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C19orf47 Gene

protein-coding GIFtS: 43
GCID: GC19M040826

Chromosome 19 Open Reading Frame 47

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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

Aliases
Chromosome 19 Open Reading Frame 47¹ ²
Uncharacterized Protein C19orf47²

External Ids:	HGNC: 26723¹	Entrez Gene: 126526²	Ensembl: ENSG00000160392⁷	UniProtKB: Q8N9M1³

Export aliases for C19orf47 gene to outside databases

Previous GC identifers: GC19M045517 GC19M037262

(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 C19orf47 Gene:

C19orf47 (chromosome 19 open reading frame 47) 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_000019.9 NT_011109.17 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the C19orf47 gene promoter:
Max1 Pax-5 AREB6 CP2 CBF-A CBF-B CP1A c-Myc CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C19orf47 promoter sequence

Search Chromatin IP Primers for C19orf47

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf47

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

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2

C19orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf47 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M040826: view genomic region (about GC identifiers)

Start:	40,825,443 bp from pter	End:	40,854,434 bp from pter
Size:	28,992 bases	Orientation:	minus 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: CS047_HUMAN, Q8N9M1 (See protein sequence)

Recommended Name: Uncharacterized protein C19orf47

Size: 422 amino acids; 44746 Da

Secondary accessions: Q8IZ33 Q8N0V9

Alternative splicing: 3 isoforms: Q8N9M1-1 Q8N9M1-2 Q8N9M1-3

Explore the universe of human proteins at neXtProt for C19orf47: NX_Q8N9M1

Explore proteomics data for C19orf47 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See C19orf47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001243369.1 NP_001243370.1

ENSEMBL proteins:

ENSP00000463159 ENSP00000464567 ENSP00000375889 ENSP00000350556 ENSP00000463305

ENSP00000464478 ENSP00000463294

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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:

IPR013761 SAM/pointed

Graphical View of Domain Structure for InterPro Entry Q8N9M1

ProtoNet protein and cluster: Q8N9M1

Find genes that share domains with C19orf47 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

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for C19orf47

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In Situ Assay
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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 COMPARTMENTS:

Compartment	Confidence
nucleus	4
cytosol	1

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--

Find genes that share ontologies with C19orf47 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 C19orf47
Interactions:

Search GeneGlobe Interaction Network for C19orf47

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C19orf47 (ENSP00000375889⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKAA2	ENSP00000360290⁴	STRING: ENSP00000360290

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

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(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 C19orf47 gene (6 alternative transcripts):

NM_001256440.1 NM_001256441.1 NM_178830.2 XM_005258520.1 XM_005258521.1 XM_005258522.2

Unigene Cluster for C19orf47:

Chromosome 19 open reading frame 47

Hs.631557 [show with all ESTs]

Unigene Representative Sequence: CR936760

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

ENST00000582783(uc002oni.4) ENST00000577617 ENST00000392035(uc002ong.3 uc002onh.3)

ENST00000582734 ENST00000584868 ENST00000357884 ENST00000582006 ENST00000580606

ENST00000580977

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Additional mRNA sequence:

AK094207.1 AL834131.1 BC023623.2 BC027935.1 CR936760.1 NR_046202.1

10 DOTS entries:

DT.308784 DT.100783728 DT.121470397 DT.95070273 DT.100783729 DT.100783731 DT.121470336 DT.100707851

DT.100885917 DT.91781047

Selected AceView cDNA sequences (see all 94):

AL555423 AJ572881 AK094207 BU857685 BX363522 NM_178830 BI259748 BI256930

BC027935 BQ879861 BM987294 BI827924 F36994 BG680008 AI886956 BM670612

AI969781 BQ685500 BC023623 BM459040 BM763065 BQ686373 BM711112 BE395946

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for C19orf47 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·	13b
SP1:			-		-				-								-
SP2:					-												-
SP3:									-
SP4:									-								-
SP5:																	-

ECgene alternative splicing isoforms for C19orf47

(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

C19orf47 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TCCTCTGTGC

About this image

C19orf47 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

C19orf47 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.631557

Custom PCR Arrays for C19orf47

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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 C19orf47 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2310022A10Rik¹	RIKEN cDNA 2310022A10 gene	83.83(n) 85.5(a)		66367 NM_175107.5 NP_780316.3
lizard (Anolis carolinensis)	Reptilia	C19orf47⁶	chromosome 19 open reading frame 47	62(a)	1 ↔ 1	LGf(2268935-2277057)
African clawed frog (Xenopus laevis)	Amphibia	Xl.6739²	Xenopus laevis transcribed sequence with weak similarity more	75.82(n)		BX854187.1
zebrafish (Danio rerio)	Actinopterygii	si:ch211-160d20.3¹	si:ch211-160d20.3	61.38(n) 62.61(a)		692267 NM_001045241.1 NP_001038706.1
fruit fly (Drosophila melanogaster)	Insecta	CG16812⁶	--	22(a)	1 ↔ 1	2L(13222561-13224550)
worm (Caenorhabditis elegans)	Secernentea	F53F8.5⁶	Protein F53F8.5 (F53F8.5) mRNA, complete cds	20(a)	1 ↔ 1	V(20700559-20704037) WBGene00010002

ENSEMBL Gene Tree for C19orf47 (if available)
TreeFam Gene Tree for C19orf47 (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 C19orf47 gene

Selected SIMAP similar genes for C19orf47 using alignment to 6 protein entries: CS047_HUMAN (see all proteins) (see all similar genes):

MTX2 ECD COX7A2 C12orf23 ZNF738 SENP7

SUN3 WDR6 PSD3 TGFBR3 IPO7 MST132

C15orf40 ZNF415 ZNF616 CNOT2 FANCA KLHDC1

Find genes that share paralogs with C19orf47 About GenesLikeMe

(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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs151145854^1,2	C	--	40826503(+)	`GCCCTA/GGCCAC`	3	--	ds500¹		0	--	--	--	--
rs141080437^1,2	C	--	40826707(+)	`GGTGCC/TAGCAG`	3	--	ds500¹		0	--	--	--	--
rs77335065^1,2	C,F	--	40826722(+)	`GTGAAA/CTCCAT`	3	--	ds500¹		2		CSA WA	120
rs189590307^1,2		--	40826855(+)	`TGTGTA/GTGCAG`	3	--	ds500¹		0	--	--	--	--
rs182053735^1,2		--	40826947(+)	`ACTCAC/TCCTGA`	3	--	ds500¹		0	--	--	--	--
rs45497695^1,2	C,F	--	40826964(+)	`GGGGGA/TAATGA`	3	--	ds500¹		6		WA CSA NA EA	363
rs76105609^1,2	C,F	--	40827436(+)	`GCTGGG/AGTCTG`	3	--	ut3¹ nc-transcript-variant		1		EA	120
rs140657147^1,2	C	--	40827598(+)	`CCAGGC/TCAGCT`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs145840741^1,2		--	40827606(+)	`GCTGCA/GACGAC`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs187661182^1,2		--	40827645(+)	`CCCCCA/GAATGC`	3	--	ut3¹ nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for C19orf47 (40825443 - 40854434 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for C19orf47: About this table

Variant ID	Type	Subtype	PubMed ID
dgv3867n71	CNV	Loss	21882294
nsv833831	CNV	Loss	17160897
dgv1083e1	CNV	Complex	17122850

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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

(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 C19orf47 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with C19orf47)

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. (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)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (Sci. Signal. 2009)
Two-hybrid analysis identifies PSMD11, a non-ATPase subunit of the proteasome, as a novel interaction partner of AMP-activated protein kinase. (PubMed id 19616115)¹ Moreno D.... Sanz P. (Int. J. Biochem. Cell Biol. 2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (BMC Genomics 2007)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (Nucleic Acids Res. 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. (Genome Res. 2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (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: 126526	HGNC: 26723	AceView: FLJ36888	Ensembl:ENSG00000160392	euGenes: HUgn126526
ECgene: C19orf47	H-InvDB: C19orf47

(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 C19orf47	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C19orf47 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C19orf47 gene:
Search GeneIP for patents involving C19orf47

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

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Hot genes Disease genes C19orf47 gene at Home site.

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C19orf47 Gene

Chromosome 19 Open Reading Frame 47

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C19orf47 Gene

Chromosome 19 Open Reading Frame 47

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