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Aliases for TMEFF1 Gene

Aliases for TMEFF1 Gene

  • Transmembrane Protein With EGF-Like And Two Follistatin-Like Domains 1 2 3
  • C9orf2 3 4 6
  • Transmembrane Protein With EGF-Like And One Follistatin-Like Domain 3 4
  • Tomoregulin-1 2 3
  • H7365 3 4
  • TR-1 3 4
  • Cancer/Testis Antigen Family 120, Member 1 3
  • Cancer/Testis Antigen Family 120 2
  • Member 1 2
  • CT120.1 3

External Ids for TMEFF1 Gene

Previous HGNC Symbols for TMEFF1 Gene

  • C9orf2

Previous GeneCards Identifiers for TMEFF1 Gene

  • GC09P094036
  • GC09P094979
  • GC09P096693
  • GC09P098584
  • GC09P098570
  • GC09P100284
  • GC09P100315
  • GC09P102230
  • GC09P103204
  • GC09P072834
  • GC09P103235

Summaries for TMEFF1 Gene

GeneCards Summary for TMEFF1 Gene

TMEFF1 (Transmembrane Protein With EGF-Like And Two Follistatin-Like Domains 1) is a Protein Coding gene. Diseases associated with TMEFF1 include brain cancer. Among its related pathways are TGF-beta Signaling Pathway (sino). An important paralog of this gene is MSANTD3-TMEFF1.

UniProtKB/Swiss-Prot for TMEFF1 Gene

  • May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEFF1 Gene

Genomics for TMEFF1 Gene

Regulatory Elements for TMEFF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMEFF1 Gene

100,473,113 bp from pter
100,577,636 bp from pter
104,524 bases
Plus strand

Genomic View for TMEFF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEFF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEFF1 Gene

Proteins for TMEFF1 Gene

  • Protein details for TMEFF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q13086
    • Q8N3T8

    Protein attributes for TMEFF1 Gene

    380 amino acids
    Molecular mass:
    40934 Da
    Quaternary structure:
    • May interact with ST14
    • Sequence=AAA64622.1; Type=Frameshift; Positions=293, 297; Evidence={ECO:0000305}; Sequence=CAA58791.1; Type=Frameshift; Positions=293, 297; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEFF1 Gene


neXtProt entry for TMEFF1 Gene

Proteomics data for TMEFF1 Gene at MOPED

Post-translational modifications for TMEFF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEFF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TMEFF1 (TMEFF1/Tomoregulin-1)

No data available for DME Specific Peptides for TMEFF1 Gene

Domains for TMEFF1 Gene

Protein Domains for TMEFF1 Gene


Suggested Antigen Peptide Sequences for TMEFF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q8IYR6
  • Contains 1 EGF-like domain.
  • Contains 2 Kazal-like domains.
  • Belongs to the tomoregulin family.
genes like me logo Genes that share domains with TMEFF1: view

No data available for Gene Families for TMEFF1 Gene

Function for TMEFF1 Gene

Molecular function for TMEFF1 Gene

GENATLAS Biochemistry: transmembrane protein with an EGF-like domain and two follistatin modules in the extra-cellular region
UniProtKB/Swiss-Prot Function: May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers.

Gene Ontology (GO) - Molecular Function for TMEFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TMEFF1: view

Phenotypes for TMEFF1 Gene

GenomeRNAi human phenotypes for TMEFF1:
genes like me logo Genes that share phenotypes with TMEFF1: view

Animal Model Products

CRISPR Products

miRNA for TMEFF1 Gene

miRTarBase miRNAs that target TMEFF1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEFF1 Gene

Localization for TMEFF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEFF1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for TMEFF1 Gene COMPARTMENTS Subcellular localization image for TMEFF1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMEFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEFF1: view

Pathways for TMEFF1 Gene

SuperPathways for TMEFF1 Gene

genes like me logo Genes that share pathways with TMEFF1: view

Pathways by source for TMEFF1 Gene

1 Sino Biological pathway for TMEFF1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for TMEFF1 Gene

Selected Interacting proteins: Q8IYR6-TEFF1_HUMAN for TMEFF1 Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for TMEFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organismal development IEA --
genes like me logo Genes that share ontologies with TMEFF1: view

Transcripts for TMEFF1 Gene

mRNA/cDNA for TMEFF1 Gene

(207) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEFF1 Gene

Transmembrane protein with EGF-like and two follistatin-like domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEFF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEFF1 Gene

No ASD Table

Relevant External Links for TMEFF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEFF1 Gene

mRNA expression in normal human tissues for TMEFF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEFF1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.8), Brain - Putamen (basal ganglia) (5.2), Brain - Hypothalamus (5.0), Brain - Substantia nigra (4.5), Brain - Nucleus accumbens (basal ganglia) (4.2), and Brain - Hippocampus (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TMEFF1 Gene

SOURCE GeneReport for Unigene cluster for TMEFF1 Gene Hs.598100

mRNA Expression by UniProt/SwissProt for TMEFF1 Gene

Tissue specificity: Expressed predominantly in brain, and at lower levels in heart, placenta and skeletal muscle. Down-regulated in brain tumors as compared to control brain tissues.
genes like me logo Genes that share expressions with TMEFF1: view

In Situ Assay Products

Orthologs for TMEFF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEFF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMEFF1 36
  • 99 (a)
(Bos Taurus)
Mammalia -- 36
  • 99 (a)
  • 95.86 (n)
  • 97.88 (a)
(Canis familiaris)
Mammalia -- 36
  • 71 (a)
(Mus musculus)
Mammalia Tmeff1 35
  • 87.69 (n)
  • 94.34 (a)
Tmeff1 16
Tmeff1 36
  • 95 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
(Rattus norvegicus)
Mammalia Tmeff1 35
  • 88.35 (n)
  • 93.82 (a)
(Gallus gallus)
Aves -- 36
  • 81 (a)
  • 85.55 (n)
  • 91.77 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
African clawed frog
(Xenopus laevis)
Amphibia orf 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15649 35
tmeff1 35
  • 77.09 (n)
  • 78.03 (a)
(Danio rerio)
Actinopterygii tmeff1a 36
  • 50 (a)
tmeff1b 35
  • 61.45 (n)
  • 59.42 (a)
tmeff1b 36
  • 52 (a)
Species with no ortholog for TMEFF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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 TMEFF1 Gene

Gene Tree for TMEFF1 (if available)
Gene Tree for TMEFF1 (if available)

Paralogs for TMEFF1 Gene

Paralogs for TMEFF1 Gene

Selected SIMAP similar genes for TMEFF1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TMEFF1: view

Variants for TMEFF1 Gene

Sequence variations from dbSNP and Humsavar for TMEFF1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
VAR_032060 -

Structural Variations from Database of Genomic Variants (DGV) for TMEFF1 Gene

Variant ID Type Subtype PubMed ID
nsv893623 CNV Gain 21882294
nsv825012 CNV Gain 20364138
nsv6639 CNV Insertion 18451855

Relevant External Links for TMEFF1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEFF1 Gene

Disorders for TMEFF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TMEFF1 Gene including...

Search for TMEFF1 Gene in MalaCards »

Relevant External Links for TMEFF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TMEFF1: view

No data available for UniProtKB/Swiss-Prot for TMEFF1 Gene

Publications for TMEFF1 Gene

  1. Protein interaction analysis of ST14 domains and their point and deletion mutants. (PMID: 16407223) Ge W. … Zheng S. (J. Biol. Chem. 2006) 4 23
  2. A novel transmembrane protein with epidermal growth factor and follistatin domains expressed in the hypothalamo-hypophysial axis of Xenopus laevis. (PMID: 8752111) Eib D.W. … Martens G.J.M. (J. Neurochem. 1996) 3 4
  3. Assignment1 of H7365 (C9orf2) to human chromosome band 9q31 by somatic cell hybrid analysis and fluorescence in situ hybridization. (PMID: 9730596) Eib D.W. … Cremers F.P. (Cytogenet. Cell Genet. 1998) 2 3
  4. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A. … Vieira A.R. (Am. J. Med. Genet. A 2010) 3 48
  5. TMEFF1 and brain tumors. (PMID: 12743596) Gery S. … Koeffler H.P. (Oncogene 2003) 3 4

Products for TMEFF1 Gene

Sources for TMEFF1 Gene

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