Aliases for CCDC127 Gene
External Ids for CCDC127 Gene
- HGNC: 30520
- Entrez Gene: 133957
- Ensembl: ENSG00000164366
- UniProtKB: Q96BQ5
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.
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
Regulatory Elements for CCDC127 Gene
Enhancers for CCDC127 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCDC127 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CCDC127 gene promoter:
Regulatory Element Products
Genomic Location for CCDC127 Gene
- Chromosome:
- 5
- Start:
- 196,871 bp from pter
- End:
- 218,215 bp from pter
- Size:
- 21,345 bases
- Orientation:
- Minus strand
Genomic View for CCDC127 Gene
Genes around CCDC127 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p15.33 by Ensembl
- 5p15.33 by Entrez Gene
- 5p15.33 by HGNC
CCDC127 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
Protein Expression for CCDC127 Gene
Post-translational modifications for CCDC127 Gene
Other Protein References for CCDC127 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC127
- Novus Biologicals Antibodies for CCDC127
-
Abcam antibodies for CCDC127
- Invitrogen Antibodies for CCDC127
- GeneTex CCDC127 antibody for CCDC127
Protein Products
-
OriGene Purified Proteins for CCDC127
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC127
- Origene Custom Protein Services for CCDC127
- Search GeneTex for Proteins for CCDC127
-
Abcam proteins for CCDC127
Assay Products
No data available for DME Specific Peptides for CCDC127 Gene
Domains & Families for CCDC127 Gene
Suggested Antigen Peptide Sequences for CCDC127 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC127 Gene
Function for CCDC127 Gene
Phenotypes for CCDC127 Gene
- MGI mutant phenotypes for CCDC127:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CCDC127:
Animal Models for CCDC127 Gene
- MGI Knock Outs for CCDC127:
-
- Ccdc127 tm1b(EUCOMM)Wtsi
Animal Model Products
-
Taconic Biosciences Mouse Models for CCDC127
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC127
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC127 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC127 gene
- Search ViGene Biosciences for CCDC127
CRISPR Products
-
OriGene CRISPR knockouts for CCDC127
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC127
- GenScript: Design CRISPR guide RNA sequences for CCDC127
miRNA for CCDC127 Gene
- miRTarBase miRNAs that target CCDC127
-
- hsa-mir-615-3p (MIRT039605)
- hsa-mir-8055 (MIRT551641)
- hsa-mir-8081 (MIRT551642)
- hsa-mir-6869-5p (MIRT551643)
- hsa-mir-190a-3p (MIRT551644)
- hsa-mir-6809-5p (MIRT551645)
- hsa-mir-31-5p (MIRT551646)
- hsa-mir-496 (MIRT551647)
- hsa-mir-4317 (MIRT551648)
- hsa-mir-382-3p (MIRT551649)
- hsa-mir-3074-3p (MIRT551650)
- hsa-mir-5011-5p (MIRT551651)
- hsa-mir-5197-5p (MIRT551652)
- hsa-mir-522-3p (MIRT551653)
- hsa-mir-224-3p (MIRT551654)
- hsa-mir-4694-3p (MIRT551655)
- hsa-mir-7856-5p (MIRT648460)
- hsa-mir-4503 (MIRT648461)
- hsa-mir-548x-5p (MIRT648462)
- hsa-mir-548g-5p (MIRT648463)
- hsa-mir-548f-5p (MIRT648464)
- hsa-mir-548aj-5p (MIRT648465)
- hsa-mir-6734-3p (MIRT648466)
- hsa-mir-3667-3p (MIRT648467)
- hsa-mir-6507-3p (MIRT648468)
miRNA Products
- Search ViGene Biosciences for CCDC127
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC127
- Browse OriGene Inhibitory RNA Products For CCDC127
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC127 gene
Clone Products
-
OriGene ORF clones in human for CCDC127
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC127
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC127
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC127
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CCDC127
-
ViGene Biosciences adenoviral particle packaged cDNA for CCDC127 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC127 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC127 gene
Flow Cytometry 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
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC127 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for CCDC127
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC127
- GenScript: Design CRISPR guide RNA sequences for CCDC127
miRNA Products
- Search ViGene Biosciences for CCDC127
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC127
- Browse OriGene Inhibitory RNA Products For CCDC127
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC127 gene
Clone Products
-
OriGene ORF clones in human for CCDC127
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC127
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC127
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC127
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||
| SP2: | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CCDC127 Gene:
CCDC127SOURCE GeneReport for Unigene cluster for CCDC127 Gene:
Hs.294145Primer Products
-
OriGene qPCR primer pairs and template standards for CCDC127
-
OriGene qPCR primer pairs for CCDC127
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC127 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCDC127 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCDC127 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc127 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccdc127 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC127 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC127 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CCDC127 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CCDC127 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc127 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccdc127a 34 35 |
|
||
| ccdc127b 35 |
|
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)
Paralogs for CCDC127 Gene
Pseudogenes.org Pseudogenes for CCDC127 Gene
No data available for Paralogs for CCDC127 Gene
Variants for CCDC127 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1061517 | Pathogenic | 218,356(+) | CAGAC(A/C/G/T)TGTCG | upstream-variant-2KB, reference, missense | |
| rs2303741 | Likely benign | 218,241(-) | GCCGG(A/G)GTCGA | upstream-variant-2KB, utr-variant-5-prime | |
| rs35805262 | Likely benign | 218,272(+) | CCCCC(-/C)TCCCC | upstream-variant-2KB, utr-variant-5-prime | |
| rs377134185 | Likely benign | 218,352(+) | ACAGC(A/G)GACAT | upstream-variant-2KB, utr-variant-5-prime | |
| rs749948037 | Likely benign | 218,412(+) | CTGGC(C/G)AAGGC | upstream-variant-2KB, reference, synonymous-codon |
| 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 |
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)
Relevant External Links 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
Relevant External Links for CCDC127
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- 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
- 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) 2 3 64
- A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
- Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
Products for CCDC127 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for CCDC127
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- OriGene qPCR primer pairs and template standards for CCDC127
- OriGene qPCR primer pairs for CCDC127
- OriGene CRISPR knockouts for CCDC127
- OriGene ORF clones in human for CCDC127
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for CCDC127 in any vector
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- GenScript: Design CRISPR guide RNA sequences for CCDC127
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for CCDC127
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- Abcam antibodies for CCDC127
- Abcam proteins for CCDC127
- Search for Assays for CCDC127 at Abcam
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- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- ViGene Biosciences adenoviral particle packaged cDNA for CCDC127 gene
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- Horizon Cell Lines for CCDC127
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC127
- VectorBuilder custom plasmid, inducible vectors for CCDC127
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC127
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CCDC127 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer