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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC18 Gene

protein-coding GIFtS: 40
GCID: GC01P093645

coiled-coil domain containing 18

Explore 2 diseases affiliated with
CCDC18 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 18¹ ²
NY-SAR-41¹ ²
Sarcoma Antigen NY-SAR-24² ³
Coiled-Coil Domain-Containing Protein 18²
DJ717I23.1¹
Sarcoma Antigen NY-SAR-41²

External Ids:	HGNC: 30370¹	Entrez Gene: 343099²	Ensembl: ENSG00000122483⁷	UniProtKB: Q5T9S5³

Export aliases for CCDC18 gene to outside databases

Previous GC identifers: GC01P093359 GC01P093418 GC01P091767

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC18 gene promoter:
STAT1 RFX1 IRF-1 CREB MEF-2A HSF2 deltaCREB c-Myb aMEF-2 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC18 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC18

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC18

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

Entrez Gene cytogenetic band: 1p22.1 Ensembl cytogenetic band: 1p22.1 HGNC cytogenetic band: 1p22.1

CCDC18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC18 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P093645: view genomic region (about GC identifiers)

Start:	93,645,476 bp from pter	End:	93,744,287 bp from pter
Size:	98,812 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: CCD18_HUMAN, Q5T9S5 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 18

Size: 1454 amino acids; 168962 Da

Sequence caution: Sequence=BAC86410.1; Type=Erroneous initiation;

Secondary accessions: Q6ZU17

Alternative splicing: 2 isoforms: Q5T9S5-1 Q5T9S5-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC18: NX_Q5T9S5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T9S5

CCDC18 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_996769.3

ENSEMBL proteins:

ENSP00000343377 ENSP00000383808 ENSP00000394234 ENSP00000359299 ENSP00000434031

ENSP00000431409 ENSP00000391151 ENSP00000451099 ENSP00000344380 ENSP00000334084

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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: Q5T9S5

(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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1 GenomeRNAi human phenotype for CCDC18:

Increased G1 DNA content

(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 CCDC18

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CCDC18 (ENSP00000334084⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DMRT2	ENSP00000305785⁴	STRING: ENSP00000305785

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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CCDC18
Search CenterWatch for drugs/clinical trials and news about CCDC18 / CCD18

(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 CCDC18 gene:

NM_206886.3

Unigene Cluster for CCDC18:

Coiled-coil domain containing 18

Hs.310637 [show with all ESTs]

Unigene Representative Sequence: NM_206886

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

ENST00000343253 ENST00000528942 ENST00000401026 ENST00000448243 ENST00000370276(uc021opx.1)

ENST00000479653 ENST00000481180 ENST00000455267 ENST00000421014 ENST00000447456

ENST00000557479 ENST00000338949(uc009wdl.1 uc001dpr.1) ENST00000334652

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Additional cDNA sequence:

AK126045.1 AY211914.1 AY211918.1 BC056667.1 BX538286.1

17 DOTS entries:

DT.91799019 DT.206724 DT.421664 DT.40130613 DT.447532 DT.40295207 DT.91737464 DT.65285982

DT.95330171 DT.121451574 DT.121451660 DT.40195864 DT.121451571 DT.318088 DT.91737461 DT.91905951

DT.95305076

24/51 AceView cDNA sequences (see all 51):

BX099893 AA287273 AA983879 AI961146 BX280850 CR621549 AI992332 AA810219

AW445003 AW627636 AA912505 BE551576 AI337126 BF056459 BX477154 AK126045

BC056667 AW502328 BI855630 AI540716 AL564361 BG170717 AW630921 AA682308

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

CCDC18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See CCDC18 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC18

SOURCE GeneReport for Unigene cluster: Hs.310637

SABiosciences Custom PCR Arrays for CCDC18

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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 last universal common ancestor (LUCA).

Orthologs for CCDC18 gene from 8/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CCDC18¹	coiled-coil domain containing 18	65.23(n) 55.3(a)		424497 NM_001252034.1 NP_001238963.1
lizard (Anolis carolinensis)	Reptilia	CCDC18⁶	--	47(a)	1 ↔ 1	4(88226554-88253112)
African clawed frog (Xenopus laevis)	Amphibia	sojo-A²	alpha helical protein p170	72.37(n)		AF166261.2
zebrafish (Danio rerio)	Actinopterygii	si:dkeyp-1a11.3¹	si:dkeyp-1a11.3	45.38(n) 31.99(a)		564276 XM_687620.5 XP_692712.4
worm (Caenorhabditis elegans)	Secernentea	T07C4.10⁶	--	9(a)	1 ↔ 1	III(10320965-10325561)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G32190⁶	Myosin heavy chain-related protein	12(a)	1 → many	4(15544878-15547855)
rice (Oryza sativa)	Liliopsida	--	expressed protein	11(a)	1 → many	2(4802877-4806456)
E. coli (Escherichia coli)	Gamma proteobacteria	sbcC⁶	exonuclease, dsDNA, ATP-dependent	8(a)	1 → many	Chromosome(411831-414977)

ENSEMBL Gene Tree for CCDC18 (if available)
TreeFam Gene Tree for CCDC18 (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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs36092207^1,2	C,	--	93648289(+)	`TGGTT-/GGTGAC`	1	--	int¹		0	--	--	--	--
rs66527985^1,2	C	--	93648290(-)	`AGTCAC/-CAACC`	1	--	int¹		1		NA	2
rs146266528^1,2		--	93648394(+)	`AATGTA/GATGAT`	1	--	int¹		0	--	--	--	--
rs67768103^1,2	C,	--	93648525(+)	`TCCTAA/GTGACT`	1	--	int¹		4		WA CSA NA	241
rs140044150^1,2		--	93648558(+)	`CATTTA/GCAGTT`	1	--	int¹		0	--	--	--	--
rs186316908^1,2		--	93648648(+)	`GAAGAC/TCAGGT`	1	--	int¹		0	--	--	--	--
rs149773852^1,2		--	93648666(+)	`CAAAAC/GAGAAC`	1	--	int¹		0	--	--	--	--
rs191572790^1,2		--	93648703(+)	`GAAAAA/CTTCAT`	1	--	int¹		0	--	--	--	--
rs7535628^1,2	C,F,A,H,	--	93648728(+)	`TTGAAC/TTCCTT`	1	--	int¹		25		NA NS EA WA CSA	2476
rs75081640^1,2	C,F,	--	93648810(+)	`TCACAA/GCNNNN`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for CCDC18 (93645476 - 93744287 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC18: --
Human Gene Mutation Database (HGMD): CCDC18

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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

CCDC18 for disorders About GeneDecksing

2 diseases for CCDC18: About MalaCards

sarcoma malaria

Export disorders for CCDC18 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 CCDC18 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC18)

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

Immunomic analysis of human sarcoma. (PubMed id 12601173)^{1, 3} Lee S.-Y.... Scanlan M.J. (2003)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)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 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: 343099	HGNC: 30370	AceView: NY-SAR-41	Ensembl:ENSG00000122483	euGenes: HUgn343099
ECgene: CCDC18	H-InvDB: CCDC18

(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 CCDC18	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CCDC18	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CCDC18 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC18 gene:
Search GeneIP for patents involving CCDC18

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
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About This Section


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CCDC18 Proteins, Antibodies, CLIAs, and ELISAs

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC18

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC18

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 CCDC18 gene at Home site.

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CCDC18 Gene

coiled-coil domain containing 18

Aliases
for CCDC18 gene

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for CCDC18 gene

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for CCDC18 gene

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for CCDC18 gene

Protein Domains /
Families
for CCDC18 gene

Function
for CCDC18 gene

Pathways & Interactions
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for CCDC18 gene

Transcripts
for CCDC18 gene

Expression
for CCDC18 gene

Orthologs
for CCDC18 gene

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for CCDC18 gene

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for CCDC18 gene

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for CCDC18 gene

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for CCDC18 gene

External Searches for CCDC18 gene

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for CCDC18 gene

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Export list of displayed genes

CCDC18 Gene

coiled-coil domain containing 18

Aliasesfor CCDC18 gene

Summariesfor CCDC18 gene

Genomic Viewsfor CCDC18 gene

Proteinsfor CCDC18 gene

Protein Domains /Familiesfor CCDC18 gene

Functionfor CCDC18 gene

Pathways & Interactionsfor CCDC18 gene

Drugs & Compoundsfor CCDC18 gene

Transcriptsfor CCDC18 gene

Expression for CCDC18 gene

Orthologsfor CCDC18 gene

Paralogsfor CCDC18 gene

Genomic Variantsfor CCDC18 gene

Disorders / Diseasesfor CCDC18 gene

Publicationsfor CCDC18 gene

External Searches for CCDC18 gene

Genome Databases showing CCDC18 gene

Other Databases showing CCDC18 gene

Specialized Databases showing CCDC18 gene

Intellectual Propertyfor CCDC18 gene

Productsfor CCDC18 gene

View Random Gene

Aliases
for CCDC18 gene

Summaries
for CCDC18 gene

Genomic Views
for CCDC18 gene

Proteins
for CCDC18 gene

Protein Domains /
Families
for CCDC18 gene

Function
for CCDC18 gene

Pathways & Interactions
for CCDC18 gene

Drugs & Compounds
for CCDC18 gene

Transcripts
for CCDC18 gene

Expression
for CCDC18 gene

Orthologs
for CCDC18 gene

Paralogs
for CCDC18 gene

Genomic Variants
for CCDC18 gene

Disorders / Diseases
for CCDC18 gene

Publications
for CCDC18 gene

Intellectual Property
for CCDC18 gene

Products
for CCDC18 gene