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CCDC107 Gene

protein-coding   GIFtS: 40
GCID: GC09P035658

Coiled-Coil Domain Containing 107

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil Domain Containing 1071 2
PSEC02222
Coiled-Coil Domain-Containing Protein 1072

External Ids:    HGNC: 284651   Entrez Gene: 2032602   Ensembl: ENSG000001598847   UniProtKB: Q8WV483   

Export aliases for CCDC107 gene to outside databases

Previous GC identifers: GC09P035649 GC09P035613


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CCDC107 Gene:
This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple
alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jan 2013)

GeneCards Summary for CCDC107 Gene:
CCDC107 (coiled-coil domain containing 107) is a protein-coding gene.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC107 gene promoter:
         IRF-2   Sp1   p300   Lmo2   LCR-F1   Tal-1beta   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC107 promoter sequence
   Search Chromatin IP Primers for CCDC107

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC107


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9q13.3

CCDC107 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC107 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P035658:  view genomic region     (about GC identifiers)

Start:
35,658,287 bp from pter      End:
35,661,508 bp from pter
Size:
3,222 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CC107_HUMAN, Q8WV48 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 107 precursor  
Size: 283 amino acids; 30509 Da
Sequence caution: Sequence=CAI13448.1; Type=Erroneous gene model prediction;
Secondary accessions: A6XND6 Q5T4R5 Q5T4R8 Q5T4R9 Q86VB6 Q8N2E4
Alternative splicing: 5 isoforms:  Q8WV48-1   Q8WV48-2   Q8WV48-3   Q8WV48-4   Q8WV48-5   (Gene prediction based on EST data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC107: NX_Q8WV48

Explore proteomics data for CCDC107 at MOPED


See CCDC107 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001182129.1  NP_001182130.1  NP_001182146.1  NP_777583.2  

ENSEMBL proteins: 
 ENSP00000367662   ENSP00000367661   ENSP00000414964   ENSP00000330327   ENSP00000413003  
 ENSP00000367665  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8WV48


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for CCDC107:
 Decreased viability with pacli 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC107
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CC107_HUMAN, Q8WV48: Membrane; Single-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol1
endoplasmic reticulum1
extracellular1
nucleus1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with CCDC107           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC107
Interactions:

    Search GeneGlobe Interaction Network for CCDC107

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for CCDC107 (Q8WV482, 3 ENSP000004149644) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
PARP2Q9UGN52, 3, ENSP000002504164MINT-8202139 I2D: score=1 STRING: ENSP00000250416
UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2879145 I2D: score=2 STRING: ENSP00000357292
KPNA2ENSP000003324554STRING: ENSP00000332455
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CCDC107 (CC107)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CCDC107 gene (4 alternative transcripts): 
NM_001195200.1  NM_001195201.1  NM_001195217.1  NM_174923.2  

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000378407(uc010mkx.2) ENST00000378406 ENST00000426546(uc011loy.2 uc003zxj.3 uc022bgm.1 uc011lox.2)
ENST00000327351 ENST00000421582 ENST00000378409
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Selected AceView cDNA sequences (see all 78):

BC051285 CD671809 BI761442 BM701562 BM973388 AW612607 CR619888 AW779780 
NM_174923 BM728271 BQ184451 AI912238 BU627538 W46573 BX430905 CA433437 
BM919149 CD742636 BG424761 BQ187545 BF476246 BC018758 BG831629 AW771511 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CCDC107 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAACCTAGCT
CCDC107 Expression
About this image

CCDC107 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCDC107 Protein Expression
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for CCDC107 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ccdc1071 , 5 coiled-coil domain containing 1071, 5 76.68(n)1
66.67(a)1
  4 (23.04 cM)5
6224041  NM_001037913.21  NP_001033002.11 
 434929005 


ENSEMBL Gene Tree for CCDC107 (if available)
TreeFam Gene Tree for CCDC107 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CCDC107 gene

Find genes that share paralogs with CCDC107           About GenesLikeMe


1 Pseudogenes.org Pseudogene for CCDC107
PGOHUM00000247732


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CCDC107 (see all 175)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1165851711,2
C,F--35624283(+) CATTAA/GTTTCA 4 -- us2k11Minor allele frequency- G:0.01WA 118
rs1888989021,2
--35624313(+) GTGCCG/TGCTAT 4 -- us2k10--------
rs1818966291,2
--35624392(+) GCCCTA/TGTGGA 4 -- us2k10--------
rs1872861451,2
--35624496(+) GTGGGC/TAGTGG 4 -- us2k10--------
rs19341601,2
C,F,A,H--35624624(-) TCTCAC/TGAGGA 4 -- us2k112Minor allele frequency- T:0.49NS NA WA CSA EA 495
rs736454691,2
C,F--35624689(+) ACCCCG/ACTTCG 4 -- us2k11Minor allele frequency- A:0.50WA 2
rs744309531,2
F--35624694(+) GCTTCG/ATCCAT 4 -- us2k11Minor allele frequency- A:0.01NA 120
rs743073061,2
C--35624729(+) GGTCCC/TTGATG 4 -- us2k10--------
rs19341591,2
C,F--35624777(-) TTTCAC/TTTTCT 4 -- us2k11Minor allele frequency- T:0.10WA 118
rs109725521,2
C,F,A,H--35624825(+) GGTTCC/TGAATG 4 -- us2k128Minor allele frequency- T:0.50NS EA NA WA CSA 2711

HapMap Linkage Disequilibrium report for CCDC107 (35658287 - 35661508 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for CCDC107:    About this table    
Variant IDTypeSubtypePubMed ID
dgv8168n71CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CCDC107
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CCDC107 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CCDC107)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)
  9. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 203260 HGNC: 28465 AceView: MGC31967 Ensembl:ENSG00000159884 euGenes: HUgn203260
ECgene: CCDC107 H-InvDB: CCDC107

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CCDC107 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CCDC107 gene:
Search GeneIP for patents involving CCDC107

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC107
 Browse SwitchGear 3'UTR luciferase reporter plasmids for CCDC107
 SwitchGear Promoter luciferase reporter plasmids for CCDC107
 ThermoFisher Antibody for CCDC107
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC107
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC107
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC107
 LSBio Antibodies in human, mouse, rat for CCDC107
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
 Search Addgene for plasmids for CCDC107
  Search eBioscience for proteins for CCDC107
  Search eBioscience for elisas for CCDC107
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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