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C20orf46 Gene

protein-coding GIFtS: 42

GC20M001109

chromosome 20 open reading frame 46
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
chromosome 20 open reading frame 46¹ ²
FLJ11190¹ ²
OTTHUMP00000029950²
transmembrane protein C20orf46²

External Ids:	HGNC: 15893¹	Entrez Gene: 55321²	Ensembl: ENSG00000125895⁷	UniProtKB: Q9NUR3³

Export aliases for C20orf46 gene to outside databases

Previous GC identifers: GC20M001149 GC20M001156

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C20orf46 gene promoter:
         ARP-1   p300   deltaCREB   CREB   POU2F1   STAT1alpha   STAT1beta   STAT2   STAT3   STAT4
         Other transcription factors

Search SABiosciences Chromatin IP Primers for C20orf46

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for C20orf46

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

Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13

C20orf46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C20orf46 gene location

GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M001109: view genomic region (about GC identifiers)

Start:	1,112,988 bp from pter
End:	1,116,894 bp from pter
Size:	3,907 bases
Orientation:	minus strand

1 alternative location:

Chr20- 1,161,205-1,166,059

RefSeq DNA sequence:

NC_000020.10 NT_011387.8

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CT046_HUMAN, Q9NUR3 (See protein sequence)

Recommended Name: Transmembrane protein C20orf46

Size: 256 amino acids; 27551 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for C20orf46: NX_Q9NUR3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_060824.1

ENSEMBL proteins:

ENSP00000371318 ENSP00000400552

Human Recombinant Proteins

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2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

C20orf46 for ontologies About GeneDecksing

Antibodies for C20orf46:

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Assays for C20orf46:

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	GenScript Custom Assay Services for C20orf46
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

ProtoNet protein and cluster: Q9NUR3

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for C20orf46 Sigma-Aldrich shRNA for C20orf46
		OriGene 29mer shRNA kits in GFP-retroviral vector: C20orf46 OriGene shRNA RFP: C20orf46 OriGene basic RS shRNA: C20orf46 OriGene siRNA: C20orf46
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of C20orf46

miRNA:		Sigma-Aldrich microRNA Mimics for C20orf46 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of C20orf46
		6 SABiosciences Assays for microRNAs that regulate C20orf46:
		hsa-miR-424 hsa-miR-15a hsa-miR-497 hsa-miR-195 hsa-miR-16 hsa-miR-15b

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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		OriGene GFP tagged cDNA clones in CMV expression vector: C20orf46 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: C20orf46 OriGene untagged cDNA clones in CMV expression vector: C20orf46 Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: C20orf46
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Cell
Lines:

GenScript Custom overexpressing Cell Line Services for C20orf46

1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17474147

About this table

C20orf46 for ontologies About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

SABiosciences Custom Pathway-Focused PCR Arrays for C20orf46

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C20orf46

1 Interacting protein for C20orf46 (Q9NUR3^{1, 2}) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519¹^,²	EBI-1753189,EBI-375543 MINT-7244506

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C20orf46

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for C20orf46 Sigma-Aldrich shRNA for C20orf46
		OriGene 29mer shRNA kits in GFP-retroviral vector: C20orf46 OriGene shRNA RFP: C20orf46 OriGene basic RS shRNA: C20orf46 OriGene siRNA: C20orf46
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of C20orf46

miRNA:		Sigma-Aldrich microRNA Mimics for C20orf46 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of C20orf46
		6 SABiosciences Assays for microRNAs that regulate C20orf46:
		hsa-miR-424 hsa-miR-15a hsa-miR-497 hsa-miR-195 hsa-miR-16 hsa-miR-15b

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: C20orf46 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: C20orf46 OriGene untagged cDNA clones in CMV expression vector: C20orf46 Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: C20orf46

Primers:		OriGene genome-wide validated SYBR primer pairs: C20orf46 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for C20orf46: PPH12958A

REFSEQ mRNAs for C20orf46 gene:

NM_018354.1

Additional cDNA sequence:

AK002052.1 AK126837.1 BC126988.1 BC126989.1

5 DOTS entries:

DT.431317 DT.100018041 DT.95153522 DT.95155571 DT.97765873

24/43 AceView cDNA sequences (see all 43):

AK002052 CF529250 CA443597 BM665389 BU737622 BQ013529 NM_018354 BM699884

CA407847 BM545116 BM998032 CF530022 BU734023 AI682316 AK126837 BI819339

AA584257 CB528626 CA439662 CA449827 AI266152 AW628999 AU157393 CD367044

highest scoring ESTs for C20orf46:

AI991260 AK002052 AU137961 AW392036 D30867 AI025814 AI127843 AI597897 AI682316 AU157393

Unigene Cluster for C20orf46:

Chromosome 20 open reading frame 46

Hs.516834 [show with all ESTs]

Unigene Representative Sequence: AK126837

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C20orf46

ExUns:	1a	·	1b	^	2	^	3
SP1:
SP2:

About this scheme

ECgene alternative splicing isoforms for C20orf46
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000381894(uc010gaa.1 uc002weq.1) ENST00000481747 ENST00000429036

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

C20orf46 expression in normal and diseased human tissues

¹ / ² / ³

3 probe-sets matching C20orf46 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
89186_at²^{, 3}	U95-E	1	0.38	1.00	1.00	1.00	AI991260	0.80	1.00	0.91	1
219958_at²^{, 3}	U133-A	1	0.55	1.00	--	--	NM_018354	0.60	1.00	0.82	1
219958_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--

About this table

C20orf46 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

C20orf46 gene electronic northern expression

About these images

CGAP SAGE TAG: CCCCACACGG

SOURCE GeneReport for Unigene cluster: Hs.516834

Primers:		OriGene genome-wide validated SYBR primer pairs: C20orf46 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for C20orf46: PPH12958A

SABiosciences Custom PCR Arrays for C20orf46

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for C20orf46 gene from 5/6 species (see all 6)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC609575¹	--	similar to Protein C20orf46	89.02(n) 91.06(a)	609575 XM_846859.1 XP_851952.1
chimpanzee (Pan troglodytes)	LOC749328¹	--	hypothetical protein LOC749328	99.46(n) 99.59(a)	749328 XM_001167747.1 XP_001167747.1
cow (Bos taurus)	LOC539523¹	--	similar to mCG50094	87.67(n) 89.02(a)	539523 XM_587871.3 XP_587871.3
rat (Rattus norvegicus)	RGD1564048¹	--	similar to Protein C20orf46	84.13(n) 88.1(a)	499917 XM_575260.2 XP_575260.2
mouse (Mus musculus)	5430405G05Rik^{1 , 5}	2 (74.83 cM)⁵	RIKEN cDNA 5430405G05 gene^{1, 5}	84.58(n)¹ 88.63(a)¹	108832¹ XM_130642.6¹ XP_130642.2¹ AK043999⁵ AK077378⁵ (see all 8)

About this table Species with no ortholog for C20orf46

ENSEMBL Gene Tree for C20orf46 (if available)

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

Paralogs for C20orf46 gene

TMEM74²

C20orf46 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 20 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1217^1,2	C,F,O,A,H,	1162615(-)	`CACTAT/CCTACA`	1	--	int¹		22		MN NS EA NA WA	1460
rs909880^1,2	C,	1166037(-)	`GCGAGC/TAGGTA`	1	--	ng5¹		1		NA	2
rs909881^1,2	C,F,A,	1165258(-)	`gcgcgT/Cgtgcg`	1	--	ng5¹		2		MN WA	234
rs3827158^1,2	C,A,	1166912(+)	`TGATCG/ACCTAG`	1	--	ng5¹		9		NA EA WA	222
rs5839898^1,2	--	1165275(+)	`acaca-/CACACA cacac`	1	--	ng5¹		0	--	--	--	--
rs6033035^1,2	C,F,A,	1164930(+)	`AAAAAT/CGAGGA`	1	--	ut5¹		9		NS EA NA WA	612
rs6040349^1,2	C,F,A,	1161113(+)	`GACAGC/AAGAGG`	1	--	ng3¹		18		NS EA NA WA	1408
rs6040355^1,2	C,F,	1162696(+)	`tcttcA/G/Ttctta`	1	--	int¹		6		NA WA	82
rs6040358^1,2	C,F,A,	1163171(+)	`GGTTGG/AGGATG`	1	--	int¹		4		NA EA	94
rs6040359^1,2	C,F,	1163179(+)	`ATGGCA/GTGGCT`	1	--	int¹		7		NS NA EA WA	420

About this table

HapMap Linkage Disequilibrium images for C20orf46 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C20orf46: --

QIAGEN SeqTarget long-range PCR primers for resequencing C20orf46

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C20orf46 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C20orf46 (1 document)

Export disorders and mutations for C20orf46 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

5 PubMed articles for C20orf46 gene integrated from 7 sources:
(articles sorted by number of sources associating them with C20orf46)

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Replication of top markers of a genome-wide associati on study in multiple sclerosis in Spain. (PubMed id 20944657)¹ Cavanillas M.L....Urcelay E. (2010 Oct 14)
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)¹ Baranzini S.E....Oksenberg J.R. (2008)
Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)¹ Wu C....Li S.S. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 55321	HGNC: 15893	AceView: C20orf46	Ensembl:ENSG00000125895	euGenes: HUgn55321
ECgene: C20orf46	H-InvDB: C20orf46

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for C20orf46 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

About This Section

Patent Information for C20orf46 gene:
Search GeneIP for patents involving C20orf46

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

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of C20orf46
	SeqTarget long-range PCR primers for resequencing C20orf46
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for C20orf46
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of C20orf46

	GenScript Custom Purified and Recombinant Proteins Services for C20orf46		GenScript cDNA clones with any tag delivered in your preferred vector for C20orf46
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C20orf46 Gene

protein-coding GIFtS: 42

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C20orf46 Gene

protein-coding GIFtS: 42

Aliases & Descriptionsfor C20orf46 gene

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Aliases &
Descriptions
for C20orf46 gene

Summaries
for C20orf46 gene

Genomic Views
for C20orf46 gene

Proteins
for C20orf46 gene

Protein Domains/
Families
for C20orf46 gene

Gene Function
for C20orf46 gene

Pathways & Interactions
for C20orf46 gene

Drugs & Compounds
for C20orf46 gene

Transcripts
for C20orf46 gene

Expression
for C20orf46 gene

Orthologs
for C20orf46 gene

Paralogs
for C20orf46 gene

Genomic Variants
for C20orf46 gene

Disorders & Mutations
for C20orf46 gene

Medical News
for C20orf46 gene

Publications
for C20orf46 gene

Intellectual Property
for C20orf46 gene

Products
for C20orf46 gene