene:

TDGF1

SOURCE GeneReport for Unigene cluster for TDGF1 Gene:

Hs.385870

mRNA Expression by UniProt/SwissProt for TDGF1 Gene:

P13385-TDGF1_HUMAN
Tissue specificity: Preferentially expressed in gastric and colorectal carcinomas than in their normal counterparts. Expressed in breast and lung.

Evidence on tissue expression from TISSUES for TDGF1 Gene

  • Kidney(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TDGF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with TDGF1: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TDGF1 Gene

Orthologs for TDGF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TDGF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TDGF1 33 32
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TDGF1 33 32
  • 83.79 (n)
OneToMany
-- 33
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TDGF1 32
  • 82.63 (n)
mouse
(Mus musculus)
Mammalia Tdgf1 17 33 32
  • 79.19 (n)
rat
(Rattus norvegicus)
Mammalia Tdgf1 32
  • 78.22 (n)
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 25 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tdgf1.1 32
  • 51.57 (n)
zebrafish
(Danio rerio)
Actinopterygii oep 33
  • 27 (a)
OneToMany
cripto 32
Species where no ortholog for TDGF1 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TDGF1 Gene

ENSEMBL:
Gene Tree for TDGF1 (if available)
TreeFam:
Gene Tree for TDGF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TDGF1: view image

Paralogs for TDGF1 Gene

Paralogs for TDGF1 Gene

(1) SIMAP similar genes for TDGF1 Gene using alignment to 3 proteins:

  • TDGF1_HUMAN
  • F5H1T8_HUMAN
  • L8EA34_HUMAN
genes like me logo Genes that share paralogs with TDGF1: view

Variants for TDGF1 Gene

Sequence variations from dbSNP and Humsavar for TDGF1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs121909501 pathogenic, Forebrain defects 46,579,986(+) C/T coding_sequence_variant, missense_variant
rs148619685 likely-benign, not provided 46,579,840(+) G/C coding_sequence_variant, missense_variant
rs1000142928 -- 46,576,720(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000179862 -- 46,576,198(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000317020 -- 46,580,557(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TDGF1 Gene

Variant ID Type Subtype PubMed ID
nsv1013306 CNV gain 25217958

Variation tolerance for TDGF1 Gene

Residual Variation Intolerance Score: 64.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TDGF1 Gene

Human Gene Mutation Database (HGMD)
TDGF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TDGF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TDGF1 Gene

Disorders for TDGF1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TDGF1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TDGF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TDGF1

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 TDGF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TDGF1 Gene

Publications for TDGF1 Gene

  1. The CRIPTO/FRL-1/CRYPTIC (CFC) domain of human Cripto. Functional and structural insights through disulfide structure analysis. (PMID: 12919325) Foley SF … Wen D (European journal of biochemistry 2003) 3 4 23 56
  2. Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence. (PMID: 1882841) Dono R … Persico MG (American journal of human genetics 1991) 2 3 4 56
  3. A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO. (PMID: 27881714) Lee GH … Kinoshita T (The Journal of cell biology 2016) 3 4 56
  4. Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect. (PMID: 19853938) Wang B … Ma X (International journal of cardiology 2011) 3 43 56
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56

Products for TDGF1 Gene

  • Boster Bio Antibodies for TDGF1
  • Boster Bio ELISA Kits for TDGF1

Sources for TDGF1 Gene