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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC11 Gene

protein-coding GIFtS: 48
GCID: GC18M047753

coiled-coil domain containing 11

Explore 1 disease affiliated with
CCDC11 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 11¹ ²
FLJ32743¹
HTX6²
Coiled-Coil Domain-Containing Protein 11²

External Ids:	HGNC: 26530¹	Entrez Gene: 220136²	Ensembl: ENSG00000172361⁷	OMIM: 614759⁵	UniProtKB: Q96M91³

Export aliases for CCDC11 gene to outside databases

Previous GC identifers: GC18M046008 GC18M044607

(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_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC11 gene promoter:
p53 IRF-7A Nkx2-5 NF-kappaB1 NF-kappaB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC11 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC11

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC11

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

Entrez Gene cytogenetic band: 18q21.1 Ensembl cytogenetic band: 18q21.1 HGNC cytogenetic band: 18q21.1

CCDC11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC11 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M047753: view genomic region (about GC identifiers)

Start:	47,753,563 bp from pter	End:	47,792,892 bp from pter
Size:	39,330 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: CCD11_HUMAN, Q96M91 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 11

Size: 514 amino acids; 61835 Da

Sequence caution: Sequence=BAB71418.1; Type=Erroneous initiation;

Secondary accessions: B4DXT1

Explore the universe of human proteins at neXtProt for CCDC11: NX_Q96M91

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96M91

CCDC11 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_659457.2

ENSEMBL proteins:

ENSP00000381553

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	Uscn Proteins for CCDC11

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:0005575	cellular_component	ND	--

CCDC11 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

CCDC11 for domains About GeneDecksing

1 InterPro domain/family:

IPR026773 TCHP/CCDC11

Graphical View of Domain Structure for InterPro Entry Q96M91

ProtoNet protein and cluster: Q96M91

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

CCDC11 for ontologies About GeneDecksing

(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 CCDC11

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

2 Interacting proteins for CCDC11 (Q96M91^{2, 3} ENSP00000381553⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCDC85B	Q15834²^,³, ENSP00000311695⁴	MINT-66265 I2D: score=4 STRING: ENSP00000311695
TEX11	Q8IYF3²^,³, ENSP00000340995⁴	MINT-66836 I2D: score=4 STRING: ENSP00000340995

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:0008150	biological_process	ND	--

CCDC11 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

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Browse Tocris compounds for CCDC11
Search CenterWatch for drugs/clinical trials and news about CCDC11 / CCD11

(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 CCDC11 gene:

NM_145020.3

Unigene Cluster for CCDC11:

Coiled-coil domain containing 11

Hs.658630 [show with all ESTs]

Unigene Representative Sequence: AK302114

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

ENST00000398545(uc002lee.2)

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Additional cDNA sequence:

AK057305.1 AK302114.1 BC030606.2

3 DOTS entries:

DT.91938798 DT.435989 DT.65284095

6 AceView cDNA sequences:

BU677534 AW771718 AW242086 BM979490 BU680428 CA433784

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

CCDC11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCAGTAAG

About this image

CCDC11 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

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC11 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC11

SOURCE GeneReport for Unigene cluster: Hs.658630

UniProtKB/Swiss-Prot: CCD11_HUMAN, Q96M91

Tissue specificity: Expressed in skin fibroblasts (at protein level)

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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 CCDC11 gene from 3/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CCDC11⁶	--	35(a)	1 ↔ 1	GL343471.1(197463-219214)
zebrafish (Danio rerio)	Actinopterygii	ccdc11¹	coiled-coil domain containing 11	46.53(n) 32.12(a)		567344 NM_001045130.2 NP_001038595.2
fruit fly (Drosophila melanogaster)	Insecta	CG11449⁶	--	7(a)	1 → many	3L(22447473-22449089)

ENSEMBL Gene Tree for CCDC11 (if available)
TreeFam Gene Tree for CCDC11 (if available)

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

Paralogs for CCDC11 gene

MNS1² CCDC173² CCDC19² TCHP²

CCDC11 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for CCDC11
PGOHUM00000247143 PGOHUM00000235196

(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 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs147856123^1,2	C,	--	47753080(+)	`CTTAG-/ATATAAT`	1	--	int¹		0	--	--	--	--
rs79656180^1,2		--	47753152(+)	`AGAGGC/TCTTTT`	1	--	int¹		2		CSA WA	120
rs11663952^1,2	C,F,H	--	47753295(+)	`tcttaG/Agatct`	1	--	int¹		5		NS EA NA	426
rs78820461^1,2		--	47753340(+)	`CATTTC/GTTTAA`	1	--	int¹		3		CSA EA	123
rs139124077^1,2		--	47753376(+)	`TGGCT-/GGTTAA`	1	--	int¹		0	--	--	--	--
rs187641557^1,2		--	47753454(+)	`AGGAAG/TAAGAA`	1	--	int¹		0	--	--	--	--
rs116540743^1,2	F,	--	47753462(+)	`GAAACG/AGGCAT`	1	--	int¹		1		WA	118
rs894770^1,2	C,F,O,A,H,	--	47753469(+)	`GCATAT/CGGGTA`	1	--	int¹		31		MN NS EA NA WA CSA	2879
rs894771^1,2	C,F,O,A,H,	--	47753491(+)	`NNNNAT/CGGAGC`	1	--	int¹		33		NS EA NA WA CSA	3412
rs143541475^1,2		--	47753559(+)	`AGTAGA/TTCATT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC11 (47753563 - 47792892 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC11: --
Human Gene Mutation Database (HGMD): CCDC11

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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

CCDC11 for disorders About GeneDecksing

OMIM gene information: 614759 OMIM disorders: --

UniProtKB/Swiss-Prot: CCD11_HUMAN, Q96M91

Defects in CCDC11 are the cause of heterotaxy, visceral, type 6, autosomal (HTX6) [MIM:614779]. A form of

visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal

organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. HTX6

clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced

atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch,

abnormal systemic venous return and total anomalous pulmonary venous drainage

1 disease for CCDC11: About MalaCards

situs inversus

1 disease from the University of Copenhagen DISEASES database for CCDC11:

Situs inversus

Human Genome Epidemiology (HuGE) Navigator: CCDC11 (1 document)

Export disorders for CCDC11 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 CCDC11 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC11)

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

A human laterality disorder associated with recessive CCDC11 mutation. (PubMed id 22577226)^{1, 2} Perles Z....Elpeleg O. (2012)
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)
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. (2002)
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)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)

(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: 220136	HGNC: 26530	AceView: FLJ32743.1	Ensembl:ENSG00000172361	euGenes: HUgn220136
ECgene: CCDC11	H-InvDB: CCDC11

(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 CCDC11	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC11 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC11 gene:
Search GeneIP for patents involving CCDC11

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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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 CCDC11 gene at Home site.

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CCDC11 Gene

coiled-coil domain containing 11

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CCDC11 Gene

coiled-coil domain containing 11

Aliasesfor CCDC11 gene

Summariesfor CCDC11 gene

Genomic Viewsfor CCDC11 gene

Proteinsfor CCDC11 gene

Protein Domains /Familiesfor CCDC11 gene

Functionfor CCDC11 gene

Pathways & Interactionsfor CCDC11 gene

Drugs & Compoundsfor CCDC11 gene

Transcriptsfor CCDC11 gene

Expression for CCDC11 gene

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Specialized Databases showing CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

Protein Domains /
Families
for CCDC11 gene

Function
for CCDC11 gene

Pathways & Interactions
for CCDC11 gene

Drugs & Compounds
for CCDC11 gene

Transcripts
for CCDC11 gene

Expression
for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

Disorders / Diseases
for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene

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for CCDC11 gene