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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC57 Gene

protein-coding GIFtS: 41
GCID: GC17M080059

coiled-coil domain containing 57

Search for CCDC57
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 57¹ ²
FLJ00130¹
FLJ23754¹
Coiled-Coil Domain-Containing Protein 57²

External Ids:	HGNC: 27564¹	Entrez Gene: 284001²	Ensembl: ENSG00000176155⁷	UniProtKB: Q2TAC2³

Export aliases for CCDC57 gene to outside databases

Previous GC identifers: GC17M077705 GC17M077652 GC17M075459

(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 CCDC57

(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_000017.10 NC_018928.1 NT_010663.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC57 gene promoter:
AREB6 Lmo2 E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC57 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC57

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC57

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

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

CCDC57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC57 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M080059: view genomic region (about GC identifiers)

Start:	80,059,336 bp from pter	End:	80,170,706 bp from pter
Size:	111,371 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: CCD57_HUMAN, Q2TAC2 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 57

Size: 916 amino acids; 103167 Da

Sequence caution: Sequence=EAW89746.1; Type=Erroneous gene model prediction;

Secondary accessions: A6NP51 A8MQC7 Q8IWG2 Q8TER3

Alternative splicing: 2 isoforms: Q2TAC2-1 Q2TAC2-2

Explore the universe of human proteins at neXtProt for CCDC57: NX_Q2TAC2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q2TAC2

CCDC57 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_932348.2

ENSEMBL proteins:

ENSP00000462653 ENSP00000374292 ENSP00000376156 ENSP00000463946 ENSP00000376157

ENSP00000408124 ENSP00000376154 ENSP00000462121 ENSP00000376158 ENSP00000315223

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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: Q2TAC2

(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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In Situ Assay
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2 GenomeRNAi human phenotypes for CCDC57:

G0/1 arrest

Increased G1 DNA content

Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ccdc57):

adipose tissue

craniofacial

integument

nervous system

CCDC57 for phenotypes About GeneDecksing

(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 CCDC57

2 Interacting proteins for CCDC57 (Q2TAC2³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MEF2C	Q06413³	I2D: score=1
PRKCB	P05771³	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 CCDC57
Search CenterWatch for drugs/clinical trials and news about CCDC57 / CCD57

(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 CCDC57 gene (2 alternative transcripts):

NM_152675.1 NM_198082.2

Unigene Cluster for CCDC57:

Coiled-coil domain containing 57

Hs.631724 [show with all ESTs]

Unigene Representative Sequence: AK074059

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000584717 ENST00000583053 ENST00000389641 ENST00000392345 ENST00000583593

ENST00000582100 ENST00000392346 ENST00000419322(uc002kdy.3) ENST00000483145

ENST00000582040 ENST00000327026(uc010dik.1 uc002kdz.1) ENST00000475635

ENST00000392343 ENST00000577530 ENST00000578187 ENST00000578910 ENST00000581625

ENST00000582885

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Additional cDNA sequence:

AF007146.1 AK074059.1 AK074334.1 AK125941.1 AL137530.1 BC040264.1 BC110997.1

20 DOTS entries:

DT.92417878 DT.92013304 DT.309426 DT.120914451 DT.100747221 DT.101982703 DT.95328156 DT.95287981

DT.121641214 DT.95373002 DT.91665738 DT.95255555 DT.97781682 DT.120914460 DT.102823630 DT.121622813

DT.91743978 DT.91996597 DT.92418610 DT.120914419

24/89 AceView cDNA sequences (see all 89):

BM710363 BQ673054 NM_152675 AA383950 AA383958 AL137530 BQ447936 AF007146

BF476278 AK074334 CD721883 AA235115 AK074059 AL045039 R07214 BX954599

BQ771559 BM805065 BM554536 AI024955 AI860913 T48837 CF138510 BF773051

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

CCDC57 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCCTGTGC

About this image

CCDC57 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 CCDC57 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC57

SOURCE GeneReport for Unigene cluster: Hs.631724

SABiosciences Custom PCR Arrays for CCDC57

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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 CCDC57 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc57^{1 , 5}	coiled-coil domain containing 57^{1, 5}	69.37(n)¹ 60.7(a)¹		11 (84.59 cM)⁵ 71276¹ NM_027745.1¹ NP_082021.1¹ 120826529⁵
chicken (Gallus gallus)	Aves	CCDC57⁶	Uncharacterized protein	35(a)	1 ↔ 1	18(4877364-4887086)
lizard (Anolis carolinensis)	Reptilia	CCDC57⁶	--	49(a)	1 ↔ 1	2(117966641-117991966)
zebrafish (Danio rerio)	Actinopterygii	CU137725.1⁶ CR932358.2⁶	--	45(a) 27(a)	many → 1 many → 1	12(34784958-34788079) 12(34860158-34886418)

ENSEMBL Gene Tree for CCDC57 (if available)
TreeFam Gene Tree for CCDC57 (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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144740622^1,2		--	80058855(+)	`TGTTCC/TGGGCG`	1	--	ds500¹		0	--	--	--	--
rs11653012^1,2	C,F,A,H,	--	80058857(+)	`TTCCGG/AGCGGA`	1	--	ds500¹		22		NS EA NA WA CSA	2338
rs183988851^1,2		--	80058870(+)	`GGCGTC/TAGTTT`	1	--	ds500¹		0	--	--	--	--
rs8080682^1,2	C,F,A,H,	--	80058901(+)	`TGCAGA/GTACCT`	1	--	ds500¹		8		NA WA CSA	16
rs149540556^1,2	C,	--	80058907(+)	`TACCT-/GGC CCCGGGCACT`	1	--	ds500¹		0	--	--	--	--
rs190487255^1,2		--	80058951(+)	`TCCTTC/TGTGGG`	1	--	ds500¹		0	--	--	--	--
rs139929169^1,2		--	80058985(+)	`TGACCA/GCTGTC`	1	--	ds500¹		0	--	--	--	--
rs143640671^1,2		--	80058993(+)	`GTCCCC/TGGTTG`	1	--	ds500¹		0	--	--	--	--
rs116681046^1,2	F,	--	80058995(+)	`CCCCGG/TTTGGC`	1	--	ds500¹		1		WA	118
rs8077079^1,2	C,F,A,H,	--	80059011(+)	`CCCTGC/TCAGCA`	1	--	ds500¹		10		NA WA EA	374

HapMap Linkage Disequilibrium report for CCDC57 (80059336 - 80170706 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for CCDC57
4 CNVs: 61592 58820 73078 73076
6 Indels: 34389 11902 43199 11903 41810 67281

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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

CCDC57 for disorders About MalaCards

CCDC57 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: CCDC57 (4 documents)

Export disorders for CCDC57 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 CCDC57 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with CCDC57)

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)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PubMed id 20682791)¹ Gorbea C.... Rechsteiner M. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. (PubMed id 15851553)¹ Ozyildirim A.M....Laurie G.W. (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)¹ Ota T.... Sugano S. (2004)
Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)² Jikuya H....Ohara O. (2003)

(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: 284001	HGNC: 27564	AceView: FLJ23754	Ensembl:ENSG00000176155	euGenes: HUgn284001
ECgene: CCDC57	H-InvDB: CCDC57

(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 CCDC57	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC57 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC57 gene:
Search GeneIP for patents involving CCDC57

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 CCDC57 gene at Home site.

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CCDC57 Gene

coiled-coil domain containing 57

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CCDC57 Gene

coiled-coil domain containing 57

Aliasesfor CCDC57 gene

Summariesfor CCDC57 gene

Genomic Viewsfor CCDC57 gene

Proteinsfor CCDC57 gene

Protein Domains /Familiesfor CCDC57 gene

Functionfor CCDC57 gene

Pathways & Interactionsfor CCDC57 gene

Drugs & Compoundsfor CCDC57 gene

Transcriptsfor CCDC57 gene

Expression for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene

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Families
for CCDC57 gene

Function
for CCDC57 gene

Pathways & Interactions
for CCDC57 gene

Drugs & Compounds
for CCDC57 gene

Transcripts
for CCDC57 gene

Expression
for CCDC57 gene

Orthologs
for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene

Disorders / Diseases
for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene

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for CCDC57 gene