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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C5orf46 Gene

protein-coding GIFtS: 38
GCID: GC05M147253

chromosome 5 open reading frame 46

Search for C5orf46
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 5 Open Reading Frame 46¹ ²
MGC23985¹
Uncharacterized Protein C5orf46²

External Ids:	HGNC: 33768¹	Entrez Gene: 389336²	Ensembl: ENSG00000178776⁷	UniProtKB: Q6UWT4³

Export aliases for C5orf46 gene to outside databases

Previous GC identifer: GC05M142419

(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_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C5orf46 gene promoter:
TBP GATA-1 PPAR-alpha POU2F1 POU2F1b POU2F1a Zic1 POU2F1c
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C5orf46

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf46

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

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q33.1

C5orf46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf46 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M147253: view genomic region (about GC identifiers)

Start:	147,260,289 bp from pter	End:	147,286,101 bp from pter
Size:	25,813 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: CE046_HUMAN, Q6UWT4 (See protein sequence)

Recommended Name: Uncharacterized protein C5orf46 precursor

Size: 87 amino acids; 9693 Da

Subcellular location: Secreted (Potential)

Secondary accessions: A8K038 Q8WU04

Alternative splicing: 2 isoforms: Q6UWT4-1 Q6UWT4-2

Explore the universe of human proteins at neXtProt for C5orf46: NX_Q6UWT4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6UWT4

C5orf46 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_996849.2

ENSEMBL proteins:

ENSP00000315370 ENSP00000425984

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	Uscn Proteins for C5orf46

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:0005576	extracellular region	IEA	--

C5orf46 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: Q6UWT4

(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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Animal Models:
Mouse knock-out Gm94^tm1Lex for C5orf46
1 MGI phenotypic allele

for Gm94 (no phenotypes)

C5orf46 for phenotypes About GeneDecksing

(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 C5orf46

(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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C5orf46
Search CenterWatch for drugs/clinical trials and news about C5orf46 / CE046

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for C5orf46 gene:

NM_206966.2

Unigene Cluster for C5orf46:

Chromosome 5 open reading frame 46

Hs.660038 [show with all ESTs]

Unigene Representative Sequence: CD556191

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

ENST00000510432 ENST00000318315(uc010jgp.3 uc003lou.3) ENST00000515291(uc003lov.4)

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Additional cDNA sequence:

AK289403.1 AY358656.1 BC021680.1

2 DOTS entries:

DT.75154212 DT.451991

24/91 AceView cDNA sequences (see all 91):

CB159576 AI362470 BM855672 AA436233 AA845156 BU581519 NM_003122 BM843311

CK905024 BC025790 BU581710 BG141336 AI362622 BM843236 AA569123 AA835382

BX497081 AA551894 NM_206966 BC021680 Y00705 AW005713 AI459618 BM090732

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

C5orf46 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAACAAAA

About this image

C5orf46 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C5orf46 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C5orf46

SOURCE GeneReport for Unigene cluster: Hs.660038

SABiosciences Custom PCR Arrays for C5orf46

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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 human and mouse.

Orthologs for C5orf46 gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gm94^{1 , 5}	predicted gene 94^{1, 5}	78.93(n)¹ 70.11(a)¹		18 (23.49 cM)⁵ 225443¹ NM_001033280.2¹ NP_001028452.1¹ 43777196⁵

ENSEMBL Gene Tree for C5orf46 (if available)
TreeFam Gene Tree for C5orf46 (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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79779381^1,2	F,	--	147271872(+)	`CCTGAC/TACTGC`	1	--	int¹		1		NA	120
rs114577881^1,2	F,	--	147271882(+)	`CTATTT/CTATGA`	1	--	int¹		1		WA	118
rs141728861^1,2		--	147271928(+)	`ATTAAC/TTTTAA`	1	--	int¹		0	--	--	--	--
rs146221589^1,2		--	147271942(+)	`GGTCAC/GTTTTT`	1	--	int¹		0	--	--	--	--
rs147999689^1,2		--	147271978(+)	`CTCAGA/TTAGTT`	1	--	int¹		0	--	--	--	--
rs141636186^1,2		--	147272031(+)	`GAAATG/TGCATA`	1	--	int¹		0	--	--	--	--
rs188409139^1,2		--	147272069(+)	`GAGGTC/GAGGTT`	1	--	int¹		0	--	--	--	--
rs59404183^1,2	C,	--	147272112(+)	`GAATTC/AGAACT`	1	--	int¹		2		CSA WA	120
rs192227484^1,2		--	147272225(+)	`ATCATC/TAAAAC`	1	--	int¹		0	--	--	--	--
rs150498229^1,2		--	147272238(+)	`TAAACA/GTGGCC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C5orf46 (147260289 - 147286101 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C5orf46
1 CNV: 6453

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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 C5orf46 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C5orf46)

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

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (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: 389336	HGNC: 33768	AceView: SPINK1andMGC23985	Ensembl:ENSG00000178776	euGenes: HUgn389336
ECgene: C5orf46	H-InvDB: C5orf46

(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 C5orf46	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C5orf46 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C5orf46 gene:
Search GeneIP for patents involving C5orf46

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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About This Section


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Search ThermoFisher Antibodies for C5orf46

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf46

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 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

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 C5orf46 gene at Home site.

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C5orf46 Gene

chromosome 5 open reading frame 46

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C5orf46 Gene

chromosome 5 open reading frame 46

Aliasesfor C5orf46 gene

Summariesfor C5orf46 gene

Genomic Viewsfor C5orf46 gene

Proteinsfor C5orf46 gene

Protein Domains /Familiesfor C5orf46 gene

Functionfor C5orf46 gene

Pathways & Interactionsfor C5orf46 gene

Drugs & Compoundsfor C5orf46 gene

Transcriptsfor C5orf46 gene

Expression for C5orf46 gene

Orthologsfor C5orf46 gene

Paralogsfor C5orf46 gene

Genomic Variantsfor C5orf46 gene

Disorders / Diseasesfor C5orf46 gene

Publicationsfor C5orf46 gene

External Searches for C5orf46 gene

Genome Databases showing C5orf46 gene

Other Databases showing C5orf46 gene

Specialized Databases showing C5orf46 gene

Intellectual Propertyfor C5orf46 gene

Productsfor C5orf46 gene

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Aliases
for C5orf46 gene

Summaries
for C5orf46 gene

Genomic Views
for C5orf46 gene

Proteins
for C5orf46 gene

Protein Domains /
Families
for C5orf46 gene

Function
for C5orf46 gene

Pathways & Interactions
for C5orf46 gene

Drugs & Compounds
for C5orf46 gene

Transcripts
for C5orf46 gene

Expression
for C5orf46 gene

Orthologs
for C5orf46 gene

Paralogs
for C5orf46 gene

Genomic Variants
for C5orf46 gene

Disorders / Diseases
for C5orf46 gene

Publications
for C5orf46 gene

Intellectual Property
for C5orf46 gene

Products
for C5orf46 gene