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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATG9B Gene

protein-coding GIFtS: 45
GCID: GC07M150710

autophagy related 9B

(Previous names: nitric oxide synthase 3 antisense, ATG9 autophagy related...)
(Previous symbol: NOS3AS)

Explore 11 diseases affiliated with
ATG9B 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
Autophagy Related 9B¹ ²		FLJ14885¹
APG9L2¹ ² ³ ⁵		ATG9 Autophagy Related 9 Homolog B (S. Cerevisiae)¹
NOS3AS¹ ² ³ ⁵		Nitric Oxide Synthase 3 Antisense¹
SONE¹ ² ⁵		ATG9 Autophagy Related 9 Homolog B²
Nitric Oxide Synthase 3-Overlapping Antisense Gene Protein² ³		Autophagy 9-Like 2 Protein²
Protein SONE² ³		Autophagy-Related Protein 9B²
APG9-Like 2² ³		Endothelial Nitric Oxide Synthase Antisense²

External Ids:	HGNC: 21899¹	Entrez Gene: 285973²	Ensembl: ENSG00000181652⁷	OMIM: 612205⁵	UniProtKB: Q674R7³

Export aliases for ATG9B gene to outside databases

Previous GC identifers: GC07U901563 GC07M150170 GC07M150340 GC07M144521

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

Entrez Gene summary for ATG9B:

This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an

antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has

3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have

been associated with multiple cancers. Alternative splicing results in multiple transcript variants. (provided by

RefSeq, Sep 2012)

UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7

Function: Plays a role in autophagy (By similarity)

(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_000007.13 NC_018918.1 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATG9B gene promoter:
AREB6 USF-1 Lmo2 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 Pax-4a E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATG9B promoter sequence

Search SABiosciences Chromatin IP Primers for ATG9B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATG9B

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

Entrez Gene cytogenetic band: 7q36.1 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36

ATG9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG9B gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M150710: view genomic region (about GC identifiers)

Start:	150,709,297 bp from pter	End:	150,721,586 bp from pter
Size:	12,290 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 150,038,886-150,051,176

(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: ATG9B_HUMAN, Q674R7 (See protein sequence)

Recommended Name: Autophagy-related protein 9B

Size: 924 amino acids; 101019 Da

Subcellular location: Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein (By similarity)

Miscellaneous: ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are

oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662 nucleotides.

ATG9B transcription may a role in NOS3 transcription regulation

Sequence caution: Sequence=AAQ86941.1; Type=Erroneous initiation; Sequence=AC010973; Type=Frameshift; Positions=766;

Secondary accessions: A1A5D3 Q6JRW5 Q8N8I8

Alternative splicing: 3 isoforms: Q674R7-1 Q674R7-2 Q674R7-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATG9B: NX_Q674R7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q674R7

ATG9B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_775952.4
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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:0000421	autophagic vacuole membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0031410	cytoplasmic vesicle	IEA	--

ATG9B 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

ATG9B for domains About GeneDecksing

1 InterPro domain/family:

IPR007241 Autophagy-rel_prot_9

Graphical View of Domain Structure for InterPro Entry Q674R7

ProtoNet protein and cluster: Q674R7

UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7

Similarity: Belongs to the ATG9 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

Function Summary:

UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7

Function: Plays a role in autophagy (By similarity)

Induction: By hypoxia, leading to inhibit NOS3 expression

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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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATG9B

1 Interacting protein for ATG9B (Q674R7³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATG16L1	Q676U5³	I2D: score=1

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:0000045	autophagic vacuole assembly	IDA	15755735

ATG9B 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 ATG9B
Search CenterWatch for drugs/clinical trials and news about ATG9B

(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 ATG9B gene:

NM_173681.5

Unigene Cluster for ATG9B:

Autophagy related 9B

Hs.707300 [show with all ESTs]

Unigene Representative Sequence: NM_173681

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

ENST00000472699 ENST00000494791(uc003wig.4 uc011kvc.2) ENST00000486407

ENST00000404733 ENST00000476282 ENST00000471797 ENST00000464855 ENST00000469530

ENST00000473698 ENST00000473409 ENST00000473134 ENST00000466157 ENST00000377974

ENST00000444312

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Additional cDNA sequence:

AY316116.1 BC128587.1 NR_073169.1

13 DOTS entries:

DT.100778681 DT.308401 DT.75101228 DT.97837908 DT.97845230 DT.75176268 DT.97765741 DT.111928

DT.121121388 DT.95269492 DT.97835824 DT.100001498 DT.313642

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

ATG9B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGGTGGGT

About this image

ATG9B 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

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATG9B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATG9B

SOURCE GeneReport for Unigene cluster: Hs.707300

UniProtKB/Swiss-Prot: ATG9B_HUMAN, Q674R7

Tissue specificity: Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular

endothelial

SABiosciences Expression via Pathway-Focused PCR Array including ATG9B:

Autophagy in human mouse rat

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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 human and mouse.

Orthologs for ATG9B gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atg9b^{1 , 5}	ATG9 autophagy related 9 homolog B (S. cerevisiae)⁵ autophagy related 9B¹	85.76(n)¹ 87.54(a)¹		5 (11.49 cM)⁵ 213948¹ NM_001002897.3¹ NP_001002897.2¹ 24384181⁵

ENSEMBL Gene Tree for ATG9B (if available)
TreeFam Gene Tree for ATG9B (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 7 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3918238^1,2	C	--	144524569(+)	`AGTCAC/GAGAGA`	2	--	int¹		5	NS NA	190
rs3918212^1,2	C,F,H,	--	144524656(+)	`CACCCG/CTACTG`	2	--	int¹		14	NS EA CSA	1238
rs3918213^1,2	C,F,	--	144524815(+)	`TAGCTC/TGGCCT`	2	--	nc-transcript-variantint¹		6	NS CSA WA	402
rs3918214^1,2	C,F,H,	--	144524965(+)	`CCATCA/GGCATC`	2	--	int¹ nc-transcript-variant		11	NS NA	1634
rs3918215^1,2	C,F,H,	--	144525002(+)	`TTCTCG/AGGGCG`	2	--	nc-transcript-variantint¹		6	NS CSA	392
rs3918216^1,2	C,F,	--	144525072(+)	`GGCCTC/GTAACA`	2	--	int¹ nc-transcript-variant		8	NS NA WA	1000
rs78171488^1,2	F,	--	144525302(+)	`GCAATA/GCTGAC`	2	--	int¹		1	WA	118
rs3918239^1,2	C,F,H,	--	144525304(+)	`AATACT/CGACCC`	2	--	int¹		9	NS NA EU	1610
rs3918217^1,2	C,F,H,	--	144525319(+)	`GAGTCG/ATCTCA`	2	--	nc-transcript-variantut3¹ ese³		11	NS NA CSA WA	1102
rs3918220^1,2	C,F,H,	--	144525794(+)	`CACCTC/GAGTCT`	2	--	int¹		17	NS EA NA CSA WA	1384

HapMap Linkage Disequilibrium report for ATG9B (150709297 - 150721586 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATG9B
1 Indel: 41041

SABiosciences Cancer Mutation PCR Assays

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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

ATG9B for disorders           About GeneDecksing

OMIM gene information: 612205    OMIM disorders: --

11 diseases for ATG9B:    About MalaCards

non-hodgkin lymphoma skeletal tuberculosis hodgkin's lymphoma hypertensive retinopathy

hypertension tuberculosis meningioma colorectal cancer

atherosclerosis hypoxia leukemia

Human Genome Epidemiology (HuGE) Navigator: ATG9B (11 documents)

Export disorders for ATG9B 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 ATG9B gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with ATG9B)

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

Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript. (PubMed id 15234981)^{1, 2, 3, 9} Robb G.B.... Marsden P.A. (2004)
Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast. (PubMed id 15755735)^{1, 2, 3} Yamada T....Scherer S.W. (2005)
Hypoxia-inducible expression of a natural cis-antisense transcript inhibits endothelial nitric-oxide synthase. (PubMed id 17403686)^{1, 2} Fish J.E.... Marsden P.A. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Induction of cellular senescence by doxorubicin is ass ociated with upregulated miR-375 and induction of autophagy in K562 cells. (PubMed id 22606351)¹ Yang M.Y....Lin S.F. (2012)
Genetic polymorphisms in oxidative stress pathway gene s and modification of BMI and risk of non-Hodgkin lymphoma. (PubMed id 22374993)¹ Kim C....Zhang Y. (2012)
Polymorphisms in autophagy genes and susceptibility to tuberculosis. (PubMed id 22879892)¹ Songane M....van Crevel R. (2012)
Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)¹ Emanuele M.J....Elledge S.J. (2011)
Identification of type 2 diabetes-associated combinat ion of SNPs using support vector machine. (PubMed id 20416077)¹ Ban H.J....Park K.J. (2010)
New insights into the function of Atg9. (PubMed id 20083107)¹ Webber J.L. and Tooze S.A. (2010)

(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: 285973	HGNC: 21899	Ensembl:ENSG00000181652	euGenes: HUgn285973	ECgene: ATG9B
H-InvDB: ATG9B

(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 ATG9B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ATG9B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ATG9B gene:
Search GeneIP for patents involving ATG9B

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: 18 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

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ATG9B Gene

autophagy related 9B

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ATG9B Gene

autophagy related 9B

Aliasesfor ATG9B gene

Summariesfor ATG9B gene

Genomic Viewsfor ATG9B gene

Proteinsfor ATG9B gene

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