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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf69 Gene

protein-coding GIFtS: 32
GCID: GC09M139006

chromosome 9 open reading frame 69

Search for C9orf69
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 9 Open Reading Frame 69¹ ²
BA83N9.1¹
Herpes Virus UL25-Binding Protein² ³
Protein C9orf69²

External Ids:	HGNC: 31009¹	Entrez Gene: 90120²	Ensembl: ENSG00000238227⁷	UniProtKB: H0YL14³

ORGUL members:
	NONCODE:n377976 n377882

Export aliases for C9orf69 gene to outside databases

Previous GC identifers: GC09U900585 GC09M138147 GC09M108469

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CI069_HUMAN, H0YL14

Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1

(HHV-1) proliferation

(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_000009.11 NC_018920.1 NT_019501.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C9orf69 gene promoter:
C/EBPbeta Olf-1 C/EBPalpha GATA-1 CREB E2F E2F-1 Zic1 FOXJ2 (long isoform) FOXJ2
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf69

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

Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3

C9orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf69 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M139006: view genomic region (about GC identifiers)

Start:	139,006,427 bp from pter	End:	139,010,731 bp from pter
Size:	4,305 bases	Orientation:	minus strand

ORGUL member locations:
Legend (see complete legend)

n377976
n377882

lncRNA
Full Legend

139006426 139008568 139010709 chr9

(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: CI069_HUMAN, H0YL14 (See protein sequence)

Recommended Name: Protein C9orf69

Size: 139 amino acids; 16083 Da

Subunit: Interacts with HHV-1 protein UL25; this interaction occurs in the course of a HHV-1 infection

Subcellular location: Membrane; Multi-pass membrane protein (Potential). Nucleus. Cytoplasm. Note=Upon HHV-1 infection,

accumulates arround the nuclear membrane and translocates into the nucleus

Explore the universe of human proteins at neXtProt for C9orf69: NX_H0YL14

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_H0YL14

C9orf69 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (2 alternative transcripts):

NP_001243455.1 NP_690046.3

ENSEMBL proteins:

ENSP00000453019 ENSP00000457272 ENSP00000455849 ENSP00000458020 ENSP00000452750

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0016021	integral to membrane	IEA	--

C9orf69 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

C9orf69 for domains About GeneDecksing

1 InterPro domain/family:

IPR000038 Cell_div_GTP-bd

Graphical View of Domain Structure for InterPro Entry H0YL14

ProtoNet protein and cluster: H0YL14

(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

Function Summary:

UniProtKB/Swiss-Prot: CI069_HUMAN, H0YL14

Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1

(HHV-1) proliferation

Induction: Up-regulated upon HHV-1 infection

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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0005525	GTP binding	IEA	--

C9orf69 for ontologies 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 C9orf69

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007049	cell cycle	IEA	--
GO:0008284	positive regulation of cell proliferation	IDA	--
GO:0019048	virus-host interaction	IEA	--
GO:0048524	positive regulation of viral reproduction	IDA	--

C9orf69 for ontologies About GeneDecksing

(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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Browse Tocris compounds for C9orf69
Search CenterWatch for drugs/clinical trials and news about C9orf69 / CI069

(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 C9orf69 gene (2 alternative transcripts):

NM_001256526.1 NM_152833.2

Unigene Cluster for C9orf69:

Chromosome 9 open reading frame 69

Hs.287411 [show with all ESTs]

Unigene Representative Sequence: NM_152833

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

ENST00000418388 ENST00000557985 ENST00000447934 ENST00000448040 ENST00000561457(uc004cgx.4 uc004cgy.2)

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Additional cDNA sequence:

AK023162.1 AK091349.1 BC009229.2 BC013282.2 BC014304.2 BC021231.2 BC064970.1 BC084549.1

BC092490.1 BC111053.1

9 DOTS entries:

DT.455461 DT.91695587 DT.95296432 DT.92029530 DT.100729122 DT.100777859 DT.100777860 DT.121156352

DT.121156359

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

C9orf69 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCCACCTGC

About this image
Genevestigator expression for C9orf69

SOURCE GeneReport for Unigene cluster: Hs.287411

SABiosciences Custom PCR Arrays for C9orf69

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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 chordates.

Orthologs for C9orf69 gene from 3/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	C330006A16Rik^{1 , 5}	RIKEN cDNA C330006A16 gene^{1, 5}	89.45(n)¹ 95.68(a)¹	2 (18.35 cM)⁵ 109299¹ NM_001256521.1¹ NP_001243450.1¹ 26136814⁵
chicken (Gallus gallus)	Aves	LOC100859101¹	uncharacterized LOC100859101	76.02(n) 83.45(a)	100859101 XM_003642295.1 XP_003642343.1
zebrafish (Danio rerio)	Actinopterygii	LOC100332331¹	uncharacterized LOC100332331	75.06(n) 69.78(a)	100332331 XM_002667432.2 XP_002667478.1

ENSEMBL Gene Tree for C9orf69 (if available)
TreeFam Gene Tree for C9orf69 (if available)

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

Paralogs for C9orf69 gene

C9orf69 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for C9orf69
PGOHUM00000262479

(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
				--	--	--		--	--
rs113074083^1,2		--	139005995(+)	`CCGGGC/TGTGGT`	2	--	int¹ ds500¹		1		CSA	2
rs10121797^1,2	C,	--	139006001(+)	`gtggtC/Ggtggg`	2	--	int¹ ds500¹		0	--	--	--	--
rs186944366^1,2		--	139006042(+)	`AGACAA/CAAGAA`	2	--	ds500¹ int¹		0	--	--	--	--
rs146375361^1,2		--	139006110(+)	`AGCCCA/GGCTGA`	2	--	int¹ ds500¹		0	--	--	--	--
rs192506545^1,2		--	139006171(+)	`GTCAGC/TCGAAT`	2	--	ds500¹ int¹		0	--	--	--	--
rs184923542^1,2		--	139006193(+)	`CGGCCA/TGCACA`	2	--	int¹ ds500¹		0	--	--	--	--
rs189828787^1,2		--	139006279(+)	`AAGGAC/GAACCC`	2	--	int¹ ds500¹		0	--	--	--	--
rs182042472^1,2		--	139006288(+)	`CCTGGC/TCTCAG`	2	--	int¹ ds500¹		0	--	--	--	--
rs77143767^1,2		--	139006349(+)	`TACACA/GAGATG`	2	--	int¹ ds500¹		1		NA	120
rs7875075^1,2	C,F,	--	139006383(+)	`TATTAT/CGTCCT`	2	--	int¹ ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for C9orf69 (139006427 - 139010731 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C9orf69
2 CNVs: 70833 4662

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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 C9orf69 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf69)

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

Host cell protein C9orf9 promotes viral proliferation via interaction with HSV-1 UL25 protein. (PubMed id 21667337)^{1, 2, 3} Zhang Y....Li Q.H. (2011)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (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)¹ 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: 90120	HGNC: 31009	Ensembl:ENSG00000238227	euGenes: HUgn90120	ECgene: C9orf69
H-InvDB: C9orf69

(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 C9orf69	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf69 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf69 gene:
Search GeneIP for patents involving C9orf69

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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GeneCards Homepage - Last full update: 19 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 C9orf69 gene at Home site.

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C9orf69 Gene

chromosome 9 open reading frame 69

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C9orf69 Gene

chromosome 9 open reading frame 69

Aliasesfor C9orf69 gene

Summariesfor C9orf69 gene

Genomic Viewsfor C9orf69 gene

Proteinsfor C9orf69 gene

Protein Domains /Familiesfor C9orf69 gene

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Genome Databases showing C9orf69 gene

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Aliases
for C9orf69 gene

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for C9orf69 gene

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for C9orf69 gene

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for C9orf69 gene

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for C9orf69 gene

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for C9orf69 gene

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for C9orf69 gene

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