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Aliases for CCDC127 Gene

Aliases for CCDC127 Gene

  • Coiled-Coil Domain Containing 127 2 3 5

External Ids for CCDC127 Gene

Previous GeneCards Identifiers for CCDC127 Gene

  • GC05M000258

Summaries for CCDC127 Gene

GeneCards Summary for CCDC127 Gene

CCDC127 (Coiled-Coil Domain Containing 127) is a Protein Coding gene.

Additional gene information for CCDC127 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 CCDC127 Gene

Genomics for CCDC127 Gene

GeneHancer (GH) Regulatory Elements for CCDC127 Gene

Promoters and enhancers for CCDC127 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
GH05I000217 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.8 -0.9 -901 3.7 MLX ARID4B SIN3A ZBTB7B ZNF48 POLR2B GLIS2 ZNF213 ZNF207 ZNF143 SDHA CCDC127 ENSG00000260774 HRAT5 PDCD6 PIR59029
GH05I000187 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +27.9 27902 5.6 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B YY1 GLIS2 ZNF143 KLF7 LRRC14B LOC100421419 SLC9A3-AS1 HRAT5 SDHA CCDC127 PLEKHG4B BRD9 EXOC3 PDCD6
GH05I001199 Promoter/Enhancer 2 EPDnew FANTOM5 ENCODE dbSUPER 10.7 -984.3 -984281 6.5 HDGF PKNOX1 ARNT ARID4B ZBTB7B POLR2B ZNF766 E2F8 MCM3 MCM5 SLC6A19 BRD9 LOC100132773 LOC100421419 SLC6A18 EXOC3 CTD-3080P12.3 ENSG00000271119 CCDC127 ENSG00000250173
GH05I000270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.1 -53.3 -53344 2.6 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 HRAT5 PDCD6 PIR51136 PIR36964 SDHA CCDC127
GH05I000367 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.4 -155.2 -155195 13.5 HDGF PKNOX1 SMAD1 ARNT ZBTB7B IRF4 GLIS2 ZNF207 ATF7 FOS PDCD6 BRD9 CEP72 AHRR ENSG00000271781 CCDC127 SDHA HRAT5 EXOC3 EXOC3-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC127 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC127 gene promoter:

Genomic Locations for CCDC127 Gene

Genomic Locations for CCDC127 Gene
chr5:196,871-218,215
(GRCh38/hg38)
Size:
21,345 bases
Orientation:
Minus strand
chr5:196,986-218,330
(GRCh37/hg19)

Genomic View for CCDC127 Gene

Genes around CCDC127 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC127 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC127 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC127 Gene

Proteins for CCDC127 Gene

  • Protein details for CCDC127 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BQ5-CC127_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 127
    Protein Accession:
    Q96BQ5

    Protein attributes for CCDC127 Gene

    Size:
    260 amino acids
    Molecular mass:
    30834 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC127 Gene

Post-translational modifications for CCDC127 Gene

  • Ubiquitination at Lys160
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC127 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC127 Gene

Domains & Families for CCDC127 Gene

Gene Families for CCDC127 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC127 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC127 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC127: view

No data available for UniProtKB/Swiss-Prot for CCDC127 Gene

Function for CCDC127 Gene

Phenotypes From GWAS Catalog for CCDC127 Gene

genes like me logo Genes that share phenotypes with CCDC127: view

Animal Models for CCDC127 Gene

MGI Knock Outs for CCDC127:

Animal Model Products

  • Taconic Biosciences Mouse Models for CCDC127

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC127 Gene

Localization for CCDC127 Gene

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 CCDC127 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC127: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC127 Gene

Pathways & Interactions for CCDC127 Gene

SuperPathways for CCDC127 Gene

No Data Available

Interacting Proteins for CCDC127 Gene

Selected Interacting proteins: Q96BQ5-CC127_HUMAN for CCDC127 Gene via MINT IID

Gene Ontology (GO) - Biological Process for CCDC127 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC127 Gene

Drugs & Compounds for CCDC127 Gene

No Compound Related Data Available

Transcripts for CCDC127 Gene

mRNA/cDNA for CCDC127 Gene

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

Unigene Clusters for CCDC127 Gene

Coiled-coil domain containing 127:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC127 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1: - -
SP2: -

Relevant External Links for CCDC127 Gene

GeneLoc Exon Structure for
CCDC127
ECgene alternative splicing isoforms for
CCDC127

Expression for CCDC127 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC127 Gene

Protein differential expression in normal tissues from HIPED for CCDC127 Gene

This gene is overexpressed in Adrenal (12.3) and Testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC127 Gene



Protein tissue co-expression partners for CCDC127 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC127 Gene:

CCDC127

SOURCE GeneReport for Unigene cluster for CCDC127 Gene:

Hs.294145
genes like me logo Genes that share expression patterns with CCDC127: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC127 Gene

Orthologs for CCDC127 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC127 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC127 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia CCDC127 33 34
  • 82.46 (n)
cow
(Bos Taurus)
Mammalia CCDC127 33 34
  • 82.04 (n)
mouse
(Mus musculus)
Mammalia Ccdc127 33 16 34
  • 81.15 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc127 33
  • 80.29 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC127 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC127 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC127 33 34
  • 67.44 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC127 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc127 33
  • 64.97 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc127a 33 34
  • 57.65 (n)
ccdc127b 34
  • 49 (a)
OneToMany
Species where no ortholog for CCDC127 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 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 CCDC127 Gene

ENSEMBL:
Gene Tree for CCDC127 (if available)
TreeFam:
Gene Tree for CCDC127 (if available)

Paralogs for CCDC127 Gene

Pseudogenes.org Pseudogenes for CCDC127 Gene

genes like me logo Genes that share paralogs with CCDC127: view

No data available for Paralogs for CCDC127 Gene

Variants for CCDC127 Gene

Sequence variations from dbSNP and Humsavar for CCDC127 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1060503707 uncertain-significance, Mitochondrial complex II deficiency, Paragangliomas 5 218,399(-) G/C upstream_transcript_variant
rs1060505002 likely-benign, Mitochondrial complex II deficiency, Paragangliomas 5 218,400(-) C/T upstream_transcript_variant
rs1060505007 likely-benign, Mitochondrial complex II deficiency, Paragangliomas 5, Hereditary cancer-predisposing syndrome 218,379(-) G/C upstream_transcript_variant
rs1061517 pathogenic, likely-pathogenic, Mitochondrial complex II deficiency, Paragangliomas 5, Hereditary cancer-predisposing syndrome 218,356(-) A/C/G/T upstream_transcript_variant
rs187964306 benign, conflicting-interpretations-of-pathogenicity, likely-benign, Mitochondrial complex II deficiency, Paragangliomas 5, not specified, not provided, Pheochromocytoma, Leigh syndrome, Hereditary cancer-predisposing syndrome 218,372(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC127 Gene

Variant ID Type Subtype PubMed ID
dgv3181e59 CNV duplication 20981092
esv1005832 CNV deletion 20482838
esv1179194 CNV deletion 17803354
esv1572597 CNV deletion 17803354
esv2630858 CNV deletion 19546169
esv2752083 CNV gain 17911159
esv2759315 CNV loss 17122850
esv2763907 CNV gain+loss 21179565
esv29543 CNV gain+loss 19812545
esv3569892 CNV loss 25503493
esv3569895 CNV loss 25503493
esv3569900 CNV loss 25503493
esv3569901 CNV loss 25503493
esv3894107 CNV gain 25118596
esv993161 CNV deletion 20482838
nsv1018481 CNV gain 25217958
nsv1018482 CNV loss 25217958
nsv1028658 CNV gain 25217958
nsv1030767 CNV gain 25217958
nsv10644 CNV gain+loss 18304495
nsv1109667 CNV deletion 24896259
nsv428458 CNV loss 18775914
nsv518607 CNV gain 19592680
nsv523382 CNV loss 19592680
nsv596611 CNV loss 21841781

Variation tolerance for CCDC127 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC127 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC127

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC127 Gene

Disorders for CCDC127 Gene

Additional Disease Information for CCDC127

No disorders were found for CCDC127 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC127 Gene

Publications for CCDC127 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 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. Yeast Two-Hybrid and One-Hybrid Screenings Identify Regulators of hsp70 Gene Expression. (PMID: 26873636) Saito Y … Nakayama Y (Journal of cellular biochemistry 2016) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for CCDC127 Gene

Sources for CCDC127 Gene

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