TMEFF2

The Transmembrane protein with an EGF-like and two follistatin-like domains 2 (TMEFF2) gene is located on chromosome 2q32-q33 and encodes a 374-residue long single polypeptide, type-I transmembrane proteoglycan.[5] According to the HUGO gene nomenclature committee, the aliases of TMEFF2 include,HPP1, Tomoregulin (TR), Transmembrane protein TENB2 (TENB2), Cancer/testis antigen family 120, member 2 (CT120.2) and Transmembrane protein containing EGF and follistatin domains (TPEF). TMEFF2 was identified and characterized by at least five independent groups within the time span of approximately a year.

TMEFF2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTMEFF2, CT120.2, HPP1, TENB2, TPEF, TR, TR-2, transmembrane protein with EGF like and two follistatin like domains 2
External IDsOMIM: 605734 MGI: 1861735 HomoloGene: 9417 GeneCards: TMEFF2
Orthologs
SpeciesHumanMouse
Entrez

23671

56363

Ensembl

ENSG00000144339

ENSMUSG00000026109

UniProt

Q9UIK5

Q9QYM9

RefSeq (mRNA)

NM_001305134
NM_001305145
NM_016192

NM_019790

RefSeq (protein)

NP_001292063
NP_001292074
NP_057276

NP_062764

Location (UCSC)Chr 2: 191.95 – 192.19 MbChr 1: 50.94 – 51.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

TMEFF2 is proteolytically shed from the cell surface.[6] The reported functions of TMEFF2 span across a wide range of physiological and pathological spectra including metabolism, neuroprotection, apoptosis, embryonic development, onco-suppression and endocrine function. TMEFF2 promoter and its 5′-upstream CpG island are methylated in a number of cancers. An inverse correlation between TMEFF2 methylation and the stage, response to therapy and survival outcome has been observed.[5] The detection of methylated free-circulating TMEFF2 DNA has been suggested as a potential diagnostic tool for colorectal cancer. The TMEFF2 downregulation signature equals and sometimes outperforms the Gleason and pathological scores in prostate cancer. TMEFF2 is downregulated in glioma and cotricotropinomas, and it impairs the production of adrenocorticotropic hormone in glioma cells. Through binding the amyloid β protein, its precursor and derivatives, TMEFF2 provides neuroprotection in Alzheimer's disease.[6]

TMEFF2 is a multidomain protein with its N-terminus harbouring a signal peptide followed by two follistatin-like domains, an EGF (epidermal growth factor)-like domain, a transmembrane portion and a short intracellular domain.[5] The EGF-like domain of TMEFF2 appears to be functionally ineffective because of the substitution of a crucial arginine residue (Arg39) with histidine, whereas the follistatin-like domains are reported to be crucial for the relevant functions of TMEFF2 .[7][8]

References
  1. GRCh38: Ensembl release 89: ENSG00000144339 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026109 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Masood M, Grimm S, El-Bahrawy M, Yagüe E (December 2020). "TMEFF2: A Transmembrane Proteoglycan with Multifaceted Actions in Cancer and Disease". Cancers. 12 (12): 3862. doi:10.3390/cancers12123862. PMC 7766544. PMID 33371267.
  6. "TMEFF2 Encyclopedia MDPI".
  7. Horie M, Mitsumoto Y, Kyushiki H, Kanemoto N, Watanabe A, Taniguchi Y, Nishino N, Okamoto T, Kondo M, Mori T, Noguchi K, Nakamura Y, Takahashi EI, Tanigami A (July 2000). "Identification and characterization of TMEFF2, a novel survival factor for hippocampal and mesencephalic neurons". Genomics. 67 (2): 146–52. doi:10.1006/geno.2000.6228. PMID 10903839.
  8. "Entrez Gene: TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2".

Further reading


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