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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 5
  • Transmembrane Protein With EGF-Like And One Follistatin-Like Domain 3 4
  • Cancer/Testis Antigen Family 120, Member 1 2 3
  • Tomoregulin-1 2 3
  • C9orf2 3 4
  • H7365 3 4
  • TR-1 3 4
  • Transmembrane Protein With EGF-Like And Two Follistatin-Like Domains 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. 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.

Additional gene information for TMEFF1 Gene

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

Genomics for TMEFF1 Gene

GeneHancer (GH) Regulatory Elements for TMEFF1 Gene

Promoters and enhancers for TMEFF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I100472 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 560.4 +0.8 799 2.8 ZSCAN4 ARID4B KLF17 SIN3A ZNF335 TCF12 GLIS2 EGR2 REST ZNF217 TMEFF1 MSANTD3-TMEFF1 MSANTD3 PLPPR1 CAVIN4
GH09I100425 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -44.8 -44781 5.4 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 FOS MSANTD3 TMEFF1 MSANTD3-TMEFF1
GH09I100411 Enhancer 1.1 Ensembl ENCODE 20.5 -61.4 -61355 1.3 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 NFYC MXD4 ZNF518A KAT8 TMEFF1 TEX10 MSANTD3-TMEFF1 MSANTD3 LOC105376177
GH09I100421 Enhancer 0.7 dbSUPER 22.1 -51.4 -51425 1.1 SOX5 SOX13 GATAD2A FOXA2 FOXA3 HMG20A RARA FOXA1 SKI ATF4 TMEFF1 MSANTD3-TMEFF1 TEX10 INVS MSANTD3 LOC105376177
GH09I100351 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.6 -120.6 -120569 2.7 HDGF SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 POLR2B TEX10 LOC105376177 INVS STX17 TMEFF1 GC09P100306
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEFF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEFF1 gene promoter:

Genomic Locations for TMEFF1 Gene

Genomic Locations for TMEFF1 Gene
104,524 bases
Plus strand

Genomic View for TMEFF1 Gene

Genes around TMEFF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEFF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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)
  • Cloud-Clone Corp. Antibodies for TMEFF1

No data available for DME Specific Peptides for TMEFF1 Gene

Domains & Families for TMEFF1 Gene

Gene Families for TMEFF1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEFF1 Gene

Suggested Antigen Peptide Sequences for TMEFF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tomoregulin family.
  • Belongs to the tomoregulin family.
genes like me logo Genes that share domains with TMEFF1: view

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.

Phenotypes From GWAS Catalog for TMEFF1 Gene

Phenotypes for TMEFF1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEFF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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

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 TMEFF1 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for TMEFF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEFF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEFF1 Gene

Pathways & Interactions for TMEFF1 Gene

SuperPathways for TMEFF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEFF1 Gene

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

No data available for Pathways by source and SIGNOR curated interactions for TMEFF1 Gene

Drugs & Compounds for TMEFF1 Gene

No Compound Related Data Available

Transcripts for TMEFF1 Gene

mRNA/cDNA for TMEFF1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(207) Selected AceView cDNA sequences:
(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x6.8), Brain - Putamen (basal ganglia) (x5.2), Brain - Hypothalamus (x5.0), Brain - Substantia nigra (x4.5), Brain - Nucleus accumbens (basal ganglia) (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for TMEFF1 Gene

This gene is overexpressed in Synovial fluid (31.5), Fetal Brain (23.8), and Pancreatic juice (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEFF1 Gene

Protein tissue co-expression partners for TMEFF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEFF1 Gene:


SOURCE GeneReport for Unigene cluster for TMEFF1 Gene:


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.

Evidence on tissue expression from TISSUES for TMEFF1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TMEFF1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEFF1 Gene

Orthologs for TMEFF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEFF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia -- 34
  • 99 (a)
  • 95.86 (n)
(Pan troglodytes)
Mammalia TMEFF1 34
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
(Rattus norvegicus)
Mammalia Tmeff1 33
  • 88.35 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
(Mus musculus)
Mammalia Tmeff1 33 16 34
  • 87.69 (n)
(Canis familiaris)
Mammalia -- 34
  • 71 (a)
(Gallus gallus)
Aves TMEFF1 33
  • 85.55 (n)
-- 34
  • 81 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmeff1 33
  • 77.09 (n)
Str.15649 33
African clawed frog
(Xenopus laevis)
Amphibia orf 33
(Danio rerio)
Actinopterygii tmeff1b 33 34
  • 61.45 (n)
tmeff1a 34
  • 50 (a)
Species where no ortholog for TMEFF1 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs369755712 uncertain-significance, not specified 100,578,134(+) A/T downstream_transcript_variant
rs1000069793 -- 100,504,598(+) A/G intron_variant
rs1000069916 -- 100,533,281(+) C/G intron_variant
rs1000076640 -- 100,534,356(+) A/T intron_variant
rs1000138297 -- 100,497,623(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv3621233 CNV loss 21293372
esv3621234 CNV loss 21293372
nsv475849 CNV novel sequence insertion 20440878
nsv614955 CNV loss 21841781
nsv6639 CNV insertion 18451855
nsv825012 CNV gain 20364138

Variation tolerance for TMEFF1 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEFF1 Gene

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

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

Disorders for TMEFF1 Gene

Additional Disease Information for TMEFF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TMEFF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEFF1 Gene

Publications for TMEFF1 Gene

  1. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 44 58
  2. Protein interaction analysis of ST14 domains and their point and deletion mutants. (PMID: 16407223) Ge W … Zheng S (The Journal of biological chemistry 2006) 4 22 58
  3. TMEFF1 and brain tumors. (PMID: 12743596) Gery S … Koeffler HP (Oncogene 2003) 3 4 58
  4. Assignment1 of H7365 (C9orf2) to human chromosome band 9q31 by somatic cell hybrid analysis and fluorescence in situ hybridization. (PMID: 9730596) Eib DW … Cremers FP (Cytogenetics and cell genetics 1998) 2 3 58
  5. A novel transmembrane protein with epidermal growth factor and follistatin domains expressed in the hypothalamo-hypophysial axis of Xenopus laevis. (PMID: 8752111) Eib DW … Martens GJ (Journal of neurochemistry 1996) 3 4 58

Products for TMEFF1 Gene

Sources for TMEFF1 Gene

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