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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.

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

Enhancers for TMEFF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F100410 1.2 Ensembl ENCODE 21 -61.7 -61713 2.0 ARID4B SIN3A DMAP1 ZNF143 ZNF263 SP3 NFYC MXD4 ZNF518A KAT8 TMEFF1 TEX10 MSANTD3-TMEFF1 MURC MSANTD3 LOC105376177
GH09F100589 0.6 ENCODE 18.6 +117.4 117351 1.6 JUND ATF3 POLR2A JUN BHLHE40 NFE2 FOS TMEFF1 MURC MSANTD3-TMEFF1 MSANTD3 GC09M100582 RN7SKP87 PIR40273
GH09F100413 0.9 ENCODE 10.9 -59.7 -59695 0.7 HDAC1 TBL1XR1 CHAMP1 TFDP1 RAD51 KLF16 SMARCA4 IKZF1 ZBTB33 FOXJ2 TEX10 MSANTD3-TMEFF1 TMEFF1 MSANTD3 LOC105376177
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEFF1 on UCSC Golden Path with GeneCards custom track

Promoters for TMEFF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001310139 587 2201 CBX3 KLF17 ARID4B RAD21 GLIS2 EGR2 REST TFDP1 ZNF341 GLIS1

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

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

Protein Domains for TMEFF1 Gene

Suggested Antigen Peptide Sequences for TMEFF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EGF-like domain.
  • Belongs to the tomoregulin family.
  • 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.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Pathways & Interactions for TMEFF1 Gene

SuperPathways for TMEFF1 Gene

No Data Available

Interacting Proteins for TMEFF1 Gene

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

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

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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and 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 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.
genes like me logo Genes that share expression patterns with TMEFF1: view

Primer 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
(Bos Taurus)
Mammalia -- 35
  • 99 (a)
  • 95.86 (n)
(Pan troglodytes)
Mammalia TMEFF1 35
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
(Rattus norvegicus)
Mammalia Tmeff1 34
  • 88.35 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
(Mus musculus)
Mammalia Tmeff1 34 16 35
  • 87.69 (n)
(Canis familiaris)
Mammalia -- 35
  • 71 (a)
(Gallus gallus)
Aves TMEFF1 34
  • 85.55 (n)
-- 35
  • 81 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmeff1 34
  • 77.09 (n)
Str.15649 34
African clawed frog
(Xenopus laevis)
Amphibia orf 34
(Danio rerio)
Actinopterygii tmeff1b 34 35
  • 61.45 (n)
tmeff1a 35
  • 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 Sequence Context AA Info Type
rs369755712 Uncertain significance 100,578,134(+) TGAGA(A/T)ATAAA intron-variant, downstream-variant-500B, utr-variant-5-prime
rs1000477 -- 100,511,487(-) AACTT(C/T)GCTCA intron-variant
rs1000478 -- 100,511,121(-) AAAAC(A/G)TAATA intron-variant
rs1000479 -- 100,510,956(-) CTTAG(A/T)GTTGG intron-variant
rs10116458 -- 100,515,201(+) ATTTT(A/T)AAAAA 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)

Relevant External Links for TMEFF1 Gene

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

Relevant External Links for TMEFF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 A.R. (Am. J. Med. Genet. A 2010) 3 46 64
  2. Protein interaction analysis of ST14 domains and their point and deletion mutants. (PMID: 16407223) Ge W. … Zheng S. (J. Biol. Chem. 2006) 4 22 64
  3. TMEFF1 and brain tumors. (PMID: 12743596) Gery S. … Koeffler H.P. (Oncogene 2003) 3 4 64
  4. 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 64
  5. 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 64

Products for TMEFF1 Gene

Sources for TMEFF1 Gene

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