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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C6orf52 Gene

protein-coding GIFtS: 35
GCID: GC06M010671 (predicted)

chromosome 6 open reading frame 52

Search for C6orf52
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 6 Open Reading Frame 52¹ ²
Putative Uncharacterized Protein C6orf52²

External Ids:	HGNC: 20881¹	Entrez Gene: 347744²	Ensembl: ENSG00000137434⁷	UniProtKB: Q5T4I8³

ORGUL members:
	NONCODE:n407267 n407268

Export aliases for C6orf52 gene to outside databases

Previous GC identifers: GC06M010734 GC06M010779 GC06M010547

(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_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C6orf52 gene promoter:
PPAR-gamma1 STAT1 PPAR-gamma2 CUTL1 GATA-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf52

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

Entrez Gene cytogenetic band: 6p24.1 Ensembl cytogenetic band: 6p24.2 HGNC cytogenetic band: 6p24.2

C6orf52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf52 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M010671: view genomic region (about GC identifiers)

Start:	10,671,651 bp from pter	End:	10,695,030 bp from pter
Size:	23,380 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C6orf52

(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: CF052_HUMAN, Q5T4I8 (See protein sequence)

Recommended Name: Putative uncharacterized protein C6orf52

Size: 152 amino acids; 17383 Da

Sequence caution: Sequence=AAH16820.1; Type=Erroneous initiation; Sequence=CAI14001.1; Type=Erroneous initiation;

Secondary accessions: Q5T4I7 Q96AS6

Alternative splicing: 2 isoforms: Q5T4I8-1 Q5T4I8-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C6orf52: NX_Q5T4I8

C6orf52 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001138492.1

ENSEMBL proteins:

ENSP00000421264 ENSP00000421837 ENSP00000368905 ENSP00000410749 ENSP00000259983

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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: Q5T4I8

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

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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 C6orf52

(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

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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 C6orf52 gene:

NM_001145020.1

Unigene Cluster for C6orf52:

Chromosome 6 open reading frame 52

Hs.61389 [show with all ESTs]

Unigene Representative Sequence: NR_026736

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

ENST00000460742 ENST00000503680(uc011dil.2) ENST00000379586 ENST00000426700

ENST00000467832 ENST00000259983(uc011dij.2 uc011dik.2 uc003mzf.4)

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Additional cDNA sequence:

BC016820.1 NR_026736.1 NR_026737.1

7 DOTS entries:

DT.95158307 DT.75102633 DT.121391275 DT.75102632 DT.92419064 DT.92419065 DT.100755196

24/29 AceView cDNA sequences (see all 29):

BX280692 AI621292 AI492917 AW072546 AW082283 BE670432 AI809192 AI743034

BC016820 AW025669 AW182440 AI201400 AW293245 AI376550 T50351 AW771859

AW183488 AI299086 AW183566 BG186993 AW001000 BG216657 AA026303 AA026648

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf52 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6
SP1:			-
SP2:					-				-

ECgene alternative splicing isoforms for C6orf52

(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

C6orf52 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATTGCCACT

About this image

C6orf52 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)

Ovary

Antral Follicle

Secondary Oocyte

Female Gametocytes, Germ Cells

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 C6orf52 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C6orf52

SOURCE GeneReport for Unigene cluster: Hs.61389

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In Situ
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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 C6orf52 gene from 2/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	trnau1ap⁶	tRNA selenocysteine 1 associated protein 1	8(a)	1 → many	19(30374779-30384383)
fruit fly (Drosophila melanogaster)	Insecta	CG15440⁶	--	5(a)	1 → many	2L(4453167-4454457)

Species with no ortholog for C6orf52

ENSEMBL Gene Tree for C6orf52 (if available)
TreeFam Gene Tree for C6orf52 (if available)

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

Paralogs for C6orf52 gene

TRNAU1AP²

C6orf52 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73721353^1,2	C	--	10671232(+)	`CTTATG/CGGGCC`	3	--	int¹		1		WA	2
rs113584960^1,2		--	10671329(+)	`TTTCTC/TTCCAT`	3	--	int¹		1		CSA	2
rs112987139^1,2		--	10671333(+)	`TCTCCG/ATGAGA`	3	--	int¹		1		CSA	2
rs186028708^1,2		--	10671337(+)	`CATGAC/GAGTTT`	3	--	int¹		0	--	--	--	--
rs72821565^1,2	C	--	10671658(+)	`AGTATA/GATAAT`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs41271785^1,2	C,F	--	10671667(+)	`ATTGCG/AGAGTT`	3	--	ut3¹ nc-transcript-variant		2		NA EU	697
rs141054814^1,2		--	10671670(+)	`GCGGAG/TTTTAA`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs3737278^1,2	C,F,H	--	10671764(+)	`GAGTCG/ATAGAG`	4	/Y	syn¹ ese³		20		EA NS NA WA EU	4181
rs202208924^1,2	F	--	10671862(+)	`AAAAAA/GTAGAG`	3	--	int¹		1		EU	569
rs9467165^1,2	C,F	--	10671966(+)	`TAAATT/GGCATA`	3	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for C6orf52 (10671651 - 10695030 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C6orf52: --

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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 C6orf52 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C6orf52)

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)
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)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)² Mungall A.J.... Beck S. (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: 347744	HGNC: 20881	AceView: C6orf52	Ensembl:ENSG00000137434	euGenes: HUgn347744
ECgene: C6orf52	H-InvDB: C6orf52

(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 C6orf52	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C6orf52 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C6orf52 gene:
Search GeneIP for patents involving C6orf52

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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	Browse SwitchGear Promoter luciferase reporter plasmids for C6orf52

Search ThermoFisher Antibodies for C6orf52

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C6orf52

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C6orf52

Sirion Biotech Customized:

	stable knockdown cell line services for C6orf52
	inducible knockdown cell line services for C6orf52
	design and validation of potent shRNA sequences against C6orf52
	adenovirus for potent knockdown of C6orf52
	adenovirus for overexpression of C6orf52
	stable overexpressing cell line services for C6orf52
	inducible overexpressing cell line services for C6orf52

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 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 C6orf52 gene at Home site.

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C6orf52 Gene

chromosome 6 open reading frame 52

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C6orf52 Gene

chromosome 6 open reading frame 52

Aliasesfor C6orf52 gene

Summariesfor C6orf52 gene

Genomic Viewsfor C6orf52 gene

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External Searches for C6orf52 gene

Genome Databases showing C6orf52 gene

Other Databases showing C6orf52 gene

Specialized Databases showing C6orf52 gene

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for C6orf52 gene

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for C6orf52 gene

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for C6orf52 gene

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for C6orf52 gene

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for C6orf52 gene

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