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Aliases for TERB2 Gene

Aliases for TERB2 Gene

  • Telomere Repeat Binding Bouquet Formation Protein 2 2 3 5
  • C15orf43 3 4
  • Telomere Repeats-Binding Bouquet Formation Protein 2 3
  • Chromosome 15 Open Reading Frame 43 2

External Ids for TERB2 Gene

Previous HGNC Symbols for TERB2 Gene

  • C15orf43

Summaries for TERB2 Gene

GeneCards Summary for TERB2 Gene

TERB2 (Telomere Repeat Binding Bouquet Formation Protein 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TERB2 Gene

  • Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERB2 Gene

Genomics for TERB2 Gene

Genomic Location for TERB2 Gene

Chromosome:
15
Start:
44,956,633 bp from pter
End:
44,979,229 bp from pter
Size:
22,597 bases
Orientation:
Plus strand

Genomic View for TERB2 Gene

Genes around TERB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERB2 Gene

No data available for Regulatory Elements for TERB2 Gene

Proteins for TERB2 Gene

  • Protein details for TERB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHR7-TERB2_HUMAN
    Recommended name:
    Telomere repeats-binding bouquet formation protein 2
    Protein Accession:
    Q8NHR7

    Protein attributes for TERB2 Gene

    Size:
    220 amino acids
    Molecular mass:
    25316 Da
    Quaternary structure:
    • Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2.

neXtProt entry for TERB2 Gene

Post-translational modifications for TERB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TERB2 Gene

No data available for DME Specific Peptides for TERB2 Gene

Domains & Families for TERB2 Gene

Protein Domains for TERB2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NHR7

UniProtKB/Swiss-Prot:

TERB2_HUMAN :
  • Belongs to the TERB2 family.
Family:
  • Belongs to the TERB2 family.
genes like me logo Genes that share domains with TERB2: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for TERB2 Gene

Function for TERB2 Gene

Molecular function for TERB2 Gene

UniProtKB/Swiss-Prot Function:
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA.

Phenotypes for TERB2 Gene

genes like me logo Genes that share phenotypes with TERB2: view

Animal Model Products

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 TERB2 Gene

Localization for TERB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERB2 Gene

Chromosome, telomere. Nucleus inner membrane. Note=Localizes to telomeres throughout meiotic prophase I and disapears in metaphase I. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250 UniProtKB:Q9D494}.

Gene Ontology (GO) - Cellular Components for TERB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IEA,ISS --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane ISS --
GO:0005694 chromosome IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TERB2: view

No data available for Subcellular locations from COMPARTMENTS for TERB2 Gene

Pathways & Interactions for TERB2 Gene

SuperPathways for TERB2 Gene

No Data Available

Interacting Proteins for TERB2 Gene

Selected Interacting proteins: Q8NHR7-TERB2_HUMAN for TERB2 Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for TERB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007129 synapsis IEA,ISS --
GO:0045141 meiotic telomere clustering IEA,ISS --
GO:0070197 meiotic attachment of telomere to nuclear envelope IEA,ISS --
genes like me logo Genes that share ontologies with TERB2: view

No data available for Pathways by source and SIGNOR curated interactions for TERB2 Gene

Transcripts for TERB2 Gene

mRNA/cDNA for TERB2 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TERB2 Gene

Chromosome 15 open reading frame 43:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TERB2 Gene

No ASD Table

Relevant External Links for TERB2 Gene

GeneLoc Exon Structure for
TERB2
ECgene alternative splicing isoforms for
TERB2

Expression for TERB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TERB2 Gene:

TERB2

SOURCE GeneReport for Unigene cluster for TERB2 Gene:

Hs.567701
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TERB2 Gene

Orthologs for TERB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C15orf43 35
  • 100 (a)
OneToOne
C15H15orf43 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia C30H15orf43 34
  • 92.27 (n)
C15orf43 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C10H15orf43 34 35
  • 91.97 (n)
mouse
(Mus musculus)
Mammalia 4933406J08Rik 34 35
  • 83.8 (n)
Terb2 16
rat
(Rattus norvegicus)
Mammalia LOC691952 34
  • 82.25 (n)
oppossum
(Monodelphis domestica)
Mammalia C15orf43 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C15orf43 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10H15orf43 34
  • 61.86 (n)
C15orf43 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733955 34
  • 61.39 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:111992 34
  • 50.26 (n)
C7H15orf43 35
  • 37 (a)
OneToOne
Species where no ortholog for TERB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 TERB2 Gene

ENSEMBL:
Gene Tree for TERB2 (if available)
TreeFam:
Gene Tree for TERB2 (if available)

Paralogs for TERB2 Gene

Pseudogenes.org Pseudogenes for TERB2 Gene

genes like me logo Genes that share paralogs with TERB2: view

No data available for Paralogs for TERB2 Gene

Variants for TERB2 Gene

Sequence variations from dbSNP and Humsavar for TERB2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs11070438 -- 44,968,621(+) caaaa(C/G)ctcac intron-variant
rs111232510 -- 44,967,311(+) GTCAA(C/T)CTAAA intron-variant
rs111390614 -- 44,971,705(+) AAGCC(A/G)AGACC intron-variant
rs111436722 -- 44,966,162(+) GCATG(A/G)TGAAG intron-variant, reference, missense
rs111439793 -- 44,956,930(+) CGAGC(C/T)GCCGA intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for TERB2 Gene

Variant ID Type Subtype PubMed ID
dgv2588n100 CNV gain 25217958
dgv2589n100 CNV gain 25217958
dgv2590n100 CNV gain 25217958
esv2760029 CNV gain+loss 17122850
esv34494 CNV gain 17911159
esv3636325 CNV gain 21293372
esv3636327 CNV gain 21293372
esv3636328 CNV gain 21293372
nsv1038598 CNV loss 25217958
nsv436698 OTHER inversion 17901297
nsv513706 OTHER inversion 21212237
nsv569304 CNV loss 21841781
nsv569310 CNV loss 21841781
nsv7264 OTHER inversion 18451855
nsv976930 CNV duplication 23825009

Variation tolerance for TERB2 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TERB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERB2 Gene

Disorders for TERB2 Gene

Relevant External Links for TERB2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERB2

No disorders were found for TERB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TERB2 Gene

Publications for TERB2 Gene

  1. MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. (PMID: 26548954) Shibuya H. … Watanabe Y. (Cell 2015) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. (PMID: 26063658) Verdura E. … Tournier-Lasserve E. (Brain 2015) 4 64
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for TERB2 Gene

Sources for TERB2 Gene

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