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CCDC140 Gene

protein-coding   GIFtS: 36
GCID: GC02P223162

Coiled-Coil Domain Containing 140

  Search for CCDC140
at  

(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 1401 2
Coiled-Coil Domain-Containing Protein 1402

External Ids:    HGNC: 265141   Entrez Gene: 1512782   Ensembl: ENSG000001630817   UniProtKB: Q96MF43   

Export aliases for CCDC140 gene to outside databases

Previous GC identifers: GC02P222872 GC02P215016


(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 CCDC140 Gene:
This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains
a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic
alpha-helices that twist around each other to form a supercoil. (provided by RefSeq, Aug 2011)

GeneCards Summary for CCDC140 Gene:
CCDC140 (coiled-coil domain containing 140) 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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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC140 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC140 promoter sequence
   Search Chromatin IP Primers for CCDC140

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC140


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

Entrez Gene cytogenetic band: 2q36.1   Ensembl cytogenetic band:  2q36.1   HGNC cytogenetic band: 2q36.1

CCDC140 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC140 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P223162:  view genomic region     (about GC identifiers)

Start:
223,162,866 bp from pter      End:
223,169,936 bp from pter
Size:
7,071 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: CC140_HUMAN, Q96MF4 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 140  
Size: 163 amino acids; 18252 Da

Explore the universe of human proteins at neXtProt for CCDC140: NX_Q96MF4

Explore proteomics data for CCDC140 at MOPED


See CCDC140 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_694583.1  
ENSEMBL proteins: 
 ENSP00000295226   ENSP00000407652  

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Search eBioscience for ELISAs for CCDC140 


(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: Q96MF4


(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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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC140
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hsa-miR-3685 hsa-miR-185* hsa-miR-4328 hsa-miR-507 hsa-miR-4260 hsa-miR-550a* hsa-miR-4275 hsa-miR-374c
SwitchGear 3'UTR luciferase reporter plasmidCCDC140 3' UTR sequence
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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 COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol1
plasma membrane1

(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 CCDC140
Interactions:

    Search GeneGlobe Interaction Network for CCDC140

(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 CCDC140 (CC140)



(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 CCDC140 gene: 
NM_153038.1  

Unigene Cluster for CCDC140:

Coiled-coil domain containing 140
Hs.350729  [show with all ESTs]
Unigene Representative Sequence: AK057009
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000295226(uc002vnb.1) ENST00000440903
miRNA
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hsa-miR-3685 hsa-miR-185* hsa-miR-4328 hsa-miR-507 hsa-miR-4260 hsa-miR-550a* hsa-miR-4275 hsa-miR-374c
SwitchGear 3'UTR luciferase reporter plasmidCCDC140 3' UTR sequence
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  QuantiFast Probe-based Assays in human, mouse, rat CCDC140

Additional mRNA sequence: 

AK057009.1 BC109388.1 

1 DOTS entry:

DT.95325453 

2 AceView cDNA sequences:

AK057009 NM_153038 

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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CCDC140 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGGATATTG
CCDC140 Expression
About this image

CCDC140 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCDC140 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.350729
    Custom PCR Arrays for CCDC140
Primer
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QuantiFast Probe-based Assays in human, mouse, rat CCDC140
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC140

(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 chimp.

Orthologs for CCDC140 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC1401 coiled-coil domain containing 140 99.59(n)
98.77(a)
  744142  XM_003309477.1  XP_003309525.1 


ENSEMBL Gene Tree for CCDC140 (if available)
TreeFam Gene Tree for CCDC140 (if available)

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

(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 CCDC140 (see all 123)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1850910251,2
C--222549406(+) GGCAAC/GAGGCT 2 Q E mis10--------
rs2011940851,2
C--222549461(+) CCTGGG/TGCCAG 2 G V mis10--------
rs1406267931,2
C,F--222549477(+) GCACAG/ACCAAC 2 /Q syn11Minor allele frequency- A:0.00NA 4494
rs1500274321,2
C--222549506(+) CAGGTG/AGAGGA 2 /* /W stg11Minor allele frequency- A:0.00NA 4502
rs2020567481,2
--222549518(+) GCAGAC/GTTGTC 2 T S mis10--------
rs1408563991,2
C,F--222549529(+) AGGGGC/TCAAGC 2 P S mis11Minor allele frequency- T:0.00NA 4506
rs1434571021,2
C,F--222549589(+) GAGGCG/ATTTTG 2 /I /V mis12Minor allele frequency- A:0.01NA EU 5481
rs2020847451,2
F--222549850(+) GCGGGG/AGAGAG 1 -- ut311Minor allele frequency- A:0.01EU 563
rs102102191,2
C,F--222549853(+) GGGGAG/TAGAAG 1 -- ut31 ese3 trp37Minor allele frequency- T:0.13WA NA EA EU 914
rs1415491281,2
--222549893(+) AGCAGA/GAGGCC 1 -- ut310--------

HapMap Linkage Disequilibrium report for CCDC140 (223162866 - 223169936 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for CCDC140:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834550CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CCDC140
DNA2.0 Custom Variant and Variant Library Synthesis for CCDC140

(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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Find genes that share disorders with CCDC140           About GenesLikeMe

Genetic Association Database (GAD): CCDC140

Export disorders for CCDC140 gene to outside databases

(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 CCDC140 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CCDC140)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  3. Coiled coil domains: stability, specificity, and biological implications. (PubMed id 14760737)1 Mason J.M. and Arndt K.M. (Chembiochem 2004)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. Coiled coils: a highly versatile protein folding motif. (PubMed id 11166216)1 Burkhard P....Strelkov S.V. (Trends Cell Biol. 2001)
  7. Alpha-helical coiled-coil oligomerization domains in extracellular proteins. (PubMed id 9138288)1 Kammerer R.A. (Matrix Biol. 1997)

(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: 151278 HGNC: 26514 AceView: FLJ32447 Ensembl:ENSG00000163081 euGenes: HUgn151278
ECgene: CCDC140 H-InvDB: CCDC140

(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 CCDC140 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 CCDC140 gene:
Search GeneIP for patents involving CCDC140

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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