Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C9orf142 Gene

Aliases for C9orf142 Gene

  • Chromosome 9 Open Reading Frame 142 2 3 5
  • Paralog Of XRCC4 And XLF 2 3 4
  • XRCC4-Like Small Protein 3 4
  • PAXX 3 4
  • XLS 4

External Ids for C9orf142 Gene

Previous GeneCards Identifiers for C9orf142 Gene

  • GC09P137163
  • GC09P139006
  • GC09P139886
  • GC09P109345

Summaries for C9orf142 Gene

GeneCards Summary for C9orf142 Gene

C9orf142 (Chromosome 9 Open Reading Frame 142) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for C9orf142 Gene

  • Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf142 Gene

Genomics for C9orf142 Gene

Regulatory Elements for C9orf142 Gene

Enhancers for C9orf142 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C9orf142 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf142 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C9orf142 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf142 Gene

Chromosome:
9
Start:
136,992,418 bp from pter
End:
136,993,984 bp from pter
Size:
1,567 bases
Orientation:
Plus strand

Genomic View for C9orf142 Gene

Genes around C9orf142 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf142 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf142 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf142 Gene

Proteins for C9orf142 Gene

  • Protein details for C9orf142 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUH6-PAXX_HUMAN
    Recommended name:
    Protein PAXX
    Protein Accession:
    Q9BUH6
    Secondary Accessions:
    • Q8IY19

    Protein attributes for C9orf142 Gene

    Size:
    204 amino acids
    Molecular mass:
    21640 Da
    Quaternary structure:
    • Homodimer. Interacts with the DNA-bound XRCC5/Ku80 and XRCC6/Ku70 heterodimer (Ku complex); the interaction is direct. Associates with the non-homologous end joining (NHEJ) complex which is at least composed of the core proteins XRCC5/Ku80, XRCC6/Ku70, PRKDC/DNA-PKcs, LIG4 and XRCC4. Additional components of the NHEJ complex include NHEJ1/XLF and C9orf142/PAXX.

    Three dimensional structures from OCA and Proteopedia for C9orf142 Gene

    Alternative splice isoforms for C9orf142 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf142 Gene

Proteomics data for C9orf142 Gene at MOPED

Post-translational modifications for C9orf142 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf142 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf142 Gene

Domains & Families for C9orf142 Gene

Protein Domains for C9orf142 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BUH6

UniProtKB/Swiss-Prot:

PAXX_HUMAN :
  • The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.
Domain:
  • The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.
  • Contains 1 PISA domain.
genes like me logo Genes that share domains with C9orf142: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for C9orf142 Gene

Function for C9orf142 Gene

Molecular function for C9orf142 Gene

UniProtKB/Swiss-Prot Function:
Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery.

Gene Ontology (GO) - Molecular Function for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25574025
genes like me logo Genes that share ontologies with C9orf142: view
genes like me logo Genes that share phenotypes with C9orf142: view

Animal Model Products

CRISPR Products

miRNA for C9orf142 Gene

miRTarBase miRNAs that target C9orf142

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf142 Gene

Localization for C9orf142 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf142 Gene

Nucleus. Note=Predominantly localizes to the nucleus. Accumulates at sites of DNA damage generated by laser microirradiation. {ECO:0000269 PubMed:25574025, ECO:0000269 PubMed:25670504}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf142 Gene COMPARTMENTS Subcellular localization image for C9orf142 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
GO:0070419 nonhomologous end joining complex IDA 25670504
genes like me logo Genes that share ontologies with C9orf142: view

Pathways & Interactions for C9orf142 Gene

SuperPathways for C9orf142 Gene

No Data Available

Interacting Proteins for C9orf142 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360682%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000360682 for C9orf142 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051103 DNA ligation involved in DNA repair IMP 25574025
genes like me logo Genes that share ontologies with C9orf142: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf142 Gene

Drugs & Compounds for C9orf142 Gene

No Compound Related Data Available

Transcripts for C9orf142 Gene

mRNA/cDNA for C9orf142 Gene

Unigene Clusters for C9orf142 Gene

Chromosome 9 open reading frame 142:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf142 Gene

No ASD Table

Relevant External Links for C9orf142 Gene

GeneLoc Exon Structure for
C9orf142
ECgene alternative splicing isoforms for
C9orf142

Expression for C9orf142 Gene

mRNA expression in normal human tissues for C9orf142 Gene

Protein differential expression in normal tissues from HIPED for C9orf142 Gene

This gene is overexpressed in Tlymphocyte (21.6), Peripheral blood mononuclear cells (13.1), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C9orf142 Gene



SOURCE GeneReport for Unigene cluster for C9orf142 Gene Hs.409582

genes like me logo Genes that share expression patterns with C9orf142: view

Protein tissue co-expression partners for C9orf142 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C9orf142 Gene

Orthologs for C9orf142 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf142 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia C9H9orf142 35
  • 85.67 (n)
  • 80.5 (a)
C9orf142 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC029214 35
  • 79.33 (n)
  • 76.5 (a)
BC029214 16
BC029214 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf142 35
  • 99.39 (n)
  • 98.77 (a)
C9ORF142 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306215 35
  • 82.72 (n)
  • 79.63 (a)
cow
(Bos Taurus)
Mammalia C11H9ORF142 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf142 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf142 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf142 36
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C5H9orf142 36
  • 30 (a)
OneToOne
Species with no ortholog for C9orf142:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C9orf142 Gene

ENSEMBL:
Gene Tree for C9orf142 (if available)
TreeFam:
Gene Tree for C9orf142 (if available)

Paralogs for C9orf142 Gene

No data available for Paralogs for C9orf142 Gene

Variants for C9orf142 Gene

Sequence variations from dbSNP and Humsavar for C9orf142 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs114273084 -- 136,993,683(+) GCCCC(C/T)TTCCT intron-variant
rs115143902 -- 136,993,519(+) TTCGG(A/C)GAAGG intron-variant
rs117346229 -- 136,991,526(+) TGCGC(A/G)GGACA upstream-variant-2KB
rs2386134 -- 136,991,984(-) GCCCC(C/G)GCTCC upstream-variant-2KB
rs137992888 -- 136,993,692(+) CTGCG(C/T)CCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf142 Gene

Variant ID Type Subtype PubMed ID
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv818738 CNV Gain 17921354
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
nsv894483 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894500 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894503 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8425n71 CNV Loss 21882294
dgv8427n71 CNV Gain 21882294
nsv894513 CNV Loss 21882294
nsv894514 CNV Loss 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
dgv8433n71 CNV Gain 21882294
nsv894546 CNV Loss 21882294
nsv894550 CNV Gain 21882294
dgv8437n71 CNV Gain 21882294

Variation tolerance for C9orf142 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.75% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for C9orf142 Gene

Disorders for C9orf142 Gene

Relevant External Links for C9orf142

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf142

No disorders were found for C9orf142 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf142 Gene

Publications for C9orf142 Gene

  1. DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair. (PMID: 25574025) Ochi T. … Jackson S.P. (Science 2015) 2 3 4 67
  2. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  3. Interactome analysis identifies a new paralogue of XRCC4 in non- homologous end joining DNA repair pathway. (PMID: 25670504) Xing M. … Xu D. (Nat. Commun. 2015) 3
  4. XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair. (PMID: 25941166) Craxton A. … Malewicz M. (Cell Death Differ. 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for C9orf142 Gene

Sources for C9orf142 Gene

Content