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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC82 Gene

protein-coding GIFtS: 41
GCID: GC11M096085

coiled-coil domain containing 82

Search for CCDC82
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 82¹ ²
FLJ23518¹
HSPC048²
Coiled-Coil Domain-Containing Protein 82²

External Ids:	HGNC: 26282¹	Entrez Gene: 79780²	Ensembl: ENSG00000149231⁷	UniProtKB: Q8N4S0³

Export aliases for CCDC82 gene to outside databases

Previous GC identifers: GC11M095726 GC11M092152

(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_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC82 gene promoter:
POU2F2 (Oct-2.1) oct-B2 oct-B3 AML1a POU2F2 RORalpha1 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC82 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC82

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC82

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

Entrez Gene cytogenetic band: 11q21 Ensembl cytogenetic band: 11q21 HGNC cytogenetic band: 11q21

CCDC82 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC82 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M096085: view genomic region (about GC identifiers)

Start:	96,085,929 bp from pter	End:	96,123,087 bp from pter
Size:	37,159 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: CCD82_HUMAN, Q8N4S0 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 82

Size: 544 amino acids; 64002 Da

Sequence caution: Sequence=BAB15683.1; Type=Frameshift; Positions=527;

Secondary accessions: B3KPU7 Q8WV71 Q9H2Q5 Q9H5E3

Alternative splicing: 2 isoforms: Q8N4S0-1 Q8N4S0-2

Explore the universe of human proteins at neXtProt for CCDC82: NX_Q8N4S0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N4S0

CCDC82 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_079001.2

ENSEMBL proteins:

ENSP00000278520 ENSP00000397156 ENSP00000442723 ENSP00000431148 ENSP00000444010

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

CCDC82 for domains About GeneDecksing

2 InterPro domains/families:

IPR025244 DUF4196

IPR025451 DUF4211

Graphical View of Domain Structure for InterPro Entry Q8N4S0

ProtoNet protein and cluster: Q8N4S0

(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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		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC82 (see all 13):
		hsa-miR-577 hsa-miR-433 hsa-miR-429 hsa-miR-130a* hsa-miR-23c hsa-miR-181a-2* hsa-miR-374c hsa-miR-942

		SwitchGear 3'UTR luciferase reporter plasmid: CCDC82 3' UTR sequence

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In Situ Assay
Products:

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1 GenomeRNAi human phenotype for CCDC82:

Synthetic lethal with Ras

(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 CCDC82

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

2 Interacting proteins for CCDC82 (Q8N4S0³ ENSP00000278520⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VHL	P40337³, ENSP00000256474⁴	I2D: score=2 STRING: ENSP00000256474
EWSR1	Q01844³	I2D: score=1

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 CCDC82
Search CenterWatch for drugs/clinical trials and news about CCDC82 / CCD82

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 CCDC82 gene (2 alternative transcripts):

NM_014148.1 NM_024725.3

Unigene Cluster for CCDC82:

Coiled-coil domain containing 82

Hs.525088 [show with all ESTs]

Unigene Representative Sequence: AK074306

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

ENST00000278520(uc009ywp.3) ENST00000545264 ENST00000423339 ENST00000530106(uc009yws.3)

ENST00000538597 ENST00000530203 ENST00000524836 ENST00000525786 ENST00000542662(uc001pfx.4 uc009ywr.3)

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		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC82 (see all 13):
		hsa-miR-577 hsa-miR-433 hsa-miR-429 hsa-miR-130a* hsa-miR-23c hsa-miR-181a-2* hsa-miR-374c hsa-miR-942

		SwitchGear 3'UTR luciferase reporter plasmid: CCDC82 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC82 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC82 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AF161533.1 AF245436.1 AK027171.1 AK056790.1 AK074306.1 AK313893.1 AK314669.1 BC018663.2

BC033726.2

13 DOTS entries:

DT.100754158 DT.315182 DT.75193408 DT.92429695 DT.97779437 DT.95315835 DT.100022743 DT.100713860

DT.92429697 DT.95226909 DT.100722065 DT.40216416 DT.40118964

24/144 AceView cDNA sequences (see all 144):

AA768873 AI569330 AJ708733 BE219222 AA720647 BQ011625 AA749501 AV725349

AI476316 BQ025290 CA334825 AI685337 AA287509 AI784410 AW301603 BM725932

AL552045 AW303806 CR609047 H01529 AK056790 BG034082 AW411538 AA451627

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

CCDC82 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTATAATG

About this image

CCDC82 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC82 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC82

SOURCE GeneReport for Unigene cluster: Hs.525088

SABiosciences Custom PCR Arrays for CCDC82

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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 CCDC82 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc82^{1 , 5}	coiled-coil domain containing 82^{1, 5}	80.94(n)¹ 73.45(a)¹		9⁵ 66396¹ NM_025534.2¹ NP_079810.2¹ 13246982⁵
chicken (Gallus gallus)	Aves	CCDC82¹	coiled-coil domain containing 82	59.2(n) 49.51(a)		426136 XM_423807.3 XP_423807.3
lizard (Anolis carolinensis)	Reptilia	CCDC82⁶	--	41(a)	1 ↔ 1	3(195051607-195059201)
zebrafish (Danio rerio)	Actinopterygii	ccdc82¹	coiled-coil domain containing 82	49.8(n) 39.12(a)		327538 NM_199822.1 NP_956116.1

ENSEMBL Gene Tree for CCDC82 (if available)
TreeFam Gene Tree for CCDC82 (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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144660016^1,2		--	96085509(+)	`AGTGAA/GTAGAG`	1	--	int¹		0	--	--	--	--
rs78088681^1,2	F,	--	96085670(+)	`CCACAA/GTTGTG`	1	--	int¹		1		WA	118
rs112545803^1,2		--	96085711(+)	`TAATAC/TGGATA`	1	--	int¹		2		CSA WA	120
rs148503751^1,2		--	96085732(+)	`ATGAAC/TTGTAG`	1	--	int¹		0	--	--	--	--
rs112607330^1,2	C,	--	96085777(+)	`GTAGCT/-TTTTA`	1	--	int¹		1		CSA	2
rs142822374^1,2		--	96085789(+)	`GGATAC/TGTACA`	1	--	int¹		0	--	--	--	--
rs184179327^1,2		--	96085790(+)	`GATACA/GTACAC`	1	--	int¹		0	--	--	--	--
rs188583878^1,2		--	96085799(+)	`ACTACA/GGTCCA`	1	--	int¹		0	--	--	--	--
rs4753197^1,2	C,F,	--	96085865(+)	`AAAATT/AATCTA`	1	--	int¹		10		NA WA CSA EA	371
rs181163224^1,2		--	96085985(+)	`TAGATA/GTGCAA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC82 (96085929 - 96123087 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC82: --

SABiosciences Cancer Mutation PCR Assays

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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 CCDC82 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with CCDC82)

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

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)
Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)^{1, 2} Hu R.-M.... Chen J.-L. (2000)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)² Matsuoka S.... Elledge S.J. (2007)
Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)¹ Ewing R.M.... Figeys D. (2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)¹ Olsen J.V....Mann M. (2006)

(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: 79780	HGNC: 26282	AceView: FLJ23518	Ensembl:ENSG00000149231	euGenes: HUgn79780
ECgene: CCDC82	H-InvDB: CCDC82

(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 CCDC82	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC82 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC82 gene:
Search GeneIP for patents involving CCDC82

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
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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

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 CCDC82 gene at Home site.

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CCDC82 Gene

coiled-coil domain containing 82

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CCDC82 Gene

coiled-coil domain containing 82

Aliasesfor CCDC82 gene

Summariesfor CCDC82 gene

Genomic Viewsfor CCDC82 gene

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Protein Domains /Familiesfor CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene

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for CCDC82 gene