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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf85 Gene

protein-coding GIFtS: 38
GCID: GC09P074526

chromosome 9 open reading frame 85

Explore 2 diseases affiliated with
C9orf85 via

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 85¹ ²
MGC61599¹
Uncharacterized Protein C9orf85²

External Ids:	HGNC: 28784¹	Entrez Gene: 138241²	Ensembl: ENSG00000155621⁷	UniProtKB: Q96MD7³

Export aliases for C9orf85 gene to outside databases

Previous GC identifers: GC09P069983 GC09P071755 GC09P073716 GC09P044349

(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_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C9orf85 gene promoter:
STAT5B Max1 USF1 USF2 Pax-2 USF-1:USF-2 Pax-2a C/EBPalpha CHOP-10 Cart-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C9orf85

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf85

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

Entrez Gene cytogenetic band: 9q21.13 Ensembl cytogenetic band: 9q21.13 HGNC cytogenetic band: 9q21.2

C9orf85 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf85 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P074526: view genomic region (about GC identifiers)

Start:	74,526,423 bp from pter	End:	74,600,970 bp from pter
Size:	74,548 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: CI085_HUMAN, Q96MD7 (See protein sequence)

Recommended Name: Uncharacterized protein C9orf85

Size: 179 amino acids; 20166 Da

Sequence caution: Sequence=CAH72769.1; Type=Erroneous gene model prediction;

Secondary accessions: Q5W0N1 Q5W0N3 Q6PJW9 Q86U95

Alternative splicing: 3 isoforms: Q96MD7-3 Q96MD7-1 Q96MD7-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for C9orf85: NX_Q96MD7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96MD7

C9orf85 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_872311.2

ENSEMBL proteins:

ENSP00000433086 ENSP00000334289 ENSP00000366230 ENSP00000434838 ENSP00000431527

ENSP00000366226

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

C9orf85 for domains About GeneDecksing

1 InterPro domain/family:

IPR019351 DUF2039

Graphical View of Domain Structure for InterPro Entry Q96MD7

ProtoNet protein and cluster: Q96MD7

(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 C9orf85

(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 C9orf85
Search CenterWatch for drugs/clinical trials and news about C9orf85 / CI085

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
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DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for C9orf85 gene (2 alternative transcripts):

NM_198394.1 NM_182505.3

Unigene Cluster for C9orf85:

Chromosome 9 open reading frame 85

Hs.534190 [show with all ESTs]

Unigene Representative Sequence: AK307186

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

ENST00000479413 ENST00000334731(uc004ain.3 uc004aio.3) ENST00000377031

ENST00000473252 ENST00000486911(uc010mou.2 uc010mov.2) ENST00000377027

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Additional cDNA sequence:

AK307186.1 AK311206.1 BC052375.1

7 DOTS entries:

DT.310853 DT.201591 DT.209378 DT.99975922 DT.121146096 DT.121150025 DT.210039

24/67 AceView cDNA sequences (see all 67):

CA420108 BU177451 NM_182505 AA824363 AA442437 NM_198394 AA978069 BM923611

AA332945 AA862415 AA687136 AW149895 BC010179 BF569369 AA463332 BQ434894

BC028019 BM682314 BG718441 AI368008 AW296111 AA970520 CA439425 BF939559

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf85 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	·	8d	·	8e
SP1:							-		-
SP2:							-		-						-		-		-
SP3:									-				-		-		-		-
SP4:							-		-				-		-		-
SP5:							-		-				-		-		-		-

ECgene alternative splicing isoforms for C9orf85

(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

C9orf85 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See C9orf85 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf85

SOURCE GeneReport for Unigene cluster: Hs.534190

SABiosciences Custom PCR Arrays for C9orf85

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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 eukaryotes.

Orthologs for C9orf85 gene from 8/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1110059E24Rik^{1 , 5}	RIKEN cDNA 1110059E24 gene^{1, 5}	85.06(n)¹ 83.12(a)¹		19 (15.54 cM)⁵ 66206¹ NM_025423.2¹ NP_079699.1¹ 21581202⁵
chicken (Gallus gallus)	Aves	LOC770483¹	uncharacterized LOC770483	68.51(n) 66.9(a)		770483 XM_001233820.2 XP_001233821.2
lizard (Anolis carolinensis)	Reptilia	C9orf85⁶	--	58(a)	1 ↔ 1	2(48304192-48329936)
African clawed frog (Xenopus laevis)	Amphibia	Xl.14278²	Xenopus laevis transcribed sequence with weak similarity more	74.53(n)		BJ067524.1
zebrafish (Danio rerio)	Actinopterygii	zgc:101016¹	zgc:101016	62.53(n) 60.78(a)		445497 NM_001004001.1 NP_001004001.1
fruit fly (Drosophila melanogaster)	Insecta	CG8675¹	CG8675	45.61(n) 45.11(a)		32716 NM_132981.2 NP_573209.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G02220¹	hypothetical protein	46.92(n) 34.62(a)		821238 NM_111089.3 NP_186871.1
rice (Oryza sativa)	Liliopsida	Os01g0763000¹	hypothetical protein	48.89(n) 41.11(a)		4327030 NM_001050866.1 NP_001044331.1

ENSEMBL Gene Tree for C9orf85 (if available)
TreeFam Gene Tree for C9orf85 (if available)

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

Paralogs for C9orf85 gene

18 SIMAP similar genes for C9orf85 using alignment to 4 protein entries: CI085_HUMAN (see all proteins):

OK/SW-cl.41 ELP4 CALM2 FP6778 LINC00269 NR5A2

CLTA SEPSECS C3orf64 TM4SF19 DSERG1 SLC35E3

HC6 LOC100996300 IDNK RTBDN C14orf105 LSM12

C9orf85 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for C9orf85
PGOHUM00000240646 PGOHUM00000237889

(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
				--	--	--		--	--
rs138673205^1,2		--	74528160(+)	`ACCTGA/TGATCT`	1	--	int¹		0	--	--	--	--
rs80242981^1,2	F,	--	74528183(+)	`CTCTTT/CCTTTC`	1	--	int¹		1		WA	118
rs184572682^1,2		--	74528246(+)	`GTTCAG/TAGGTA`	1	--	int¹		0	--	--	--	--
rs7037951^1,2	C,	--	74528285(+)	`ttcacG/Agagtt`	1	--	int¹		2		WA	120
rs141519623^1,2		--	74528382(+)	`CTCAGC/TAAGGG`	1	--	int¹		0	--	--	--	--
rs189553561^1,2		--	74528459(+)	`GAATGA/CAAACC`	1	--	int¹		0	--	--	--	--
rs146183829^1,2		--	74528565(+)	`TCTGCA/GTCTTG`	1	--	int¹		0	--	--	--	--
rs180746269^1,2		--	74528581(+)	`TCTTAA/CCCTAA`	1	--	int¹		0	--	--	--	--
rs183730544^1,2		--	74528634(+)	`TTTTCA/GTAAAA`	1	--	int¹		0	--	--	--	--
rs200677093^1,2		--	74528702(+)	`GTGCA-/TTTTCT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf85 (74526423 - 74600970 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf85: --

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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

C9orf85 for disorders About GeneDecksing

2 diseases for C9orf85: About MalaCards

intrahepatic cholangiocarcinoma cholangiocarcinoma

Export disorders for C9orf85 gene to outside databases

(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 C9orf85 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf85)

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (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. (2002)
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. (2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)¹ Wang A.G....Kim N.S. (2006)

(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: 138241	HGNC: 28784	AceView: C9orf85	Ensembl:ENSG00000155621	euGenes: HUgn138241
ECgene: C9orf85	H-InvDB: C9orf85

(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 C9orf85	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf85 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf85 gene:
Search GeneIP for patents involving C9orf85

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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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
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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

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C9orf85 gene at Home site.

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C9orf85 Gene

chromosome 9 open reading frame 85

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C9orf85 Gene

chromosome 9 open reading frame 85

Aliasesfor C9orf85 gene

Summariesfor C9orf85 gene

Genomic Viewsfor C9orf85 gene

Proteinsfor C9orf85 gene

Protein Domains /Familiesfor C9orf85 gene

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