Aliases for CCDC129 Gene
External Ids for CCDC129 Gene
- HGNC: 27363
- Entrez Gene: 223075
- Ensembl: ENSG00000180347
- UniProtKB: Q6ZRS4
Summaries for CCDC129 Gene
GeneCards Summary for CCDC129 Gene
CCDC129 (Coiled-Coil Domain Containing 129) is a Protein Coding gene. GO annotations related to this gene include receptor binding. An important paralog of this gene is SSFA2.
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 CCDC129 Gene
Genomics for CCDC129 Gene
Regulatory Elements for CCDC129 Gene
Enhancers for CCDC129 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH07G031539 | 0.5 | ENCODE | 12 | +26.6 | 26590 | 1.3 | CTBP1 DPF2 FOXA1 | CCDC129 PPP1R17 |
| GH07G031526 | 0.2 | ENCODE | 9.8 | +13.1 | 13056 | 1.6 | CCDC129 PPP1R17 | |
| GH07G031493 | 0.8 | Ensembl ENCODE | 0.3 | -20.2 | -20228 | 1.6 | JUND POU5F1 CEBPB CEBPG ETS1 | CCDC129 LOC105375224 |
| GH07G031549 | 0.6 | ENCODE | 0.3 | +35.9 | 35889 | 1.4 | RFX1 DPF2 ZBTB40 FOXA1 ZNF217 CTBP1 GATA3 RCOR1 CUX1 FOS | CCDC129 PPP1R17 |
| GH07G031466 | 0.6 | ENCODE | 0.2 | -47.8 | -47820 | 0.3 | BCL11A POLR2A TEAD4 POU5F1 CHD7 EP300 | LOC105375224 CCDC129 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCDC129 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CCDC129 Gene
- Chromosome:
- 7
- Start:
- 31,514,071 bp from pter
- End:
- 31,658,720 bp from pter
- Size:
- 144,650 bases
- Orientation:
- Plus strand
Genomic View for CCDC129 Gene
Genes around CCDC129 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.3 by Ensembl
- 7p14.3 by Entrez Gene
- 7p14.3 by HGNC
CCDC129 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 CCDC129 Gene
Proteins for CCDC129 Gene
-
Protein details for CCDC129 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZRS4-CC129_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 129
- Protein Accession:
- Q6ZRS4
- A2RU17
- B3KTI9
- B4DHB0
- B4E2R1
- F5H3V5
Protein attributes for CCDC129 Gene
- Size:
- 1044 amino acids
- Molecular mass:
- 115403 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAG65223.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for CCDC129 Gene
Post-translational modifications for CCDC129 Gene
Other Protein References for CCDC129 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC129
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-
Abcam antibodies for CCDC129
- Invitrogen Antibodies for CCDC129
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Protein Products
-
OriGene Purified Proteins for CCDC129
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- Search GeneTex for Proteins for CCDC129
Assay Products
No data available for DME Specific Peptides for CCDC129 Gene
Domains & Families for CCDC129 Gene
Suggested Antigen Peptide Sequences for CCDC129 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 CCDC129 Gene
Function for CCDC129 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | receptor binding | IEA | -- |
Phenotypes for CCDC129 Gene
- GenomeRNAi human phenotypes for CCDC129:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC129
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC129 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC129 gene
- Search ViGene Biosciences for CCDC129
CRISPR Products
-
OriGene CRISPR knockouts for CCDC129
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC129
- GenScript: Design CRISPR guide RNA sequences for CCDC129
miRNA Products
- Search ViGene Biosciences for CCDC129
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC129
- Browse OriGene Inhibitory RNA Products For CCDC129
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC129 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC129
-
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 CCDC129
-
ViGene Biosciences adenoviral particle packaged cDNA for CCDC129 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC129 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC129 gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC129 Gene
Localization for CCDC129 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC129 Gene
Pathways & Interactions for CCDC129 Gene
No Data Available
Interacting Proteins for CCDC129 Gene
No data available for Pathways by source and SIGNOR curated interactions for CCDC129 Gene
Transcripts for CCDC129 Gene
mRNA/cDNA for CCDC129 Gene
- (6) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (17) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCDC129 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC129
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC129
- GenScript: Design CRISPR guide RNA sequences for CCDC129
miRNA Products
- Search ViGene Biosciences for CCDC129
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC129
- Browse OriGene Inhibitory RNA Products For CCDC129
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC129 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CCDC129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC129
-
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 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | - |
Expression for CCDC129 Gene
mRNA differential expression in normal tissues according to GTEx for CCDC129 Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.2), Testis (x6.6), Minor Salivary Gland (x6.3), Skin - Not Sun Exposed (Suprapubic) (x5.5), and Brain - Substantia nigra (x5.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC129 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCDC129 Gene:
CCDC129SOURCE GeneReport for Unigene cluster for CCDC129 Gene:
Hs.224269Evidence on tissue expression from TISSUES for CCDC129 Gene
- Nervous system(4.1)
Primer Products
-
OriGene qPCR primer pairs for CCDC129
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC129 Gene
Orthologs for CCDC129 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC129 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCDC129 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCDC129 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccdc129 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc129 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC129 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CCDC129 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CCDC129 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.10580 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccdc129 35 |
|
OneToOne |
- Species where no ortholog for CCDC129 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 CCDC129 Gene
Variants for CCDC129 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035496 | A colorectal cancer sample | ||||
| rs386352287 | Uncertain significance | 31,574,563(+) | ATTTT(A/G)GGAGA | nc-transcript-variant, reference, stop-gained | |
| rs1000000470 | -- | 31,588,046(+) | CCATC(G/T)CCAAT | intron-variant | |
| rs1000031480 | -- | 31,588,248(+) | GGAAG(A/G)AATGG | intron-variant | |
| rs1000049347 | -- | 31,545,608(+) | CAGTA(A/G)AAGAT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1096n67 | CNV | loss | 20364138 |
| dgv11264n54 | CNV | loss | 21841781 |
| dgv11265n54 | CNV | loss | 21841781 |
| dgv11266n54 | CNV | loss | 21841781 |
| dgv11267n54 | CNV | loss | 21841781 |
| dgv11268n54 | CNV | loss | 21841781 |
| dgv166e180 | CNV | loss | 20482838 |
| esv1756820 | CNV | insertion | 17803354 |
| esv24313 | CNV | loss | 19812545 |
| esv2448786 | CNV | insertion | 19546169 |
| esv2670415 | CNV | deletion | 23128226 |
| esv2752155 | CNV | gain | 17911159 |
| esv3340915 | CNV | insertion | 20981092 |
| esv3418820 | CNV | duplication | 20981092 |
| esv3431427 | CNV | duplication | 20981092 |
| esv3541423 | CNV | deletion | 23714750 |
| esv3612721 | CNV | loss | 21293372 |
| esv3612723 | CNV | gain | 21293372 |
| esv3612724 | CNV | gain | 21293372 |
| esv3891094 | CNV | gain | 25118596 |
| esv995660 | CNV | deletion | 20482838 |
| nsv1068321 | OTHER | inversion | 25765185 |
| nsv1125425 | OTHER | inversion | 24896259 |
| nsv1133649 | CNV | deletion | 24896259 |
| nsv1148830 | OTHER | inversion | 26484159 |
| nsv436557 | CNV | deletion | 17901297 |
| nsv606550 | CNV | loss | 21841781 |
| nsv606560 | CNV | loss | 21841781 |
| nsv819342 | CNV | loss | 19587683 |
Residual Variation Intolerance Score:
98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.57;
93.04% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CCDC129 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC129 Gene
Disorders for CCDC129 Gene
Relevant External Links for CCDC129
No disorders were found for CCDC129 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC129 Gene
Publications for CCDC129 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. (PMID: 25854761) Zuo X. … Zhang X. (Nat Commun 2015) 3 64
- Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. (PMID: 24578207) Opherk C. … Dichgans M. (Stroke 2014) 3 64
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
Products for CCDC129 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for CCDC129
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- Custom Assay Services
- OriGene Purified Proteins for CCDC129
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- OriGene qPCR primer pairs for CCDC129
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for CCDC129
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- ViGene Biosciences adenoviral particle packaged cDNA for CCDC129 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for CCDC129 gene
- Search ViGene Biosciences for CCDC129
- Horizon Cell Lines for CCDC129
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC129
- VectorBuilder custom plasmid, inducible vectors for CCDC129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC129
- 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 CCDC129 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
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
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- (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