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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC65 Gene

protein-coding GIFtS: 41
GCID: GC12P049297

coiled-coil domain containing 65

Explore 3 diseases affiliated with
CCDC65 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 65¹ ²
NYD-SP28¹ ²
Testis Development Protein NYD-SP28² ³
FLJ35732¹
Coiled-Coil Domain-Containing Protein 65²

External Ids:	HGNC: 29937¹	Entrez Gene: 85478²	Ensembl: ENSG00000139537⁷	OMIM: 611088⁵	UniProtKB: Q8IXS2³

Export aliases for CCDC65 gene to outside databases

Previous GC identifers: GC12P047585 GC12P046329

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

Entrez Gene summary for CCDC65:

CCDC65 is a sperm tail protein that is posttranslationally modified during sperm capacitation (Zheng et al., 2006

(PubMed 17089017)).(supplied by OMIM, Mar 2008)

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC65 gene promoter:
c-Fos PPAR-gamma1 AP-1 HSF2 ATF-2 HSF1 (long) c-Jun MIF-1 AP-4 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC65 promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC65

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

Entrez Gene cytogenetic band: 12q13.12 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13.12

CCDC65 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC65 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P049297: view genomic region (about GC identifiers)

Start:	49,297,893 bp from pter	End:	49,325,623 bp from pter
Size:	27,731 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,
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About This Section

UniProtKB/Swiss-Prot: CCD65_HUMAN, Q8IXS2 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 65

Size: 484 amino acids; 57297 Da

Sequence caution: Sequence=BAC05324.1; Type=Erroneous initiation;

Secondary accessions: A6NJG5 B2RBE2 Q8N7G4 Q8NA91 Q96JA0

Alternative splicing: 2 isoforms: Q8IXS2-1 Q8IXS2-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC65: NX_Q8IXS2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IXS2

CCDC65 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_149115.2

ENSEMBL proteins:

ENSP00000266984 ENSP00000446569 ENSP00000447157 ENSP00000312706

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

ProtoNet protein and cluster: Q8IXS2

(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 CCDC65:

Increased S DNA content, incre

(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 CCDC65

(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

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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 CCDC65 gene:

NM_033124.4

Unigene Cluster for CCDC65:

Coiled-coil domain containing 65

Hs.512805 [show with all ESTs]

Unigene Representative Sequence: NM_033124

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

ENST00000266984 ENST00000552942 ENST00000547861 ENST00000320516(uc001rso.3)

ENST00000552188

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Additional cDNA sequence:

AF382188.1 AK093051.1 AK098529.1 AK302082.1 AK314623.1 BC039317.1

7 DOTS entries:

DT.100774160 DT.97812076 DT.121151626 DT.95298694 DT.91993736 DT.91983112 DT.100774159

6 AceView cDNA sequences:

BC039317 AK093051 AX747886 AF382188 AK098529 NM_033124

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

CCDC65 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGTTTAAAA

About this image

CCDC65 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)

Brain

Choroid Plexus

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See CCDC65 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC65

SOURCE GeneReport for Unigene cluster: Hs.512805

UniProtKB/Swiss-Prot: CCD65_HUMAN, Q8IXS2

Tissue specificity: Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia.

Not detected in Leydig cells, nor in fetal testis (at protein level)

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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 CCDC65 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc65^{1 , 5}	coiled-coil domain containing 65^{1, 5}	81.65(n)¹ 83.01(a)¹		15 (54.65 cM)⁵ 105833¹ NM_153518.1¹ NP_705738.1¹ 98708227⁵
chicken (Gallus gallus)	Aves	LOC100857346¹	coiled-coil domain-containing protein 65-like	56.21(n) 46.19(a)		100857346 XM_003643485.1 XP_003643533.1
lizard (Anolis carolinensis)	Reptilia	CCDC65⁶	--	61(a)	1 ↔ 1	2(94181178-94190249)
zebrafish (Danio rerio)	Actinopterygii	ccdc65¹	coiled-coil domain containing 65	52.73(n) 42.92(a)		368824 NM_001002603.1 NP_001002603.1
fruit fly (Drosophila melanogaster)	Insecta	CG30259¹	CG30259	43.25(n) 27.62(a)		37606 NM_137864.2 NP_611708.2

ENSEMBL Gene Tree for CCDC65 (if available)
TreeFam Gene Tree for CCDC65 (if available)

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

Paralogs for CCDC65 gene

CCDC164²

CCDC65 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CCDC65
PGOHUM00000245543

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7489036^1,2	C,F,A,	--	49295949(+)	`AAAAAG/AGAGAG`	1	--	us2k¹ trp³		2		NA EA	240
rs181248708^1,2		--	49295982(+)	`AGAGAC/GAAAGA`	1	--	us2k¹		0	--	--	--	--
rs186130553^1,2		--	49296026(+)	`TAATCG/TACTTT`	1	--	us2k¹		0	--	--	--	--
rs4433614^1,2	C,F,H,	--	49296056(-)	`TATCCG/AGAAAA`	1	--	us2k¹		10		EA NS NA CSA WA	660
rs149321916^1,2		--	49296128(+)	`TAGGGG/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs191722168^1,2		--	49296143(+)	`CCGAAC/TATGGT`	1	--	us2k¹		0	--	--	--	--
rs182181354^1,2		--	49296178(+)	`TTTGGA/GAGGCC`	1	--	us2k¹		0	--	--	--	--
rs144567135^1,2		--	49296398(+)	`TGACAA/GAGTGA`	1	--	us2k¹		0	--	--	--	--
rs187610724^1,2		--	49296522(+)	`TTGACC/TTCTGG`	1	--	us2k¹		0	--	--	--	--
rs148449872^1,2		--	49296690(+)	`GCCTCA/GGCCTC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC65 (49297893 - 49325623 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CCDC65
1 CNV: 4777

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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

CCDC65 for disorders           About GeneDecksing

OMIM gene information: 611088    OMIM disorders: --

3 diseases for CCDC65:    About MalaCards

clear cell sarcoma sarcoma malaria

1 disease from the University of Copenhagen DISEASES database for CCDC65:

Clear cell sarcoma

Export disorders for CCDC65 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 CCDC65 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC65)

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

Cloning and characterization of a novel sperm tail protein, NYD- SP28. (PubMed id 17089017)^{1, 2} Zheng Y.... Sha J.-H. (2006)
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)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
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)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 85478	HGNC: 29937	AceView: NYD-SP28	Ensembl:ENSG00000139537	euGenes: HUgn85478
ECgene: CCDC65	H-InvDB: CCDC65

(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 CCDC65	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC65 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC65 gene:
Search GeneIP for patents involving CCDC65

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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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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Hot genes Disease genes CCDC65 gene at Home site.

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CCDC65 Gene

coiled-coil domain containing 65

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CCDC65 Gene

coiled-coil domain containing 65

Aliasesfor CCDC65 gene

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for CCDC65 gene

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for CCDC65 gene

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for CCDC65 gene

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for CCDC65 gene

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for CCDC65 gene

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