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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf47 Gene

protein-coding GIFtS: 33
GCID: GC09P091605

chromosome 9 open reading frame 47

(Previous name: chromosome 9 open reading frame 108 )
(Previous symbol: C9orf108)

Search for C9orf47
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 9 Open Reading Frame 47¹ ²
C9orf108¹ ² ³
BA791O21.3¹
FLJ37523¹
Chromosome 9 Open Reading Frame 108¹
Uncharacterized Protein C9orf47²

External Ids:	HGNC: 23669¹	Entrez Gene: 286223²	Ensembl: ENSG00000186354⁷	UniProtKB: Q6ZRZ4³

Export aliases for C9orf47 gene to outside databases

Previous GC identifers: GC00U914331 GC09P088835 GC09P090795 GC09P061438

(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

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C9orf47 gene promoter:
AhR Bach1 AML1a CUTL1 MIF-1 E47 Hand1 Pax-4a
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 C9orf47

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

Entrez Gene cytogenetic band: 9q22.1 Ensembl cytogenetic band: 9q22.1 HGNC cytogenetic band: 9q22.1

C9orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf47 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P091605: view genomic region (about GC identifiers)

Start:	91,605,778 bp from pter	End:	91,611,057 bp from pter
Size:	5,280 bases	Orientation:	plus 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: CI047_HUMAN, Q6ZRZ4 (See protein sequence)

Recommended Name: Uncharacterized protein C9orf47 precursor

Size: 202 amino acids; 22306 Da

Subcellular location: Secreted (Potential)

Secondary accessions: B7ZMC7 Q5SQD7 Q7Z568 Q8N1V4

Alternative splicing: 2 isoforms: Q6ZRZ4-1 Q6ZRZ4-2

Explore the universe of human proteins at neXtProt for C9orf47: NX_Q6ZRZ4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6ZRZ4

C9orf47 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001001938.1 NP_001135885.1

ENSEMBL proteins:

ENSP00000365011 ENSP00000365010 ENSP00000335616

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	Uscn Proteins for C9orf47

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	--

C9orf47 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: Q6ZRZ4

(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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(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 C9orf47

(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

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(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 C9orf47 gene (2 alternative transcripts):

NM_001001938.3 NM_001142413.1

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

ENST00000375851(uc004aqc.2 uc004aqd.3) ENST00000375850 ENST00000334490

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24/122 AceView cDNA sequences (see all 122):

AI658766 BM994343 AI141395 AA234027 BF475629 BF221618 AI400436 AK130650

BF589582 BX090228 BQ668511 CK905851 AK130843 AW079308 AL536342 AL832194

CA427601 AI473541 AA424364 AA375607 BF432401 NM_005226 AW137598 BM997301

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf47 About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4
SP1:					-		-
SP2:							-
SP3:											-

ECgene alternative splicing isoforms for C9orf47

(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

C9orf47 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAAACACA

About this image

C9orf47 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: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C9orf47 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf47

SABiosciences Custom PCR Arrays for C9orf47

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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

--

ENSEMBL Gene Tree for C9orf47 (if available)
TreeFam Gene Tree for C9orf47 (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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190717864^1,2		--	91603820(+)	`CCCATA/GGTGTC`	2	--	us2k¹		0	--	--	--	--
rs149547942^1,2		--	91603884(+)	`AGAGGC/GTTTGC`	2	--	us2k¹		0	--	--	--	--
rs182618679^1,2		--	91603899(+)	`GATTCA/CATTGA`	2	--	us2k¹		0	--	--	--	--
rs115352326^1,2	C,	--	91603901(+)	`TTCAAC/TTGAAG`	2	--	us2k¹		0	--	--	--	--
rs187823411^1,2		--	91603970(+)	`GCCAGG/TTTGAG`	2	--	us2k¹		0	--	--	--	--
rs7043095^1,2	C,F,A,H,	--	91604005(+)	`ATCTTC/TCTGTA`	2	--	us2k¹		30		NS EA NA CSA WA	3168
rs191361619^1,2		--	91604088(+)	`CCGTTC/TGCCTG`	2	--	us2k¹		0	--	--	--	--
rs73496028^1,2	C,	--	91604089(+)	`CGTTCG/ACCTGC`	2	--	us2k¹		1		WA	2
rs183174371^1,2		--	91604098(+)	`GCACAC/GTTTCA`	2	--	us2k¹		0	--	--	--	--
rs187621299^1,2		--	91604249(+)	`CAGGAA/TGCAGA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf47 (91605778 - 91611057 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C9orf47
1 CNV: 70762

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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 C9orf47 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf47)

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

DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Genetic determinants of statin-induced low-density lip oprotein cholesterol reduction: the Justification for the Use of Statins in Prev ention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PubMed id 22331829)¹ Chasman D.I....Ridker P.M. (2012)
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)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(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: 286223	HGNC: 23669	AceView: EDG3	Ensembl:ENSG00000186354	euGenes: HUgn286223
ECgene: C9orf47	H-InvDB: C9orf47

(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 C9orf47	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf47 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf47 gene:
Search GeneIP for patents involving C9orf47

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

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About This Section


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C9orf47 Gene

chromosome 9 open reading frame 47

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for C9orf47 gene

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C9orf47 Gene

chromosome 9 open reading frame 47

Aliasesfor C9orf47 gene

Summariesfor C9orf47 gene

Genomic Viewsfor C9orf47 gene

Proteinsfor C9orf47 gene

Protein Domains /Familiesfor C9orf47 gene

Functionfor C9orf47 gene

Pathways & Interactionsfor C9orf47 gene

Drugs & Compoundsfor C9orf47 gene

Transcriptsfor C9orf47 gene

Expression for C9orf47 gene

Orthologsfor C9orf47 gene

Paralogsfor C9orf47 gene

Genomic Variantsfor C9orf47 gene

Disorders / Diseasesfor C9orf47 gene

Publicationsfor C9orf47 gene

External Searches for C9orf47 gene

Genome Databases showing C9orf47 gene

Other Databases showing C9orf47 gene

Specialized Databases showing C9orf47 gene

Intellectual Propertyfor C9orf47 gene

Productsfor C9orf47 gene

View Random Gene

Aliases
for C9orf47 gene

Summaries
for C9orf47 gene

Genomic Views
for C9orf47 gene

Proteins
for C9orf47 gene

Protein Domains /
Families
for C9orf47 gene

Function
for C9orf47 gene

Pathways & Interactions
for C9orf47 gene

Drugs & Compounds
for C9orf47 gene

Transcripts
for C9orf47 gene

Expression
for C9orf47 gene

Orthologs
for C9orf47 gene

Paralogs
for C9orf47 gene

Genomic Variants
for C9orf47 gene

Disorders / Diseases
for C9orf47 gene

Publications
for C9orf47 gene

Intellectual Property
for C9orf47 gene

Products
for C9orf47 gene