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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf89 Gene

protein-coding GIFtS: 43
GCID: GC09P095858

chromosome 9 open reading frame 89

Search for C9orf89
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 89¹ ²
BinCARD¹ ² ³
BA370F5.1¹
MGC11115¹
Bcl10-Interacting CARD Protein²
Bcl10-Interacting Protein With CARD²

External Ids:	HGNC: 28148¹	Entrez Gene: 84270²	Ensembl: ENSG00000165233⁷	UniProtKB: Q96LW7³

Export aliases for C9orf89 gene to outside databases

Previous GC identifers: GC09P091200 GC09P092938 GC09P094898 GC09P065535

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

UniProtKB/Swiss-Prot: BINCA_HUMAN, Q96LW7

Function: Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the

phosphorylation of BCL10 in a CARD-dependent manner

(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 C9orf89 gene promoter:
AML1a GR-beta STAT5A LCR-F1 E47 c-Ets-1 GATA-1 HEN1 GR-alpha Msx-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C9orf89

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf89

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

Entrez Gene cytogenetic band: 9q22.31 Ensembl cytogenetic band: 9q22.31 HGNC cytogenetic band: 9q22.32

C9orf89 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf89 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P095858: view genomic region (about GC identifiers)

Start:	95,858,450 bp from pter	End:	95,875,565 bp from pter
Size:	17,116 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: BINCA_HUMAN, Q96LW7 (See protein sequence)

Recommended Name: Bcl10-interacting CARD protein

Size: 228 amino acids; 25589 Da

Subunit: Associates with BCL10 by CARD-CARD interaction

Subcellular location: Nucleus. Note=Co-expression with BCL10 induced translocation from nucleus to cytosol

2 PDB 3D structures from and Proteopedia for C9orf89:

4DWN (3D)

4FH0 (3D)

Secondary accessions: Q5BJH8 Q9BSY2

Alternative splicing: 2 isoforms: Q96LW7-1 Q96LW7-2 (Phosphorylated on Ser-113 upon DNA damage, probably by ATM or ATR. 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 C9orf89: NX_Q96LW7

Post-translational modifications:

Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96LW7

C9orf89 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115686.3

ENSEMBL proteins:

ENSP00000364613 ENSP00000437237

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	Uscn Proteins for C9orf89

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	15637807
GO:0005829	cytosol	NAS	15637807

C9orf89 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: Q96LW7

1 Blocks protein family: IPB001315 CARD interaction domain

UniProtKB/Swiss-Prot: BINCA_HUMAN, Q96LW7

Similarity: Contains 1 CARD domain

(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: BINCA_HUMAN, Q96LW7

Function: Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the

phosphorylation of BCL10 in a CARD-dependent manner

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0050700	CARD domain binding	NAS	15637807

C9orf89 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 C9orf89

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

1 Interacting protein for C9orf89 (Q96LW7^{2, 3} ENSP00000364613⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCL10	O95999²^,³, ENSP00000271015⁴	MINT-51113 MINT-51106 MINT-51109 MINT-51112 MINT-51104 I2D: score=3 STRING: ENSP00000271015

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB cascade	NAS	15637807

C9orf89 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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(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 C9orf89 gene:

NM_032310.3

Unigene Cluster for C9orf89:

Chromosome 9 open reading frame 89

Hs.434213 [show with all ESTs]

Unigene Representative Sequence: AK091611

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

ENST00000375464(uc004atd.3 uc004atf.3) ENST00000466409 ENST00000495641

ENST00000466929 ENST00000468781 ENST00000490488 ENST00000498243 ENST00000475574

ENST00000488630

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Additional cDNA sequence:

AK091611.1 BC004500.2 BC042201.1

10 DOTS entries:

DT.101980875 DT.100026262 DT.100026264 DT.453856 DT.95260592 DT.95192285 DT.100830535 DT.121147755

DT.95148406 DT.97815572

24/156 AceView cDNA sequences (see all 156):

BM726917 BM818270 AA479797 CD676329 CR592085 BM998575 AA477201 AI245270

BU956391 BU542331 BG750149 BM128053 BM694879 BI755931 BM930683 CD367779

BM987510 BC042201 AW207349 AI160024 CR620457 AW074444 BQ943807 BE619269

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf89 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	·	1h	·	1i	·	1j	^	2a	·	2b	·	2c	·	2d	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	·	7d
SP1:																									-		-						-
SP2:																									-		-		-				-
SP3:																											-		-				-
SP4:																											-		-				-		-
SP5:																									-		-		-				-		-

ECgene alternative splicing isoforms for C9orf89

(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

C9orf89 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAGCCGCTA

About this image
See C9orf89 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf89

SOURCE GeneReport for Unigene cluster: Hs.434213

UniProtKB/Swiss-Prot: BINCA_HUMAN, Q96LW7

Tissue specificity: Expressed in ovary, testis, placenta, skeletal muscle, kidney, lung, heart and liver (at protein

level). Expressed in thymus and brain

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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 C9orf89 gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1110007C09Rik^{1 , 5}	RIKEN cDNA 1110007C09 gene^{1, 5}	87.43(n)¹ 90.16(a)¹		13 (25.15 cM)⁵ 68480¹ NM_026738.2¹ NP_081014.1¹ 49202951⁵
chicken (Gallus gallus)	Aves	C12H9orf89¹	chromosome 12 open reading frame, human C9orf89	61.42(n) 56.74(a)		415987 XM_001232398.2 XP_001232399.1
lizard (Anolis carolinensis)	Reptilia	C9orf89⁶	--	56(a)	1 ↔ 1	GL343225.1(1890220-1906584)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11132²	Transcribed sequences	77.24(n)		CF784907.1
zebrafish (Danio rerio)	Actinopterygii	BX248521.3⁶	--	39(a)	1 ↔ 1	11(37935180-37940089)

ENSEMBL Gene Tree for C9orf89 (if available)
TreeFam Gene Tree for C9orf89 (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
				--	--	--		--	--
rs142015001^1,2	C,	--	95856493(+)	`CCACT-/CCCGTC`	1	--	us2k¹		0	--	--	--	--
rs137911876^1,2		--	95856500(+)	`CCGTCA/GCCACC`	1	--	us2k¹		0	--	--	--	--
rs10992634^1,2	C,F,A,	--	95856516(+)	`GGCTCT/CGACAT`	1	--	us2k¹ tfbs³		7		WA CSA NA EA	365
rs10733746^1,2	C,F,A,H,	--	95856572(+)	`TACTAG/CACGTC`	1	--	us2k¹		12		NA WA CSA EA	378
rs114844020^1,2	F,	--	95856604(+)	`AAGAAT/CTGGGG`	1	--	us2k¹		1		WA	118
rs6479452^1,2	C,H,	--	95856686(+)	`TGGAGT/GCCAGA`	1	--	us2k¹		13		NA WA CSA EA	378
rs147180924^1,2		--	95856792(+)	`CATGGA/GCCTGG`	1	--	us2k¹		0	--	--	--	--
rs116157289^1,2	F,	--	95856883(+)	`CTGCTG/ATATAG`	1	--	us2k¹		1		WA	118
rs146135897^1,2		--	95856908(+)	`CCCCAA/GGAATT`	1	--	us2k¹		0	--	--	--	--
rs140122026^1,2		--	95856909(+)	`CCCAAC/GAATTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf89 (95858450 - 95875565 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf89: --

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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 C9orf89 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf89)

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

Inhibition of Bcl10-mediated activation of NF-kappa B by BinCARD, a Bcl10-interacting CARD protein. (PubMed id 15637807)^{1, 2, 9} Woo H.-N.... Jung Y.-K. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 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)^{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)
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)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)² Matsuoka S.... Elledge S.J. (2007)

(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: 84270	HGNC: 28148	AceView: C9orf89	Ensembl:ENSG00000165233	euGenes: HUgn84270
ECgene: C9orf89	H-InvDB: C9orf89

(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 C9orf89	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf89 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf89 gene:
Search GeneIP for patents involving C9orf89

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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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf89

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 C9orf89 gene at Home site.

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C9orf89 Gene

chromosome 9 open reading frame 89

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C9orf89 Gene

chromosome 9 open reading frame 89

Aliasesfor C9orf89 gene

Summariesfor C9orf89 gene

Genomic Viewsfor C9orf89 gene

Proteinsfor C9orf89 gene

Protein Domains /Familiesfor C9orf89 gene

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Genome Databases showing C9orf89 gene

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