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C2orf69 Gene

protein-coding GIFtS: 44
GCID: GC02P200775

Chromosome 2 Open Reading Frame 69

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MalaCards

disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 2 Open Reading Frame 69¹ ²
Hypothetical Protein FLJ38973¹
UPF0565 Protein C2orf69²

External Ids:	HGNC: 26799¹	Entrez Gene: 205327²	Ensembl: ENSG00000178074⁷	UniProtKB: Q8N8R5³

ORGUL members:

Export aliases for C2orf69 gene to outside databases

Previous GC identifers: GC02P200485 GC02P192628

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

GeneCards Summary for C2orf69 Gene:

C2orf69 (chromosome 2 open reading frame 69) is a protein-coding gene.

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000002.11 NC_018913.2 NT_005403.18

Regulatory elements:

Regulatory transcription factor binding sites in the C2orf69 gene promoter:
Elk-1 RP58 AML1a Bach2 POU6F1 (c2) Tal-1beta YY1 S8 Sox9 ITF-2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for C2orf69

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf69

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

Entrez Gene cytogenetic band: 2q33.1 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33.1

C2orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf69 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P200775: view genomic region (about GC identifiers)

Start:	200,775,979 bp from pter	End:	200,820,658 bp from pter
Size:	44,680 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: CB069_HUMAN, Q8N8R5 (See protein sequence)

Recommended Name: UPF0565 protein C2orf69 precursor

Size: 385 amino acids; 43448 Da

Sequence caution: Sequence=EAW70190.1; Type=Erroneous gene model prediction;

Secondary accessions: Q8NE30

Explore the universe of human proteins at neXtProt for C2orf69: NX_Q8N8R5

Explore proteomics data for C2orf69 at MOPED

Post-translational modifications:

Glycosylation² at Asn128, Asn196

See C2orf69 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_710156.3

ENSEMBL proteins:

ENSP00000312770

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

1 InterPro protein domain:

IPR018881 UPF0565

Graphical View of Domain Structure for InterPro Entry Q8N8R5

ProtoNet protein and cluster: Q8N8R5

UniProtKB/Swiss-Prot: CB069_HUMAN, Q8N8R5

Similarity: Belongs to the UPF0565 family

Find genes that share domains with C2orf69 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Phenotypes:
3 GenomeRNAi human phenotypes for C2orf69:

Decreased POU5F1-GFP protein e

Increased G1 DNA content

Increased gamma-H2AX phosphory

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

CB069_HUMAN, Q8N8R5: Secreted (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	3
mitochondrion	2
cytosol	1
golgi apparatus	1
peroxisome	1

About this image

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

Find genes that share ontologies with C2orf69 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for C2orf69
Interactions:

Search GeneGlobe Interaction Network for C2orf69

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

4 Interacting proteins for C2orf69 (Q8N8R5³ ENSP00000312770⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCNA	P12004³, ENSP00000368438⁴	I2D: score=5 STRING: ENSP00000368438
DYNLT1	P63172³	I2D: score=5
ZNF330	Q9Y3S2³	I2D: score=5
CBX1	ENSP00000225603⁴	STRING: ENSP00000225603

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Browse Tocris compounds for C2orf69 (CB069)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for C2orf69 gene:

NM_153689.5

Unigene Cluster for C2orf69:

Chromosome 2 open reading frame 69

Hs.471040 [show with all ESTs]

Unigene Representative Sequence: NM_153689

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

ENST00000319974(uc010zhb.2) ENST00000491721

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Additional mRNA sequence:

AK096292.1 BC036456.1

4 DOTS entries:

DT.312247 DT.451928 DT.121026018 DT.95155462

Selected AceView cDNA sequences (see all 90):

AI335602 AK096292 CD238278 CK818874 AI276538 AA883996 AI080344 AI342816

BU076261 H85463 AI472937 AI810100 BP375015 AA946724 BU679909 AA845433

CB130830 AA814824 CK818875 AA417956 AA291133 BM126285 AA815049 BX480237

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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C2orf69 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATGTATAAT

About this image

C2orf69 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

C2orf69 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.471040

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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 C2orf69 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1700066M21Rik^{1 , 5}	RIKEN cDNA 1700066M21 gene^{1, 5}	84.31(n)¹ 82.46(a)¹		1 (28.78 cM)⁵ 73467¹ NM_028546.1¹ NP_082822.1¹ 57377620⁵
chicken (Gallus gallus)	Aves	C7H2ORF69¹	chromosome 7 open reading frame, human C2orf69	73.43(n) 74.53(a)		424064 NM_001039306.1 NP_001034395.1
lizard (Anolis carolinensis)	Reptilia	C2orf69⁶	chromosome 2 open reading frame 69	61(a)	1 ↔ 1	GL343343.1(416863-431396)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9332²	Transcribed sequences	74.63(n)		137709328
zebrafish (Danio rerio)	Actinopterygii	zgc:153521¹	zgc:153521	54.48(n) 49.31(a)		777620 NM_001077728.1 NP_001071196.2
fruit fly (Drosophila melanogaster)	Insecta	CG31122¹	CG31122	50.42(n) 41.6(a)		42221 NM_001275782.1 NP_001262711.1

ENSEMBL Gene Tree for C2orf69 (if available)
TreeFam Gene Tree for C2orf69 (if available)

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

Paralogs for C2orf69 gene

Find genes that share paralogs with C2orf69 About GenesLikeMe

5 Pseudogenes.org Pseudogenes for C2orf69
PGOHUM00000249104 PGOHUM00000249106 PGOHUM00000249108 PGOHUM00000249110 PGOHUM00000249112

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141773139^1,2		--	200774005(+)	`CAACTA/TTGTGG`	1	--	us2k¹		0	--	--	--	--
rs77742865^1,2	C,F	--	200774064(+)	`CTTCAA/GTAAGA`	1	--	us2k¹		1		WA	118
rs184394908^1,2		--	200774182(+)	`TCAACA/GTGGAG`	1	--	us2k¹		0	--	--	--	--
rs190374914^1,2		--	200774223(+)	`ATTAGC/TCGGGC`	1	--	us2k¹		0	--	--	--	--
rs146040118^1,2		--	200774316(+)	`TGAGCC/TGAGAT`	1	--	us2k¹		0	--	--	--	--
rs139905820^1,2		--	200774416(+)	`CAAGCC/TAAAAA`	1	--	us2k¹		0	--	--	--	--
rs192861144^1,2		--	200774450(+)	`ATTTGC/TAATTC`	1	--	us2k¹		0	--	--	--	--
rs185044013^1,2		--	200774529(+)	`TGCAAC/TTGGCA`	1	--	us2k¹		0	--	--	--	--
rs12619359^1,2	H	--	200774609(+)	`TTTTAA/CCCAGT`	1	--	us2k¹		0	--	--	--	--
rs115304233^1,2	F	--	200774979(+)	`CTTTGT/ACTCAC`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for C2orf69 (200775979 - 200820658 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for C2orf69: About this table

Variant ID	Type	Subtype	PubMed ID
nsv834510	CNV	Loss	17160897
nsv875704	CNV	Gain	21882294

Site Specific Mutation Identification with 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, Sets of similar genes according to GenesLikeMe)
About This Section

Find genes that share disorders with C2orf69 About GenesLikeMe

Genetic Association Database (GAD): C2orf69

Export disorders for C2orf69 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 C2orf69 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C2orf69)

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)¹ Ripke S....Sullivan P.F. (Nat. Genet. 2013)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)⁴ Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (Genomics 2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W.... Wilson R.K. (Nature 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. (Genome Res. 2004)

(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: 205327	HGNC: 26799	AceView: FLJ38973	Ensembl:ENSG00000178074	euGenes: HUgn205327
ECgene: C2orf69	H-InvDB: C2orf69

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for C2orf69	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C2orf69 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C2orf69 gene:
Search GeneIP for patents involving C2orf69

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section


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C2orf69 Gene

Chromosome 2 Open Reading Frame 69

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C2orf69 Gene

Chromosome 2 Open Reading Frame 69

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