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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf16 Gene

protein-coding GIFtS: 44
GCID: GC09P130922

chromosome 9 open reading frame 16

Search for C9orf16
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 16¹ ²
EST00098¹
FLJ12823¹
MGC4639¹
UPF0184 Protein C9orf16²

External Ids:	HGNC: 17823¹	Entrez Gene: 79095²	Ensembl: ENSG00000171159⁷	UniProtKB: Q9BUW7³

Export aliases for C9orf16 gene to outside databases

Previous GC identifers: GC09P122037 GC09P122569 GC09P124376 GC09P126298 GC09P128002 GC09P129963 GC09P100536

(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 C9orf16 gene promoter:
Tal-1 MyoD E47 CREB PPAR-gamma1 deltaCREB FOXO1a PPAR-gamma2 ZIC2/Zic2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C9orf16 promoter sequence

Search SABiosciences Chromatin IP Primers for C9orf16

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf16

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

Entrez Gene cytogenetic band: 9q34.1 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.1

C9orf16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf16 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P130922: view genomic region (about GC identifiers)

Start:	130,922,539 bp from pter	End:	130,926,207 bp from pter
Size:	3,669 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: CI016_HUMAN, Q9BUW7 (See protein sequence)

Recommended Name: UPF0184 protein C9orf16

Size: 83 amino acids; 9054 Da

Secondary accessions: Q5SYV8 Q9Y3F7

Explore the universe of human proteins at neXtProt for C9orf16: NX_Q9BUW7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BUW7

C9orf16 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_077017.1

ENSEMBL proteins:

ENSP00000362085

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	Uscn Proteins for C9orf16

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:0005575	cellular_component	ND	--

C9orf16 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

C9orf16 for domains About GeneDecksing

2 InterPro domains/families:

IPR022788 UPF0184

IPR005374 UPF0184_eukaryota

Graphical View of Domain Structure for InterPro Entry Q9BUW7

ProtoNet protein and cluster: Q9BUW7

UniProtKB/Swiss-Prot: CI016_HUMAN, Q9BUW7

Similarity: Belongs to the UPF0184 (EST00098) family

(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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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for C9orf16

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:0003674	molecular_function	ND	--

C9orf16 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 C9orf16

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

1 Interacting protein for C9orf16 (Q9BUW7^{2, 3} ENSP00000362085⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KRT20	P35900²^,³, ENSP00000167588⁴	MINT-68373 I2D: score=5 STRING: ENSP00000167588

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:0008150	biological_process	ND	--

C9orf16 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C9orf16
Search CenterWatch for drugs/clinical trials and news about C9orf16 / CI016

(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 C9orf16 gene:

NM_024112.3

Unigene Cluster for C9orf16:

Chromosome 9 open reading frame 16

Hs.522412 [show with all ESTs]

Unigene Representative Sequence: AK022885

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

ENST00000372994(uc004btp.1) ENST00000492588(uc022bnw.1) ENST00000489240

ENST00000486420

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		hsa-miR-1909*
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Additional cDNA sequence:

AK022885.1 AK311245.1 AK315753.1 BC001857.2 BC008887.2

7 DOTS entries:

DT.310892 DT.91871646 DT.92057873 DT.92425372 DT.95375411 DT.97846581 DT.121152498

24/128 AceView cDNA sequences (see all 128):

BM915599 NM_024112 BC008887 BU727556 BE048062 AI816209 BM709209 AI937209

CA390751 AW161534 AA398406 BU182415 CR601282 BM920182 BC001857 BM761945

BM665566 BU155835 CD742735 BX281321 BM550794 BU731943 BM760463 BM996050

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf16 About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c
SP1:											-
SP2:							-		-		-
SP3:
SP4:									-		-

ECgene alternative splicing isoforms for C9orf16

(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

C9orf16 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTCCTGGG

About this image

C9orf16 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Neural Tube

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C9orf16 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf16

SOURCE GeneReport for Unigene cluster: Hs.522412

SABiosciences Custom PCR Arrays for C9orf16

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In Situ
Assay Products:

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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 C9orf16 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1110008P14Rik^{1 , 5}	RIKEN cDNA 1110008P14 gene^{1, 5}	90.36(n)¹ 93.98(a)¹		2 (22.09 cM)⁵ 73737¹ NM_198001.2¹ NP_932118.1¹ 32377097⁵
chicken (Gallus gallus)	Aves	C17H9orf16¹	chromosome 17 open reading frame, human C9orf16	80.37(n) 80.82(a)		417215 NM_001197034.1 NP_001183963.1
lizard (Anolis carolinensis)	Reptilia	C9orf16⁶	--	85(a)	1 ↔ 1	GL343763.1(202249-202407)
zebrafish (Danio rerio)	Actinopterygii	CABZ01048142.1⁶	--	60(a)	1 ↔ 1	5(1540583-1544529)
fruit fly (Drosophila melanogaster)	Insecta	CG14818⁶	--	23(a)	1 ↔ 1	X(1773052-1773807)

ENSEMBL Gene Tree for C9orf16 (if available)
TreeFam Gene Tree for C9orf16 (if available)

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

Paralogs for C9orf16 gene

C9orf16 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for C9orf16
PGOHUM00000247465 PGOHUM00000246303

(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
				--	--	--		--	--
rs146662055^1,2		--	130920552(+)	`CAGGTA/GGATCA`	1	--	us2k¹		0	--	--	--	--
rs140444364^1,2		--	130920580(+)	`GAGACC/GAGCCA`	1	--	us2k¹		0	--	--	--	--
rs145539718^1,2		--	130920606(+)	`ACCTCA/GTCTCT`	1	--	us2k¹		0	--	--	--	--
rs113086590^1,2	C,	--	130920688(+)	`CACAAG/TAATTG`	1	--	us2k¹		1		WA	2
rs188132358^1,2		--	130920790(+)	`ACAAAC/GAAACA`	1	--	us2k¹		0	--	--	--	--
rs149077175^1,2		--	130920935(+)	`CTCCCA/GCCTCA`	1	--	us2k¹		0	--	--	--	--
rs192405146^1,2		--	130920951(+)	`CTGAGC/GAGCTG`	1	--	us2k¹		0	--	--	--	--
rs183467090^1,2		--	130921057(+)	`ACCTCA/GTGATC`	1	--	us2k¹		0	--	--	--	--
rs189370106^1,2		--	130921072(+)	`CGCCTC/TGGCCT`	1	--	us2k¹		0	--	--	--	--
rs192467595^1,2		--	130921073(+)	`GCCTCA/GGCCTC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf16 (130922539 - 130926207 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf16: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf16

DNA2.0 Custom Variant and Variant Library Synthesis for C9orf16

(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 C9orf16 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with C9orf16)

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

Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. (PubMed id 10369878)^{1, 2, 3} Gilley J. and Fried M. (1999)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
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)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
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)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (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: 79095	HGNC: 17823	AceView: C9orf16	Ensembl:ENSG00000171159	euGenes: HUgn79095
ECgene: C9orf16	H-InvDB: C9orf16

(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 C9orf16	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf16 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf16 gene:
Search GeneIP for patents involving C9orf16

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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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C9orf16
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	GenScript Custom Purified and Recombinant Proteins Services for C9orf16		GenScript cDNA clones with any tag delivered in your preferred vector for C9orf16
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	Regulatory tfbs in C9orf16 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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	Search for Antibodies for C9orf16 at Abcam
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Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for C9orf16

	SwitchGear 3'UTR luciferase reporter plasmids for C9orf16
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ThermoFisher Antibody for C9orf16

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf16

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 C9orf16 gene at Home site.

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C9orf16 Gene

chromosome 9 open reading frame 16

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C9orf16 Gene

chromosome 9 open reading frame 16

Aliasesfor C9orf16 gene

Summariesfor C9orf16 gene

Genomic Viewsfor C9orf16 gene

Proteinsfor C9orf16 gene

Protein Domains /Familiesfor C9orf16 gene

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