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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC113 Gene

protein-coding GIFtS: 41
GCID: GC16P058283

coiled-coil domain containing 113

Search for CCDC113
in

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 113¹ ²
DKFZp434N1418¹
HSPC065¹
Coiled-Coil Domain-Containing Protein 113²

External Ids:	HGNC: 25002¹	Entrez Gene: 29070²	Ensembl: ENSG00000103021⁷	UniProtKB: Q9H0I3³

Export aliases for CCDC113 gene to outside databases

Previous GC identifers: GC16P056842 GC16P044152

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

Gene Wiki entry for CCDC113

(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_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC113 gene promoter:
ATF-2 FOXD1 LCR-F1 C/EBPalpha Max AREB6 CBF-A CBF(2) c-Myc Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC113 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC113

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC113

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

Entrez Gene cytogenetic band: 16q21 Ensembl cytogenetic band: 16q21 HGNC cytogenetic band: 16q21

CCDC113 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC113 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P058283: view genomic region (about GC identifiers)

Start:	58,265,061 bp from pter	End:	58,317,740 bp from pter
Size:	52,680 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: CC113_HUMAN, Q9H0I3 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 113

Size: 377 amino acids; 44220 Da

Sequence caution: Sequence=AAF29037.1; Type=Frameshift; Positions=187;

Secondary accessions: B2RAQ7 B4DR20 Q9NZX2

Alternative splicing: 2 isoforms: Q9H0I3-1 Q9H0I3-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC113: NX_Q9H0I3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H0I3

CCDC113 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001135774.1 NP_054876.2

ENSEMBL proteins:

ENSP00000455923 ENSP00000402588 ENSP00000219299 ENSP00000454618

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	Uscn Proteins for CCDC113

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0043234	protein complex	IDA	--

CCDC113 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

CCDC113 for domains About GeneDecksing

1 InterPro domain/family:

IPR025254 DUF4201

Graphical View of Domain Structure for InterPro Entry Q9H0I3

ProtoNet protein and cluster: Q9H0I3

(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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(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 CCDC113

4 Interacting proteins for CCDC113 (Q9H0I3³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GIT1	Q9Y2X7³	I2D: score=4
IMMT	Q16891³	I2D: score=4
PFN2	P35080³	I2D: score=4
HAP1	P54257³	I2D: score=3

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 CCDC113
Search CenterWatch for drugs/clinical trials and news about CCDC113 / CC113

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CCDC113 gene (2 alternative transcripts):

NM_001142302.1 NM_014157.3

Unigene Cluster for CCDC113:

Coiled-coil domain containing 113

Hs.11614 [show with all ESTs]

Unigene Representative Sequence: NM_014157

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

ENST00000569374 ENST00000443128(uc010vid.2) ENST00000219299(uc002ene.3)

ENST00000561517 ENST00000566498

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Additional cDNA sequence:

AF161550.1 AK027208.1 AK299066.1 AK314300.1 AL136785.1 BC126445.1 BC126447.1 CR533506.1

5 DOTS entries:

DT.95363861 DT.120687755 DT.92424686 DT.40294956 DT.120687760

24/52 AceView cDNA sequences (see all 52):

NM_014157 BU688096 AW021459 BF438667 AL136785 BM977820 BF594246 AI041361

CB241680 BG054922 CR533506 CB305403 BE311790 AI188004 N44041 AA430189

AI334040 BX438715 AK027208 N34967 AA430275 BU623305 BE876548 CA430651

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

CCDC113 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTGCAATA

About this image

CCDC113 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC113 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC113

SOURCE GeneReport for Unigene cluster: Hs.11614

SABiosciences Custom PCR Arrays for CCDC113

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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 animals.

Orthologs for CCDC113 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CCDC113¹	coiled-coil domain containing 113	57.95(n) 42.53(a)		768642 XM_001231695.1 XP_001231696.1
lizard (Anolis carolinensis)	Reptilia	CCDC113⁶	--	53(a)	1 ↔ 1	AAWZ02039503(758-7037)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.12836²	Transcribed sequence with weak similarity to protein more	75.76(n)		BX733584.1
zebrafish (Danio rerio)	Actinopterygii	BM316613.1²	--	73.15(n)		BM316613.1
fruit fly (Drosophila melanogaster)	Insecta	CG13693⁶	--	17(a)	1 ↔ 1	2L(232487-234208)

ENSEMBL Gene Tree for CCDC113 (if available)
TreeFam Gene Tree for CCDC113 (if available)

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

Paralogs for CCDC113 gene

CCDC96²

CCDC113 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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181468337^1,2		--	58281869(+)	`CCACAC/TCACCA`	2	--	us2k¹		0	--	--	--	--
rs186045209^1,2		--	58281970(+)	`TGGCTG/TCCAAG`	2	--	us2k¹		0	--	--	--	--
rs190164731^1,2		--	58282169(+)	`GCCCAA/GTGCTG`	2	--	us2k¹		0	--	--	--	--
rs11860326^1,2	C,F,H,	--	58282194(+)	`ATTTGC/TAATGG`	2	--	us2k¹		24		NS EA NA WA CSA	2766
rs2731762^1,2	C,H,	--	58282220(-)	`TTAAGT/CAGGAC`	2	--	us2k¹		14		NA WA CSA EA	377
rs149199180^1,2		--	58282342(+)	`GACACA/GTAATT`	2	--	us2k¹		0	--	--	--	--
rs111345706^1,2		--	58282361(+)	`TGGATC/TGTATG`	2	--	us2k¹		1		CSA	2
rs181203658^1,2		--	58282494(+)	`AGCCCA/GGTTGG`	2	--	us2k¹		0	--	--	--	--
rs139210549^1,2		--	58282638(+)	`TATTGC/TTAAAT`	2	--	us2k¹		0	--	--	--	--
rs141252770^1,2		--	58282639(+)	`ATTGCG/TAAATG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC113 (58265061 - 58317740 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CCDC113
1 Indel: 61528

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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

(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 CCDC113 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with CCDC113)

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)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2, 3} Zhang Q.-H.... Chen Z. (2000)
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)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (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: 29070	HGNC: 25002	AceView: HSPC065	Ensembl:ENSG00000103021	euGenes: HUgn29070
ECgene: CCDC113	H-InvDB: CCDC113

(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 CCDC113	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC113 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC113 gene:
Search GeneIP for patents involving CCDC113

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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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 CCDC113 gene at Home site.

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CCDC113 Gene

coiled-coil domain containing 113

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CCDC113 Gene

coiled-coil domain containing 113

Aliasesfor CCDC113 gene

Summariesfor CCDC113 gene

Genomic Viewsfor CCDC113 gene

Proteinsfor CCDC113 gene

Protein Domains /Familiesfor CCDC113 gene

Functionfor CCDC113 gene

Pathways & Interactionsfor CCDC113 gene

Drugs & Compoundsfor CCDC113 gene

Transcriptsfor CCDC113 gene

Expression for CCDC113 gene

Orthologsfor CCDC113 gene

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Genomic Variantsfor CCDC113 gene

Disorders / Diseasesfor CCDC113 gene

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Genome Databases showing CCDC113 gene

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Specialized Databases showing CCDC113 gene

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Aliases
for CCDC113 gene

Summaries
for CCDC113 gene

Genomic Views
for CCDC113 gene

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for CCDC113 gene

Protein Domains /
Families
for CCDC113 gene

Function
for CCDC113 gene

Pathways & Interactions
for CCDC113 gene

Drugs & Compounds
for CCDC113 gene

Transcripts
for CCDC113 gene

Expression
for CCDC113 gene

Orthologs
for CCDC113 gene

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for CCDC113 gene

Genomic Variants
for CCDC113 gene

Disorders / Diseases
for CCDC113 gene

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for CCDC113 gene

Intellectual Property
for CCDC113 gene

Products
for CCDC113 gene