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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC68 Gene

protein-coding GIFtS: 43
GCID: GC18M052568

coiled-coil domain containing 68

Explore 2 diseases affiliated with
CCDC68 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 68¹ ²		Coiled-Coil Domain-Containing Protein 68²
SE57-1¹ ²		CTCL Tumor Antigen Se57-1²
Cutaneous T-Cell Lymphoma-Associated Antigen Se57-1² ³		Cutaneous T-Cell Lymphoma Associated Antigen²
CTCL-Associated Antigen Se57-1² ³

External Ids:	HGNC: 24350¹	Entrez Gene: 80323²	Ensembl: ENSG00000166510⁷	UniProtKB: Q9H2F9³

Export aliases for CCDC68 gene to outside databases

Previous GC identifers: GC18M050720 GC18M049277

(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_025028.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC68 gene promoter:
SRY FOXO4 Chx10 HNF-3beta FOXL1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CCDC68 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC68

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC68

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

Entrez Gene cytogenetic band: 18q21 Ensembl cytogenetic band: 18q21.2 HGNC cytogenetic band: 18q21

CCDC68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC68 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M052568: view genomic region (about GC identifiers)

Start:	52,568,740 bp from pter	End:	52,626,739 bp from pter
Size:	58,000 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,
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About This Section

UniProtKB/Swiss-Prot: CCD68_HUMAN, Q9H2F9 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 68

Size: 335 amino acids; 38869 Da

Secondary accessions: B2R9I3

Explore the universe of human proteins at neXtProt for CCDC68: NX_Q9H2F9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H2F9

CCDC68 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001137301.1 NP_079490.1

ENSEMBL proteins:

ENSP00000466690 ENSP00000466731 ENSP00000337209 ENSP00000413406

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

CCDC68 for domains About GeneDecksing

1 InterPro domain/family:

IPR026735 Ccdc68

Graphical View of Domain Structure for InterPro Entry Q9H2F9

ProtoNet protein and cluster: Q9H2F9

(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 CCDC68:

Increased G2M 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 CCDC68

(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

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(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,
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About This Section

REFSEQ mRNAs for CCDC68 gene (2 alternative transcripts):

NM_001143829.1 NM_025214.2

Unigene Cluster for CCDC68:

Coiled-coil domain containing 68

Hs.120790 [show with all ESTs]

Unigene Representative Sequence: NM_025214

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

ENST00000591504 ENST00000592040 ENST00000337363 ENST00000592294 ENST00000589136

ENST00000587148 ENST00000432185(uc002lfs.3 uc002lft.3)

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Additional cDNA sequence:

AF273051.1 AK058097.1 AK313793.1 BC029508.1

4 DOTS entries:

DT.75154751 DT.95320472 DT.100021087 DT.75175561

24/33 AceView cDNA sequences (see all 33):

BG623949 AI823801 BQ653821 CR592235 BU687639 BC029508 BX357245 BQ651249

AW148635 CD243428 AI800280 NM_025214 BX472364 AK058097 CB989236 AF273051

AW600293 CD238233 BI255031 AI767468 BQ072335 BX357244 BM764394 BX096279

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC68 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12
SP1:					-												-
SP2:
SP3:

ECgene alternative splicing isoforms for CCDC68

(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

CCDC68 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CCDC68 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

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC68 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC68

SOURCE GeneReport for Unigene cluster: Hs.120790

UniProtKB/Swiss-Prot: CCD68_HUMAN, Q9H2F9

Tissue specificity: Expressed in bone marrow, colon, small intestine, spleen, testis, trachea and cutaneous T-cell

lymphoma (CTCL)

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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 chordates.

Orthologs for CCDC68 gene from 1/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CCDC68⁶	--	44(a)	1 ↔ 1	GL343213.1(341003-356324)

ENSEMBL Gene Tree for CCDC68 (if available)
TreeFam Gene Tree for CCDC68 (if available)

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

Paralogs for CCDC68 gene

TUFT1² GCOM1²

1 SIMAP similar gene for CCDC68 using alignment to 2 protein entries: CCD68_HUMAN (see all proteins):

GCOM1

CCDC68 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 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116313783^1,2	C,F,	other	52596113(+)	`CTTTTC/TCTAGG`	4	K E	mis¹		2		NA EU	5797
rs117181372^1,2		--	52568382(+)	`AACAAT/ACAGAT`	2	--	int¹		1		NA	120
rs148548000^1,2		--	52568436(+)	`AGCACA/TTTGGG`	2	--	int¹		0	--	--	--	--
rs55774211^1,2		--	52568539(+)	`TTAGCC/TGGGTG`	2	--	int¹		0	--	--	--	--
rs146685626^1,2		--	52568555(+)	`GCAGTC/TGCCTG`	2	--	int¹		0	--	--	--	--
rs181063907^1,2		--	52568556(+)	`CAGTCA/GCCTGT`	2	--	int¹		0	--	--	--	--
rs140276210^1,2		--	52568639(+)	`GATTGC/TGCCAT`	2	--	int¹		0	--	--	--	--
rs144068499^1,2		--	52568679(+)	`ACTCTA/GTCTCA`	2	--	int¹		0	--	--	--	--
rs111507622^1,2	C,	--	52568715(+)	`AAAAAC/ACACAA`	2	--	int¹		1		WA	2
rs184899444^1,2		--	52568854(+)	`CTATAC/TTAATT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC68 (52568740 - 52626739 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC68: --

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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

CCDC68 for disorders About GeneDecksing

2 diseases for CCDC68: About MalaCards

cutaneous t cell lymphoma colorectal cancer

Export disorders for CCDC68 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 CCDC68 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC68)

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

Tissue expression and sero-reactivity of tumor-specific antigens in colorectal cancer. (PubMed id 15142679)^{1, 2, 3} Gerhardt A....Eichmueller S. (2004)
Serological detection of cutaneous T-cell lymphoma-associated antigens. (PubMed id 11149944)^{1, 2, 3} Eichmueller S....Schadendorf D. (2001)
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)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Genome-wide association study identifies five new schi zophrenia loci. (PubMed id 21926974)¹ (2011)
Genome-wide meta-analysis for severe diabetic retinop athy. (PubMed id 21441570)¹ Grassi M.A....Nicolae D.L. (2011)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
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: 80323	HGNC: 24350	AceView: SE57-1	Ensembl:ENSG00000166510	euGenes: HUgn80323
ECgene: CCDC68	H-InvDB: CCDC68

(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 CCDC68	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC68 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC68 gene:
Search GeneIP for patents involving CCDC68

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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	CCDC68 lysates

	Antibodies for CCDC68
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CCDC68 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CCDC68

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC68

	SwitchGear 3'UTR luciferase reporter plasmids for CCDC68
	SwitchGear Promoter luciferase reporter plasmids for CCDC68

ThermoFisher Antibodies for CCDC68

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC68

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
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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

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

Hot genes Disease genes CCDC68 gene at Home site.

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CCDC68 Gene

coiled-coil domain containing 68

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CCDC68 Gene

coiled-coil domain containing 68

Aliasesfor CCDC68 gene

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Genomic Viewsfor CCDC68 gene

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Protein Domains /Familiesfor CCDC68 gene

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for CCDC68 gene

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for CCDC68 gene

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for CCDC68 gene

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for CCDC68 gene

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Families
for CCDC68 gene

Function
for CCDC68 gene

Pathways & Interactions
for CCDC68 gene

Drugs & Compounds
for CCDC68 gene

Transcripts
for CCDC68 gene

Expression
for CCDC68 gene

Orthologs
for CCDC68 gene

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for CCDC68 gene

Genomic Variants
for CCDC68 gene

Disorders / Diseases
for CCDC68 gene

Publications
for CCDC68 gene

Intellectual Property
for CCDC68 gene

Products
for CCDC68 gene