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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCDC154 Gene

protein-coding   GIFtS: 32
GCID: GC16M001484

Coiled-Coil Domain Containing 154

(Previous name: chromosome 16 open reading frame 29)
(Previous symbol: C16orf29)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 1541 2
C16orf291 2
Chromosome 16 Open Reading Frame 291
Coiled-Coil Domain-Containing Protein 1542

External Ids:    HGNC: 344541   Entrez Gene: 6458112   Ensembl: ENSG000001975997   UniProtKB: A6NI563   

Export aliases for CCDC154 gene to outside databases

Previous GC identifers: GC16M001426 GC16M001412


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CCDC154 Gene: 
CCDC154 (coiled-coil domain containing 154) is a protein-coding gene. Diseases associated with CCDC154 include osteopetrosis.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC154 gene promoter:
         HOXA9   HOXA9B   IRF-1   Tal-1beta   YY1   Meis-1b   PPAR-gamma1   PPAR-gamma2   ITF-2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCDC154

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC154


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

CCDC154 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC154 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001484:  view genomic region     (about GC identifiers)

Start:
1,484,384 bp from pter      End:
1,494,557 bp from pter
Size:
10,174 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CC154_HUMAN, A6NI56 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 154  
Size: 674 amino acids; 76013 Da
Subcellular location: Early endosome
Miscellaneous: Overexpression suppresses cell proliferation by inducing G2/M arrest (PubMed:22895184)
Secondary accessions: G9JV18
Alternative splicing: 2 isoforms:  A6NI56-1   A6NI56-2   

Explore the universe of human proteins at neXtProt for CCDC154: NX_A6NI56

Explore proteomics data for CCDC154 at MOPED 

CCDC154 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CCDC154 Protein Expression

REFSEQ proteins: NP_001137452.1  
ENSEMBL proteins: 
 ENSP00000456484   ENSP00000386744   ENSP00000373828  

Human Recombinant Protein Products for CCDC154: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005769early endosome IEA--

CCDC154 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for CCDC154


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: A6NI56


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC154 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCDC154

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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC154

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CCDC154 (CC154)

Search CenterWatch for drugs/clinical trials and news about CCDC154 / CC154

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CCDC154 gene: 
NM_001143980.1  

Unigene Cluster for CCDC154:

Coiled-coil domain containing 154
Hs.355232  [show with all ESTs]
Unigene Representative Sequence: NM_001143980
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000483702 ENST00000409671(uc010uve.2) ENST00000463299(uc010brp.3)
ENST00000389176
miRNA
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Additional mRNA sequence: 

BC011663.2 BC061641.1 JN935901.1 

5 DOTS entries:

DT.91661606  DT.100801634  DT.97810427  DT.101956067  DT.120699722 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC154    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1:                                                                                                                        
SP2:                                                                                            -                           
SP3:                                                                                      -     -                           
SP4:                                                                                                                        
SP5:                                                                                                              -         


ECgene alternative splicing isoforms for CCDC154

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CCDC154 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACTGCTGGG
CCDC154 Expression
About this image


See CCDC154 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC154

SOURCE GeneReport for Unigene cluster: Hs.355232
    SABiosciences Custom PCR Arrays for CCDC154
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC154
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC154

(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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for CCDC154 gene from 1/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ccdc1541 , 5 coiled-coil domain containing 1541, 5 74.67(n)1
68.13(a)1
  17 (12.53 cM)5
2072091  NM_001079929.21  NP_001073398.21 
 251624615 


ENSEMBL Gene Tree for CCDC154 (if available)
TreeFam Gene Tree for CCDC154 (if available)

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

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/314 SNPs in CCDC154 are shown (see all 314)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs359696381,2
C,F--1483946(+) AGGGCC/TGTCTC 1 -- ds50017Minor allele frequency- T:0.22NA CSA WA EA 366
rs1825041631,2
--1483949(+) GCCGTA/CTCCTC 1 -- ds50010--------
rs1871719031,2
--1483990(+) GGCTGC/TTGGGC 1 -- ds50010--------
rs359356031,2
C,F--1484065(+) AACCCG/-GGCAG 1 -- ds50012Minor allele frequency- -:0.50NA CSA 4
rs1911899781,2
C--1484110(+) CTAGGC/TGCTTC 1 -- ds50010--------
rs71965351,2
C,F,A,H--1484127(+) GGCCCC/TAGCCA 1 -- ds500110Minor allele frequency- T:0.03NA WA CSA EA 370
rs1824012071,2
C--1484193(+) GAGAGA/GCTGCT 1 -- ds50010--------
rs1158102281,2
C,F--1484325(+) CACCCC/TGCTCA 1 -- ds50011Minor allele frequency- T:0.02WA 118
rs71921001,2
C,F,A,H--1484338(+) CCCACG/AGGCCC 1 -- ds500110Minor allele frequency- A:0.25NA CSA WA EA 371
rs71969511,2
C,F,A--1484348(+) CTGGGT/GAGGCT 1 -- ds50018Minor allele frequency- G:0.26NA WA CSA EA 367

HapMap Linkage Disequilibrium report for CCDC154 (1484384 - 1494557 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/23 variations for CCDC154 (see all 23):    About this table     
Variant IDTypeSubtypePubMed ID
esv2422427CNV Duplication17116639
nsv904954CNV Loss21882294
dgv2534n71CNV Loss21882294
nsv904950CNV Loss21882294
nsv817713CNV Loss17921354
dgv2527n71CNV Loss21882294
dgv2532n71CNV Loss21882294
nsv904991CNV Loss21882294
nsv471066CNV Loss18288195
nsv905004CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
2 diseases for CCDC154:    About MalaCards
osteopetrosis    

1 disease from the University of Copenhagen DISEASES database for CCDC154:
Osteopetrosis

CCDC154 for disorders           About GeneDecksing


Export disorders for CCDC154 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)
About This Section

PubMed articles for CCDC154 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC154)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Overexpression of a novel osteopetrosis-related gene C CDC154 suppresses cell proliferation by inducing G2/M arrest. (PubMed id 22895184)1, 2 Liao W....Lu X. (2012)
  2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
  3. 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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 645811 HGNC: 34454 Ensembl:ENSG00000197599 euGenes: HUgn645811 ECgene: CCDC154
H-InvDB: CCDC154

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CCDC154 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CCDC154 gene:
Search GeneIP for patents involving CCDC154

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

 
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC154
 Browse SwitchGear 3'UTR luciferase reporter plasmids for CCDC154
 Browse SwitchGear Promoter luciferase reporter plasmids for CCDC154
 Search ThermoFisher Antibodies for CCDC154
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CCDC154
 inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC154
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCDC154
Customized:
 lentivirus for stable overexpression of CCDC154
 lentivirus expression plasmids for stable overexpression of CCDC154
 adenovirus for overexpression of CCDC154
 Search LSBio for Antibodies for CCDC154
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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