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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C12orf68 Gene

protein-coding GIFtS: 39
GCID: GC12P048577

chromosome 12 open reading frame 68

Search for C12orf68
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
Chromosome 12 Open Reading Frame 68¹ ²
LOC387856¹
Uncharacterized Protein C12orf68²

External Ids:	HGNC: 33749¹	Entrez Gene: 387856²	Ensembl: ENSG00000177875⁷	UniProtKB: Q52MB2³

Export aliases for C12orf68 gene to outside databases

Previous GC identifers: GC12P046866 GC12P045608

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C12orf68 gene promoter:
MyoD CUTL1 Arnt CREB PPAR-gamma1 HOXA5 deltaCREB ARP-1 PPAR-gamma2
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf68

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

Entrez Gene cytogenetic band: 12q13.11 Ensembl cytogenetic band: 12q13.11 HGNC cytogenetic band: 12q13.11

C12orf68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf68 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P048577: view genomic region (about GC identifiers)

Start:	48,577,366 bp from pter	End:	48,579,709 bp from pter
Size:	2,344 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: CL068_HUMAN, Q52MB2 (See protein sequence)

Recommended Name: Uncharacterized protein C12orf68

Size: 194 amino acids; 20484 Da

Secondary accessions: Q96MK5 Q96N39

Explore the universe of human proteins at neXtProt for C12orf68: NX_Q52MB2

C12orf68 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001013657.3

ENSEMBL proteins:

ENSP00000320849

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--

C12orf68 for ontologies About GeneDecksing

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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: Q52MB2

(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 C12orf68:

Decreased POU5F1-GFP protein e

(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 C12orf68

(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 C12orf68 gene:

NM_001013635.3

Unigene Cluster for C12orf68:

Chromosome 12 open reading frame 68

Hs.251699 [show with all ESTs]

Unigene Representative Sequence: NM_001013635

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000316554(uc001rrj.2)

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Additional cDNA sequence:

AK056003.1 AK056783.1 BC036801.1 BC049387.1

2 DOTS entries:

DT.113250 DT.95158846

24/51 AceView cDNA sequences (see all 51):

D59644 AA573400 D80193 BM704151 AL567286 AK056003 CB105430 D59638

AA573409 D80258 AL538402 BC049387 BQ068340 BC036801 BQ067941 AL541193

F10759 BI601259 BX423535 BQ897758 BM709739 D80263 BM805192 AL566978

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

C12orf68 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCTGTCCT

About this image

C12orf68 expression in embryonic tissues and stem cells

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

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Kidney

Metanephros

Kidney

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C12orf68 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf68

SOURCE GeneReport for Unigene cluster: Hs.251699

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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 human and mouse.

Orthologs for C12orf68 gene from 1/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	AI836003^{1 , 5}	expressed sequence AI836003^{1, 5}	89.88(n)¹ 91.62(a)¹		15 (54.17 cM)⁵ 239650¹ NM_177716.3¹ NP_808384.2¹ 98167806⁵

ENSEMBL Gene Tree for C12orf68 (if available)
TreeFam Gene Tree for C12orf68 (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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs138851549^1,2		--	48575417(+)	`AACATA/GCTTGC`	1	--	us2k¹		0	--	--	--	--
rs111581589^1,2		--	48575418(+)	`ACATGC/ATTGCT`	1	--	us2k¹		1		CSA	2
rs73304908^1,2	C,	--	48575489(+)	`TTTCTA/GGTTTT`	1	--	us2k¹		2		WA	120
rs113201423^1,2		--	48575646(+)	`AGAGGT/CAGGAG`	1	--	us2k¹		2		CSA WA	120
rs112123340^1,2	C,F,	--	48575724(+)	`GAATCG/ATTAGT`	1	--	us2k¹		2		NA CSA	4
rs74089163^1,2	C,F,	--	48575794(+)	`AATTTT/CTAATG`	1	--	us2k¹		6		WA NA CSA	245
rs183481719^1,2		--	48575876(+)	`ATAGTC/TCCCAC`	1	--	us2k¹		0	--	--	--	--
rs77109231^1,2	F,	--	48576032(+)	`GCCAGT/CCTACA`	1	--	us2k¹		1		NA	120
rs11168441^1,2	C,F,A,H,	--	48576054(+)	`TTTACA/C/GTAGTT`	1	--	us2k¹		11		EA NS NA WA CSA	542
rs188374003^1,2		--	48576174(+)	`TTAATC/TATTGT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C12orf68 (48577366 - 48579709 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for C12orf68
5 CNVs: 30600 2983 8729 3888 6987

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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

C12orf68 for disorders About MalaCards

C12orf68 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C12orf68 (1 document)

Export disorders for C12orf68 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 C12orf68 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf68)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann 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)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
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)
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)¹ Simpson J.C.... Wiemann S. (2000)
DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)

(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: 387856	HGNC: 33749	AceView: LOC387856	Ensembl:ENSG00000177875	euGenes: HUgn387856
ECgene: C12orf68	H-InvDB: C12orf68

(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 C12orf68	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C12orf68 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C12orf68 gene:
Search GeneIP for patents involving C12orf68

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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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf68

	SwitchGear 3'UTR luciferase reporter plasmids for C12orf68
	Browse SwitchGear Promoter luciferase reporter plasmids for C12orf68

Search ThermoFisher Antibodies for C12orf68

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf68

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

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C12orf68 gene at Home site.

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C12orf68 Gene

chromosome 12 open reading frame 68

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C12orf68 Gene

chromosome 12 open reading frame 68

Aliasesfor C12orf68 gene

Summariesfor C12orf68 gene

Genomic Viewsfor C12orf68 gene

Proteinsfor C12orf68 gene

Protein Domains /Familiesfor C12orf68 gene

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Genome Databases showing C12orf68 gene

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Specialized Databases showing C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

Genomic Views
for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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for C12orf68 gene

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