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

Gene ID: 23671, updated on 7-Jun-2020

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
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

Genomic context

See TMEFF2 in Genome Data Viewer
Location:
2q32.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (191948300..192194933, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192770615..193059645, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2977 Neighboring gene DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1 Neighboring gene uncharacterized LOC101927366 Neighboring gene CAVIN2 and TMEFF2 antisense RNA 1 Neighboring gene uncharacterized LOC105376754 Neighboring gene uncharacterized LOC112268441 Neighboring gene ribosomal protein S17 pseudogene 8 Neighboring gene PCGEM1 prostate-specific transcript

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of integrin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
substrate adhesion-dependent cell spreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
wound healing, spreading of cells IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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_001305134.1NP_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/Swiss-Prot
    Q9UIK5
    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
    Q9UIK5
    Related
    ENSP00000272771.5, ENST00000272771.10
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    191948300..192194933 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003739.2XP_016859228.1  tomoregulin-2 isoform X2

  2. XM_011510890.3XP_011509192.1  tomoregulin-2 isoform X1

    See identical proteins and their annotated locations for XP_011509192.1

    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 ...
  3. XM_017003740.2XP_016859229.1  tomoregulin-2 isoform X3

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