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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C2orf80 Gene

protein-coding GIFtS: 37
GCID: GC02M209030

chromosome 2 open reading frame 80

Explore 2 diseases affiliated with
C2orf80 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
Chromosome 2 Open Reading Frame 80¹ ²
LOC389073¹
Uncharacterized Protein C2orf80²

External Ids:	HGNC: 34352¹	Entrez Gene: 389073²	Ensembl: ENSG00000188674⁷	UniProtKB: Q0P641³

Export aliases for C2orf80 gene to outside databases

Previous GC identifers: GC02M208739 GC02M200878

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C2orf80 gene promoter:
HOXA9B Tal-1 HTF POU6F1 (c2) Tal-1beta E47 C/EBPalpha FOXO4 ITF-2 Meis-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 C2orf80

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

Entrez Gene cytogenetic band: 2q34 Ensembl cytogenetic band: 2q34 HGNC cytogenetic band: 2q33.3

C2orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf80 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M209030: view genomic region (about GC identifiers)

Start:	209,030,067 bp from pter	End:	209,054,797 bp from pter
Size:	24,731 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: CB080_HUMAN, Q0P641 (See protein sequence)

Recommended Name: Uncharacterized protein C2orf80

Size: 193 amino acids; 22038 Da

Secondary accessions: A6NKZ3

Explore the universe of human proteins at neXtProt for C2orf80: NX_Q0P641

C2orf80 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001092804.1

ENSEMBL proteins:

ENSP00000389385 ENSP00000343171 ENSP00000405393 ENSP00000408378 ENSP00000397144

ENSP00000413016 ENSP00000397281

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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: Q0P641

(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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About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C2orf80

(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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Search CenterWatch for drugs/clinical trials and news about C2orf80 / CB080

(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 C2orf80 gene:

NM_001099334.2

Unigene Cluster for C2orf80:

Chromosome 2 open reading frame 80

Hs.198416 [show with all ESTs]

Unigene Representative Sequence: BC035737

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

ENST00000451342 ENST00000341287(uc002vcr.3) ENST00000451346 ENST00000428015

ENST00000453017 ENST00000423952 ENST00000449053

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Additional cDNA sequence: BC035737.1

4 DOTS entries:

DT.440055 DT.70104081 DT.97774647 DT.100743513

16 AceView cDNA sequences:

AW138581 BM805695 AL535414 BI756746 AA211233 BC035737 BI822703 AW136505

BG192322 BM806058 BI554282 N55138 AA120960 AI655684 R22701 BG211448

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf80 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b
SP1:
SP2:															-		-

ECgene alternative splicing isoforms for C2orf80

(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

C2orf80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTACATTTT

About this image

C2orf80 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

Primary Follicle

Granulosa Cells

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C2orf80 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf80

SOURCE GeneReport for Unigene cluster: Hs.198416

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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 C2orf80 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	D630023F18Rik^{1 , 5}	RIKEN cDNA D630023F18 gene^{1, 5}	76.68(n)¹ 69.43(a)¹		1 (32.84 cM)⁵ 98303¹ NM_175293.3¹ NP_780502.1¹ 65100619⁵
zebrafish (Danio rerio)	Actinopterygii	LOC100536292¹	uncharacterized protein C2orf80 homolog	54(n) 48(a)		100536292 XM_003199196.1 XP_003199244.1

ENSEMBL Gene Tree for C2orf80 (if available)
TreeFam Gene Tree for C2orf80 (if available)

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

Paralogs for C2orf80 gene

C2orf80 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for C2orf80
PGOHUM00000240508

(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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34111482^1,2	C	--	209030331(+)	`TTTTTT/-AAGAA`	1	--	ut3¹		1		NA	2
rs200790495^1,2	C	--	209030344(-)	`ATTTTC/TTTAAA`	1	--	ut3¹		0	--	--	--	--
rs73986528^1,2	C,F,	--	209030400(+)	`AATAAC/TACTTC`	1	--	ut3¹		4		WA CSA NA	242
rs75916583^1,2	C,	--	209030520(+)	`GTACAA/GTTCCA`	1	--	ut3¹		2		WA EU	1439
rs61737639^1,2	F	--	209030540(+)	`GTGACC/TTGCAG`	1	--	spa¹		1		NS	76
rs181904127^1,2	C,	--	209030558(+)	`GATGAC/TTTTGG`	1	--	int¹		0	--	--	--	--
rs6721025^1,2	C,F,A,H,	--	209030572(+)	`CAAGCG/ACATCA`	1	--	int¹		10		NA WA CSA EA EU	1683
rs796281^1,2	C,F,O,A,H,	--	209030578(+)	`CATCAA/GTTTAA`	1	--	int¹		11		NA WA CSA EA EU	1704
rs185882181^1,2		--	209030597(+)	`CAGACA/GTTACT`	1	--	int¹		0	--	--	--	--
rs140035789^1,2		--	209030672(+)	`TAATGC/TAATTA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C2orf80 (209030067 - 209054797 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C2orf80: --

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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

C2orf80 for disorders About GeneDecksing

2 diseases for C2orf80: About MalaCards

prostate cancer prostatitis

Human Genome Epidemiology (HuGE) Navigator: C2orf80 (1 document)

Export disorders for C2orf80 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 C2orf80 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C2orf80)

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

Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion. (PubMed id 22080834)^{1, 3} Hill M.J....Bray N.J. (2012)
Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)¹ Xu J....Isaacs W.B. (2010)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (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)
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)

(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: 389073	HGNC: 34352	AceView: LOC389073	Ensembl:ENSG00000188674	euGenes: HUgn389073
ECgene: C2orf80	H-InvDB: C2orf80

(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 C2orf80	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C2orf80 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C2orf80 gene:
Search GeneIP for patents involving C2orf80

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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Hot genes Disease genes C2orf80 gene at Home site.

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C2orf80 Gene

chromosome 2 open reading frame 80

Aliases
for C2orf80 gene

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C2orf80 Gene

chromosome 2 open reading frame 80

Aliasesfor C2orf80 gene

Summariesfor C2orf80 gene

Genomic Viewsfor C2orf80 gene

Proteinsfor C2orf80 gene

Protein Domains /Familiesfor C2orf80 gene

Functionfor C2orf80 gene

Pathways & Interactionsfor C2orf80 gene

Drugs & Compoundsfor C2orf80 gene

Transcriptsfor C2orf80 gene

Expression for C2orf80 gene

Orthologsfor C2orf80 gene

Paralogsfor C2orf80 gene

Genomic Variantsfor C2orf80 gene

Disorders / Diseasesfor C2orf80 gene

Publicationsfor C2orf80 gene

External Searches for C2orf80 gene

Genome Databases showing C2orf80 gene

Other Databases showing C2orf80 gene

Specialized Databases showing C2orf80 gene

Intellectual Propertyfor C2orf80 gene

Productsfor C2orf80 gene

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Aliases
for C2orf80 gene

Summaries
for C2orf80 gene

Genomic Views
for C2orf80 gene

Proteins
for C2orf80 gene

Protein Domains /
Families
for C2orf80 gene

Function
for C2orf80 gene

Pathways & Interactions
for C2orf80 gene

Drugs & Compounds
for C2orf80 gene

Transcripts
for C2orf80 gene

Expression
for C2orf80 gene

Orthologs
for C2orf80 gene

Paralogs
for C2orf80 gene

Genomic Variants
for C2orf80 gene

Disorders / Diseases
for C2orf80 gene

Publications
for C2orf80 gene

Intellectual Property
for C2orf80 gene

Products
for C2orf80 gene