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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC8 Gene

protein-coding GIFtS: 47
GCID: GC19M046914

coiled-coil domain containing 8

Explore 2 diseases affiliated with
CCDC8 via

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 8¹ ²		Coiled-Coil Domain-Containing Protein 8²
3M3¹ ²		P90¹
PPP1R20¹ ²		Protein Phosphatase 1, Regulatory Subunit 20²
DKFZp564K0322¹

External Ids:	HGNC: 25367¹	Entrez Gene: 83987²	Ensembl: ENSG00000169515⁷	OMIM: 614145⁵	UniProtKB: Q9H0W5³

Export aliases for CCDC8 gene to outside databases

Previous GC identifers: GC00U914333 GC19M051606 GC19M051607 GC19M043345

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

Entrez Gene summary for CCDC8:

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for

p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the

cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). (provided by

RefSeq, Dec 2011)

Gene Wiki entry for CCDC8

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC8 gene promoter:
NRSF form 1 Nkx2-5 NRSF form 2 AP-2gamma Ik-2 HSF2 AP-2beta AP-2alpha Hlf AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC8 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC8

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

Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.33

CCDC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC8 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M046914: view genomic region (about GC identifiers)

Start:	46,913,586 bp from pter	End:	46,916,919 bp from pter
Size:	3,334 bases	Orientation:	minus 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: CCDC8_HUMAN, Q9H0W5 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 8

Size: 538 amino acids; 59374 Da

Subunit: Interacts with OBSL1

Secondary accessions: Q8TB26

Explore the universe of human proteins at neXtProt for CCDC8: NX_Q9H0W5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H0W5

CCDC8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_114429.2

ENSEMBL proteins:

ENSP00000303158

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	Uscn Proteins for CCDC8

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IDA	--

CCDC8 for ontologies About GeneDecksing

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

CCDC8 for domains About GeneDecksing

2 InterPro domains/families:

IPR026523 PNMA

IPR026526 Coiled-coil_p8

Graphical View of Domain Structure for InterPro Entry Q9H0W5

ProtoNet protein and cluster: Q9H0W5

(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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In Situ Assay
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1 GenomeRNAi human phenotype for CCDC8:

Increased number of cells in m

(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 CCDC8

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/52 Interacting proteins for CCDC8 (Q9H0W5² ENSP00000303158⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FBXW8	Q8N3Y1², ENSP00000310686⁴	MINT-8415355 STRING: ENSP00000310686
TP53	P04637², ENSP00000269305⁴	MINT-8415355 STRING: ENSP00000269305
BAG2	O95816²	MINT-8415355
BAG6	P46379²	MINT-8415355
CCT2	P78371²	MINT-8415355

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010923	negative regulation of phosphatase activity	IDA	19389623

CCDC8 for ontologies About GeneDecksing

(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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CCDC8
Search CenterWatch for drugs/clinical trials and news about CCDC8

(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,
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About This Section

REFSEQ mRNAs for CCDC8 gene:

NM_032040.4

Unigene Cluster for CCDC8:

Coiled-coil domain containing 8

Hs.97876 [show with all ESTs]

Unigene Representative Sequence: NM_032040

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000307522(uc002pep.3)

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Additional cDNA sequence:

AK297668.1 AL136609.1 BC015648.2 BC025243.1 JN703457.1

3 DOTS entries:

DT.103092 DT.92420913 DT.100674192

24/73 AceView cDNA sequences (see all 73):

BX096201 AA639998 AW572293 BF437168 AI678256 AI910716 AI888642 BC025243

AI867969 AI682276 BC015648 AA446559 BX380957 BF477713 AA459285 BU844431

AA402930 AW589945 AI970823 NM_032040 BX437032 BU680733 AA459514 BI523644

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

CCDC8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCGGGCTC

About this image

CCDC8 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC8

SOURCE GeneReport for Unigene cluster: Hs.97876

UniProtKB/Swiss-Prot: CCDC8_HUMAN, Q9H0W5

Tissue specificity: Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver

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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)
About This Section

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

Orthologs for CCDC8 gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc8^{1 , 5}	coiled-coil domain containing 8^{1, 5}	68.62(n)¹ 58.6(a)¹		7 (9.15 cM)⁵ 434130¹ NM_001101535.1¹ NP_001095005.1¹ 16992708⁵

ENSEMBL Gene Tree for CCDC8 (if available)
TreeFam Gene Tree for CCDC8 (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, 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79460010^1,2	C,	--	46913109(+)	`AAAAG-/AAAAAA`	1	--	ds500¹		1		CSA	2
rs200833806^1,2	C	--	46913154(+)	`AGCCTC/TTTTTT`	1	--	ds500¹		0	--	--	--	--
rs12983067^1,2	C,	--	46913200(+)	`TCACTC/GTGTCA`	1	--	ds500¹		6		NA WA CSA	12
rs187166791^1,2		--	46913366(+)	`CACCAC/TGTTGG`	1	--	ds500¹		0	--	--	--	--
rs192820421^1,2		--	46913370(+)	`ACGTTA/GGCCAG`	1	--	ds500¹		0	--	--	--	--
rs185250446^1,2		--	46913395(+)	`CTTGAC/TCTCGT`	1	--	ds500¹		0	--	--	--	--
rs73942421^1,2	C,	--	46913532(+)	`GTTGCG/CCAGAT`	1	--	ds500¹		1		WA	2
rs190101565^1,2		--	46913584(+)	`GCACCA/GCTAGC`	1	--	ds500¹		0	--	--	--	--
rs10412551^1,2	C,F,A,H,	--	46913749(+)	`CAAGCG/AAAGTG`	1	--	ut3¹		20		NS EA NA WA CSA	2343
rs138105942^1,2		--	46913811(+)	`GCAAGA/GGCCAG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC8 (46913586 - 46916919 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC8: --
Human Gene Mutation Database (HGMD): CCDC8

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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

CCDC8 for disorders About GeneDecksing

OMIM gene information: 614145 OMIM disorders: --

UniProtKB/Swiss-Prot: CCDC8_HUMAN, Q9H0W5

Defects in CCDC8 are the cause of 3M syndrome type 3 (3M3) [MIM:614205]. A disorder characterized by poor

postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose,

and fleshy lips. Other features may include skeletal anomalies and prominent heels

2 diseases for CCDC8: About MalaCards

3-m syndrome thyroiditis

Export disorders for CCDC8 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 CCDC8 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with CCDC8)

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

Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2, 3} Wiemann S.... Poustka A. (2001)
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PubMed id 21737058)^{1, 2} Hanson D.... Black G.C. (2011)
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)
An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechani sm regulates Golgi morphology and dendrite patterning. (PubMed id 21572988)¹ Litterman N....Bonni A. (2011)
The genetics of 3-m syndrome: unravelling a potential new regulatory growth pathway. (PubMed id 22156540)¹ Hanson D....Clayton P.E. (2011)
Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90. (PubMed id 22084066)¹ Dai C.... Gu W. (2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)¹ Hendrickx A.... Bollen M. (2009)
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: 83987	HGNC: 25367	AceView: CCDC8	Ensembl:ENSG00000169515	euGenes: HUgn83987
ECgene: CCDC8	H-InvDB: CCDC8

(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 CCDC8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC8 gene:
Search GeneIP for patents involving CCDC8

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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC8
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC8
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	GenScript Custom Purified and Recombinant Proteins Services for CCDC8		GenScript cDNA clones with any tag delivered in your preferred vector for CCDC8
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ThermoFisher Antibodies for CCDC8

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC8

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 CCDC8 gene at Home site.

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CCDC8 Gene

coiled-coil domain containing 8

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CCDC8 Gene

coiled-coil domain containing 8

Aliasesfor CCDC8 gene

Summariesfor CCDC8 gene

Genomic Viewsfor CCDC8 gene

Proteinsfor CCDC8 gene

Protein Domains /Familiesfor CCDC8 gene

Functionfor CCDC8 gene

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for CCDC8 gene

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for CCDC8 gene

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for CCDC8 gene

Function
for CCDC8 gene

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for CCDC8 gene

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for CCDC8 gene

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for CCDC8 gene

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