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    TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 [ Homo sapiens (human) ]

    Gene ID: 23671, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMEFF2provided by HGNC
    Official Full Name
    transmembrane protein with EGF like and two follistatin like domains 2provided by HGNC
    Primary source
    HGNC:HGNC:11867
    See related
    Ensembl:ENSG00000144339 MIM:605734; AllianceGenome:HGNC:11867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TR; HPP1; TPEF; TR-2; TENB2; CT120.2
    Summary
    This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Biased expression in prostate (RPKM 5.9), brain (RPKM 4.8) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMEFF2 in Genome Data Viewer
    Location:
    2q32.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191949046..192194933, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (192437261..192683624, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192813772..193059659, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:192711519-192712027 Neighboring gene Sharpr-MPRA regulatory region 6341 Neighboring gene Sharpr-MPRA regulatory region 2977 Neighboring gene CAVIN2 and TMEFF2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5853 Neighboring gene caveolae associated protein 2 Neighboring gene DNAJB1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192867249-192867501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16884 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192976090-192976700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192995676-192996367 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192994983-192995675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:193059605-193060180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:193372281-193372872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:193372873-193373463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:193406886-193407706 Neighboring gene NANOG hESC enhancer GRCh37_chr2:193600042-193600633 Neighboring gene Sharpr-MPRA regulatory region 3165 Neighboring gene PCGEM1 prostate-specific transcript Neighboring gene ribosomal protein S17 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:193795141-193795642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:193795643-193796142 Neighboring gene uncharacterized LOC107985969 Neighboring gene MPRA-validated peak3996 silencer

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association with diabetes-related traits in the Framingham Heart Study.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog
    The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    tomoregulin-2
    Names
    cancer/testis antigen family 120, member 2
    hyperplastic polyposis protein 1
    transmembrane protein TENB2
    transmembrane protein with EGF-like and two follistatin-like domains

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001305134.2NP_001292063.1  tomoregulin-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001292063.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' terminal exon and therefore differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC098617, AF242222, AL157430
      Consensus CDS
      CCDS82548.1
      UniProtKB/TrEMBL
      B2RD22
      Related
      ENSP00000376128.1, ENST00000392314.5
      Conserved Domains (3) summary
      smart00280
      Location:181227
      KAZAL; Kazal type serine protease inhibitors
      cd00104
      Location:95135
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
      cl28647
      Location:236301
      PHA02887; EGF-like protein; Provisional
    2. NM_001305145.1NP_001292074.1  tomoregulin-2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001292074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3, also known as TMEFF2-S) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC092644, AF242222, DQ133599
      Consensus CDS
      CCDS82547.1
      UniProtKB/Swiss-Prot
      Q9UIK5
      Related
      ENSP00000386871.3, ENST00000409056.3
      Conserved Domains (1) summary
      cd00104
      Location:95135
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    3. NM_016192.4NP_057276.2  tomoregulin-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_057276.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC098617, AF179274, AF242222, AL157430
      Consensus CDS
      CCDS2314.1
      UniProtKB/Swiss-Prot
      Q2FA44, Q4ZFW4, Q53H90, Q53RE1, Q8N2R5, Q9NR15, Q9NSS5, Q9P2Y9, Q9UIK5, Q9UK65
      UniProtKB/TrEMBL
      B2RD22, B3KQB7
      Related
      ENSP00000272771.5, ENST00000272771.10
      Conserved Domains (3) summary
      PHA02887
      Location:236301
      PHA02887; EGF-like protein; Provisional
      smart00280
      Location:181227
      KAZAL; Kazal type serine protease inhibitors
      cd00104
      Location:95135
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      191949046..192194933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510890.4XP_011509192.1  tomoregulin-2 isoform X1

      See identical proteins and their annotated locations for XP_011509192.1

      UniProtKB/TrEMBL
      B2RD22, B3KQB7
      Conserved Domains (3) summary
      PHA02887
      Location:227292
      PHA02887; EGF-like protein; Provisional
      smart00280
      Location:172218
      KAZAL; Kazal type serine protease inhibitors
      cd00104
      Location:95135
      KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    2. XM_017003739.3XP_016859228.1  tomoregulin-2 isoform X2

      UniProtKB/TrEMBL
      B2RD22
    3. XM_017003740.3XP_016859229.1  tomoregulin-2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      192437261..192683624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341229.1XP_054197204.1  tomoregulin-2 isoform X1

      UniProtKB/TrEMBL
      B2RD22, B3KQB7
    2. XM_054341230.1XP_054197205.1  tomoregulin-2 isoform X2

      UniProtKB/TrEMBL
      B2RD22
    3. XM_054341231.1XP_054197206.1  tomoregulin-2 isoform X3