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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC147 Gene

protein-coding GIFtS: 39
GCID: GC10P106103

coiled-coil domain containing 147

(Previous name: chromosome 10 open reading frame 80 )
(Previous symbol: C10orf80)

Search for CCDC147
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 147¹ ²		BA127L20.4¹
C10orf80¹ ² ³		BA127L20.5¹
BA554P13.1¹		BA127L20.4 (Novel Protein)²
FLJ35908¹		BA127L20.5 (Novel Protein)²
Chromosome 10 Open Reading Frame 80¹		Coiled-Coil Domain-Containing Protein 147²

External Ids:	HGNC: 26676¹	Entrez Gene: 159686²	Ensembl: ENSG00000120051⁷	UniProtKB: Q5T655³

Export aliases for CCDC147 gene to outside databases

Previous GC identifer: GC10P099745

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC147 gene promoter:
HOXA9B SRF ISGF-3 SRF (504 AA) MZF-1 POU2F1 POU2F1a POU2F1b FOXO4 POU2F1c
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC147 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC147

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC147

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

Entrez Gene cytogenetic band: 10q25.1 Ensembl cytogenetic band: 10q25.1 HGNC cytogenetic band: 10q25.1

CCDC147 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC147 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P106103: view genomic region (about GC identifiers)

Start:	106,113,522 bp from pter	End:	106,214,848 bp from pter
Size:	101,327 bases	Orientation:	plus strand

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

UniProtKB/Swiss-Prot: CC147_HUMAN, Q5T655 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 147

Size: 872 amino acids; 103417 Da

Secondary accessions: D3DRA6 Q8NA27

Explore the universe of human proteins at neXtProt for CCDC147: NX_Q5T655

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T655

CCDC147 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001008723.1

ENSEMBL proteins:

ENSP00000358718 ENSP00000358717 ENSP00000323620

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

ProtoNet protein and cluster: Q5T655

1 Blocks protein family: IPB011072 Protein kinase PKN/PRK1

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CCDC147

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for CCDC147 (Q5T655³ ENSP00000358718⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TERF1	P54274³, ENSP00000276603⁴	I2D: score=1 STRING: ENSP00000276603
POT1	Q9NUX5³, ENSP00000350249⁴	I2D: score=1 STRING: ENSP00000350249

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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Browse Tocris compounds for CCDC147
Search CenterWatch for drugs/clinical trials and news about CCDC147 / CC147

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CCDC147 gene:

NM_001008723.1

Unigene Cluster for CCDC147:

Coiled-coil domain containing 147

Hs.253576 [show with all ESTs]

Unigene Representative Sequence: BX641120

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000369704(uc001kyh.3) ENST00000369703 ENST00000312902

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Additional cDNA sequence:

AK093227.1 AK296463.1 BC036225.1 BC109126.2 BX641120.1

2 DOTS entries:

DT.95069409 DT.65288522

12 AceView cDNA sequences:

BC036225 AX748000 AW206651 BX280979 AK093227 BI461075 AW273472 AW594041

BX641120 AI341154 BG185779 CD703576

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™, 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

CCDC147 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGATGAGAAA

About this image

CCDC147 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Secondary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC147 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC147

SOURCE GeneReport for Unigene cluster: Hs.253576

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In Situ
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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CCDC147 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc147^{1 , 5}	coiled-coil domain containing 147^{1, 5}	83.41(n)¹ 86.7(a)¹		19 (40.60 cM)⁵ 381229¹ NM_001163267.1¹ NP_001156739.1¹ 47937712⁵
chicken (Gallus gallus)	Aves	CCDC147¹	coiled-coil domain containing 147	72.04(n) 68.25(a)		423882 XM_421748.2 XP_421748.2
lizard (Anolis carolinensis)	Reptilia	CCDC147⁶	--	76(a)	1 ↔ 1	3(41661224-41747704)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32243²	Xenopus laevis transcribed sequences	75.5(n)		CD360194.1
zebrafish (Danio rerio)	Actinopterygii	Dr.18541²	Transcribed sequence	74.79(n)		BQ419634.1
fruit fly (Drosophila melanogaster)	Insecta	CG5882¹	CG5882	41.92(n) 26.27(a)		43269 NM_143283.1 NP_651540.1

ENSEMBL Gene Tree for CCDC147 (if available)
TreeFam Gene Tree for CCDC147 (if available)

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

Paralogs for CCDC147 gene

CCDC146²

CCDC147 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73335149^1,2	C,	--	99743378(+)	`GCAGAC/TTGATG`	1	--	nc-transcript-variant		1		WA	2
rs76452395^1,2		--	99743426(+)	`AAGAAA/GAAAGA`	1	--	int¹		0	--	--	--	--
rs111917032^1,2		--	99743448(+)	`ATAGAC/TACAGA`	1	--	int¹		1		CSA	2
rs113767939^1,2		--	99743467(+)	`AGGCAG/TTTCAC`	1	--	int¹		1		CSA	2
rs111293356^1,2		--	99743676(+)	`TATGAA/GTGTTT`	1	--	int¹		1		CSA	1
rs113857506^1,2		--	99743777(+)	`GGTACG/ACAATC`	1	--	int¹		1		CSA	1
rs76368035^1,2		--	99743832(+)	`GCATCG/ATTGTG`	1	--	int¹		1		WA	118
rs111685063^1,2		--	99744086(+)	`CATCCC/TTATAA`	1	--	int¹		1		CSA	2
rs17116955^1,2	C,F,	--	99744406(+)	`TTTTTA/TAAAAA`	1	--	int¹		4		NA EA	258
rs76030916^1,2		--	99744627(+)	`GGGGGA/CGAAGA`	1	--	nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC147 (106113522 - 106214848 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC147: --

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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.)
About This Section

(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 CCDC147 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC147)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)¹ Giannone R.J....Liu Y. (2010)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
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

		AND	OR
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: 159686	HGNC: 26676	AceView: C10orf80	Ensembl:ENSG00000120051	euGenes: HUgn159686
ECgene: CCDC147	H-InvDB: CCDC147

(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

Name	Description
PharmGKB entry for CCDC147	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC147 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC147 gene:
Search GeneIP for patents involving CCDC147

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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About This Section


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	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC147

	SwitchGear 3'UTR luciferase reporter plasmids for CCDC147
	SwitchGear Promoter luciferase reporter plasmids for CCDC147

Search ThermoFisher Antibodies for CCDC147

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC147

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CCDC147 gene at Home site.

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CCDC147 Gene

coiled-coil domain containing 147

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CCDC147 Gene

coiled-coil domain containing 147

Aliasesfor CCDC147 gene

Summariesfor CCDC147 gene

Genomic Viewsfor CCDC147 gene

Proteinsfor CCDC147 gene

Protein Domains /Familiesfor CCDC147 gene

Functionfor CCDC147 gene

Pathways & Interactionsfor CCDC147 gene

Drugs & Compoundsfor CCDC147 gene

Transcriptsfor CCDC147 gene

Expression for CCDC147 gene

Orthologsfor CCDC147 gene

Paralogsfor CCDC147 gene

Genomic Variantsfor CCDC147 gene

Disorders / Diseasesfor CCDC147 gene

Publicationsfor CCDC147 gene

External Searches for CCDC147 gene

Genome Databases showing CCDC147 gene

Other Databases showing CCDC147 gene

Specialized Databases showing CCDC147 gene

Intellectual Propertyfor CCDC147 gene

Productsfor CCDC147 gene

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Aliases
for CCDC147 gene

Summaries
for CCDC147 gene

Genomic Views
for CCDC147 gene

Proteins
for CCDC147 gene

Protein Domains /
Families
for CCDC147 gene

Function
for CCDC147 gene

Pathways & Interactions
for CCDC147 gene

Drugs & Compounds
for CCDC147 gene

Transcripts
for CCDC147 gene

Expression
for CCDC147 gene

Orthologs
for CCDC147 gene

Paralogs
for CCDC147 gene

Genomic Variants
for CCDC147 gene

Disorders / Diseases
for CCDC147 gene

Publications
for CCDC147 gene

Intellectual Property
for CCDC147 gene

Products
for CCDC147 gene