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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC85A Gene

protein-coding GIFtS: 44
GCID: GC02P056411

coiled-coil domain containing 85A

Explore 1 disease affiliated with
CCDC85A 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 85A¹ ²
KIAA1912¹ ³
Coiled-Coil Domain-Containing Protein 85A²

External Ids:	HGNC: 29400¹	Entrez Gene: 114800²	Ensembl: ENSG00000055813⁷	UniProtKB: Q96PX6³

Export aliases for CCDC85A gene to outside databases

Previous GC identifers: GC02P056264 GC02P056146

(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_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC85A gene promoter:
Sox5 FOXF2 NRSF form 1 NF-kappaB NRSF form 2 C/EBPalpha POU2F1 POU2F1a Sox9 c-Myb
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CCDC85A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC85A

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

Entrez Gene cytogenetic band: 2p16.1 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p16.1

CCDC85A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC85A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P056411: view genomic region (about GC identifiers)

Start:	56,411,258 bp from pter	End:	56,613,309 bp from pter
Size:	202,052 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: CC85A_HUMAN, Q96PX6 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 85A

Size: 553 amino acids; 59976 Da

Sequence caution: Sequence=BAB67805.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Explore the universe of human proteins at neXtProt for CCDC85A: NX_Q96PX6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96PX6

CCDC85A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001073902.1

ENSEMBL proteins:

ENSP00000384040 ENSP00000385991

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

CCDC85A for domains About GeneDecksing

1 InterPro domain/family:

IPR019359 DUF2216_coiled-coil

Graphical View of Domain Structure for InterPro Entry Q96PX6

ProtoNet protein and cluster: Q96PX6

UniProtKB/Swiss-Prot: CC85A_HUMAN, Q96PX6

Similarity: Belongs to the CCDC85 family

(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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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC85A

(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 CCDC85A

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

3 Interacting proteins for CCDC85A (Q96PX6^{2, 3} ENSP00000384040⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NEK2	P51955²^,³	MINT-8263632 I2D: score=2
PFDN1	O60925²^,³	MINT-8265731 I2D: score=2
STMN2	Q93045²^,³, ENSP00000220876⁴	MINT-8272289 I2D: score=2 STRING: ENSP00000220876

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 CCDC85A
Search CenterWatch for drugs/clinical trials and news about CCDC85A / CC85A

(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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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 CCDC85A gene:

NM_001080433.1

Unigene Cluster for CCDC85A:

Coiled-coil domain containing 85A

Hs.117136 [show with all ESTs]

Unigene Representative Sequence: AB067499

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

ENST00000407595(uc021vhw.1 uc002rzn.3) ENST00000407862

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Additional cDNA sequence:

AB067499.2 AB593077.1 AK311739.1 BC131557.1

3 DOTS entries:

DT.311777 DT.40289689 DT.95367096

24/41 AceView cDNA sequences (see all 41):

AA665469 AA348705 BM927311 AA573710 AW956856 AI792277 BX091347 AI792066

BM693098 AA449549 AI376433 AL120102 AA904865 BF111762 AA970926 AW072369

AB067499 AW070361 AI809916 AA678771 AW592857 BM668974 N62981 AA934110

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

CCDC85A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CCDC85A 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

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

Human umbilical vein endothelial cells (HUVEC) (Primary Cell)

Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

See CCDC85A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC85A

SOURCE GeneReport for Unigene cluster: Hs.117136

SABiosciences Custom PCR Arrays for CCDC85A

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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 CCDC85A gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CCDC85A¹	coiled-coil domain containing 85A	77.86(n) 80.2(a)		421205 XM_003640882.1 XP_003640930.1
lizard (Anolis carolinensis)	Reptilia	CCDC85A⁶	--	75(a)	1 ↔ 1	1(256345015-256351761)
zebrafish (Danio rerio)	Actinopterygii	ccdc85a¹	coiled-coil domain containing 85A	64.35(n) 63.23(a)		100141348 NM_001114913.1 NP_001108385.1
fruit fly (Drosophila melanogaster)	Insecta	CG17265⁶	--	17(a)	1 → many	2L(2999286-3016069)
worm (Caenorhabditis elegans)	Secernentea	F29G9.2⁶	Protein F29G9.2, isoform b	19(a)	1 → many	V(6018975-6026324)

ENSEMBL Gene Tree for CCDC85A (if available)
TreeFam Gene Tree for CCDC85A (if available)

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

Paralogs for CCDC85A gene

CCDC85B² CCDC85C²

2 SIMAP similar genes for CCDC85A using alignment to 3 protein entries: CC85A_HUMAN (see all proteins):

CCDC85B CCDC85C

CCDC85A for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CCDC85A
PGOHUM00000250456

(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	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80010773^1,2	C,F,	--	56144297(+)	`TGGCTC/TGATCA`	1	--	int¹		3	WA NA EA	358
rs112045012^1,2		--	56144716(+)	`GAGATA/GGGGAC`	1	--	int¹		2	CSA WA	120
rs72801161^1,2	C,F,	--	56144935(+)	`GTTAAG/ACTGAG`	1	--	int¹		1	NA	120
rs78550467^1,2	C,F,	--	56145022(+)	`CCCCAA/GTAGGG`	1	--	int¹		1	WA	118
rs6742077^1,2	C,F,	--	56145198(+)	`CACCTC/GTTTAG`	1	--	int¹		1	WA	118
rs2216327^1,2	C,F,H,	--	56145699(-)	`TTGGGG/CAAAGG`	1	--	int¹ trp³		6	NS EA NA	526
rs79421063^1,2	C,F,	--	56145823(+)	`CACCTC/TGCATT`	1	--	int¹		1	NA	120
rs7565631^1,2	C,	--	56146085(+)	`AGCCCA/TTGCGG`	1	--	int¹		2	NA WA	120
rs3171924^1,2	F	--	56146086(+)	`GCCCAT/CGCGGG`	1	--	int¹		1	MN	184
rs77586647^1,2	F,	--	56146321(+)	`TCCAAG/CCTAGG`	1	--	int¹		1	WA	118

HapMap Linkage Disequilibrium report for CCDC85A (56411258 - 56613309 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CCDC85A
1 CNV: 3358

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

CCDC85A for disorders About GeneDecksing

1 disease for CCDC85A: About MalaCards

neurofibromatosis

Human Genome Epidemiology (HuGE) Navigator: CCDC85A (3 documents)

Export disorders for CCDC85A 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 CCDC85A gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC85A)

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

Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)^{1, 2, 3} Nagase T....Ohara O. (2001)
A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)¹ Elks C.E....Murray A. (2010)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
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: 114800	HGNC: 29400	AceView: KIAA1912	Ensembl:ENSG00000055813	euGenes: HUgn114800
ECgene: CCDC85A	H-InvDB: CCDC85A

(According to HUGE)
About This Section

HUGE: KIAA1912

(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 CCDC85A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC85A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC85A gene:
Search GeneIP for patents involving CCDC85A

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 CCDC85A gene at Home site.

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CCDC85A Gene

coiled-coil domain containing 85A

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Export list of displayed genes

CCDC85A Gene

coiled-coil domain containing 85A

Aliasesfor CCDC85A gene

Summariesfor CCDC85A gene

Genomic Viewsfor CCDC85A gene

Proteinsfor CCDC85A gene

Protein Domains /Familiesfor CCDC85A gene

Functionfor CCDC85A gene

Pathways & Interactionsfor CCDC85A gene

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Transcriptsfor CCDC85A gene

Expression for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

Expression
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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene

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for CCDC85A gene