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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC108 Gene

protein-coding GIFtS: 43
GCID: GC02M219869

coiled-coil domain containing 108

Explore 1 disease affiliated with
CCDC108 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 108¹ ²
DKFZp434O0527¹
MGC35338¹
Coiled-Coil Domain-Containing Protein 108²

External Ids:	HGNC: 25325¹	Entrez Gene: 255101²	Ensembl: ENSG00000181378⁷	OMIM: 614270⁵	UniProtKB: Q6ZU64³

Export aliases for CCDC108 gene to outside databases

Previous GC identifers: GC02M219575 GC02M211721

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC108 gene promoter:
Pax-5 Pax-6 XBP-1 CUTL1 MZF-1 CBF-B CBF-A CP1A Pax-4a CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC108 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC108

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC108

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

Entrez Gene cytogenetic band: 2q35 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q35

CCDC108 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC108 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M219869: view genomic region (about GC identifiers)

Start:	219,867,568 bp from pter	End:	219,906,249 bp from pter
Size:	38,682 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: CC108_HUMAN, Q6ZU64 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 108

Size: 1925 amino acids; 217250 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Sequence caution: Sequence=AAH31585.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAC86362.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC86878.1;

Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;

Secondary accessions: A2BDD8 E9PCR1 Q6ZSR8 Q8N0T4 Q8NDJ3

Alternative splicing: 2 isoforms: Q6ZU64-1 Q6ZU64-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC108: NX_Q6ZU64

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6ZU64

CCDC108 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_689602.2 NP_919278.2

ENSEMBL proteins:

ENSP00000340776 ENSP00000394019 ENSP00000386945 ENSP00000386258 ENSP00000393483

ENSP00000396836 ENSP00000295729 ENSP00000413746 ENSP00000413377 ENSP00000409117

ENSP00000313807

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	Uscn Proteins for CCDC108

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:0016021	integral to membrane	IEA	--

CCDC108 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

CCDC108 for domains About GeneDecksing

2 InterPro domains/families:

IPR008962 PapD-like

IPR000535 Major_sperm

Graphical View of Domain Structure for InterPro Entry Q6ZU64

ProtoNet protein and cluster: Q6ZU64

1 Blocks protein family: IPB000535 Major sperm protein (MSP) domain

UniProtKB/Swiss-Prot: CC108_HUMAN, Q6ZU64

Similarity: Contains 1 MSP domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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:0005198	structural molecule activity	IEA	--

CCDC108 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CCDC108:

Increased circadian rhythm amp

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CCDC108

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In Situ Assay
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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 CCDC108

(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 CCDC108
Search CenterWatch for drugs/clinical trials and news about CCDC108 / CC108

(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 CCDC108 gene (2 alternative transcripts):

NM_152389.2 NM_194302.2

Unigene Cluster for CCDC108:

Coiled-coil domain containing 108

Hs.147762 [show with all ESTs]

Unigene Representative Sequence: NM_194302

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

ENST00000341552(uc002vjl.1) ENST00000413871(uc002vjm.3) ENST00000462848(uc010fwa.1 uc010zkp.1 uc010zkq.1)

ENST00000474601 ENST00000463683 ENST00000409865 ENST00000410037 ENST00000457968

ENST00000436631 ENST00000295729(uc002vjn.3) ENST00000458526 ENST00000441968

ENST00000453220 ENST00000324264

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Additional cDNA sequence:

AK092605.1 AK123235.1 AK125957.1 AK127189.1 AK302678.1 AK302688.1 AL833882.1 BC031585.1

BC039688.1 BC047637.1 BC130281.1 BX649039.1 NR_046086.1

10 DOTS entries:

DT.97826370 DT.100016071 DT.99999940 DT.99927319 DT.101983473 DT.99933537 DT.120940088 DT.120940097

DT.70104165 DT.75179672

24/44 AceView cDNA sequences (see all 44):

BX102983 AL833882 BU608857 CB852840 CA503105 AK123235 AI791496 BC039688

NM_194302 BC047637 BP357499 AK125957 AW087742 AK127189 NM_152389 CA450074

BC031585 BM979557 BI461596 BX112480 AI214814 AL048936 AI791328 AI798905

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

CCDC108 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGCTAGGGG

About this image

CCDC108 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 CCDC108 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC108

SOURCE GeneReport for Unigene cluster: Hs.147762

SABiosciences Custom PCR Arrays for CCDC108

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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 chordates.

Orthologs for CCDC108 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc108^{1 , 5}	coiled-coil domain containing 108^{1, 5}	78.56(n)¹ 73.43(a)¹		1 (38.54 cM)⁵ 241116¹ NM_001039495.1¹ NP_001034584.1¹ 74902071⁵
chicken (Gallus gallus)	Aves	CCDC108¹	coiled-coil domain containing 108	58.55(n) 48.82(a)		424206 XM_422054.3 XP_422054.3
lizard (Anolis carolinensis)	Reptilia	CCDC108⁶	--	48(a)	1 ↔ 1	1(87893835-87926951)
zebrafish (Danio rerio)	Actinopterygii	ccdc108¹	coiled-coil domain containing 108	50.13(n) 38.67(a)		100333283 XM_002663322.1 XP_002663368.1

ENSEMBL Gene Tree for CCDC108 (if available)
TreeFam Gene Tree for CCDC108 (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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs114018358^1,2		--	219867185(+)	`GAGCTC/TGGCAA`	3	--	int¹ us2k¹		1		WA	118
rs73089089^1,2	C	--	219867227(+)	`CCTCCG/AAGCAG`	3	--	us2k¹ int¹		1		WA	2
rs35674226^1,2	C	--	219867242(+)	`GGCGCC/GGAAAG`	3	--	us2k¹ int¹		2		NA	4
rs187041576^1,2		--	219867382(+)	`GACCCG/TGTCCA`	3	--	int¹ us2k¹		0	--	--	--	--
rs148565015^1,2		--	219867410(+)	`GCCAGG/TTCTCA`	3	--	us2k¹ int¹		0	--	--	--	--
rs191896276^1,2		--	219867416(+)	`TCTCAA/GTCCAG`	3	--	us2k¹ int¹		0	--	--	--	--
rs183707706^1,2		--	219867452(+)	`CCTCCC/TGGGCC`	3	--	int¹ us2k¹		0	--	--	--	--
rs188476204^1,2		--	219867515(+)	`TCCCTC/GTCAGA`	3	--	us2k¹ int¹		0	--	--	--	--
rs3178492^1,2	C,H	--	219867589(-)	`GTAAAA/CGCATC`	3	--	us2k¹ int¹ ut3¹ ese³		5		NS EA NA	420
rs139816436^1,2	C	--	219867604(+)	`NNNNGA/GGAGGG`	3	--	ut3¹ int¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC108 (219867568 - 219906249 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC108: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC108

DNA2.0 Custom Variant and Variant Library Synthesis for CCDC108

(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

CCDC108 for disorders           About GeneDecksing

OMIM gene information: 614270    OMIM disorders: --

1 disease for CCDC108:    About MalaCards

schizophrenia

Export disorders for CCDC108 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 CCDC108 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC108)

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

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)
Exome sequencing supports a de novo mutational paradi gm for schizophrenia. (PubMed id 21822266)¹ Xu B....Karayiorgou M. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)

(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: 255101	HGNC: 25325	AceView: MGC35338andDKFZp434O0527	Ensembl:ENSG00000181378	euGenes: HUgn255101
ECgene: CCDC108	H-InvDB: CCDC108

(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 CCDC108	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC108 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC108 gene:
Search GeneIP for patents involving CCDC108

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section


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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 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 CCDC108 gene at Home site.

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CCDC108 Gene

coiled-coil domain containing 108

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CCDC108 Gene

coiled-coil domain containing 108

Aliasesfor CCDC108 gene

Summariesfor CCDC108 gene

Genomic Viewsfor CCDC108 gene

Proteinsfor CCDC108 gene

Protein Domains /Familiesfor CCDC108 gene

Functionfor CCDC108 gene

Pathways & Interactionsfor CCDC108 gene

Drugs & Compoundsfor CCDC108 gene

Transcriptsfor CCDC108 gene

Expression for CCDC108 gene

Orthologsfor CCDC108 gene

Paralogsfor CCDC108 gene

Genomic Variantsfor CCDC108 gene

Disorders / Diseasesfor CCDC108 gene

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Genome Databases showing CCDC108 gene

Other Databases showing CCDC108 gene

Specialized Databases showing CCDC108 gene

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Aliases
for CCDC108 gene

Summaries
for CCDC108 gene

Genomic Views
for CCDC108 gene

Proteins
for CCDC108 gene

Protein Domains /
Families
for CCDC108 gene

Function
for CCDC108 gene

Pathways & Interactions
for CCDC108 gene

Drugs & Compounds
for CCDC108 gene

Transcripts
for CCDC108 gene

Expression
for CCDC108 gene

Orthologs
for CCDC108 gene

Paralogs
for CCDC108 gene

Genomic Variants
for CCDC108 gene

Disorders / Diseases
for CCDC108 gene

Publications
for CCDC108 gene

Intellectual Property
for CCDC108 gene

Products
for CCDC108 gene