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Aliases for CCDC126 Gene

Aliases for CCDC126 Gene

  • Coiled-Coil Domain Containing 126 2 3 5

External Ids for CCDC126 Gene

Previous GeneCards Identifiers for CCDC126 Gene

  • GC07P023603
  • GC07P023522

Summaries for CCDC126 Gene

GeneCards Summary for CCDC126 Gene

CCDC126 (Coiled-Coil Domain Containing 126) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity.

Additional gene information for CCDC126 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC126 Gene

Genomics for CCDC126 Gene

GeneHancer (GH) Regulatory Elements for CCDC126 Gene

Promoters and enhancers for CCDC126 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I023596 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.9 +0.7 749 2.7 PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 YY1 ZNF766 E2F8 ZNF143 CCDC126 LOC105375187 FAM221A FCF1P1
GH07I023011 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.7 -584.1 -584114 3.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B FAM126A CLK2P1 CCDC126 TOMM7 LOC541472 ENSG00000226329 PIR51294
GH07I023297 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 -298.1 -298091 3.4 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 MALSU1 KLHL7-AS1 CLK2P1 TRA2A CCDC126 ENSG00000232627
GH07I023462 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.7 -128.0 -128010 13.3 MLX FEZF1 DMAP1 IRF4 ZNF213 E2F8 ZNF263 SP3 NFYC MEF2D IGF2BP3 EEF1A1P6 TRA2A CCDC126 KLHL7-AS1 NUPL2 MALSU1 GC07P023450
GH07I023570 Enhancer 1 Ensembl ENCODE 12.9 -26.5 -26512 0.3 PKNOX1 RB1 IRF4 RAD21 ETS1 ARID2 ZNF207 ZNF143 BCLAF1 RUNX3 CCDC126 FAM221A LOC442517 CLK2P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC126 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC126 gene promoter:

Genomic Locations for CCDC126 Gene

Genomic Locations for CCDC126 Gene
chr7:23,597,379-23,644,708
(GRCh38/hg38)
Size:
47,330 bases
Orientation:
Plus strand
chr7:23,636,998-23,684,327
(GRCh37/hg19)

Genomic View for CCDC126 Gene

Genes around CCDC126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC126 Gene

Proteins for CCDC126 Gene

  • Protein details for CCDC126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EE4-CC126_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 126
    Protein Accession:
    Q96EE4
    Secondary Accessions:
    • A8K1J6
    • Q6UWP1
    • Q75MQ6

    Protein attributes for CCDC126 Gene

    Size:
    140 amino acids
    Molecular mass:
    15668 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ96871.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for CCDC126 Gene

Post-translational modifications for CCDC126 Gene

  • Glycosylation at Asn110 and posLast=134134
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC126 Gene

No data available for DME Specific Peptides for CCDC126 Gene

Domains & Families for CCDC126 Gene

Gene Families for CCDC126 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC126 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC126 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC126: view

No data available for UniProtKB/Swiss-Prot for CCDC126 Gene

Function for CCDC126 Gene

Phenotypes From GWAS Catalog for CCDC126 Gene

Gene Ontology (GO) - Molecular Function for CCDC126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030144 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity IBA --
genes like me logo Genes that share ontologies with CCDC126: view
genes like me logo Genes that share phenotypes with CCDC126: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CCDC126

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC126 Gene

Localization for CCDC126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC126 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC126 gene
Compartment Confidence
extracellular 5
golgi apparatus 3
plasma membrane 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus IBA --
GO:0016020 membrane IDA,HDA 19946888
genes like me logo Genes that share ontologies with CCDC126: view

Pathways & Interactions for CCDC126 Gene

SuperPathways for CCDC126 Gene

No Data Available

Interacting Proteins for CCDC126 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000304355%0d%0a9606.ENSP00000280187%0d%0a
Selected Interacting proteins: Q96EE4-CC126_HUMAN ENSP00000304355 for CCDC126 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CCDC126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation IBA --
genes like me logo Genes that share ontologies with CCDC126: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC126 Gene

Drugs & Compounds for CCDC126 Gene

No Compound Related Data Available

Transcripts for CCDC126 Gene

Unigene Clusters for CCDC126 Gene

Coiled-coil domain containing 126:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC126 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5:
SP6: - - - - - -
SP7: - - - -

Relevant External Links for CCDC126 Gene

GeneLoc Exon Structure for
CCDC126
ECgene alternative splicing isoforms for
CCDC126

Expression for CCDC126 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC126 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC126 Gene

This gene is overexpressed in Serum (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC126 Gene



Protein tissue co-expression partners for CCDC126 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC126 Gene:

CCDC126

SOURCE GeneReport for Unigene cluster for CCDC126 Gene:

Hs.232296

Evidence on tissue expression from TISSUES for CCDC126 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CCDC126: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC126 Gene

Orthologs for CCDC126 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC126 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC126 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia CCDC126 33 34
  • 92.14 (n)
cow
(Bos Taurus)
Mammalia CCDC126 33 34
  • 90 (n)
mouse
(Mus musculus)
Mammalia Ccdc126 33 16 34
  • 81.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC126 34
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc126 33
  • 80.71 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC126 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC126 33 34
  • 76.02 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC126 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc126 33
  • 71.9 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc126 33 34
  • 63.06 (n)
worm
(Caenorhabditis elegans)
Secernentea gly-2 34
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 2 (a)
OneToOne
Species where no ortholog for CCDC126 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)
  • 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 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)

Evolution for CCDC126 Gene

ENSEMBL:
Gene Tree for CCDC126 (if available)
TreeFam:
Gene Tree for CCDC126 (if available)

Paralogs for CCDC126 Gene

(1) SIMAP similar genes for CCDC126 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCDC126: view

No data available for Paralogs for CCDC126 Gene

Variants for CCDC126 Gene

Sequence variations from dbSNP and Humsavar for CCDC126 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000119151 -- 23,624,380(+) T/A intron_variant
rs1000131456 -- 23,644,038(+) G/A 3_prime_UTR_variant
rs1000181512 -- 23,636,654(+) C/G intron_variant
rs1000265077 -- 23,618,472(+) C/T intron_variant
rs1000282419 -- 23,632,249(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC126 Gene

Variant ID Type Subtype PubMed ID
esv2734130 CNV deletion 23290073
nsv5663 CNV insertion 18451855
nsv7393 OTHER inversion 18451855

Variation tolerance for CCDC126 Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC126 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC126 Gene

Disorders for CCDC126 Gene

Additional Disease Information for CCDC126

No disorders were found for CCDC126 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC126 Gene

Publications for CCDC126 Gene

  1. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for CCDC126 Gene

Sources for CCDC126 Gene

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