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Aliases for C15orf43 Gene

Aliases for C15orf43 Gene

  • Chromosome 15 Open Reading Frame 43 2 3 5
  • TERB2 4

External Ids for C15orf43 Gene

Previous GeneCards Identifiers for C15orf43 Gene

  • GC15P043037
  • GC15P045248
  • GC15P022073

Summaries for C15orf43 Gene

GeneCards Summary for C15orf43 Gene

C15orf43 (Chromosome 15 Open Reading Frame 43) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C15orf43 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 C15orf43 Gene

Genomics for C15orf43 Gene

Regulatory Elements for C15orf43 Gene

Genomic Location for C15orf43 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 C15orf43 Gene

Genes around C15orf43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C15orf43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C15orf43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C15orf43 Gene

Proteins for C15orf43 Gene

  • Protein details for C15orf43 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for C15orf43 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 C15orf43 Gene

Proteomics data for C15orf43 Gene at MOPED

Post-translational modifications for C15orf43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C15orf43 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C15orf43 Gene

Domains & Families for C15orf43 Gene

Protein Domains for C15orf43 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 C15orf43: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for C15orf43 Gene

Function for C15orf43 Gene

Molecular function for C15orf43 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 C15orf43 Gene

genes like me logo Genes that share phenotypes with C15orf43: view

Animal Model Products

CRISPR 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 C15orf43 Gene

Localization for C15orf43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C15orf43 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C15orf43 Gene COMPARTMENTS Subcellular localization image for C15orf43 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2
plasma membrane 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for C15orf43 Gene

Pathways & Interactions for C15orf43 Gene

SuperPathways for C15orf43 Gene

No Data Available

Interacting Proteins for C15orf43 Gene

Gene Ontology (GO) - Biological Process for C15orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045141 meiotic telomere clustering ISS --
genes like me logo Genes that share ontologies with C15orf43: view

No data available for Pathways by source and SIGNOR curated interactions for C15orf43 Gene

Drugs & Compounds for C15orf43 Gene

No Compound Related Data Available

Transcripts for C15orf43 Gene

mRNA/cDNA for C15orf43 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 C15orf43 Gene

Chromosome 15 open reading frame 43:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C15orf43 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:
SP3: -

Relevant External Links for C15orf43 Gene

GeneLoc Exon Structure for
C15orf43
ECgene alternative splicing isoforms for
C15orf43

Expression for C15orf43 Gene

mRNA expression in normal human tissues for C15orf43 Gene

mRNA differential expression in normal tissues according to GTEx for C15orf43 Gene

This gene is overexpressed in Testis (x50.1).

Protein differential expression in normal tissues from HIPED for C15orf43 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.3) and Ovary (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C15orf43 Gene



SOURCE GeneReport for Unigene cluster for C15orf43 Gene Hs.567701

genes like me logo Genes that share expression patterns with C15orf43: view

Protein tissue co-expression partners for C15orf43 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C15orf43 Gene

Orthologs for C15orf43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C15orf43 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C10H15orf43 35
  • 91.97 (n)
  • 93.18 (a)
C10H15orf43 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C30H15orf43 35
  • 92.27 (n)
  • 90.91 (a)
C15orf43 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933406J08Rik 35
  • 83.8 (n)
  • 79.17 (a)
4933406J08Rik 16
4933406J08Rik 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C15H15orf43 35
  • 99.55 (n)
  • 99.55 (a)
C15orf43 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691952 35
  • 82.25 (n)
  • 78.24 (a)
oppossum
(Monodelphis domestica)
Mammalia C15orf43 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C15orf43 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10H15orf43 35
  • 61.86 (n)
  • 52.88 (a)
C15orf43 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733955 35
  • 61.39 (n)
  • 51.98 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:111992 35
  • 50.26 (n)
  • 40 (a)
C7H15orf43 36
  • 37 (a)
OneToOne
Species with no ortholog for C15orf43:
  • 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 C15orf43 Gene

ENSEMBL:
Gene Tree for C15orf43 (if available)
TreeFam:
Gene Tree for C15orf43 (if available)

Paralogs for C15orf43 Gene

Pseudogenes.org Pseudogenes for C15orf43 Gene

genes like me logo Genes that share paralogs with C15orf43: view

No data available for Paralogs for C15orf43 Gene

Variants for C15orf43 Gene

Sequence variations from dbSNP and Humsavar for C15orf43 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs11638723 - 44,956,923(+) TGACC(C/G)GCGAG reference, missense
rs270809 -- 44,965,675(+) AGCAA(A/C)TACTT intron-variant
rs270810 -- 44,966,662(+) atcac(A/G)cttat intron-variant
rs270811 -- 44,968,285(+) atctc(A/G)gctca intron-variant
rs270814 -- 44,979,460(-) ACAGC(A/G)TATGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for C15orf43 Gene

Variant ID Type Subtype PubMed ID
dgv744e1 CNV Complex 17122850
dgv745e1 CNV Complex 17122850
esv34494 CNV Gain 17911159
nsv7264 OTHER Inversion 18451855
nsv436698 OTHER Inversion 17901297
dgv2377n71 CNV Gain 21882294
nsv513706 OTHER Inversion 21212237
nsv904184 CNV Gain 21882294

Variation tolerance for C15orf43 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 C15orf43 Gene

HapMap Linkage Disequilibrium report
C15orf43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C15orf43 Gene

Disorders for C15orf43 Gene

Relevant External Links for C15orf43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C15orf43

No disorders were found for C15orf43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C15orf43 Gene

Publications for C15orf43 Gene

  1. 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 67
  2. 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
  3. 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

Products for C15orf43 Gene

Sources for C15orf43 Gene

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